Incidental Mutation 'R7247:Srgap1'
ID |
563623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
045310-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R7247 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121705695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 243
(Y243F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
|
AlphaFold |
Q91Z69 |
PDB Structure |
Crystal structure of srGAP1 SH3 domain in the slit-robo signaling pathway [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020322
AA Change: Y243F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: Y243F
Domain | Start | End | E-Value | Type |
FCH
|
22 |
121 |
3.81e-16 |
SMART |
low complexity region
|
173 |
193 |
N/A |
INTRINSIC |
coiled coil region
|
352 |
382 |
N/A |
INTRINSIC |
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
RhoGAP
|
494 |
668 |
1.27e-64 |
SMART |
SH3
|
723 |
778 |
1.57e-14 |
SMART |
low complexity region
|
826 |
840 |
N/A |
INTRINSIC |
low complexity region
|
1004 |
1014 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081688
AA Change: Y243F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: Y243F
Domain | Start | End | E-Value | Type |
FCH
|
22 |
121 |
3.81e-16 |
SMART |
low complexity region
|
173 |
193 |
N/A |
INTRINSIC |
coiled coil region
|
352 |
382 |
N/A |
INTRINSIC |
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
RhoGAP
|
517 |
691 |
1.27e-64 |
SMART |
SH3
|
746 |
801 |
1.57e-14 |
SMART |
low complexity region
|
849 |
863 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1037 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,240,732 (GRCm39) |
E865G |
probably benign |
Het |
Actrt2 |
A |
C |
4: 154,751,880 (GRCm39) |
D85E |
probably benign |
Het |
Ankrd55 |
A |
G |
13: 112,472,787 (GRCm39) |
E153G |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,501,139 (GRCm39) |
H1037L |
probably benign |
Het |
Camk2a |
A |
G |
18: 61,076,277 (GRCm39) |
Y85C |
unknown |
Het |
Caprin1 |
A |
T |
2: 103,609,819 (GRCm39) |
V153E |
possibly damaging |
Het |
Caskin2 |
G |
A |
11: 115,692,722 (GRCm39) |
P688S |
probably benign |
Het |
Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
Ccdc116 |
T |
C |
16: 16,957,555 (GRCm39) |
T535A |
possibly damaging |
Het |
Cdh9 |
G |
A |
15: 16,778,341 (GRCm39) |
R52H |
probably damaging |
Het |
Cdk5rap2 |
A |
G |
4: 70,255,666 (GRCm39) |
L406S |
probably damaging |
Het |
Cep350 |
A |
G |
1: 155,786,499 (GRCm39) |
M1449T |
probably damaging |
Het |
Chst8 |
T |
A |
7: 34,375,361 (GRCm39) |
K159N |
probably damaging |
Het |
Dcdc2a |
A |
G |
13: 25,286,374 (GRCm39) |
H136R |
probably benign |
Het |
Dip2a |
C |
T |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
Dock2 |
G |
A |
11: 34,605,340 (GRCm39) |
R260* |
probably null |
Het |
Dscam |
A |
G |
16: 96,622,008 (GRCm39) |
V481A |
probably damaging |
Het |
E130308A19Rik |
A |
G |
4: 59,690,502 (GRCm39) |
D112G |
probably damaging |
Het |
Ezh2 |
T |
C |
6: 47,510,708 (GRCm39) |
K634E |
probably damaging |
Het |
Fcgr2b |
A |
G |
1: 170,793,269 (GRCm39) |
|
probably null |
Het |
Fgfrl1 |
T |
C |
5: 108,851,365 (GRCm39) |
V94A |
possibly damaging |
Het |
Gpr156 |
C |
A |
16: 37,768,103 (GRCm39) |
N6K |
probably damaging |
Het |
Gsdmc2 |
A |
T |
15: 63,705,183 (GRCm39) |
F177I |
probably benign |
Het |
Igkv4-54 |
T |
A |
6: 69,608,842 (GRCm39) |
S26C |
probably damaging |
Het |
Iglc3 |
T |
C |
16: 18,884,191 (GRCm39) |
