Incidental Mutation 'R9462:Asap1'
| ID |
714964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asap1
|
| Ensembl Gene |
ENSMUSG00000022377 |
| Gene Name |
ArfGAP with SH3 domain, ankyrin repeat and PH domain1 |
| Synonyms |
Ddef1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R9462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
63958706-64254768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64038328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 223
(Y223H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023008]
[ENSMUST00000110114]
[ENSMUST00000110115]
[ENSMUST00000175793]
[ENSMUST00000175799]
[ENSMUST00000176014]
[ENSMUST00000177371]
[ENSMUST00000176384]
[ENSMUST00000177035]
[ENSMUST00000177083]
[ENSMUST00000177374]
|
| AlphaFold |
Q9QWY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023008
AA Change: Y243H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023008
Gene: ENSMUSG00000022377
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
164 |
N/A |
INTRINSIC |
|
PH
|
340 |
433 |
4.12e-15 |
SMART |
|
ArfGap
|
454 |
577 |
2.18e-34 |
SMART |
|
ANK
|
615 |
647 |
1.17e-1 |
SMART |
|
ANK
|
651 |
680 |
3.46e-4 |
SMART |
|
low complexity region
|
727 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
903 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1077 |
N/A |
INTRINSIC |
|
SH3
|
1088 |
1146 |
3.29e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110114
AA Change: Y243H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105741
Gene: ENSMUSG00000022377
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
164 |
N/A |
INTRINSIC |
|
PH
|
340 |
433 |
4.12e-15 |
SMART |
|
ArfGap
|
454 |
577 |
2.18e-34 |
SMART |
|
ANK
|
615 |
647 |
1.17e-1 |
SMART |
|
ANK
|
651 |
680 |
3.46e-4 |
SMART |
|
low complexity region
|
727 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
846 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1020 |
N/A |
INTRINSIC |
|
SH3
|
1031 |
1089 |
3.29e-17 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110115
AA Change: Y243H
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105742
Gene: ENSMUSG00000022377
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
164 |
N/A |
INTRINSIC |
|
PH
|
325 |
418 |
4.12e-15 |
SMART |
|
ArfGap
|
439 |
562 |
2.18e-34 |
SMART |
|
ANK
|
600 |
632 |
1.17e-1 |
SMART |
|
ANK
|
636 |
665 |
3.46e-4 |
SMART |
|
low complexity region
|
712 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
850 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
956 |
969 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1062 |
N/A |
INTRINSIC |
|
SH3
|
1073 |
1131 |
3.29e-17 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175793
AA Change: Y243H
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135718
Gene: ENSMUSG00000022377
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
164 |
N/A |
INTRINSIC |
|
PH
|
328 |
421 |
4.12e-15 |
SMART |
|
ArfGap
|
442 |
565 |
2.18e-34 |
SMART |
|
ANK
|
603 |
635 |
1.17e-1 |
SMART |
|
ANK
|
639 |
668 |
3.46e-4 |
SMART |
|
low complexity region
|
715 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
835 |
N/A |
INTRINSIC |
|
low complexity region
|
844 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
891 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
1053 |
1065 |
N/A |
INTRINSIC |
|
SH3
|
1076 |
1134 |
3.29e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175799
AA Change: Y243H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135359
Gene: ENSMUSG00000022377
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
164 |
N/A |
INTRINSIC |
|
PH
|
337 |
430 |
4.12e-15 |
SMART |
|
ArfGap
|
451 |
574 |
2.18e-34 |
SMART |
|
ANK
|
612 |
644 |
1.17e-1 |
SMART |
|
ANK
|
648 |
677 |
3.46e-4 |
SMART |
|
low complexity region
|
724 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
