Incidental Mutation 'R0361:Srgap1'
ID |
30119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
038567-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R0361 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 121883097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
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 null
Transcript: ENSMUST00000020322
AA Change: M1K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: M1K
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 null
Transcript: ENSMUST00000081688
AA Change: M1K
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: M1K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162710
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
100% (1/1) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
G |
3: 124,207,283 (GRCm39) |
T303P |
possibly damaging |
Het |
1700010I14Rik |
G |
T |
17: 9,211,378 (GRCm39) |
V176L |
probably benign |
Het |
1700034J05Rik |
T |
C |
6: 146,853,869 (GRCm39) |
T262A |
possibly damaging |
Het |
Adgrl3 |
A |
T |
5: 81,908,544 (GRCm39) |
I1165F |
probably damaging |
Het |
Ankhd1 |
T |
C |
18: 36,780,267 (GRCm39) |
I1773T |
probably damaging |
Het |
Api5 |
A |
T |
2: 94,253,842 (GRCm39) |
L287* |
probably null |
Het |
Apol10b |
A |
T |
15: 77,469,586 (GRCm39) |
M197K |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,424 (GRCm39) |
R63W |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,608,396 (GRCm39) |
M731T |
probably damaging |
Het |
Cav1 |
C |
A |
6: 17,339,352 (GRCm39) |
R146S |
possibly damaging |
Het |
Cdhr2 |
A |
T |
13: 54,881,820 (GRCm39) |
I1118F |
probably damaging |
Het |
Cdk7 |
A |
T |
13: 100,848,062 (GRCm39) |
Y153* |
probably null |
Het |
Cemip |
A |
G |
7: 83,613,218 (GRCm39) |
I660T |
probably benign |
Het |
Cfap65 |
A |
T |
1: 74,964,599 (GRCm39) |
L518Q |
probably damaging |
Het |
Cgas |
T |
A |
9: 78,340,534 (GRCm39) |
K399N |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,366,467 (GRCm39) |
H176R |
probably benign |
Het |
Cstdc4 |
T |
C |
16: 36,004,648 (GRCm39) |
S7P |
probably damaging |
Het |
Cux1 |
T |
A |
5: 136,308,351 (GRCm39) |
I1263F |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,044,258 (GRCm39) |
M1867T |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,388,327 (GRCm39) |
L202P |
probably damaging |
Het |
Dyrk3 |
A |
G |
1: 131,057,769 (GRCm39) |
S100P |
probably benign |
Het |
Efr3b |
A |
T |
12: 4,027,923 (GRCm39) |
S376T |
probably benign |
Het |
Eps8l2 |
A |
C |
7: 140,936,112 (GRCm39) |
N222T |
probably benign |
Het |
Ermp1 |
A |
T |
19: 29,608,806 (GRCm39) |
Y158N |
probably damaging |
Het |
Fam13a |
A |
G |
6: 58,964,159 (GRCm39) |
V91A |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,909,699 (GRCm39) |
V2101A |
possibly damaging |
Het |
Fsip2 |
T |
C |
2: 82,805,849 (GRCm39) |
S723P |
possibly damaging |
Het |
Garem1 |
G |
T |
18: 21,432,801 (GRCm39) |
C9* |
probably null |
Het |
Gdpd5 |
A |
G |
7: 99,107,997 (GRCm39) |
I530V |
possibly damaging |
Het |
Gm15217 |
T |
A |
14: 46,617,841 (GRCm39) |
|
probably benign |
Het |
Gm4922 |
T |
C |
10: 18,659,289 (GRCm39) |
T478A |
probably benign |
Het |
H2-M5 |
A |
G |
17: 37,298,328 (GRCm39) |
I329T |
possibly damaging |
Het |
Ing4 |
G |
A |
6: 125,024,857 (GRCm39) |
C200Y |
probably damaging |
Het |
Kcnip1 |
A |
T |
11: 33,793,177 (GRCm39) |
M5K |
probably benign |
Het |
Kdsr |
T |
C |
1: 106,675,517 (GRCm39) |
