Incidental Mutation 'R5335:Srgap1'
ID |
423484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
042916-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R5335 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
C to T
at 121621282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
|
AlphaFold |
Q91Z69 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161996
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188932
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (62/63) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010003K11Rik |
A |
G |
19: 4,548,292 (GRCm39) |
W86R |
probably damaging |
Het |
Ankrd6 |
T |
C |
4: 32,818,651 (GRCm39) |
E225G |
probably damaging |
Het |
Atxn10 |
A |
G |
15: 85,220,785 (GRCm39) |
|
probably null |
Het |
Bcas2 |
A |
G |
3: 103,082,951 (GRCm39) |
I146V |
probably damaging |
Het |
C2cd6 |
T |
A |
1: 59,043,393 (GRCm39) |
|
noncoding transcript |
Het |
Cachd1 |
G |
A |
4: 100,825,282 (GRCm39) |
V579I |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 113,888,889 (GRCm39) |
T311A |
unknown |
Het |
Cyp2c50 |
A |
T |
19: 40,079,060 (GRCm39) |
L134F |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,195,589 (GRCm39) |
H369R |
probably damaging |
Het |
Dis3 |
A |
G |
14: 99,335,089 (GRCm39) |
V171A |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,601,695 (GRCm39) |
N3718D |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,003,340 (GRCm39) |
I541V |
probably damaging |
Het |
Eif3i |
T |
C |
4: 129,488,979 (GRCm39) |
D86G |
probably benign |
Het |
Epc1 |
C |
T |
18: 6,490,689 (GRCm39) |
|
probably benign |
Het |
Epc2 |
A |
G |
2: 49,403,242 (GRCm39) |
N110S |
probably benign |
Het |
Epha8 |
A |
T |
4: 136,659,246 (GRCm39) |
L831Q |
probably damaging |
Het |
Esd |
G |
T |
14: 74,979,553 (GRCm39) |
R119I |
probably damaging |
Het |
F2 |
T |
C |
2: 91,465,277 (GRCm39) |
K96E |
possibly damaging |
Het |
Fcgbp |
T |
C |
7: 27,789,159 (GRCm39) |
V575A |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gemin6 |
T |
C |
17: 80,533,184 (GRCm39) |
V39A |
probably damaging |
Het |
Glmp |
G |
T |
3: 88,233,962 (GRCm39) |
|
probably benign |
Het |
Gm10306 |
C |
A |
4: 94,445,044 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
A |
T |
1: 166,325,022 (GRCm39) |
L23* |
probably null |
Het |
Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
Ifi203 |
T |
C |
1: 173,754,485 (GRCm39) |
T749A |
possibly damaging |
Het |
Kcnip2 |
C |
A |
19: 45,782,685 (GRCm39) |
A133S |
probably benign |
Het |
Limch1 |
A |
T |
5: 67,039,300 (GRCm39) |
I76F |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,739,077 (GRCm39) |
|
probably null |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtcl3 |
A |
T |
10: 29,023,102 (GRCm39) |
I150L |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,224,020 (GRCm39) |
|
probably benign |
Het |
Odad2 |
A |
T |
18: 7,294,566 (GRCm39) |
Y16N |
probably benign |
Het |
Opcml |
A |
G |
9: 28,586,621 (GRCm39) |
D113G |
possibly damaging |
Het |
Or1j17 |
A |
T |
2: 36,578,106 (GRCm39) |
I31F |
probably benign |
Het |
Or1x2 |
A |
C |
11: 50,918,161 (GRCm39) |
N111H |
probably benign |
Het |
Or2ag18 |
A |
C |
7: 106,404,941 (GRCm39) |
S243A |
probably damaging |
Het |
Or2b6 |
A |
C |
13: 21,822,949 (GRCm39) |
V248G |
probably damaging |
Het |
Or51f1d |
A |
C |
7: 102,700,742 (GRCm39) |
D79A |
probably damaging |
Het |
Or52s19 |
A |
C |
7: 103,007,729 (GRCm39) |
L224R |
probably damaging |
Het |
Or5j1 |
T |
G |
2: 86,879,509 (GRCm39) |
K24Q |
probably damaging |
Het |
Pcdhb1 |
G |
T |
18: 37,400,308 (GRCm39) |
C753F |
probably benign |
Het |
Phip |
T |
C |
9: 82,782,809 (GRCm39) |
S879G |
possibly damaging |
Het |
Pi4k2b |
A |
G |
5: 52,899,098 (GRCm39) |
D13G |
possibly damaging |
Het |
Ptpn18 |
A |
T |
1: 34,502,259 (GRCm39) |
I68F |
probably damaging |
Het |
Rnf168 |
C |
T |
16: 32,117,402 (GRCm39) |
T321I |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Sry |
A |
T |
Y: 2,663,647 (GRCm39) |
H4Q |
probably benign |
Het |
Taf2 |
G |
A |
15: 54,909,136 (GRCm39) |
A703V |
probably benign |
Het |
Taf5l |
A |
G |
8: 124,730,390 (GRCm39) |
F65L |
probably damaging |
Het |
Tcp10b |
T |
C |
17: 13,281,954 (GRCm39) |
|
probably null |
Het |
Timm44 |
A |
T |
8: 4,316,814 (GRCm39) |
I273N |
probably damaging |
Het |
Tspan4 |
A |
G |
7: 141,069,528 (GRCm39) |
T43A |
probably damaging |
Het |
Ube2r2 |
T |
C |
4: 41,190,846 (GRCm39) |
|
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,754 (GRCm39) |
T195A |
possibly damaging |
Het |
Vmn1r197 |
T |
C |
13: 22,512,361 (GRCm39) |
I94T |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,673 (GRCm39) |
I677K |
probably damaging |
Het |
Zfp853 |
T |
A |
5: 143,274,318 (GRCm39) |
H434L |
unknown |
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 |
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'- TACAAGGGTGCAGCATTGG -3'
(R):5'- AGTACTTTCAAGCCTATGGTGG -3'
Sequencing Primer
(F):5'- ACAAGGGTGCAGCATTGGATTTTTC -3'
(R):5'- CCTATGGTGGCGCCCCG -3'
|
Posted On |
2016-08-04 |