Incidental Mutation 'IGL01505:Pard3'
| ID | 89045 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Pard3
|
|---|
| Ensembl Gene |
ENSMUSG00000025812 |
|---|
| Gene Name | par-3 family cell polarity regulator |
|---|
| Synonyms | ASIP, PAR-3, Pard3a, Par3, D8Ertd580e |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Essential (E-score: 1.000)
|
|---|
| Stock # | IGL01505
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 8 |
|---|
| Chromosomal Location | 127063893-127612286 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to A
at 127324063 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Leucine to Histidine
at position 202
(L202H)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124282
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026921]
[ENSMUST00000079777]
[ENSMUST00000108752]
[ENSMUST00000159537]
[ENSMUST00000159818]
[ENSMUST00000160272]
[ENSMUST00000160581]
[ENSMUST00000160717]
[ENSMUST00000160766]
[ENSMUST00000161355]
[ENSMUST00000162309]
[ENSMUST00000162531]
[ENSMUST00000162907]
[ENSMUST00000162456]
[ENSMUST00000162602]
[ENSMUST00000162536]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026921
AA Change: L202H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: L202H
| 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 damaging
Transcript: ENSMUST00000079777
AA Change: L67H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000078710
Gene: ENSMUSG00000025812
AA Change: L67H
| 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 damaging
Transcript: ENSMUST00000108752
AA Change: L67H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000104383
Gene: ENSMUSG00000025812
AA Change: L67H
| 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
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124934
Gene: ENSMUSG00000025812
| 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 damaging
Transcript: ENSMUST00000160272
AA Change: L202H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: L202H
| 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: L205H
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124141
Gene: ENSMUSG00000025812
AA Change: L205H
| 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 |
noncoding transcript
Transcript: ENSMUST00000160593
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160717
AA Change: L67H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125612
Gene: ENSMUSG00000025812
AA Change: L67H
| 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: ENSMUST00000160766
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
| 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: ENSMUST00000161277
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124789
Gene: ENSMUSG00000025812
| 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 damaging
Transcript: ENSMUST00000161355
AA Change: L202H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125064
Gene: ENSMUSG00000025812
AA Change: L202H
| 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 damaging
Transcript: ENSMUST00000162309
AA Change: L202H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: L202H
| 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 |
probably damaging
Transcript: ENSMUST00000162531
AA Change: L202H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125610
Gene: ENSMUSG00000025812
AA Change: L202H
| 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 damaging
Transcript: ENSMUST00000162907
AA Change: L202H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124319
Gene: ENSMUSG00000025812
AA Change: L202H
| 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 damaging
Transcript: ENSMUST00000162456
AA Change: L67H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124162
Gene: ENSMUSG00000025812
AA Change: L67H
| 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 damaging
Transcript: ENSMUST00000162602
AA Change: L202H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125450
Gene: ENSMUSG00000025812
AA Change: L202H
| 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 |
unknown
Transcript: ENSMUST00000162665
AA Change: L221H
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: L221H
| 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 |
probably benign
Transcript: ENSMUST00000162536
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
| 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 |
|
|---|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
T |
C |
18: 68,947,347 |
|
probably null |
Het |
| A2m |
A |
G |
