Incidental Mutation 'IGL03037:Pard3'
| ID |
408756 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pard3
|
| Ensembl Gene |
ENSMUSG00000025812 |
| Gene Name |
par-3 family cell polarity regulator |
| Synonyms |
Par3, Pard3a, ASIP, D8Ertd580e, PAR-3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03037
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
127790643-128338767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128032975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 190
(T190S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026921]
[ENSMUST00000079777]
[ENSMUST00000108752]
[ENSMUST00000159537]
[ENSMUST00000159818]
[ENSMUST00000160272]
[ENSMUST00000160581]
[ENSMUST00000161355]
[ENSMUST00000162456]
[ENSMUST00000162536]
[ENSMUST00000162531]
[ENSMUST00000162602]
[ENSMUST00000160766]
[ENSMUST00000162907]
[ENSMUST00000160717]
[ENSMUST00000162309]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026921
AA Change: T190S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
1.1e-72 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
810 |
837 |
3e-10 |
PDB |
|
low complexity region
|
863 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
902 |
N/A |
INTRINSIC |
|
low complexity region
|
921 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
1005 |
N/A |
INTRINSIC |
|
low complexity region
|
1162 |
1200 |
N/A |
INTRINSIC |
|
low complexity region
|
1264 |
1281 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079777
AA Change: T55S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078710
Gene: ENSMUSG00000025812
AA Change: T55S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
|
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
|
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
|
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
675 |
702 |
2e-10 |
PDB |
|
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
885 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108752
AA Change: T55S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104383
Gene: ENSMUSG00000025812
AA Change: T55S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
|
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
|
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
|
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159537
AA Change: T190S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124934
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
6.7e-73 |
PFAM |
|
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
|
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
|
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
|
PDZ
|
542 |
627 |
9.87e-14 |
SMART |
|
low complexity region
|
717 |
727 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
756 |
783 |
2e-10 |
PDB |
|
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
943 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160272
AA Change: T190S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
1.7e-60 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
810 |
837 |
4e-10 |
PDB |
|
low complexity region
|
878 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1177 |
1215 |
N/A |
INTRINSIC |
|
low complexity region
|
1279 |
1296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160581
AA Change: T193S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124141
Gene: ENSMUSG00000025812
AA Change: T193S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
4 |
149 |
7.1e-73 |
PFAM |
|
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
|
PDZ
|
285 |
364 |
2.34e-6 |
SMART |
|
low complexity region
|
434 |
443 |
N/A |
INTRINSIC |
|
PDZ
|
472 |
551 |
4.1e-20 |
SMART |
|
PDZ
|
589 |
674 |
9.87e-14 |
SMART |
|
low complexity region
|
764 |
774 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
983 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161355
AA Change: T190S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125064
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
7.2e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
989 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162456
AA Change: T55S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124162
Gene: ENSMUSG00000025812
AA Change: T55S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
|
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
|
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
|
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
675 |
702 |
2e-10 |
PDB |
|
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
885 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162536
AA Change: T190S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
1e-72 |
PFAM |
|
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
|
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
|
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
|
PDZ
|
555 |
640 |
9.87e-14 |
SMART |
|
low complexity region
|
727 |
737 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
766 |
793 |