H80R |
|
Het |
Immp1l |
G |
A |
2: 105,767,401 (GRCm39) |
G87S |
probably damaging |
Het |
Itgav |
A |
T |
2: 83,555,179 (GRCm39) |
D34V |
probably damaging |
Het |
Lrp1b |
G |
A |
2: 41,159,224 (GRCm39) |
T1686I |
|
Het |
Ltn1 |
T |
C |
16: 87,206,275 (GRCm39) |
D935G |
probably benign |
Het |
Map3k8 |
T |
C |
18: 4,334,036 (GRCm39) |
D352G |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,772,604 (GRCm39) |
K610E |
possibly damaging |
Het |
Marchf4 |
G |
T |
1: 72,491,637 (GRCm39) |
Y211* |
probably null |
Het |
Marf1 |
A |
T |
16: 13,944,957 (GRCm39) |
L1304Q |
probably damaging |
Het |
Matcap1 |
A |
T |
8: 106,011,331 (GRCm39) |
Y268N |
probably benign |
Het |
Mecom |
A |
G |
3: 30,194,505 (GRCm39) |
V5A |
unknown |
Het |
Mep1a |
A |
T |
17: 43,785,995 (GRCm39) |
V711D |
possibly damaging |
Het |
Naca |
T |
A |
10: 127,878,467 (GRCm39) |
D1166E |
unknown |
Het |
Neb |
G |
T |
2: 52,148,753 (GRCm39) |
P2598Q |
probably damaging |
Het |
Notch4 |
A |
T |
17: 34,791,491 (GRCm39) |
E546V |
probably damaging |
Het |
Nudt18 |
A |
G |
14: 70,815,422 (GRCm39) |
T12A |
unknown |
Het |
Nvl |
A |
C |
1: 180,939,851 (GRCm39) |
|
probably null |
Het |
Obscn |
G |
T |
11: 58,994,144 (GRCm39) |
C1579* |
probably null |
Het |
Or4b13 |
G |
A |
2: 90,083,165 (GRCm39) |
P56S |
probably damaging |
Het |
Or51e2 |
T |
C |
7: 102,391,551 (GRCm39) |
I220V |
probably damaging |
Het |
Or6c5b |
T |
C |
10: 129,246,051 (GRCm39) |
V272A |
probably damaging |
Het |
Or7g33 |
A |
T |
9: 19,448,629 (GRCm39) |
I199K |
probably benign |
Het |
Or8g19 |
T |
A |
9: 39,056,153 (GRCm39) |
Y252* |
probably null |
Het |
Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
Paqr9 |
A |
G |
9: 95,442,246 (GRCm39) |
T79A |
possibly damaging |
Het |
Plec |
A |
T |
15: 76,061,543 (GRCm39) |
V2798E |
probably damaging |
Het |
Potefam3f |
A |
G |
8: 20,479,022 (GRCm39) |
N10S |
|
Het |
Ptpn4 |
A |
T |
1: 119,617,764 (GRCm39) |
*557R |
probably null |
Het |
Ptprt |
T |
C |
2: 161,375,443 (GRCm39) |
E1379G |
probably benign |
Het |
Rad18 |
G |
T |
6: 112,642,286 (GRCm39) |
T327K |
possibly damaging |
Het |
Rps2 |
T |
A |
17: 24,939,554 (GRCm39) |
I75N |
possibly damaging |
Het |
Scgb2b2 |
A |
T |
7: 31,003,021 (GRCm39) |
R39W |
probably damaging |
Het |
Sh3d21 |
A |
G |
4: 126,045,908 (GRCm39) |
F307S |
probably benign |
Het |
Snap91 |
A |
G |
9: 86,674,669 (GRCm39) |
V507A |
unknown |
Het |
Stim1 |
T |
A |
7: 102,070,739 (GRCm39) |
|
probably null |
Het |
Top2b |
T |
C |
14: 16,416,962 (GRCm38) |
V1161A |
probably benign |
Het |
Tpcn1 |
T |
C |
5: 120,723,315 (GRCm39) |
D16G |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,196,580 (GRCm39) |
I1535F |
probably damaging |
Het |
Txnrd2 |
T |
C |
16: 18,274,822 (GRCm39) |
F278L |
probably damaging |
Het |
Ufl1 |
A |
T |
4: 25,254,637 (GRCm39) |
D579E |
probably damaging |
Het |
Vps45 |
T |
C |
3: 95,948,717 (GRCm39) |
N346S |
probably benign |
Het |
Vps51 |
T |
A |
19: 6,127,419 (GRCm39) |
|
probably benign |
Het |
Zfp536 |
T |
C |
7: 37,268,631 (GRCm39) |
N262D |
probably benign |
Het |
Zmynd10 |
A |
G |
9: 107,425,976 (GRCm39) |
I103M |
possibly damaging |
Het |
Zswim1 |
C |
T |
2: 164,667,719 (GRCm39) |
H324Y |
possibly damaging |
Het |
Zxdc |
T |
C |
6: 90,361,155 (GRCm39) |
W507R |
unknown |
Het |
|
Other mutations in Srgap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01964:Srgap1
|
APN |
10 |