6: 121,676,947 |
N1413S |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 80,026,542 |
N488Y |
probably benign |
Het |
| Arid4a |
G |
A |
12: 71,037,115 |
D94N |
probably damaging |
Het |
| Atp7a |
A |
G |
X: 106,109,830 |
K1114E |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,028,063 |
V275M |
probably benign |
Het |
| Ceacam12 |
T |
C |
7: 18,067,432 |
V112A |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,318,049 |
D2256V |
probably benign |
Het |
| Chid1 |
A |
T |
7: 141,513,894 |
|
probably null |
Het |
| Clcn5 |
A |
T |
X: 7,170,439 |
L268* |
probably null |
Het |
| Cldn17 |
A |
G |
16: 88,506,703 |
I46T |
possibly damaging |
Het |
| Cnot1 |
A |
T |
8: 95,728,718 |
I2025N |
probably damaging |
Het |
| Cntn5 |
C |
T |
9: 9,706,087 |
V574M |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,455,223 |
C1373S |
unknown |
Het |
| Col9a1 |
A |
G |
1: 24,185,124 |
N129S |
unknown |
Het |
| Cp |
C |
T |
3: 19,977,192 |
P598S |
possibly damaging |
Het |
| Cpb1 |
G |
A |
3: 20,266,246 |
R150C |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,227,680 |
|
probably null |
Het |
| Dnajb7 |
T |
C |
15: 81,407,491 |
E215G |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 135,158,510 |
R1634Q |
possibly damaging |
Het |
| Dopey2 |
A |
G |
16: 93,757,116 |
T313A |
possibly damaging |
Het |
| Fgd2 |
T |
A |
17: 29,366,997 |
V185E |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,902,003 |
|
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,483,903 |
E315G |
probably benign |
Het |
| Gjc1 |
T |
A |
11: 102,800,726 |
K150N |
probably benign |
Het |
| Gm436 |
C |
T |
4: 144,674,618 |
V99M |
probably damaging |
Het |
| Gpihbp1 |
C |
T |
15: 75,598,128 |
|
probably benign |
Het |
| Gpr160 |
T |
C |
3: 30,895,853 |
S25P |
possibly damaging |
Het |
| Grsf1 |
G |
A |
5: 88,672,749 |
R58* |
probably null |
Het |
| Ifit1 |
T |
A |
19: 34,648,454 |
M330K |
probably benign |
Het |
| Igkv1-122 |
T |
C |
6: 68,017,194 |
V22A |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,255,311 |
D692E |
probably benign |
Het |
| Il15ra |
T |
C |
2: 11,733,145 |
|
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,537,084 |
I252V |
probably damaging |
Het |
| Klra10 |
C |
T |
6: 130,272,717 |
G202R |
probably damaging |
Het |
| Kpna7 |
A |
G |
5: 144,992,851 |
V388A |
probably damaging |
Het |
| L2hgdh |
A |
G |
12: 69,721,401 |
S108P |
probably damaging |
Het |
| Msto1 |
G |
A |
3: 88,910,743 |
T388M |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,425,933 |
E908G |
probably damaging |
Het |
| Neto1 |
C |
A |
18: 86,473,689 |
D238E |
possibly damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,417,734 |
D294E |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 76,909,187 |
S306P |
probably damaging |
Het |
| Olfr890 |
T |
A |
9: 38,143,871 |
C240* |
probably null |
Het |
| Pdzd2 |
T |
C |
15: 12,458,207 |
N190S |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,309,358 |
D1077G |
probably benign |
Het |
| Pmfbp1 |
A |
C |
8: 109,513,911 |
L208F |
probably damaging |
Het |
| Pms1 |
C |
T |
1: 53,206,971 |
D470N |
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,327,282 |
F108L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,154,776 |
M327K |
possibly damaging |
Het |
| Slc37a4 |
T |
A |
9: 44,399,964 |
L184Q |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,347,893 |
|
probably benign |
Het |
| Smg6 |
A |
G |
11: 75,156,291 |
Y1270C |
probably damaging |
Het |
| Speer4f2 |
T |
A |
5: 17,376,567 |
V169E |
possibly damaging |
Het |
| Stpg2 |
C |
T |
3: 139,317,453 |
A410V |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,879,963 |
D555E |
probably benign |
Het |
| Tsg101 |
A |
G |
7: 46,909,060 |
Y46H |
probably damaging |
Het |
| Vmn2r111 |
G |
A |
17: 22,548,572 |
S648L |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,858,059 |
R682* |
probably null |
Het |
| Xkr5 |
A |
T |
8: 18,933,498 |
I676N |
probably damaging |
Het |
|
|---|
| Other mutations in Pard3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Pard3
|
APN |
8 |
127359818 |
splice site |
probably benign |
|
|
IGL00484:Pard3
|
APN |
8 |
127371846 |
missense |
probably benign |
0.05 |
|
IGL00674:Pard3
|
APN |
8 |
127388678 |
missense |
probably damaging |
1.00 |
|
IGL01471:Pard3
|
APN |
8 |
127378246 |
missense |
probably benign |
0.01 |
|
IGL02252:Pard3
|
APN |
8 |
127398756 |
missense |
probably benign |
0.09 |
|
IGL02511:Pard3
|
APN |
8 |
127161320 |
splice site |
probably benign |
|
|