924 |
N/A |
INTRINSIC |
|
low complexity region
|
1005 |
1017 |
N/A |
INTRINSIC |
|
SH3
|
1028 |
1086 |
3.29e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176014
AA Change: Y243H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135172
Gene: ENSMUSG00000022377
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
164 |
N/A |
INTRINSIC |
|
PH
|
337 |
430 |
4.12e-15 |
SMART |
|
ArfGap
|
451 |
574 |
2.18e-34 |
SMART |
|
ANK
|
612 |
644 |
1.17e-1 |
SMART |
|
ANK
|
648 |
677 |
3.46e-4 |
SMART |
|
low complexity region
|
724 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
981 |
N/A |
INTRINSIC |
|
low complexity region
|
1062 |
1074 |
N/A |
INTRINSIC |
|
SH3
|
1085 |
1143 |
3.29e-17 |
SMART |
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177371
AA Change: Y223H
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135643
Gene: ENSMUSG00000022377
AA Change: Y223H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
144 |
N/A |
INTRINSIC |
|
PH
|
317 |
410 |
4.12e-15 |
SMART |
|
ArfGap
|
431 |
554 |
2.18e-34 |
SMART |
|
ANK
|
592 |
624 |
1.17e-1 |
SMART |
|
ANK
|
628 |
657 |
3.46e-4 |
SMART |
|
low complexity region
|
704 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
769 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
948 |
961 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1054 |
N/A |
INTRINSIC |
|
SH3
|
1065 |
1123 |
3.29e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176384
AA Change: Y243H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135190
Gene: ENSMUSG00000022377
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
328 |
N/A |
INTRINSIC |
|
PH
|
340 |
433 |
4.12e-15 |
SMART |
|
ArfGap
|
454 |
577 |
2.18e-34 |
SMART |
|
ANK
|
615 |
647 |
1.17e-1 |
SMART |
|
ANK
|
651 |
680 |
3.46e-4 |
SMART |
|
low complexity region
|
727 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
846 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1020 |
N/A |
INTRINSIC |
|
SH3
|
1031 |
1089 |
3.29e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177035
AA Change: Y243H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135346
Gene: ENSMUSG00000022377
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
164 |
N/A |
INTRINSIC |
|
PH
|
325 |
418 |
4.12e-15 |
SMART |
|
ArfGap
|
439 |
562 |
2.18e-34 |
SMART |
|
ANK
|
600 |
632 |
1.17e-1 |
SMART |
|
ANK
|
636 |
665 |
3.46e-4 |
SMART |
|
low complexity region
|
712 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
912 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1005 |
N/A |
INTRINSIC |
|
SH3
|
1016 |
1074 |
3.29e-17 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177083
AA Change: Y223H
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134877
Gene: ENSMUSG00000022377
AA Change: Y223H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
144 |
N/A |
INTRINSIC |
|
PH
|
305 |
398 |
4.12e-15 |
SMART |
|
ArfGap
|
419 |
542 |
2.18e-34 |
SMART |
|
ANK
|
580 |
612 |
1.17e-1 |
SMART |
|
ANK
|
616 |
645 |
3.46e-4 |
SMART |
|
low complexity region
|
692 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
757 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
949 |
N/A |
INTRINSIC |
|
low complexity region
|
1030 |
1042 |
N/A |
INTRINSIC |
|
SH3
|
1053 |
1111 |
3.29e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177374
AA Change: Y243H
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134825
Gene: ENSMUSG00000022377
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:BAR
|
18 |
267 |
1.8e-11 |
PFAM |
|
Pfam:BAR_3
|
52 |
286 |
1.2e-29 |
PFAM |
|
low complexity region
|
310 |
328 |
N/A |
INTRINSIC |
|
PH
|
340 |
433 |
4.12e-15 |
SMART |
|
ArfGap
|
454 |
577 |
2.18e-34 |
SMART |
|
ANK
|
615 |
647 |
1.17e-1 |
SMART |
|
ANK
|
651 |
680 |
3.46e-4 |
SMART |
|
low complexity region
