Incidental Mutation 'R9074:Srgap1'
ID |
689682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
068895-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R9074 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121628257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 882
(D882G)
|
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: D882G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: D882G
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 |
possibly damaging
Transcript: ENSMUST00000081688
AA Change: D905G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: D905G
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: 98.8%
|
Validation Efficiency |
98% (63/64) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,972,257 (GRCm39) |
|
silent |
Het |
Ackr2 |
T |
A |
9: 121,737,729 (GRCm39) |
C35S |
probably damaging |
Het |
Adcy8 |
T |
A |
15: 64,573,940 (GRCm39) |
K1054N |
probably damaging |
Het |
Adgrf1 |
A |
T |
17: 43,601,879 (GRCm39) |
|
probably benign |
Het |
Akap9 |
T |
A |
5: 4,127,959 (GRCm39) |
I3765K |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,824,610 (GRCm39) |
F1219I |
|
Het |
Btc |
A |
T |
5: 91,508,603 (GRCm39) |
|
probably null |
Het |
Cd163 |
C |
T |
6: 124,285,947 (GRCm39) |
R166* |
probably null |
Het |
Cfap52 |
G |
A |
11: 67,822,656 (GRCm39) |
S405L |
probably benign |
Het |
Clcn2 |
A |
G |
16: 20,531,414 (GRCm39) |
L210P |
possibly damaging |
Het |
Creb3l3 |
T |
A |
10: 80,924,452 (GRCm39) |
|
probably null |
Het |
Csn1s2a |
A |
T |
5: 87,934,458 (GRCm39) |
I144F |
probably benign |
Het |
Dedd |
G |
T |
1: 171,167,888 (GRCm39) |
|
probably benign |
Het |
Eef2k |
C |
T |
7: 120,491,124 (GRCm39) |
R537C |
probably damaging |
Het |
Epas1 |
A |
T |
17: 87,135,267 (GRCm39) |
R633S |
probably benign |
Het |
Fmn2 |
C |
A |
1: 174,436,198 (GRCm39) |
T723N |
unknown |
Het |
Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
Ggcx |
T |
G |
6: 72,402,924 (GRCm39) |
F294C |
probably damaging |
Het |
Ghr |
G |
A |
15: 3,370,470 (GRCm39) |
P132S |
possibly damaging |
Het |
Gm15446 |
A |
T |
5: 110,091,299 (GRCm39) |
H517L |
probably damaging |
Het |
Gm5862 |
T |
C |
5: 26,226,624 (GRCm39) |
T93A |
probably damaging |
Het |
Gnb1l |
T |
A |
16: 18,359,745 (GRCm39) |
I50N |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,532,797 (GRCm39) |
Y897C |
probably damaging |
Het |
Greb1l |
T |
C |
18: 10,558,795 (GRCm39) |
C1817R |
probably damaging |
Het |
Ier5 |
C |
A |
1: 154,974,275 (GRCm39) |
W301L |
probably damaging |
Het |
Irf2bp2 |
A |
G |
8: 127,318,456 (GRCm39) |
L370P |
probably benign |
Het |
Itga9 |
T |
A |
9: 118,636,344 (GRCm39) |
N677K |
probably damaging |
Het |
Itgb7 |
G |
T |
15: 102,132,797 (GRCm39) |
R172S |
|
Het |
Kdm6b |
A |
T |
11: 69,292,977 (GRCm39) |
C1266* |
probably null |
Het |
Kmt2c |
A |
T |
5: 25,489,343 (GRCm39) |
V4532E |
probably damaging |
Het |
Kprp |
A |
C |
3: 92,732,226 (GRCm39) |
F275V |