121,640,871 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02106:Srgap1
|
APN |
10 |
121,621,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02927:Srgap1
|
APN |
10 |
121,691,367 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03088:Srgap1
|
APN |
10 |
121,661,598 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03208:Srgap1
|
APN |
10 |
121,628,171 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03251:Srgap1
|
APN |
10 |
121,640,826 (GRCm39) |
splice site |
probably null |
|
PIT1430001:Srgap1
|
UTSW |
10 |
121,732,658 (GRCm39) |
splice site |
probably benign |
|
R0052:Srgap1
|
UTSW |
10 |
121,636,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0052:Srgap1
|
UTSW |
10 |
121,636,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0356:Srgap1
|
UTSW |
10 |
121,691,441 (GRCm39) |
splice site |
probably null |
|
R0361:Srgap1
|
UTSW |
10 |
121,883,097 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
R0365:Srgap1
|
UTSW |
10 |
121,621,610 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0675:Srgap1
|
UTSW |
10 |
121,628,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R0801:Srgap1
|
UTSW |
10 |
121,643,780 (GRCm39) |
missense |
probably damaging |
0.96 |
R0815:Srgap1
|
UTSW |
10 |
121,621,379 (GRCm39) |
missense |
probably damaging |
0.99 |
R1034:Srgap1
|
UTSW |
10 |
121,621,350 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1160:Srgap1
|
UTSW |
10 |
121,691,382 (GRCm39) |
missense |
probably benign |
0.01 |
R1454:Srgap1
|
UTSW |
10 |
121,732,643 (GRCm39) |
missense |
probably damaging |
0.99 |
R1624:Srgap1
|
UTSW |
10 |
121,691,278 (GRCm39) |
missense |
probably benign |
0.03 |
R1628:Srgap1
|
UTSW |
10 |
121,706,244 (GRCm39) |
missense |
probably benign |
0.15 |
R1816:Srgap1
|
UTSW |
10 |
121,761,876 (GRCm39) |
nonsense |
probably null |
|
R1933:Srgap1
|
UTSW |
10 |
121,761,808 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2034:Srgap1
|
UTSW |
10 |
121,628,651 (GRCm39) |
missense |
probably damaging |
0.98 |
R2211:Srgap1
|
UTSW |
10 |
121,689,645 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2295:Srgap1
|
UTSW |
10 |
121,630,665 (GRCm39) |
missense |
probably benign |
0.03 |
R2368:Srgap1
|
UTSW |
10 |
121,665,194 (GRCm39) |
missense |
probably benign |
0.05 |
R3796:Srgap1
|
UTSW |
10 |
121,883,037 (GRCm39) |
missense |
probably benign |
0.06 |
R4083:Srgap1
|
UTSW |
10 |
121,621,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R4172:Srgap1
|
UTSW |
10 |
121,691,268 (GRCm39) |
missense |
probably benign |
0.00 |
R4322:Srgap1
|
UTSW |
10 |
121,705,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R4401:Srgap1
|
UTSW |
10 |
121,640,826 (GRCm39) |
splice site |
probably null |
|
R4513:Srgap1
|
UTSW |
10 |
121,706,231 (GRCm39) |
critical splice donor site |
probably null |
|
R4698:Srgap1
|
UTSW |
10 |
121,628,392 (GRCm39) |
missense |
probably benign |
0.22 |
R4776:Srgap1
|
UTSW |
10 |
121,628,256 (GRCm39) |
missense |
probably benign |
0.03 |
R4951:Srgap1
|
UTSW |
10 |
121,621,457 (GRCm39) |
missense |
probably benign |
0.20 |
R5116:Srgap1
|
UTSW |
10 |
121,628,284 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5232:Srgap1
|
UTSW |
10 |
121,676,816 (GRCm39) |
missense |
probably benign |
0.00 |
R5237:Srgap1
|
UTSW |
10 |
121,643,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5335:Srgap1
|
UTSW |
10 |
121,621,282 (GRCm39) |
utr 3 prime |
probably benign |
|