|
727 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
903 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1077 |
N/A |
INTRINSIC |
|
SH3
|
1088 |
1146 |
3.29e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
All alleles(13) : Gene trapped(13) |
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
G |
A |
4: 103,092,964 (GRCm39) |
T220I |
probably benign |
Het |
| Abca8b |
T |
A |
11: 109,844,433 (GRCm39) |
H928L |
|
Het |
| Ahnak |
A |
T |
19: 8,981,299 (GRCm39) |
D861V |
probably damaging |
Het |
| Ahnak2 |
C |
A |
12: 112,750,655 (GRCm39) |
R89L |
|
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Anks6 |
A |
G |
4: 47,033,142 (GRCm39) |
L573P |
unknown |
Het |
| Ano5 |
T |
C |
7: 51,235,200 (GRCm39) |
V711A |
probably benign |
Het |
| Arl2bp |
C |
A |
8: 95,398,755 (GRCm39) |
A120D |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,490,160 (GRCm39) |
M1151K |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,271,438 (GRCm39) |
L28Q |
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,868,519 (GRCm39) |
K856E |
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,608,600 (GRCm39) |
D94G |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,060 (GRCm39) |
I368T |
possibly damaging |
Het |
| Cdhr17 |
G |
T |
5: 17,027,213 (GRCm39) |
A379S |
|
Het |
| Cfap54 |
T |
C |
10: 92,737,920 (GRCm39) |
Q2326R |
unknown |
Het |
| Chrm3 |
T |
C |
13: 9,927,437 (GRCm39) |
Y533C |
|
Het |
| Ckap4 |
C |
T |
10: 84,363,924 (GRCm39) |
E380K |
possibly damaging |
Het |
| Cntnap2 |
T |
C |
6: 46,211,217 (GRCm39) |
F544L |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,591,695 (GRCm39) |
K596R |
probably benign |
Het |
| Cyp26c1 |
A |
G |
19: 37,681,634 (GRCm39) |
E479G |
probably damaging |
Het |
| Deup1 |
A |
G |
9: 15,493,882 (GRCm39) |
V420A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,551,523 (GRCm39) |
V2932A |
probably benign |
Het |
| Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
| Eef1e1 |
A |
G |
13: 38,838,997 (GRCm39) |
L120P |
probably damaging |
Het |
| Elane |
T |
C |
10: 79,723,883 (GRCm39) |
S244P |
probably benign |
Het |
| Esp6 |
A |
G |
17: 40,876,315 (GRCm39) |
E121G |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,299,775 (GRCm39) |
E326G |
probably damaging |
Het |
| Fut2 |
G |
T |
7: 45,300,492 (GRCm39) |
N93K |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,761,330 (GRCm39) |
S461P |
|
Het |
| Gm12695 |
A |
G |
4: 96,651,075 (GRCm39) |
V126A |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,221,469 (GRCm39) |
|
probably null |
Het |
| Hbs1l |
T |
C |
10: 21,218,304 (GRCm39) |
V267A |
probably damaging |
Het |
| Hsd17b1 |
A |
T |
11: 100,969,806 (GRCm39) |
N106I |
possibly damaging |
Het |
| Ino80d |
G |
A |
1: 63,097,393 (GRCm39) |
L939F |
probably damaging |
Het |
| Lilra6 |
A |
G |
7: 3,914,994 (GRCm39) |
W505R |
probably damaging |
Het |
| Map3k14 |
T |
A |
11: 103,118,360 (GRCm39) |
K609* |
probably null |
Het |
| Mark1 |
T |
A |
1: 184,651,868 (GRCm39) |
K212N |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,415,216 (GRCm39) |
C2721S |
|
Het |
| Myh4 |
A |
G |
11: 67,141,811 (GRCm39) |
D890G |
possibly damaging |
Het |
| Mylk2 |
T |
G |
2: 152,761,373 (GRCm39) |
L492R |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,729 (GRCm39) |
Y1134* |
probably null |
Het |
| N4bp2 |
G |
A |
5: 65,947,898 (GRCm39) |
G176D |
probably benign |
Het |
| Ncstn |
A |
C |
1: 171,899,707 (GRCm39) |
M325R |
probably damaging |
Het |
| Ndor1 |
C |
T |
2: 25,144,875 (GRCm39) |
|
probably null |
Het |
| Notch4 |
G |
A |
17: 34,806,667 (GRCm39) |
R1868H |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or2b2b |
A |
T |
13: 21,859,015 (GRCm39) |
V33E |
probably benign |
Het |
| Or8s16 |
T |
A |
15: 98,211,186 (GRCm39) |
N82Y |
