Incidental Mutation 'IGL01084:Arhgap40'
ID |
50453 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgap40
|
Ensembl Gene |
ENSMUSG00000074625 |
Gene Name |
Rho GTPase activating protein 40 |
Synonyms |
Gm14203 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.442)
|
Stock # |
IGL01084
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
158354716-158392682 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 158385138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 457
(F457S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099133]
[ENSMUST00000165398]
|
AlphaFold |
E9Q6X9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099133
AA Change: F460S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096736 Gene: ENSMUSG00000074625 AA Change: F460S
Domain | Start | End | E-Value | Type |
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
RhoGAP
|
340 |
519 |
1.84e-47 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135838
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165398
AA Change: F457S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130349 Gene: ENSMUSG00000074625 AA Change: F457S
Domain | Start | End | E-Value | Type |
low complexity region
|
120 |
140 |
N/A |
INTRINSIC |
RhoGAP
|
337 |
516 |
1.84e-47 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aagab |
C |
A |
9: 63,546,901 (GRCm39) |
Q284K |
probably damaging |
Het |
Adgrd1 |
A |
T |
5: 129,216,656 (GRCm39) |
N341I |
probably benign |
Het |
Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
Catsper1 |
G |
A |
19: 5,387,800 (GRCm39) |
V360M |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,969,839 (GRCm39) |
|
probably benign |
Het |
Cep250 |
C |
T |
2: 155,840,313 (GRCm39) |
H2424Y |
probably benign |
Het |
Cln3 |
T |
C |
7: 126,174,426 (GRCm39) |
E304G |
probably damaging |
Het |
Eml2 |
T |
A |
7: 18,924,663 (GRCm39) |
C177* |
probably null |
Het |
Epha5 |
G |
A |
5: 84,218,946 (GRCm39) |
R917* |
probably null |
Het |
Gabra2 |
A |
G |
5: 71,163,576 (GRCm39) |
F244L |
probably damaging |
Het |
Gars1 |
C |
A |
6: 55,032,812 (GRCm39) |
D261E |
probably benign |
Het |
Gata3os |
A |
G |
2: 9,887,884 (GRCm39) |
|
probably benign |
Het |
Keg1 |
A |
G |
19: 12,691,976 (GRCm39) |
K98E |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,904,110 (GRCm39) |
|
probably benign |
Het |
Matn1 |
A |
G |
4: 130,679,245 (GRCm39) |
K300E |
probably benign |
Het |
Mesp1 |
A |
G |
7: 79,442,831 (GRCm39) |
S149P |
probably benign |
Het |
Mmp10 |
T |
C |
9: 7,505,651 (GRCm39) |
V305A |
possibly damaging |
Het |
Muc5b |
T |
C |
7: 141,397,186 (GRCm39) |
|
probably benign |
Het |
Myof |
T |
C |
19: 37,924,884 (GRCm39) |
T1181A |
probably damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,353 (GRCm39) |
L27Q |
probably damaging |
Het |
Or5d35 |
T |
C |
2: 87,855,347 (GRCm39) |
S94P |
probably benign |
Het |
Or9i16 |
G |
T |
19: 13,864,866 (GRCm39) |
T236N |
probably damaging |
Het |
Osbpl11 |
T |
C |
16: 33,047,221 (GRCm39) |
|
probably benign |
Het |
Prune2 |
T |
C |
19: 17,095,573 (GRCm39) |
V359A |
probably benign |
Het |
Ptch1 |
T |
A |
13: 63,691,451 (GRCm39) |
E267D |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,848,941 (GRCm39) |
E1049G |
probably damaging |
Het |
Ruvbl2 |
A |
T |
7: 45,071,947 (GRCm39) |
|
probably null |
Het |
Sec23b |
A |
G |
2: 144,406,509 (GRCm39) |
I101M |
possibly damaging |
Het |
Srms |
A |
C |
2: 180,848,177 (GRCm39) |
|
probably null |
Het |
Svep1 |
T |
A |
4: 58,111,419 (GRCm39) |
T1067S |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem127 |
T |
C |
2: 127,099,006 (GRCm39) |
V180A |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
Trpv3 |
G |
A |
11: 73,184,826 (GRCm39) |
|
probably null |
Het |
Tti1 |
C |
T |
2: 157,824,379 (GRCm39) |
V1025I |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,030,433 (GRCm39) |
Y753C |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,881,525 (GRCm39) |
L1350S |
probably benign |
