Incidental Mutation 'R0787:Arhgap40'
| ID |
76889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap40
|
| Ensembl Gene |
ENSMUSG00000074625 |
| Gene Name |
Rho GTPase activating protein 40 |
| Synonyms |
Gm14203 |
| MMRRC Submission |
038967-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.493)
|
| Stock # |
R0787 (G1)
|
| Quality Score |
193 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158512796-158550762 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 158547790 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 625
(S625P)
|
| 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: S628P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: S628P
| 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 benign
Transcript: ENSMUST00000165398
AA Change: S625P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: S625P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
140 |
N/A |
INTRINSIC |
|
RhoGAP
|
337 |
516 |
1.84e-47 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610037L13Rik |
T |
A |
4: 107,890,129 (GRCm38) |
L6Q |
probably damaging |
Het |
| 1700001F09Rik |
A |
T |
14: 43,345,493 (GRCm38) |
|
probably null |
Het |
| Abca8a |
T |
A |
11: 110,042,988 (GRCm38) |
Y1197F |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,798,516 (GRCm38) |
|
probably null |
Het |
| Adamts16 |
A |
T |
13: 70,738,829 (GRCm38) |
C979S |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 127,085,150 (GRCm38) |
D523E |
unknown |
Het |
| Ankfy1 |
T |
A |
11: 72,760,296 (GRCm38) |
I1024N |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,994,678 (GRCm38) |
S379G |
probably null |
Het |
| Armc12 |
G |
C |
17: 28,538,766 (GRCm38) |
A291P |
probably damaging |
Het |
| Armc9 |
A |
G |
1: 86,202,505 (GRCm38) |
N524D |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,638,485 (GRCm38) |
T2305K |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,047,635 (GRCm38) |
N277S |
probably benign |
Het |
| E130311K13Rik |
A |
T |
3: 63,920,298 (GRCm38) |
V129E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,722,668 (GRCm38) |
D79G |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,494,090 (GRCm38) |
E58G |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,420,909 (GRCm38) |
V222E |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,040,555 (GRCm38) |
Y3913N |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,423,901 (GRCm38) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,106,446 (GRCm38) |
D759V |
probably damaging |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,569,499 (GRCm38) |
|
probably benign |
Het |
| Isg15 |
C |
T |
4: 156,199,939 (GRCm38) |
R44H |
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,279,153 (GRCm38) |
T232I |
probably benign |
Het |
| Kntc1 |
C |
A |
5: 123,796,104 (GRCm38) |
H1399Q |
probably benign |
Het |
| Lig1 |
A |
C |
7: 13,299,069 (GRCm38) |
K499Q |
probably benign |
Het |
| Lrrn3 |
C |
A |
12: 41,454,231 (GRCm38) |
C29F |
probably damaging |
Het |
| Mtmr10 |
T |
C |
7: 64,300,615 (GRCm38) |
I136T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,426,096 (GRCm38) |
Y854H |
probably benign |
Het |
| Olfr770 |
T |
C |
10: 129,133,526 (GRCm38) |
N81D |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,886,757 (GRCm38) |
A659V |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,615,630 (GRCm38) |
|
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,334,549 (GRCm38) |
V83A |
probably damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,690,523 (GRCm38) |
M326K |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,717,638 (GRCm38) |
L287Q |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,076,177 (GRCm38) |
D235G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,529,264 (GRCm38) |
P1665Q |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,364,956 (GRCm38) |
T326A |
probably damaging |
Het |
| Prr22 |
A |
T |
17: 56,771,072 (GRCm38) |
Y75F |
possibly damaging |
Het |
| Ptov1 |
A |
C |
7: 44,865,470 (GRCm38) |
|
probably null |
Het |
| Rasal2 |
A |
G |
1: 157,158,696 (GRCm38) |
S766P |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,792,976 (GRCm38) |
T337A |
probably benign |
Het |
| St5 |
G |
T |
7: 109,525,620 (GRCm38) |
R1068S |
possibly damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,449,209 (GRCm38) |
I1168N |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,946,343 (GRCm38) |
V1126A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 50,829,230 (GRCm38) |
S2304T |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,789,561 (GRCm38) |
R1446M |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,370,484 (GRCm38) |