E102G |
probably damaging |
Het |
Krt15 |
C |
T |
11: 100,024,007 (GRCm39) |
V346M |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrrc55 |
A |
T |
2: 85,026,589 (GRCm39) |
M145K |
probably damaging |
Het |
Lrrtm2 |
A |
G |
18: 35,345,985 (GRCm39) |
I439T |
probably benign |
Het |
Map2k6 |
T |
C |
11: 110,390,335 (GRCm39) |
F290L |
probably damaging |
Het |
Me1 |
T |
A |
9: 86,533,055 (GRCm39) |
I136F |
probably damaging |
Het |
Mfap2 |
A |
G |
4: 140,742,294 (GRCm39) |
D98G |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mst1 |
T |
C |
9: 107,962,096 (GRCm39) |
F696L |
probably damaging |
Het |
Mta1 |
A |
G |
12: 113,096,961 (GRCm39) |
|
probably null |
Het |
Myh15 |
A |
T |
16: 48,934,368 (GRCm39) |
N645I |
probably benign |
Het |
Myo7b |
T |
A |
18: 32,147,262 (GRCm39) |
I94F |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,890,799 (GRCm39) |
S607T |
probably benign |
Het |
Noa1 |
G |
A |
5: 77,445,020 (GRCm39) |
Q600* |
probably null |
Het |
Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
Oas2 |
A |
T |
5: 120,876,466 (GRCm39) |
F492L |
probably damaging |
Het |
Olfm3 |
T |
A |
3: 114,914,622 (GRCm39) |
D211E |
probably damaging |
Het |
Or2y17 |
A |
T |
11: 49,231,641 (GRCm39) |
Y94F |
probably benign |
Het |
Osmr |
A |
G |
15: 6,871,432 (GRCm39) |
|
probably null |
Het |
Plagl2 |
A |
T |
2: 153,073,523 (GRCm39) |
D459E |
probably benign |
Het |
Plch2 |
T |
C |
4: 155,091,168 (GRCm39) |
D148G |
possibly damaging |
Het |
Plxnc1 |
C |
A |
10: 94,700,869 (GRCm39) |
C605F |
probably damaging |
Het |
Ppm1m |
T |
C |
9: 106,075,325 (GRCm39) |
E108G |
probably damaging |
Het |
Prr14l |
A |
C |
5: 32,950,985 (GRCm39) |
L1936R |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,723,354 (GRCm39) |
I1771T |
possibly damaging |
Het |
Rhobtb2 |
T |
C |
14: 70,033,357 (GRCm39) |
T538A |
probably benign |
Het |
Rictor |
A |
G |
15: 6,813,588 (GRCm39) |
N1025D |
possibly damaging |
Het |
Sec23a |
T |
G |
12: 59,037,804 (GRCm39) |
D324A |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,965,384 (GRCm39) |
F801I |
probably benign |
Het |
Synrg |
T |
A |
11: 83,915,163 (GRCm39) |
|
probably null |
Het |
Tas2r140 |
T |
G |
6: 40,468,232 (GRCm39) |
F21V |
probably benign |
Het |
Tmem260 |
A |
T |
14: 48,689,504 (GRCm39) |
T108S |
possibly damaging |
Het |
Trim2 |
T |
C |
3: 84,098,083 (GRCm39) |
Y406C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,673,746 (GRCm39) |
|
probably benign |
Het |
Vmn1r53 |
A |
T |
6: 90,201,064 (GRCm39) |
S87T |
possibly damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,564,196 (GRCm39) |
Y123N |
probably benign |
Het |
Vmn2r28 |
T |
A |
7: 5,496,715 (GRCm39) |
I46F |
probably benign |
Het |
Zan |
T |
C |
5: 137,395,028 (GRCm39) |
T4381A |
unknown |
Het |
Zfp457 |
A |
G |
13: 67,440,710 (GRCm39) |
F622L |
probably damaging |
Het |
Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
probably benign |
Het |
Zfy1 |
T |
C |
Y: 726,121 (GRCm39) |
H548R |
possibly damaging |
Het |
Zmym4 |
A |
T |
4: 126,804,938 (GRCm39) |
S441T |
probably benign |
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 |
|
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 |
|
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'- CACCAAGTTAGACGCGGAACTCCAG -3'
(R):5'- TCAACAATGGTGCGCGACGCTC -3'
Sequencing Primer
(F):5'- GCGGAACTCCAGTAGCAC -3'
(R):5'- CTCctctccctcctcctctc -3'
|
Posted On |
2013-04-24 |