3e-10 |
PDB |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
1132 |
1170 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162531
AA Change: T190S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125610
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
8.4e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
586 |
671 |
9.87e-14 |
SMART |
|
low complexity region
|
761 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
850 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
877 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
925 |
N/A |
INTRINSIC |
|
low complexity region
|
940 |
980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162602
AA Change: T190S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125450
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
7.6e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
774 |
784 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
813 |
840 |
2e-10 |
PDB |
|
low complexity region
|
881 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
968 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1023 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160766
AA Change: T190S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
1e-72 |
PFAM |
|
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
|
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
|
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
|
PDZ
|
542 |
627 |
9.87e-14 |
SMART |
|
low complexity region
|
714 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
1090 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1192 |
1209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162907
AA Change: T190S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124319
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
4.6e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160717
AA Change: T55S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125612
Gene: ENSMUSG00000025812
AA Change: T55S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
|
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
|
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
|
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161277
AA Change: T165S
|
| SMART Domains |
Protein: ENSMUSP00000124789
Gene: ENSMUSG00000025812
AA Change: T165S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
3 |
122 |
9.6e-37 |
PFAM |
|
PDZ
|
214 |
293 |
2.34e-6 |
SMART |
|
low complexity region
|
363 |
372 |
N/A |
INTRINSIC |
|
PDZ
|
401 |
480 |
4.1e-20 |
SMART |
|
PDZ
|
518 |
603 |
9.87e-14 |
SMART |
|
low complexity region
|
693 |
703 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
732 |
759 |
2e-10 |
PDB |
|
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
919 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162309
AA Change: T190S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: T190S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
6.2e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
810 |
837 |
4e-10 |
PDB |
|
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1214 |
N/A |
INTRINSIC |
|
low complexity region
|
1278 |
1295 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162665
AA Change: T209S
|
| SMART Domains |
Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: T209S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
21 |
166 |
1.4e-60 |
PFAM |
|
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
|
PDZ
|
302 |
381 |
2.34e-6 |
SMART |
|
low complexity region
|
451 |
460 |
N/A |
INTRINSIC |
|
PDZ
|
489 |
568 |
4.1e-20 |
SMART |
|
PDZ
|
619 |
704 |
9.87e-14 |
SMART |
|
low complexity region
|
791 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
926 |
955 |
N/A |
INTRINSIC |
|
low complexity region
|
970 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1205 |
N/A |
INTRINSIC |
|
low complexity region
|
1269 |
1286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160593
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E12.5 associated with growth retardation, abnormal heart development, and abnormal epicardial cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,807,294 (GRCm39) |
L539P |
probably damaging |
Het |
| Adam23 |
A |
T |
1: 63,610,176 (GRCm39) |
Q726L |
possibly damaging |
Het |
| Ago1 |
T |
C |
4: 126,355,587 (GRCm39) |
E74G |
probably benign |
Het |
| Atp6v1d |
C |
A |
12: 78,904,122 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
A |
3: 37,023,356 (GRCm39) |
S2227R |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,023,357 (GRCm39) |
S2229P |
probably damaging |
Het |
| Cadm4 |
T |
A |
7: 24,200,220 (GRCm39) |
L243Q |
probably damaging |
Het |
| Camsap2 |
C |
A |
1: 136,202,595 (GRCm39) |
L1274F |
probably damaging |
Het |
| Car10 |
A |
G |
11: 92,991,044 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
A |
T |
17: 56,948,583 (GRCm39) |
D186V |
possibly damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,230 (GRCm39) |
Y285C |
probably damaging |
Het |
| Cenpi |
T |
