Incidental Mutation 'R1454:Srgap1'
ID |
162213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
039509-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R1454 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121732643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 145
(E145V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
|
AlphaFold |
Q91Z69 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020322
AA Change: E145V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: E145V
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: E145V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: E145V
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
|
Meta Mutation Damage Score |
0.3690 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.2%
|
Validation Efficiency |
97% (58/60) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
A |
G |
16: 85,666,881 (GRCm39) |
V537A |
possibly damaging |
Het |
Adcy10 |
A |
T |
1: 165,342,949 (GRCm39) |
I272F |
possibly damaging |
Het |
Adcy6 |
A |
G |
15: 98,502,609 (GRCm39) |
S2P |
probably damaging |
Het |
Agap1 |
A |
G |
1: 89,765,528 (GRCm39) |
|
probably null |
Het |
Aldh3a2 |
A |
G |
11: 61,155,928 (GRCm39) |
V116A |
probably benign |
Het |
Ankdd1b |
A |
T |
13: 96,569,913 (GRCm39) |
|
probably null |
Het |
Antxrl |
G |
A |
14: 33,782,906 (GRCm39) |
V233I |
probably damaging |
Het |
Atp8b5 |
A |
G |
4: 43,302,590 (GRCm39) |
I38V |
probably benign |
Het |
Atxn7l2 |
A |
G |
3: 108,115,748 (GRCm39) |
|
probably benign |
Het |
Bfsp2 |
A |
T |
9: 103,357,424 (GRCm39) |
M1K |
probably null |
Het |
Camsap3 |
T |
A |
8: 3,653,968 (GRCm39) |
I520N |
possibly damaging |
Het |
Cenpc1 |
C |
T |
5: 86,161,369 (GRCm39) |
V854I |
possibly damaging |
Het |
Csnk2a1 |
T |
C |
2: 152,099,347 (GRCm39) |
L88S |
probably damaging |
Het |
Dcaf17 |
A |
G |
2: 70,903,517 (GRCm39) |
N171D |
probably damaging |
Het |
Dctn1 |
G |
C |
6: 83,174,490 (GRCm39) |
A1077P |
possibly damaging |
Het |
Dock1 |
T |
C |
7: 134,453,338 (GRCm39) |
|
probably benign |
Het |
Egfr |
A |
T |
11: 16,839,920 (GRCm39) |
I645L |
probably benign |
Het |
Gdpd1 |
T |
G |
11: 86,950,335 (GRCm39) |
K79N |
possibly damaging |
Het |
Ggt5 |
A |
T |
10: 75,445,742 (GRCm39) |
L432F |
probably benign |
Het |
Gm11060 |
A |
G |
2: 104,924,097 (GRCm39) |
T22A |
unknown |
Het |
Gpr132 |
G |
A |
12: 112,815,860 (GRCm39) |
T322I |
possibly damaging |
Het |
Grin1 |
G |
A |
2: 25,182,442 (GRCm39) |
R940* |
probably null |
Het |
Hip1 |
T |
C |
5: 135,467,486 (GRCm39) |
T316A |
probably benign |
Het |
Hnrnpm |
A |
G |
17: 33,885,462 (GRCm39) |
|
probably benign |
Het |
Hsd3b5 |
G |
A |
3: 98,526,846 (GRCm39) |
T200I |
probably benign |
Het |
Hspa9 |
A |
T |
18: 35,071,659 (GRCm39) |
L647H |
probably damaging |
Het |
Itgad |
T |
C |
7: 127,791,309 (GRCm39) |
I727T |
probably benign |
Het |
Kcnma1 |
T |
C |
14: 23,513,268 (GRCm39) |
D522G |
probably damaging |
Het |
Lipf |
C |
T |
19: 33,948,132 (GRCm39) |
|
probably benign |
Het |
Ly6i |
T |
C |
15: 74,854,904 (GRCm39) |
D2G |
possibly damaging |
Het |
Mast1 |
G |
A |
8: 85,647,264 (GRCm39) |
P631L |
probably damaging |
Het |
Mmp1b |
G |
C |
9: 7,386,693 (GRCm39) |
L144V |
probably damaging |
Het |
Msh6 |
A |
G |
17: 88,292,186 (GRCm39) |
S314G |
probably benign |
Het |
Myo5c |
G |
A |
9: 75,170,348 (GRCm39) |
V493I |
possibly damaging |
Het |
Nefm |
A |
G |
14: 68,358,828 (GRCm39) |
L402P |
probably damaging |
Het |
Nrxn2 |
T |
C |
19: 6,531,476 (GRCm39) |
F697S |
probably damaging |
Het |
Or13c7b |
A |
T |
4: 43,820,639 (GRCm39) |
C241S |
probably damaging |
Het |
Pex13 |
A |
G |
11: 23,599,422 (GRCm39) |
I363T |
probably benign |
Het |
Plcb3 |
T |
C |
19: 6,932,414 (GRCm39) |
R1082G |
possibly damaging |
Het |
Psg28 |
A |
T |
7: 18,161,889 (GRCm39) |
S205T |
possibly damaging |
Het |
Pxt1 |
C |
A |
17: 29,153,756 (GRCm39) |
V26L |
possibly damaging |
Het |
Ripk2 |
G |
A |
4: 16,163,239 (GRCm39) |
T53M |
probably damaging |
Het |
Slc5a9 |
A |
G |
4: 111,741,161 (GRCm39) |
V495A |
probably benign |
Het |
Snrpa |
T |
C |
7: 26,892,362 (GRCm39) |
K66R |
probably benign |
Het |
Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
Tatdn2 |
T |
A |
6: 113,681,288 (GRCm39) |
D440E |
probably benign |
Het |
Tbc1d21 |
A |
G |
9: 58,270,096 (GRCm39) |
|
probably null |
Het |
Tbc1d31 |
T |
A |
15: 57,815,034 (GRCm39) |
Y570* |
probably null |
Het |
Tbc1d32 |
A |
T |
10: 56,053,575 (GRCm39) |
|
probably benign |
Het |
Tdrd5 |
G |
C |
1: 156,087,406 (GRCm39) |
Q839E |
probably benign |
Het |
Tecpr2 |
A |
G |
12: 110,935,387 (GRCm39) |
N1402S |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,953,153 (GRCm39) |
D921G |
probably damaging |
Het |
Tll1 |
A |
G |
8: 64,491,524 (GRCm39) |
V803A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trpm4 |
T |
C |
7: 44,966,480 (GRCm39) |
E461G |
probably damaging |
Het |
Zp3 |
T |
A |
5: 136,013,042 (GRCm39) |
I152N |
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 |
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'- AGATTTAACAAGAAGAGCGTCCGCC -3'
(R):5'- CATGACACTTCACCCTGTGTAAGCC -3'
Sequencing Primer
(F):5'- CAACACTACGGCTTGGAGG -3'
(R):5'- ggggggCATCAGGCAAC -3'
|
Posted On |
2014-03-14 |