possibly damaging |
Het |
| Oxct2a |
G |
T |
4: 123,216,441 (GRCm39) |
D313E |
probably damaging |
Het |
| Pcdha2 |
T |
A |
18: 37,073,546 (GRCm39) |
H392Q |
probably benign |
Het |
| Pcdhb20 |
T |
G |
18: 37,639,799 (GRCm39) |
L775R |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,840,408 (GRCm39) |
D1449G |
|
Het |
| Pcx |
A |
G |
19: 4,651,970 (GRCm39) |
T73A |
probably benign |
Het |
| Pou6f2 |
A |
G |
13: 18,314,189 (GRCm39) |
S395P |
probably benign |
Het |
| Prss35 |
C |
G |
9: 86,638,392 (GRCm39) |
I387M |
|
Het |
| Radil |
C |
A |
5: 142,471,220 (GRCm39) |
D1019Y |
probably damaging |
Het |
| Rnf40 |
G |
T |
7: 127,191,010 (GRCm39) |
|
probably null |
Het |
| Scarb1 |
A |
T |
5: 125,417,891 (GRCm39) |
L19Q |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,930,159 (GRCm39) |
F1457I |
|
Het |
| Sdk2 |
C |
T |
11: 113,760,744 (GRCm39) |
V339I |
possibly damaging |
Het |
| Siglec1 |
A |
G |
2: 130,916,404 (GRCm39) |
L1182P |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,194,131 (GRCm39) |
V204I |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,243 (GRCm39) |
S266P |
probably benign |
Het |
| Spata21 |
A |
G |
4: 140,831,316 (GRCm39) |
E421G |
probably damaging |
Het |
| Sulf1 |
C |
T |
1: 12,929,459 (GRCm39) |
P242L |
probably damaging |
Het |
| Sval3 |
G |
A |
6: 41,945,105 (GRCm39) |
G11E |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,248,576 (GRCm39) |
Y1942F |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,890,243 (GRCm39) |
G1121D |
probably damaging |
Het |
| Thrap3 |
G |
T |
4: 126,070,048 (GRCm39) |
S613* |
probably null |
Het |
| Ttc34 |
A |
C |
4: 154,942,539 (GRCm39) |
K59Q |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,929,957 (GRCm39) |
L1428H |
possibly damaging |
Het |
| Ube4b |
A |
T |
4: 149,444,748 (GRCm39) |
L504Q |
probably damaging |
Het |
| Uncx |
A |
T |
5: 139,529,771 (GRCm39) |
E8V |
probably damaging |
Het |
| Vmn1r79 |
A |
T |
7: 11,910,261 (GRCm39) |
I48F |
probably damaging |
Het |
| Vmn2r99 |
C |
A |
17: 19,598,388 (GRCm39) |
Y137* |
probably null |
Het |
| Zfp354b |
G |
A |
11: 50,814,523 (GRCm39) |
T134I |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,051,510 (GRCm39) |
V764I |
possibly damaging |
Het |
| Zfp873 |
T |
G |
10: 81,897,131 (GRCm39) |
C621G |
probably benign |
Het |
|
| Other mutations in Asap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Asap1
|
APN |
15 |
63,991,803 (GRCm39) |
splice site |
probably benign |
|
|
IGL00473:Asap1
|
APN |
15 |
64,045,064 (GRCm39) |
splice site |
probably benign |
|
|
IGL00519:Asap1
|
APN |
15 |
63,982,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01304:Asap1
|
APN |
15 |
64,184,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01510:Asap1
|
APN |
15 |
64,030,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02208:Asap1
|
APN |
15 |
63,993,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02338:Asap1
|
APN |
15 |
63,995,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02429:Asap1
|
APN |
15 |
64,039,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02565:Asap1
|
APN |
15 |
64,001,014 (GRCm39) |
splice site |
probably benign |
|
|
IGL02644:Asap1
|
APN |
15 |
63,982,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02684:Asap1
|
APN |
15 |
63,966,018 (GRCm39) |
missense |
probably benign |
|
|
IGL02707:Asap1
|
APN |
15 |
64,001,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03052:Asap1
|
APN |
15 |
64,025,683 (GRCm39) |
splice site |
probably benign |
|
|
IGL03153:Asap1
|
APN |
15 |
64,032,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
A4554:Asap1
|
UTSW |
15 |
63,996,560 (GRCm39) |
splice site |
probably benign |
|
|
PIT4378001:Asap1
|
UTSW |
15 |
64,007,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0081:Asap1
|
UTSW |
15 |