R5402:Srgap1
|
UTSW |
10 |
121,621,665 (GRCm39) |
missense |
probably benign |
0.06 |
R5432:Srgap1
|
UTSW |
10 |
121,705,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R5456:Srgap1
|
UTSW |
10 |
121,705,716 (GRCm39) |
missense |
probably benign |
0.45 |
R5669:Srgap1
|
UTSW |
10 |
121,640,755 (GRCm39) |
missense |
probably benign |
0.00 |
R5682:Srgap1
|
UTSW |
10 |
121,640,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5687:Srgap1
|
UTSW |
10 |
121,661,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R5773:Srgap1
|
UTSW |
10 |
121,732,614 (GRCm39) |
missense |
probably benign |
0.02 |
R5832:Srgap1
|
UTSW |
10 |
121,676,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Srgap1
|
UTSW |
10 |
121,664,635 (GRCm39) |
missense |
probably null |
|
R6240:Srgap1
|
UTSW |
10 |
121,883,061 (GRCm39) |
missense |
probably benign |
0.06 |
R6336:Srgap1
|
UTSW |
10 |
121,761,846 (GRCm39) |
missense |
probably benign |
0.01 |
R6435:Srgap1
|
UTSW |
10 |
121,636,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6597:Srgap1
|
UTSW |
10 |
121,628,276 (GRCm39) |
missense |
probably benign |
0.11 |
R6798:Srgap1
|
UTSW |
10 |
121,761,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R6807:Srgap1
|
UTSW |
10 |
121,664,631 (GRCm39) |
splice site |
probably null |
|
R6897:Srgap1
|
UTSW |
10 |
121,621,523 (GRCm39) |
missense |
probably damaging |
0.96 |
R7057:Srgap1
|
UTSW |
10 |
121,640,858 (GRCm39) |
missense |
probably benign |
0.20 |
R7196:Srgap1
|
UTSW |
10 |
121,676,753 (GRCm39) |
missense |
probably benign |
0.00 |
R7404:Srgap1
|
UTSW |
10 |
121,621,650 (GRCm39) |
missense |
probably benign |
0.18 |
R7467:Srgap1
|
UTSW |
10 |
121,691,344 (GRCm39) |
nonsense |
probably null |
|
R7792:Srgap1
|
UTSW |
10 |
121,761,872 (GRCm39) |
missense |
probably damaging |
0.98 |
R7846:Srgap1
|
UTSW |
10 |
121,621,397 (GRCm39) |
missense |
probably damaging |
0.97 |
R7896:Srgap1
|
UTSW |
10 |
121,689,458 (GRCm39) |
critical splice donor site |
probably benign |
|
R7912:Srgap1
|
UTSW |
10 |
121,689,458 (GRCm39) |
critical splice donor site |
probably benign |
|
R8127:Srgap1
|
UTSW |
10 |
121,691,271 (GRCm39) |
missense |
probably null |
0.04 |
R8233:Srgap1
|
UTSW |
10 |
121,661,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R8248:Srgap1
|
UTSW |
10 |
121,640,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R8362:Srgap1
|
UTSW |
10 |
121,691,383 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8885:Srgap1
|
UTSW |
10 |
121,761,545 (GRCm39) |
intron |
probably benign |
|
R9074:Srgap1
|
UTSW |
10 |
121,628,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R9134:Srgap1
|
UTSW |
10 |
121,883,127 (GRCm39) |
start gained |
probably benign |
|
R9338:Srgap1
|
UTSW |
10 |
121,689,458 (GRCm39) |
critical splice donor site |
probably benign |
|
R9437:Srgap1
|
UTSW |
10 |
121,636,777 (GRCm39) |
missense |
probably benign |
0.18 |
R9629:Srgap1
|
UTSW |
10 |
121,705,746 (GRCm39) |
missense |
probably benign |
0.06 |
R9747:Srgap1
|
UTSW |
10 |
121,761,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R9747:Srgap1
|
UTSW |
10 |
121,628,579 (GRCm39) |
missense |
probably benign |
|
X0063:Srgap1
|
UTSW |
10 |
121,621,317 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTTTATCAGCTTTAGGACCAAG -3'
(R):5'- TCCACCAAGGACCTAAAGGG -3'
Sequencing Primer
(F):5'- AGGACCAAGCTTTTTCACATGC -3'
(R):5'- GATGACTTTGCTGTCTCTC -3'
|
Posted On |
2019-06-26 |