Incidental Mutation 'IGL00502:Arhgap40'
ID |
6982 |
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 # |
IGL00502
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
158354716-158392682 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 158373078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 112
(D112G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099133]
[ENSMUST00000165398]
|
AlphaFold |
E9Q6X9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099133
AA Change: D115G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000096736 Gene: ENSMUSG00000074625 AA Change: D115G
Domain | Start | End | E-Value | Type |
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
RhoGAP
|
340 |
519 |
1.84e-47 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165398
AA Change: D112G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000130349 Gene: ENSMUSG00000074625 AA Change: D112G
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
A |
T |
15: 94,301,278 (GRCm39) |
I82N |
probably damaging |
Het |
Ampd2 |
A |
T |
3: 107,984,712 (GRCm39) |
L422H |
probably damaging |
Het |
Angptl2 |
T |
A |
2: 33,118,406 (GRCm39) |
V60E |
probably damaging |
Het |
Ano3 |
G |
A |
2: 110,601,395 (GRCm39) |
|
probably benign |
Het |
Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
Btrc |
A |
T |
19: 45,515,704 (GRCm39) |
E553V |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,541,212 (GRCm39) |
Y1323* |
probably null |
Het |
Ccdc146 |
A |
G |
5: 21,506,420 (GRCm39) |
C674R |
possibly damaging |
Het |
Ccdc170 |
A |
G |
10: 4,496,836 (GRCm39) |
D458G |
probably damaging |
Het |
Cfap57 |
T |
A |
4: 118,438,198 (GRCm39) |
M898L |
probably benign |
Het |
Crybg1 |
C |
T |
10: 43,834,309 (GRCm39) |
V1961I |
probably damaging |
Het |
Dsp |
T |
C |
13: 38,381,822 (GRCm39) |
S2257P |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,717,999 (GRCm39) |
V12A |
probably benign |
Het |
Foxk2 |
A |
G |
11: 121,187,925 (GRCm39) |
|
probably benign |
Het |
Galnt2l |
T |
C |
8: 125,054,837 (GRCm39) |
M204T |
probably damaging |
Het |
Gfi1b |
G |
A |
2: 28,504,797 (GRCm39) |
Q70* |
probably null |
Het |
Gsdmc |
T |
C |
15: 63,676,270 (GRCm39) |
T58A |
probably benign |
Het |
Hikeshi |
G |
A |
7: 89,572,818 (GRCm39) |
T26I |
probably benign |
Het |
Mpdz |
T |
C |
4: 81,287,960 (GRCm39) |
D433G |
probably damaging |
Het |
Ndufb5 |
T |
A |
3: 32,799,048 (GRCm39) |
V55D |
probably damaging |
Het |
Nostrin |
T |
C |
2: 69,014,336 (GRCm39) |
S431P |
probably benign |
Het |
Pdcd1lg2 |
A |
T |
19: 29,423,462 (GRCm39) |
T169S |
possibly damaging |
Het |
Plekha7 |
A |
T |
7: 115,734,419 (GRCm39) |
M1006K |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 83,098,097 (GRCm39) |
I94F |
probably benign |
Het |
Rims2 |
A |
T |
15: 39,370,380 (GRCm39) |
D938V |
probably damaging |
Het |
Slc4a8 |
A |
G |
15: 100,705,319 (GRCm39) |
T842A |
possibly damaging |
Het |
Spata21 |
C |
A |
4: 140,838,675 (GRCm39) |
|
probably null |
Het |
Stk32a |
C |
T |
18: 43,443,510 (GRCm39) |
T229I |
possibly damaging |
Het |
Tent4b |
C |
T |
8: 88,978,886 (GRCm39) |
Q63* |
probably null |
Het |
Trim33 |
C |
T |
3: 103,237,498 (GRCm39) |
P185S |
probably benign |
Het |
Tspoap1 |
A |
G |
11: 87,668,647 (GRCm39) |
|
probably null |
Het |
Vcan |
A |
G |
13: 89,840,438 (GRCm39) |
V742A |
probably benign |
Het |
Vrtn |
A |
T |
12: 84,695,837 (GRCm39) |
I196F |
probably benign |
Het |
Wasf1 |
A |
T |
10: 40,796,293 (GRCm39) |
I8F |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,980,879 (GRCm39) |
I491M |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,809,775 (GRCm39) |
T1095A |
possibly damaging |
Het |
|
Other mutations in Arhgap40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00547:Arhgap40
|
APN |
2 |
158,380,546 (GRCm39) |
splice site |
probably benign |
|
IGL00911:Arhgap40
|
APN |
2 |
158,376,636 (GRCm39) |
splice site |
probably benign |
|
IGL01084:Arhgap40
|
APN |
2 |
158,385,138 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-04-20 |