Het |
Zfp287 |
G |
T |
11: 62,604,716 (GRCm39) |
Y730* |
probably null |
Het |
Zfp583 |
A |
G |
7: 6,320,184 (GRCm39) |
F276S |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,921,780 (GRCm39) |
Y636H |
probably benign |
Het |
|
Other mutations in Arhgap40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Arhgap40
|
APN |
2 |
158,373,078 (GRCm39) |
missense |
probably benign |
0.41 |
IGL00547:Arhgap40
|
APN |
2 |
158,380,546 (GRCm39) |
splice site |
probably benign |
|
IGL00911:Arhgap40
|
APN |
2 |
158,376,636 (GRCm39) |
splice site |
probably benign |
|
IGL02037:Arhgap40
|
APN |
2 |
158,376,742 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02111:Arhgap40
|
APN |
2 |
158,381,764 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02131:Arhgap40
|
APN |
2 |
158,373,859 (GRCm39) |
splice site |
probably null |
|
IGL02552:Arhgap40
|
APN |
2 |
158,388,721 (GRCm39) |
missense |
probably benign |
|
PIT4305001:Arhgap40
|
UTSW |
2 |
158,373,825 (GRCm39) |
missense |
probably benign |
0.00 |
R0212:Arhgap40
|
UTSW |
2 |
158,392,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R0508:Arhgap40
|
UTSW |
2 |
158,388,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R0787:Arhgap40
|
UTSW |
2 |
158,389,710 (GRCm39) |
missense |
probably benign |
|
R1075:Arhgap40
|
UTSW |
2 |
158,391,567 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1201:Arhgap40
|
UTSW |
2 |
158,376,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Arhgap40
|
UTSW |
2 |
158,369,081 (GRCm39) |
missense |
probably benign |
|
R1519:Arhgap40
|
UTSW |
2 |
158,388,721 (GRCm39) |
missense |
probably benign |
|
R1567:Arhgap40
|
UTSW |
2 |
158,388,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R1662:Arhgap40
|
UTSW |
2 |
158,381,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R4120:Arhgap40
|
UTSW |
2 |
158,374,250 (GRCm39) |
missense |
probably benign |
0.02 |
R4592:Arhgap40
|
UTSW |
2 |
158,388,629 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4678:Arhgap40
|
UTSW |
2 |
158,374,226 (GRCm39) |
missense |
probably benign |
0.01 |
R4818:Arhgap40
|
UTSW |
2 |
158,381,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R4953:Arhgap40
|
UTSW |
2 |
158,385,326 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5108:Arhgap40
|
UTSW |
2 |
158,389,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R5578:Arhgap40
|
UTSW |
2 |
158,373,126 (GRCm39) |
missense |
probably damaging |
0.99 |
R6924:Arhgap40
|
UTSW |
2 |
158,369,066 (GRCm39) |
missense |
probably benign |
0.00 |
R6931:Arhgap40
|
UTSW |
2 |
158,373,138 (GRCm39) |
missense |
probably benign |
0.00 |
R7028:Arhgap40
|
UTSW |
2 |
158,373,294 (GRCm39) |
critical splice donor site |
probably null |
|
R7253:Arhgap40
|
UTSW |
2 |
158,389,576 (GRCm39) |
missense |
probably benign |
|
R7385:Arhgap40
|
UTSW |
2 |
158,385,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R7670:Arhgap40
|
UTSW |
2 |
158,373,845 (GRCm39) |
missense |
probably benign |
0.03 |
R7813:Arhgap40
|
UTSW |
2 |
158,380,620 (GRCm39) |
missense |
probably benign |
0.00 |
R7824:Arhgap40
|
UTSW |
2 |
158,376,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R8179:Arhgap40
|
UTSW |
2 |
158,381,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R8559:Arhgap40
|
UTSW |
2 |
158,383,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R8799:Arhgap40
|
UTSW |
2 |
158,354,758 (GRCm39) |
missense |
probably benign |
0.33 |
R8804:Arhgap40
|
UTSW |
2 |
158,389,626 (GRCm39) |
missense |
probably benign |
0.00 |
R9096:Arhgap40
|
UTSW |
2 |
158,389,584 (GRCm39) |
missense |
probably benign |
0.01 |
R9097:Arhgap40
|
UTSW |
2 |
158,389,584 (GRCm39) |
missense |
probably benign |
0.01 |
R9222:Arhgap40
|
UTSW |
2 |
158,388,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R9488:Arhgap40
|
UTSW |
2 |
158,391,571 (GRCm39) |
missense |
possibly damaging |
0.78 |
Z1176:Arhgap40
|
UTSW |
2 |
158,376,805 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-06-21 |