Incidental Mutation 'R7896:Srgap1'
ID |
609693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
045948-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R7896 (G1)
|
Quality Score |
214.458 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site |
DNA Base Change (assembly) |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC to CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC
at 121689458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000020322
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121
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 benign
Transcript: ENSMUST00000081688
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (82/83) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,840,792 (GRCm39) |
T894A |
probably damaging |
Het |
Abcc10 |
T |
A |
17: 46,635,235 (GRCm39) |
H256L |
probably benign |
Het |
Abcc6 |
A |
G |
7: 45,626,803 (GRCm39) |
L1418P |
probably damaging |
Het |
Actn2 |
G |
A |
13: 12,309,203 (GRCm39) |
A290V |
possibly damaging |
Het |
Actrt2 |
A |
T |
4: 154,751,652 (GRCm39) |
D161E |
probably benign |
Het |
Adam19 |
T |
A |
11: 46,028,370 (GRCm39) |
C668S |
probably damaging |
Het |
Alg8 |
T |
C |
7: 97,040,123 (GRCm39) |
L435S |
probably damaging |
Het |
Amz2 |
G |
A |
11: 109,327,413 (GRCm39) |
E322K |
possibly damaging |
Het |
Ankrd12 |
T |
A |
17: 66,292,680 (GRCm39) |
R918* |
probably null |
Het |
Atp5pb |
A |
G |
3: 105,863,259 (GRCm39) |
I59T |
probably damaging |
Het |
Bach1 |
T |
A |
16: 87,515,893 (GRCm39) |
C145S |
possibly damaging |
Het |
Bcl6b |
G |
T |
11: 70,117,848 (GRCm39) |
S309* |
probably null |
Het |
Birc6 |
G |
T |
17: 74,929,077 (GRCm39) |
R2323L |
probably damaging |
Het |
Catspere2 |
A |
T |
1: 177,938,740 (GRCm39) |
M538L |
probably benign |
Het |
Ccdc154 |
A |
T |
17: 25,390,800 (GRCm39) |
M647L |
probably benign |
Het |
Cdc14a |
T |
C |
3: 116,088,482 (GRCm39) |
T447A |
probably benign |
Het |
Chst9 |
C |
T |
18: 15,585,846 (GRCm39) |
R239H |
probably damaging |
Het |
Cs |
C |
T |
10: 128,189,004 (GRCm39) |
A171V |
probably damaging |
Het |
D3Ertd751e |
T |
A |
3: 41,710,508 (GRCm39) |
F107I |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,088,385 (GRCm39) |
D197G |
probably benign |
Het |
Dcdc2c |
G |
A |
12: 28,520,619 (GRCm39) |
Q486* |
probably null |
Het |
Dolk |
A |
T |
2: 30,175,961 (GRCm39) |
V28E |
possibly damaging |
Het |
Dpf2 |
C |
T |
19: 5,954,333 (GRCm39) |
S191N |
probably benign |
Het |
Eml3 |
T |
A |
19: 8,911,171 (GRCm39) |
F267I |
possibly damaging |
Het |
Entrep2 |
T |
C |
7: 64,426,557 (GRCm39) |
H232R |
probably damaging |
Het |
Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
Foxo3 |
T |
C |
10: 42,073,732 (GRCm39) |
S262G |
possibly damaging |
Het |
Gm1527 |
T |
G |
3: 28,975,742 (GRCm39) |
|
probably null |
Het |
Gm49380 |
G |
A |
9: 44,024,096 (GRCm39) |
L51F |
probably damaging |
Het |
Gm9195 |
A |
T |
14: 72,693,178 (GRCm39) |
H1582Q |
unknown |
Het |
Grip1 |
A |
G |
10: 119,814,450 (GRCm39) |
Q327R |
possibly damaging |
Het |
Gstt1 |
A |
G |
10: 75,619,976 (GRCm39) |
F207S |
probably damaging |
Het |
Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
Kif16b |
A |
G |
2: 142,675,995 (GRCm39) |
|
probably null |
Het |
Kif5a |
A |
G |
10: 127,077,873 (GRCm39) |
V407A |
probably benign |
Het |
Lrrc57 |
C |
A |
2: 120,438,372 (GRCm39) |
D134Y |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,135,657 (GRCm39) |
T2158A |
probably benign |
Het |
Mink1 |
A |
G |
11: 70,503,108 (GRCm39) |
N1068S |
possibly damaging |
Het |
Mmp8 |
A |
T |