63,971,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Asap1
|
UTSW |
15 |
63,966,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1414:Asap1
|
UTSW |
15 |
64,030,733 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1437:Asap1
|
UTSW |
15 |
63,991,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1474:Asap1
|
UTSW |
15 |
63,991,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1489:Asap1
|
UTSW |
15 |
64,044,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Asap1
|
UTSW |
15 |
64,024,701 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1603:Asap1
|
UTSW |
15 |
64,001,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1636:Asap1
|
UTSW |
15 |
63,995,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Asap1
|
UTSW |
15 |
63,961,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1861:Asap1
|
UTSW |
15 |
64,007,647 (GRCm39) |
splice site |
probably benign |
|
|
R2136:Asap1
|
UTSW |
15 |
63,982,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Asap1
|
UTSW |
15 |
64,007,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4436:Asap1
|
UTSW |
15 |
64,221,692 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4618:Asap1
|
UTSW |
15 |
64,024,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Asap1
|
UTSW |
15 |
63,966,030 (GRCm39) |
missense |
probably benign |
|
|
R5077:Asap1
|
UTSW |
15 |
63,999,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5333:Asap1
|
UTSW |
15 |
63,999,263 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5391:Asap1
|
UTSW |
15 |
63,965,901 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5493:Asap1
|
UTSW |
15 |
64,002,000 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5665:Asap1
|
UTSW |
15 |
64,184,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Asap1
|
UTSW |
15 |
64,039,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Asap1
|
UTSW |
15 |
63,966,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Asap1
|
UTSW |
15 |
64,038,388 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6194:Asap1
|
UTSW |
15 |
64,001,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Asap1
|
UTSW |
15 |
64,221,672 (GRCm39) |
splice site |
probably null |
|
|
R6751:Asap1
|
UTSW |
15 |
63,966,261 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7143:Asap1
|
UTSW |
15 |
64,063,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7218:Asap1
|
UTSW |
15 |
64,002,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7225:Asap1
|
UTSW |
15 |
64,002,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Asap1
|
UTSW |
15 |
64,002,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Asap1
|
UTSW |
15 |
63,971,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7439:Asap1
|
UTSW |
15 |
64,002,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7441:Asap1
|
UTSW |
15 |
64,002,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Asap1
|
UTSW |
15 |
63,991,974 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7597:Asap1
|
UTSW |
15 |
64,184,304 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7708:Asap1
|
UTSW |
15 |
64,024,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Asap1
|
UTSW |
15 |
63,963,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7990:Asap1
|
UTSW |
15 |
64,044,586 (GRCm39) |
splice site |
probably null |
|
|
R8163:Asap1
|
UTSW |
15 |
63,963,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Asap1
|
UTSW |
15 |
63,982,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Asap1
|
UTSW |
15 |
64,002,072 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8778:Asap1
|
UTSW |
15 |
63,999,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTGTAGAGGTAGACATTGC -3'
(R):5'- ACAAAGCTCACCTACCTGGG -3'
Sequencing Primer
(F):5'- GAGGTAGACATTGCTTCAGAATC -3'
(R):5'- ACCTACCTGGGCCGGTTTAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation