Incidental Mutation 'R8362:Srgap1'
ID |
646006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
067808-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R8362 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121691383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 284
(Y284H)
|
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 |
possibly damaging
Transcript: ENSMUST00000020322
AA Change: Y284H
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: Y284H
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: Y284H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: Y284H
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
T |
A |
19: 8,867,395 (GRCm39) |
S65T |
probably damaging |
Het |
Abcb1b |
A |
T |
5: 8,848,758 (GRCm39) |
N6I |
probably benign |
Het |
Abr |
A |
T |
11: 76,369,954 (GRCm39) |
I145N |
probably benign |
Het |
Alcam |
A |
T |
16: 52,115,387 (GRCm39) |
Y244N |
probably damaging |
Het |
Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,618,797 (GRCm39) |
L1685Q |
probably damaging |
Het |
Ascc3 |
A |
C |
10: 50,518,692 (GRCm39) |
Q332H |
possibly damaging |
Het |
Cdc42bpa |
C |
T |
1: 179,989,690 (GRCm39) |
L1720F |
probably damaging |
Het |
Clec4b1 |
T |
C |
6: 123,027,602 (GRCm39) |
S20P |
probably benign |
Het |
Cpt1a |
C |
T |
19: 3,420,744 (GRCm39) |
R401* |
probably null |
Het |
Dnah12 |
T |
A |
14: 26,576,788 (GRCm39) |
Y3013N |
probably damaging |
Het |
Dop1a |
G |
A |
9: 86,395,941 (GRCm39) |
R801H |
probably benign |
Het |
Flywch1 |
G |
T |
17: 23,975,682 (GRCm39) |
T520N |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 8,001,207 (GRCm39) |
S190P |
unknown |
Het |
Gabra1 |
G |
T |
11: 42,066,831 (GRCm39) |
Q28K |
probably benign |
Het |
Gria2 |
T |
C |
3: 80,615,197 (GRCm39) |
M428V |
possibly damaging |
Het |
H13 |
T |
A |
2: 152,528,311 (GRCm39) |
I220N |
unknown |
Het |
Hars2 |
T |
A |
18: 36,923,228 (GRCm39) |
F412L |
probably benign |
Het |
Hecw2 |
A |
T |
1: 54,079,650 (GRCm39) |
M1K |
probably null |
Het |
Homer1 |
T |
A |
13: 93,502,797 (GRCm39) |
S192T |
unknown |
Het |
Itga2b |
T |
A |
11: 102,352,189 (GRCm39) |
D464V |
probably damaging |
Het |
Ivd |
T |
A |
2: 118,708,422 (GRCm39) |
C379S |
probably damaging |
Het |
Khdc3 |
A |
T |
9: 73,010,848 (GRCm39) |
N233Y |
possibly damaging |
Het |
Lrrc37 |
A |
G |
11: 103,506,163 (GRCm39) |
V1935A |
probably benign |
Het |
Lrrfip1 |
T |
A |
1: 90,981,423 (GRCm39) |
L15Q |
probably damaging |
Het |
Megf8 |
C |
A |
7: 25,039,943 (GRCm39) |
P986Q |
probably benign |
Het |
Morc2b |
G |
T |
17: 33,357,295 (GRCm39) |
T159K |
possibly damaging |
Het |
Nudt5 |
A |
G |
2: 5,858,322 (GRCm39) |
|
probably null |
Het |
Or6c211 |
G |
T |
10: 129,506,100 (GRCm39) |
A96E |
possibly damaging |
Het |
Paqr5 |
A |
T |
9: 61,879,945 (GRCm39) |
Y116* |
probably null |
Het |
Pcnx1 |
A |
C |
12: 82,013,830 (GRCm39) |
S623R |
|
Het |
Polr1a |
T |
C |
6: 71,941,651 (GRCm39) |
V1053A |
probably benign |
Het |
Ptprt |
A |
T |
2: 161,393,667 (GRCm39) |
D1252E |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
Rasal1 |
C |
T |
5: 120,813,485 (GRCm39) |
R620W |
probably damaging |
Het |
Rbms1 |
C |
T |
2: 60,793,083 (GRCm39) |
M9I |
probably benign |
Het |
Ska3 |
T |
C |
14: 58,054,105 (GRCm39) |
N282D |
probably benign |
Het |
Slc25a24 |
T |
A |
3: 109,065,878 (GRCm39) |
I245N |
possibly damaging |
Het |
Slc26a4 |
C |
T |
12: 31,594,506 (GRCm39) |
V281I |
probably benign |
Het |
Smg8 |
A |
T |
11: 86,968,881 (GRCm39) |
Y958* |
probably null |
Het |
Spata31 |
A |
G |
13: 65,070,044 (GRCm39) |
T731A |
possibly damaging |
Het |
Spg11 |
G |
T |
2: 121,948,842 (GRCm39) |
A3D |
unknown |
Het |
Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,931,946 (GRCm39) |
T2160A |
probably damaging |
Het |
Tprg1l |
G |
C |
4: 154,244,815 (GRCm39) |
T91S |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,689,650 (GRCm39) |
V5071I |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,844,954 (GRCm39) |
N772K |
probably damaging |
Het |
Vmn2r81 |
T |
A |
10: 79,103,283 (GRCm39) |
W159R |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,546,353 (GRCm39) |
V742I |
probably benign |
Het |
Zc3h13 |
C |
A |
14: 75,561,909 (GRCm39) |
H654N |
unknown |
Het |
Zfp516 |
T |
C |
18: 83,005,019 (GRCm39) |
L641P |
probably benign |
Het |
Zfp623 |
T |
C |
15: 75,819,488 (GRCm39) |
V148A |
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 |
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 |
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'- ACCCATGTGAGACTGAAACTC -3'
(R):5'- TTTGATGGAACCCAGTCAAACATC -3'
Sequencing Primer
(F):5'- AAACTCGAATTTCATTGGCGGGC -3'
(R):5'- GCTTCTGATGTCATGCACAGGAAC -3'
|
Posted On |
2020-09-02 |