9: 7,564,978 (GRCm39) |
I295F |
probably damaging |
Het |
Muc21 |
G |
A |
17: 35,930,917 (GRCm39) |
P1090S |
unknown |
Het |
Mup18 |
G |
T |
4: 61,590,925 (GRCm39) |
|
probably null |
Het |
Myo1h |
G |
T |
5: 114,474,372 (GRCm39) |
|
probably null |
Het |
Nap1l5 |
C |
T |
6: 58,883,505 (GRCm39) |
G52S |
probably damaging |
Het |
Npr3 |
A |
G |
15: 11,883,448 (GRCm39) |
F327S |
probably damaging |
Het |
Nrxn2 |
C |
A |
19: 6,582,083 (GRCm39) |
Q1673K |
possibly damaging |
Het |
Or13a20 |
G |
T |
7: 140,232,814 (GRCm39) |
L307F |
probably benign |
Het |
Or2r3 |
T |
A |
6: 42,449,100 (GRCm39) |
D4V |
probably benign |
Het |
Paf1 |
T |
C |
7: 28,096,072 (GRCm39) |
Y260H |
probably damaging |
Het |
Pcmtd2 |
T |
C |
2: 181,496,776 (GRCm39) |
I251T |
probably damaging |
Het |
Pde9a |
C |
T |
17: 31,678,941 (GRCm39) |
Q261* |
probably null |
Het |
Ppip5k1 |
T |
C |
2: 121,177,811 (GRCm39) |
D332G |
probably damaging |
Het |
Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
Ppp1r36 |
A |
G |
12: 76,474,923 (GRCm39) |
|
probably null |
Het |
Pprc1 |
T |
C |
19: 46,049,888 (GRCm39) |
L67P |
unknown |
Het |
Prkdc |
T |
G |
16: 15,526,767 (GRCm39) |
L1346R |
probably damaging |
Het |
Prl7c1 |
A |
T |
13: 27,962,070 (GRCm39) |
M79K |
possibly damaging |
Het |
Ptprb |
C |
T |
10: 116,205,362 (GRCm39) |
|
probably null |
Het |
R3hdm1 |
T |
A |
1: 128,096,703 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
G |
12: 55,744,663 (GRCm39) |
V1276A |
probably benign |
Het |
Rapsn |
T |
C |
2: 90,875,300 (GRCm39) |
L361P |
probably benign |
Het |
Rbm22 |
G |
T |
18: 60,702,505 (GRCm39) |
A275S |
probably benign |
Het |
Rsph3a |
A |
G |
17: 8,164,940 (GRCm39) |
Y100C |
probably damaging |
Het |
Rsrp1 |
A |
T |
4: 134,651,274 (GRCm39) |
M13L |
unknown |
Het |
Rtn4 |
T |
G |
11: 29,655,536 (GRCm39) |
D169E |
probably damaging |
Het |
Setd7 |
C |
A |
3: 51,444,077 (GRCm39) |
|
probably null |
Het |
Slc38a2 |
A |
G |
15: 96,591,466 (GRCm39) |
I206T |
probably damaging |
Het |
Slc9a8 |
T |
C |
2: 167,307,278 (GRCm39) |
F321L |
probably benign |
Het |
Sppl2c |
A |
G |
11: 104,077,956 (GRCm39) |
D252G |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,082,397 (GRCm39) |
T117A |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,260,110 (GRCm39) |
F79I |
possibly damaging |
Het |
Tlr3 |
T |
A |
8: 45,850,090 (GRCm39) |
K860* |
probably null |
Het |
Ttn |
T |
C |
2: 76,625,018 (GRCm39) |
S15187G |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,041,817 (GRCm39) |
V204A |
probably benign |
Het |
Unc5c |
A |
T |
3: 141,476,922 (GRCm39) |
T363S |
possibly damaging |
Het |
Usp40 |
G |
A |
1: 87,906,201 (GRCm39) |
T678I |
possibly damaging |
Het |
Vmn1r62 |
A |
T |
7: 5,678,609 (GRCm39) |
T97S |
probably damaging |
Het |
Vmn1r85 |
T |
A |
7: 12,818,448 (GRCm39) |
H232L |
probably benign |
Het |
Vmn2r67 |
A |
G |
7: 84,785,920 (GRCm39) |
I695T |
probably damaging |
Het |
Zfp383 |
C |
A |
7: 29,611,626 (GRCm39) |
D35E |
probably damaging |
Het |
Zfp65 |
A |
T |
13: 67,877,174 (GRCm39) |
|
probably null |
Het |
Zfp692 |
A |
G |
11: 58,205,062 (GRCm39) |
K437R |
probably damaging |
Het |
Zfp831 |
A |
T |
2: 174,488,921 (GRCm39) |
T1199S |
possibly damaging |
Het |
Zfr |
T |
A |
15: 12,146,463 (GRCm39) |
I338N |
probably 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 |
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'- TTCCAATTTAGGTGTGAGTCCAG -3'
(R):5'- TGCACTGTCAGGTGTGTCAG -3'
Sequencing Primer
(F):5'- GAGTCCAGATCTTTGTGAGCACAC -3'
(R):5'- CACTGTCAGGTGTGTCAGGTCAG -3'
|
Posted On |
2019-12-20 |