A |
X: 133,250,017 (GRCm39) |
C599S |
possibly damaging |
Het |
| Cln8 |
A |
T |
8: 14,944,679 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,962,417 (GRCm39) |
|
probably null |
Het |
| Cripto |
C |
A |
9: 110,772,288 (GRCm39) |
W36L |
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,672,930 (GRCm39) |
N532D |
possibly damaging |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,063,545 (GRCm39) |
E249G |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,269,643 (GRCm39) |
V393A |
probably benign |
Het |
| Fhip1b |
A |
T |
7: 105,028,293 (GRCm39) |
H885Q |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,696,116 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
C |
A |
11: 53,059,050 (GRCm39) |
A503D |
possibly damaging |
Het |
| Gda |
T |
A |
19: 21,411,673 (GRCm39) |
I42L |
possibly damaging |
Het |
| Gprc5d |
C |
A |
6: 135,093,319 (GRCm39) |
C196F |
probably damaging |
Het |
| Hnrnpa0 |
A |
G |
13: 58,275,767 (GRCm39) |
F121L |
probably damaging |
Het |
| Hsd3b7 |
C |
T |
7: 127,400,322 (GRCm39) |
H24Y |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,311,368 (GRCm39) |
S1188P |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mcemp1 |
C |
A |
8: 3,717,055 (GRCm39) |
Y65* |
probably null |
Het |
| Mmp16 |
C |
T |
4: 17,996,222 (GRCm39) |
P104S |
probably damaging |
Het |
| Mpst |
C |
A |
15: 78,294,798 (GRCm39) |
R177S |
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,487,086 (GRCm39) |
T279S |
probably benign |
Het |
| Or1q1 |
C |
T |
2: 36,887,560 (GRCm39) |
T246I |
probably benign |
Het |
| Or1x2 |
A |
T |
11: 50,918,117 (GRCm39) |
Y96F |
probably damaging |
Het |
| Or4c11b |
A |
G |
2: 88,625,299 (GRCm39) |
Y191C |
probably damaging |
Het |
| Or7g18 |
T |
A |
9: 18,786,668 (GRCm39) |
I12N |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,528,012 (GRCm39) |
D455G |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,616,308 (GRCm39) |
I756V |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,592,923 (GRCm39) |
L1730P |
probably benign |
Het |
| Pnpla3 |
T |
C |
15: 84,056,960 (GRCm39) |
I155T |
probably damaging |
Het |
| Prmt8 |
T |
C |
6: 127,680,940 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Rbfox1 |
T |
A |
16: 7,110,147 (GRCm39) |
|
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,521,849 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
A |
G |
17: 3,240,496 (GRCm39) |
K623E |
probably damaging |
Het |
| Slc26a4 |
A |
T |
12: 31,581,686 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,894,078 (GRCm39) |
I854F |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,544,231 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,727,758 (GRCm39) |
D775G |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,979,486 (GRCm39) |
|
probably null |
Het |
| Spata31d1d |
T |
A |
13: 59,873,947 (GRCm39) |
E1196V |
possibly damaging |
Het |
| Sqle |
T |
A |
15: 59,193,246 (GRCm39) |
Y208N |
probably damaging |
Het |
| Tcl1b5 |
C |
T |
12: 105,145,273 (GRCm39) |
T79M |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,751,913 (GRCm39) |
F959L |
possibly damaging |
Het |
| Tnfrsf19 |
T |
A |
14: 61,261,721 (GRCm39) |
K26I |
possibly damaging |
Het |
| Trappc10 |
A |
T |
10: 78,034,869 (GRCm39) |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,332,419 (GRCm39) |
W204R |
possibly damaging |
Het |
| Trpm3 |
A |
G |
19: 22,866,776 (GRCm39) |
T536A |
possibly damaging |
Het |
| Ttbk1 |
G |
A |
17: 46,757,256 (GRCm39) |
T1126I |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,748,147 (GRCm39) |
D37G |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,896,971 (GRCm39) |
|
probably benign |
Het |
| Ubqln2 |
C |
T |
X: 152,282,692 (GRCm39) |
Q415* |
probably null |
Het |
| Ugp2 |
T |
A |
11: 21,282,540 (GRCm39) |
K151* |
probably null |
Het |
| Wasf1 |
A |
G |
10: 40,806,654 (GRCm39) |
K99R |
probably benign |
Het |
| Wnt4 |
C |
T |
4: 137,016,472 (GRCm39) |
T42M |
possibly damaging |
Het |
| Zfp54 |
T |
A |
17: 21,650,477 (GRCm39) |
D17E |
probably damaging |
Het |
|
| Other mutations in Pard3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Pard3
|
APN |
8 |
128,086,299 (GRCm39) |
splice site |
probably benign |
|
|
IGL00484:Pard3
|
APN |
8 |
128,098,327 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00674:Pard3
|
APN |
8 |
128,115,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01471:Pard3
|
APN |
8 |
128,104,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01505:Pard3
|
APN |
8 |
128,050,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Pard3
|
APN |
8 |
128,125,237 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02511:Pard3
|
APN |
8 |
127,888,070 (GRCm39) |
splice site |
probably benign |
|
|
IGL02838:Pard3
|
APN |
8 |
128,153,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02948:Pard3
|
APN |
8 |
128,032,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02987:Pard3
|
APN |
8 |
128,115,972 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03084:Pard3
|
APN |
8 |
128,319,573 (GRCm39) |
missense |
probably damaging |
0.96 |
|
BB001:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
|
BB011:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
|
R0025:Pard3
|
UTSW |
8 |
127,888,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Pard3
|
UTSW |
8 |
127,888,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Pard3
|
UTSW |
8 |
128,153,239 (GRCm39) |
splice site |
probably benign |
|
|
R0109:Pard3
|
UTSW |
8 |
128,125,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Pard3
|
UTSW |
8 |
128,103,378 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Pard3
|
UTSW |
8 |
128,337,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Pard3
|
UTSW |
8 |
128,097,967 (GRCm39) |
splice site |
probably benign |
|
|
R1055:Pard3
|
UTSW |
8 |
128,104,761 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1305:Pard3
|
UTSW |
8 |
128,032,891 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1619:Pard3
|
UTSW |
8 |
128,106,983 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1855:Pard3
|
UTSW |
8 |
128,174,293 (GRCm39) |
splice site |
probably null |
|
|
R2001:Pard3
|
UTSW |
8 |
127,791,097 (GRCm39) |
splice site |
probably null |
|
|
R2060:Pard3
|
UTSW |
8 |
128,125,085 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2064:Pard3
|
UTSW |
8 |
128,337,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Pard3
|
UTSW |
8 |
128,115,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Pard3
|
UTSW |
8 |
128,103,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2224:Pard3
|
UTSW |
8 |
128,086,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Pard3
|
UTSW |
8 |
128,337,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Pard3
|
UTSW |
8 |
128,136,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Pard3
|
UTSW |
8 |
128,200,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Pard3
|
UTSW |
8 |
128,336,939 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4243:Pard3
|
UTSW |
8 |
128,098,128 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4523:Pard3
|
UTSW |
8 |
128,125,108 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4857:Pard3
|
UTSW |
8 |
128,050,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4876:Pard3
|
UTSW |
8 |
128,287,950 (GRCm39) |
intron |
probably benign |
|
|
R4877:Pard3
|
UTSW |
8 |
128,115,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Pard3
|
UTSW |
8 |
127,800,040 (GRCm39) |
splice site |
probably null |
|
|
R5215:Pard3
|
UTSW |
8 |
128,104,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Pard3
|
UTSW |
8 |
128,186,867 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5349:Pard3
|
UTSW |
8 |
128,142,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Pard3
|
UTSW |
8 |
128,096,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Pard3
|
UTSW |
8 |
128,153,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5681:Pard3
|
UTSW |
8 |
128,115,914 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5934:Pard3
|
UTSW |
8 |
128,115,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Pard3
|
UTSW |
8 |
127,791,077 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6034:Pard3
|
UTSW |
8 |
127,791,077 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6187:Pard3
|
UTSW |
8 |
127,800,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6382:Pard3
|
UTSW |
8 |
128,103,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6774:Pard3
|
UTSW |
8 |
128,137,228 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7130:Pard3
|
UTSW |
8 |
128,142,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Pard3
|
UTSW |
8 |
128,098,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7358:Pard3
|
UTSW |
8 |
128,319,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7528:Pard3
|
UTSW |
8 |
128,329,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7537:Pard3
|
UTSW |
8 |
128,337,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Pard3
|
UTSW |
8 |
128,098,327 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7924:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
|
R8076:Pard3
|
UTSW |
8 |
128,142,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8258:Pard3
|
UTSW |
8 |
128,098,021 (GRCm39) |
nonsense |
probably null |
|
|
R8259:Pard3
|
UTSW |
8 |
128,098,021 (GRCm39) |
nonsense |
probably null |
|
|
R8345:Pard3
|
UTSW |
8 |
128,050,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8421:Pard3
|
UTSW |
8 |
127,867,158 (GRCm39) |
intron |
probably benign |
|
|
R8500:Pard3
|
UTSW |
8 |
128,186,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Pard3
|
UTSW |
8 |
128,050,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8918:Pard3
|
UTSW |
8 |
128,098,011 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9005:Pard3
|
UTSW |
8 |
128,003,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Pard3
|
UTSW |
8 |
128,136,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9643:Pard3
|
UTSW |
8 |
128,115,900 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2016-08-02 |
Incidental Mutation