probably damaging |
Het |
Lrrc4 |
C |
A |
6: 28,831,595 (GRCm39) |
V7L |
probably damaging |
Het |
Map3k21 |
G |
A |
8: 126,664,050 (GRCm39) |
R537H |
probably damaging |
Het |
Mchr1 |
T |
G |
15: 81,119,980 (GRCm39) |
D2E |
probably benign |
Het |
Mixl1 |
T |
C |
1: 180,522,245 (GRCm39) |
D212G |
probably damaging |
Het |
Mup2 |
T |
C |
4: 60,139,717 (GRCm39) |
T24A |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,358,264 (GRCm39) |
K991E |
possibly damaging |
Het |
Ndufb11b |
T |
A |
15: 81,865,011 (GRCm39) |
M84K |
probably damaging |
Het |
Nfe2l1 |
G |
A |
11: 96,710,573 (GRCm39) |
A552V |
possibly damaging |
Het |
Or2p2 |
C |
T |
13: 21,256,784 (GRCm39) |
R229H |
possibly damaging |
Het |
Or51r1 |
T |
G |
7: 102,228,433 (GRCm39) |
S244A |
probably damaging |
Het |
Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,804,479 (GRCm39) |
S527P |
possibly damaging |
Het |
Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pgc |
T |
A |
17: 48,043,351 (GRCm39) |
V233E |
probably damaging |
Het |
Pias1 |
T |
C |
9: 62,888,164 (GRCm39) |
|
probably benign |
Het |
Pign |
A |
T |
1: 105,556,246 (GRCm39) |
W72R |
unknown |
Het |
Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
Proc |
A |
G |
18: 32,268,950 (GRCm39) |
S12P |
possibly damaging |
Het |
Rida |
T |
A |
15: 34,488,823 (GRCm39) |
Q23L |
probably damaging |
Het |
Slc22a8 |
A |
G |
19: 8,587,025 (GRCm39) |
E406G |
possibly damaging |
Het |
Slc2a7 |
A |
G |
4: 150,242,625 (GRCm39) |
T238A |
probably benign |
Het |
Spata31h1 |
T |
A |
10: 82,123,894 (GRCm39) |
S3039C |
possibly damaging |
Het |
Spp1 |
A |
G |
5: 104,588,167 (GRCm39) |
I190V |
probably benign |
Het |
Ssrp1 |
T |
A |
2: 84,875,811 (GRCm39) |
W557R |
probably damaging |
Het |
Strn |
C |
G |
17: 79,043,790 (GRCm39) |
A43P |
probably benign |
Het |
Taf6 |
A |
C |
5: 138,180,465 (GRCm39) |
Y300D |
probably damaging |
Het |
Tesk2 |
A |
G |
4: 116,658,933 (GRCm39) |
Y270C |
probably damaging |
Het |
Tnnt3 |
T |
A |
7: 142,065,823 (GRCm39) |
D153E |
probably benign |
Het |
Ubl7 |
A |
G |
9: 57,826,637 (GRCm39) |
H117R |
possibly damaging |
Het |
Vcan |
T |
A |
13: 89,839,146 (GRCm39) |
T2133S |
possibly damaging |
Het |
Vrk2 |
T |
A |
11: 26,543,917 (GRCm39) |
|
probably benign |
Het |
Wdr72 |
A |
C |
9: 74,125,902 (GRCm39) |
Q1011P |
possibly damaging |
Het |
Wls |
T |
A |
3: 159,615,403 (GRCm39) |
I306N |
possibly damaging |
Het |
Zfp654 |
A |
G |
16: 64,611,496 (GRCm39) |
S283P |
probably damaging |
Het |
Zfp956 |
C |
T |
6: 47,939,462 (GRCm39) |
T170I |
possibly damaging |
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 |
R7247:Srgap1
|
UTSW |
10 |
121,705,695 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
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'- AGCACTATACCTGAGCAATCG -3'
(R):5'- CATCCGGTGTCAAAAGCTCTTC -3'
Sequencing Primer
(F):5'- TATACCTGAGCAATCGTCTCGGG -3'
(R):5'- TCTTCTTGACCGTCTAGACAAAG -3'
|
Posted On |
2021-11-19 |