IGL02838:Pard3
|
APN |
8 |
127426647 |
missense |
probably damaging |
0.99 |
|
IGL02948:Pard3
|
APN |
8 |
127306494 |
missense |
probably benign |
0.00 |
|
IGL02987:Pard3
|
APN |
8 |
127389491 |
missense |
probably damaging |
0.98 |
|
IGL03037:Pard3
|
APN |
8 |
127306494 |
missense |
probably benign |
0.00 |
|
IGL03084:Pard3
|
APN |
8 |
127593092 |
missense |
probably damaging |
0.96 |
|
BB001:Pard3
|
UTSW |
8 |
127410750 |
missense |
probably benign |
|
|
BB011:Pard3
|
UTSW |
8 |
127410750 |
missense |
probably benign |
|
|
R0025:Pard3
|
UTSW |
8 |
127161308 |
missense |
probably damaging |
1.00 |
|
R0025:Pard3
|
UTSW |
8 |
127161308 |
missense |
probably damaging |
1.00 |
|
R0029:Pard3
|
UTSW |
8 |
127426758 |
splice site |
probably benign |
|
|
R0109:Pard3
|
UTSW |
8 |
127398666 |
missense |
probably damaging |
1.00 |
|
R0309:Pard3
|
UTSW |
8 |
127376897 |
splice site |
probably benign |
|
|
R0415:Pard3
|
UTSW |
8 |
127610566 |
missense |
probably damaging |
1.00 |
|
R0507:Pard3
|
UTSW |
8 |
127371486 |
splice site |
probably benign |
|
|
R1055:Pard3
|
UTSW |
8 |
127378280 |
missense |
probably benign |
0.34 |
|
R1305:Pard3
|
UTSW |
8 |
127306410 |
missense |
possibly damaging |
0.62 |
|
R1619:Pard3
|
UTSW |
8 |
127380502 |
missense |
probably benign |
0.02 |
|
R1855:Pard3
|
UTSW |
8 |
127447812 |
splice site |
probably null |
|
|
R2001:Pard3
|
UTSW |
8 |
127064347 |
splice site |
probably null |
|
|
R2060:Pard3
|
UTSW |
8 |
127398604 |
missense |
probably benign |
0.05 |
|
R2064:Pard3
|
UTSW |
8 |
127610611 |
missense |
probably damaging |
1.00 |
|
R2113:Pard3
|
UTSW |
8 |
127388537 |
missense |
probably damaging |
1.00 |
|
R2136:Pard3
|
UTSW |
8 |
127376885 |
critical splice donor site |
probably null |
|
|
R2224:Pard3
|
UTSW |
8 |
127359776 |
missense |
probably damaging |
1.00 |
|
R2252:Pard3
|
UTSW |
8 |
127610599 |
missense |
probably damaging |
1.00 |
|
R3870:Pard3
|
UTSW |
8 |
127409686 |
missense |
probably damaging |
1.00 |
|
R4154:Pard3
|
UTSW |
8 |
127474396 |
missense |
probably damaging |
1.00 |
|
R4212:Pard3
|
UTSW |
8 |
127610458 |
missense |
probably benign |
0.43 |
|
R4243:Pard3
|
UTSW |
8 |
127371647 |
missense |
probably benign |
0.09 |
|
R4523:Pard3
|
UTSW |
8 |
127398627 |
missense |
probably benign |
0.08 |
|
R4857:Pard3
|
UTSW |
8 |
127324054 |
missense |
probably damaging |
0.98 |
|
R4876:Pard3
|
UTSW |
8 |
127561469 |
intron |
probably benign |
|
|
R4877:Pard3
|
UTSW |
8 |
127388537 |
missense |
probably damaging |
1.00 |
|
R5197:Pard3
|
UTSW |
8 |
127073290 |
splice site |
probably null |
|
|
R5215:Pard3
|
UTSW |
8 |
127378264 |
missense |
probably damaging |
1.00 |
|
R5279:Pard3
|
UTSW |
8 |
127460386 |
critical splice donor site |
probably null |
|
|
R5349:Pard3
|
UTSW |
8 |
127415743 |
missense |
probably damaging |
1.00 |
|
R5479:Pard3
|
UTSW |
8 |
127370355 |
missense |
probably damaging |
1.00 |
|
R5514:Pard3
|
UTSW |
8 |
127426605 |
missense |
probably damaging |
1.00 |
|
R5681:Pard3
|
UTSW |
8 |
127389433 |
missense |
possibly damaging |
0.81 |
|
R5934:Pard3
|
UTSW |
8 |
127389338 |
missense |
probably damaging |
1.00 |
|
R6034:Pard3
|
UTSW |
8 |
127064327 |
utr 5 prime |
probably benign |
|
|
R6034:Pard3
|
UTSW |
8 |
127064327 |
utr 5 prime |
probably benign |
|
|
R6187:Pard3
|
UTSW |
8 |
127073273 |
missense |
probably benign |
0.00 |
|
R6382:Pard3
|
UTSW |
8 |
127376783 |
missense |
probably damaging |
1.00 |
|
R6774:Pard3
|
UTSW |
8 |
127410747 |
missense |
probably damaging |
0.98 |
|
R7130:Pard3
|
UTSW |
8 |
127415683 |
missense |
probably damaging |
1.00 |
|
R7267:Pard3
|
UTSW |
8 |
127371575 |
missense |
probably damaging |
0.97 |
|
R7358:Pard3
|
UTSW |
8 |
127593092 |
missense |
probably damaging |
0.98 |
|
R7528:Pard3
|
UTSW |
8 |
127603165 |
missense |
probably damaging |
1.00 |
|
R7537:Pard3
|
UTSW |
8 |
127610582 |
missense |
probably damaging |
1.00 |
|
R7679:Pard3
|
UTSW |
8 |
127371846 |
missense |
probably benign |
0.05 |
|
R7924:Pard3
|
UTSW |
8 |
127410750 |
missense |
probably benign |
|
|
R8076:Pard3
|
UTSW |
8 |
127415596 |
missense |
probably damaging |
1.00 |
|
R8258:Pard3
|
UTSW |
8 |
127371540 |
nonsense |
probably null |
|
|
R8259:Pard3
|
UTSW |
8 |
127371540 |
nonsense |
probably null |
|
|
R8345:Pard3
|
UTSW |
8 |
127324068 |
missense |
probably damaging |
1.00 |
|
R8421:Pard3
|
UTSW |
8 |
127140408 |
intron |
probably benign |
|
|
R8500:Pard3
|
UTSW |
8 |
127460303 |
missense |
probably damaging |
1.00 |
|
|---|
| Posted On | 2013-12-03 |
|---|