I425V |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,951,421 (GRCm38) |
|
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,381,763 (GRCm38) |
|
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,156,847 (GRCm38) |
S573P |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 101,957,388 (GRCm38) |
V191E |
probably damaging |
Het |
| Zdhhc3 |
A |
T |
9: 123,083,623 (GRCm38) |
C153* |
probably null |
Het |
| Zfp407 |
A |
T |
18: 84,209,022 (GRCm38) |
V2154D |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,209,346 (GRCm38) |
V2046A |
probably benign |
Het |
| Zfr |
T |
A |
15: 12,140,548 (GRCm38) |
I227N |
unknown |
Het |
|
| Other mutations in Arhgap40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Arhgap40
|
APN |
2 |
158,531,158 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL00547:Arhgap40
|
APN |
2 |
158,538,626 (GRCm38) |
splice site |
probably benign |
|
|
IGL00911:Arhgap40
|
APN |
2 |
158,534,716 (GRCm38) |
splice site |
probably benign |
|
|
IGL01084:Arhgap40
|
APN |
2 |
158,543,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02037:Arhgap40
|
APN |
2 |
158,534,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02111:Arhgap40
|
APN |
2 |
158,539,844 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02131:Arhgap40
|
APN |
2 |
158,531,939 (GRCm38) |
splice site |
probably null |
|
|
IGL02552:Arhgap40
|
APN |
2 |
158,546,801 (GRCm38) |
missense |
probably benign |
|
|
PIT4305001:Arhgap40
|
UTSW |
2 |
158,531,905 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0212:Arhgap40
|
UTSW |
2 |
158,550,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0508:Arhgap40
|
UTSW |
2 |
158,546,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1075:Arhgap40
|
UTSW |
2 |
158,549,647 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1201:Arhgap40
|
UTSW |
2 |
158,534,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1511:Arhgap40
|
UTSW |
2 |
158,527,161 (GRCm38) |
missense |
probably benign |
|
|
R1519:Arhgap40
|
UTSW |
2 |
158,546,801 (GRCm38) |
missense |
probably benign |
|
|
R1567:Arhgap40
|
UTSW |
2 |
158,546,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1662:Arhgap40
|
UTSW |
2 |
158,539,270 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4120:Arhgap40
|
UTSW |
2 |
158,532,330 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4592:Arhgap40
|
UTSW |
2 |
158,546,709 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4678:Arhgap40
|
UTSW |
2 |
158,532,306 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4818:Arhgap40
|
UTSW |
2 |
158,539,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4953:Arhgap40
|
UTSW |
2 |
158,543,406 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R5108:Arhgap40
|
UTSW |
2 |
158,547,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5578:Arhgap40
|
UTSW |
2 |
158,531,206 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6924:Arhgap40
|
UTSW |
2 |
158,527,146 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6931:Arhgap40
|
UTSW |
2 |
158,531,218 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7028:Arhgap40
|
UTSW |
2 |
158,531,374 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7253:Arhgap40
|
UTSW |
2 |
158,547,656 (GRCm38) |
missense |
probably benign |
|
|
R7385:Arhgap40
|
UTSW |
2 |
158,543,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7670:Arhgap40
|
UTSW |
2 |
158,531,925 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7813:Arhgap40
|
UTSW |
2 |
158,538,700 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7824:Arhgap40
|
UTSW |
2 |
158,534,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8179:Arhgap40
|
UTSW |
2 |
158,539,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8559:Arhgap40
|
UTSW |
2 |
158,541,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8799:Arhgap40
|
UTSW |
2 |
158,512,838 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8804:Arhgap40
|
UTSW |
2 |
158,547,706 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9096:Arhgap40
|
UTSW |
2 |
158,547,664 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9097:Arhgap40
|
UTSW |
2 |
158,547,664 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9222:Arhgap40
|
UTSW |
2 |
158,546,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9488:Arhgap40
|
UTSW |
2 |
158,549,651 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
Z1176:Arhgap40
|
UTSW |
2 |
158,534,885 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAGTGGCAAAGATCCAGGTCC -3'
(R):5'- CATGCACCGTCTGATCTACAGTAGC -3'
Sequencing Primer
(F):5'- CAAAGATCCAGGTCCAGGCG -3'
(R):5'- ttaaaatCAGTAATGAATGGTGGCCC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation