Incidental Mutation 'R5773:Srgap1'
ID |
445516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
043372-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R5773 (G1)
|
Quality Score |
208 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121732614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 155
(M155V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
|
AlphaFold |
Q91Z69 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020322
AA Change: M155V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: M155V
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
AA Change: M155V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: M155V
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
G |
A |
2: 155,416,614 (GRCm39) |
|
probably null |
Het |
Akna |
C |
T |
4: 63,313,307 (GRCm39) |
S272N |
probably benign |
Het |
Ap2m1 |
T |
C |
16: 20,362,140 (GRCm39) |
V416A |
probably damaging |
Het |
Atp7b |
A |
G |
8: 22,517,879 (GRCm39) |
F320L |
probably benign |
Het |
Brd1 |
T |
C |
15: 88,573,752 (GRCm39) |
K1116E |
probably benign |
Het |
Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
Cdh4 |
A |
G |
2: 179,527,789 (GRCm39) |
Y503C |
probably damaging |
Het |
Cfb |
C |
A |
17: 35,076,248 (GRCm39) |
E166* |
probably null |
Het |
Cmtm1 |
A |
T |
8: 105,031,808 (GRCm39) |
F90I |
probably damaging |
Het |
Col1a1 |
A |
T |
11: 94,830,255 (GRCm39) |
K160N |
probably benign |
Het |
Cradd |
T |
C |
10: 95,011,823 (GRCm39) |
I106V |
probably benign |
Het |
Defa17 |
A |
G |
8: 22,146,574 (GRCm39) |
R67G |
probably damaging |
Het |
Dgkh |
T |
C |
14: 78,832,895 (GRCm39) |
N765S |
probably damaging |
Het |
Dock5 |
A |
G |
14: 68,033,507 (GRCm39) |
V954A |
possibly damaging |
Het |
Eif2d |
A |
G |
1: 131,086,040 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
A |
18: 78,004,040 (GRCm39) |
F683I |
probably damaging |
Het |
Fhad1 |
T |
G |
4: 141,656,881 (GRCm39) |
K91T |
probably damaging |
Het |
Fut11 |
A |
T |
14: 20,748,383 (GRCm39) |
D476V |
probably damaging |
Het |
Gldn |
T |
C |
9: 54,241,775 (GRCm39) |
|
probably null |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,912 (GRCm39) |
|
noncoding transcript |
Het |
Gtpbp6 |
C |
A |
5: 110,254,757 (GRCm39) |
E168D |
possibly damaging |
Het |
Hinfp |
T |
A |
9: 44,210,533 (GRCm39) |
H163L |
probably benign |
Het |
Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
Ing3 |
T |
A |
6: 21,971,834 (GRCm39) |
C368S |
probably damaging |
Het |
Itih1 |
A |
G |
14: 30,657,356 (GRCm39) |
V489A |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,757,089 (GRCm39) |
L1393P |
probably damaging |
Het |
Kcnj13 |
T |
C |
1: 87,314,389 (GRCm39) |
T278A |
probably damaging |
Het |
Kntc1 |
G |
A |
5: 123,932,220 (GRCm39) |
R1338Q |
probably damaging |
Het |
Lipi |
T |
A |
16: 75,370,813 (GRCm39) |
T135S |
probably damaging |
Het |
Map7 |
A |
G |
10: 20,122,390 (GRCm39) |
K152R |
probably benign |
Het |
Mmp24 |
A |
G |
2: 155,641,829 (GRCm39) |
Y219C |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,212,208 (GRCm39) |
V565A |
possibly damaging |
Het |
Nup210 |
T |
C |
6: 91,062,865 (GRCm39) |
K265E |
probably damaging |
Het |
Or10ak9 |
A |
G |
4: 118,726,718 (GRCm39) |
T247A |
probably damaging |
Het |
Pcdha6 |
A |
T |
18: 37,102,643 (GRCm39) |
H612L |
probably benign |
Het |
Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
Pld2 |
G |
T |
11: 70,446,758 (GRCm39) |
S778I |
probably damaging |
Het |
Ppef2 |
A |
C |
5: 92,398,420 (GRCm39) |
Y33D |
probably damaging |
Het |
Ppfibp2 |
A |
T |
7: 107,285,079 (GRCm39) |
T129S |
possibly damaging |
Het |
Prickle1 |
G |
T |
15: 93,406,478 (GRCm39) |
H182N |
probably damaging |
Het |
R3hdm2 |
T |
A |
10: 127,280,172 (GRCm39) |
|
probably benign |
Het |
Rbm12b1 |
A |
T |
4: 12,145,765 (GRCm39) |
E579V |
probably damaging |
Het |
Rsf1 |
GGC |
GGCGGCGGCTGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
Slc1a6 |
T |
G |
10: 78,629,111 (GRCm39) |
|
probably null |
Het |
Slc27a6 |
G |
T |
18: 58,715,245 (GRCm39) |
A283S |
probably damaging |
Het |
Spats2l |
T |
A |
1: 57,918,708 (GRCm39) |
N27K |
possibly damaging |
Het |
Stxbp5l |
C |
A |
16: 37,028,459 (GRCm39) |
A535S |
probably damaging |
Het |
Svep1 |
C |
A |
4: 58,099,985 (GRCm39) |
C1353F |
possibly damaging |
Het |
Taar4 |
T |
A |
10: 23,837,056 (GRCm39) |
I222N |
probably damaging |
Het |
Tlr6 |
A |
G |
5: 65,111,846 (GRCm39) |
F354L |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,074,395 (GRCm39) |
S452P |
probably damaging |
Het |
Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
Usp42 |
A |
T |
5: 143,699,467 (GRCm39) |
M1264K |
probably benign |
Het |
Zfp865 |
A |
T |
7: 5,037,693 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,334,511 (GRCm39) |
L169Q |
probably damaging |
Het |
Zmym4 |
A |
T |
4: 126,799,163 (GRCm39) |
N383K |
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 |
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'- GTGCATGCTAAGCACACAC -3'
(R):5'- GACAGGACGTGTTGGACTTC -3'
Sequencing Primer
(F):5'- CTGACTAGTCTCTCTAAATGAGGAGG -3'
(R):5'- ACAGGACGTGTTGGACTTCTATTATG -3'
|
Posted On |
2016-11-21 |