Incidental Mutation 'A4554:Asap1'
ID |
107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asap1
|
Ensembl Gene |
ENSMUSG00000022377 |
Gene Name |
ArfGAP with SH3 domain, ankyrin repeat and PH domain1 |
Synonyms |
Ddef1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
A4554
of strain
gemini
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
63958706-64254768 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 63996560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023008]
[ENSMUST00000110114]
[ENSMUST00000110115]
[ENSMUST00000175793]
[ENSMUST00000175799]
[ENSMUST00000176014]
[ENSMUST00000176384]
[ENSMUST00000177374]
[ENSMUST00000177035]
[ENSMUST00000177371]
[ENSMUST00000177083]
|
AlphaFold |
Q9QWY8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023008
|
SMART Domains |
Protein: ENSMUSP00000023008 Gene: ENSMUSG00000022377
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 benign
Transcript: ENSMUST00000110114
|
SMART Domains |
Protein: ENSMUSP00000105741 Gene: ENSMUSG00000022377
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 |
probably benign
Transcript: ENSMUST00000110115
|
SMART Domains |
Protein: ENSMUSP00000105742 Gene: ENSMUSG00000022377
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 |
probably benign
Transcript: ENSMUST00000175793
|
SMART Domains |
Protein: ENSMUSP00000135718 Gene: ENSMUSG00000022377
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 benign
Transcript: ENSMUST00000175799
|
SMART Domains |
Protein: ENSMUSP00000135359 Gene: ENSMUSG00000022377
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 benign
Transcript: ENSMUST00000176014
|
SMART Domains |
Protein: ENSMUSP00000135172 Gene: ENSMUSG00000022377
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 |
probably benign
Transcript: ENSMUST00000176384
|
SMART Domains |
Protein: ENSMUSP00000135190 Gene: ENSMUSG00000022377
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 benign
Transcript: ENSMUST00000177374
|
SMART Domains |
Protein: ENSMUSP00000134825 Gene: ENSMUSG00000022377
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177035
|
SMART Domains |
Protein: ENSMUSP00000135346 Gene: ENSMUSG00000022377
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 |
probably benign
Transcript: ENSMUST00000177371
|
SMART Domains |
Protein: ENSMUSP00000135643 Gene: ENSMUSG00000022377
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 benign
Transcript: ENSMUST00000177083
|
SMART Domains |
Protein: ENSMUSP00000134877 Gene: ENSMUSG00000022377
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 |
noncoding transcript
Transcript: ENSMUST00000177475
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176427
|
Coding Region Coverage |
|
Validation Efficiency |
84% (92/109) |
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bpifb5 |
A |
T |
2: 154,069,100 (GRCm39) |
Y139F |
possibly damaging |
Homo |
Chd2 |
A |
C |
7: 73,130,716 (GRCm39) |
V782G |
probably benign |
Homo |
Chst4 |
G |
T |
8: 110,756,520 (GRCm39) |
Q448K |
probably benign |
Homo |
Dido1 |
T |
C |
2: 180,317,164 (GRCm39) |
K8E |
probably damaging |
Homo |
Evpl |
A |
G |
11: 116,111,660 (GRCm39) |
L2010P |
probably damaging |
Homo |
Fgl2 |
A |
G |
5: 21,577,776 (GRCm39) |
E21G |
probably benign |
Homo |
Greb1l |
A |
T |
18: 10,532,862 (GRCm39) |
M919L |
possibly damaging |
Homo |
Kel |
T |
A |
6: 41,674,353 (GRCm39) |
D359V |
possibly damaging |
Homo |
Lmtk2 |
A |
G |
5: 144,103,135 (GRCm39) |
D298G |
possibly damaging |
Homo |
Masp1 |
A |
T |
16: 23,273,690 (GRCm39) |
|
probably null |
Homo |
Mrgprb8 |
A |
T |
7: 48,039,156 (GRCm39) |
I276F |
probably damaging |
Homo |
Nde1 |
T |
C |
16: 14,006,274 (GRCm39) |
|
probably benign |
Homo |
Rbck1 |
G |
T |
2: 152,161,092 (GRCm39) |
N385K |
probably damaging |
Homo |
Senp6 |
G |
T |
9: 80,055,740 (GRCm39) |
|
probably benign |
Het |
Tm4sf4 |
T |
A |
3: 57,345,188 (GRCm39) |
|
probably null |
Homo |
Ubn2 |
A |
T |
6: 38,461,045 (GRCm39) |
H488L |
probably damaging |
Homo |
Vmn2r120 |
A |
G |
17: 57,832,715 (GRCm39) |
F155L |
probably benign |
Homo |
Vmn2r65 |
T |
A |
7: 84,595,791 (GRCm39) |
T298S |
probably damaging |
Homo |
|
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 |
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 |
R9462:Asap1
|
UTSW |
15 |
64,038,328 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified an A to G transition at base pair 63956273 in the Genbank genomic region NC_000081 for the Asap1 gene on chromosome 15 (GTAATGACTC ->GTAATGGCTC). The mutation is located within intron 18, seven nucleotides from the previous exon 18 (from the ATG exon). The Asap1 transcript contains 31 total exons. Three transcripts of the Asap1 gene are displayed on Ensembl. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The Asap1 gene encodes an 1147 amino acid protein that functions as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types. ASAP1 posseses phosphatidylinositol 4,5-biphosphate (PIP 2)-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5, and a lesser activity towards ARF6. ASAP1 coordinates membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP 2. The protein contains two ANK repeats, an ARF-GAP domain, a pleckstrin homology (PH) domain and an SH3 domain (Uniprot Q9QWY8).
|
Posted On |
2010-03-16 |