Incidental Mutation 'R9134:Srgap1'
| ID |
693850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap1
|
| Ensembl Gene |
ENSMUSG00000020121 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
| Synonyms |
Arhgap13, 4930572H05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R9134 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 121883127 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (54/57) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1m1 |
A |
G |
8: 72,993,913 (GRCm39) |
|
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,470,392 (GRCm39) |
I122N |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
| Atad5 |
G |
A |
11: 80,023,931 (GRCm39) |
R1681K |
probably benign |
Het |
| Bpifb9b |
T |
C |
2: 154,151,441 (GRCm39) |
V54A |
probably benign |
Het |
| Cby3 |
A |
C |
11: 50,250,153 (GRCm39) |
T25P |
probably damaging |
Het |
| Ccdc138 |
T |
G |
10: 58,374,102 (GRCm39) |
L374R |
probably damaging |
Het |
| Cd84 |
T |
A |
1: 171,679,413 (GRCm39) |
N30K |
probably damaging |
Het |
| Cdk20 |
T |
A |
13: 64,580,906 (GRCm39) |
|
probably null |
Het |
| Chd9 |
A |
G |
8: 91,659,754 (GRCm39) |
H238R |
unknown |
Het |
| Cplane1 |
T |
C |
15: 8,228,716 (GRCm39) |
V929A |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,237 (GRCm39) |
H276L |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,404,910 (GRCm39) |
L2544P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,978,972 (GRCm39) |
T1807A |
probably damaging |
Het |
| Dph7 |
C |
T |
2: 24,861,720 (GRCm39) |
H378Y |
probably benign |
Het |
| Enkur |
T |
C |
2: 21,185,779 (GRCm39) |
I249V |
probably benign |
Het |
| Fam117a |
C |
A |
11: 95,271,745 (GRCm39) |
S439* |
probably null |
Het |
| Fam184a |
T |
G |
10: 53,573,344 (GRCm39) |
K345N |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,765,686 (GRCm39) |
R255G |
probably benign |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,325 (GRCm39) |
M55K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,562,321 (GRCm39) |
Y729H |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,832,177 (GRCm39) |
T2989A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,547 (GRCm39) |
L145P |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,855,323 (GRCm39) |
V250E |
probably benign |
Het |
| Ide |
G |
T |
19: 37,273,561 (GRCm39) |
|
probably benign |
Het |
| Ino80c |
T |
C |
18: 24,254,765 (GRCm39) |
S32G |
probably benign |
Het |
| Insr |
G |
A |
8: 3,308,413 (GRCm39) |
R208W |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,743,351 (GRCm39) |
R1674W |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,666,514 (GRCm39) |
V1153M |
unknown |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrrc41 |
C |
A |
4: 115,945,782 (GRCm39) |
Q166K |
possibly damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,820,183 (GRCm39) |
|
probably null |
Het |
| Mndal |
T |
C |
1: 173,699,096 (GRCm39) |
I190V |
unknown |
Het |
| Nisch |
TCTGCTGC |
TCTGCTGCTGC |
14: 30,896,637 (GRCm39) |
|
probably benign |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or14c39 |
C |
A |
7: 86,344,588 (GRCm39) |
S308* |
probably null |
Het |
| Or3a1 |
A |
G |
11: 74,225,670 (GRCm39) |
I129T |
probably damaging |
Het |
| Or5b114-ps1 |
G |
T |
19: 13,352,613 (GRCm39) |
A96S |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,520,207 (GRCm39) |
|
probably benign |
Het |
| Pde4c |
G |
T |
8: 71,201,160 (GRCm39) |
V493F |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,182 (GRCm39) |
S487G |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prr23a1 |
T |
C |
9: 98,724,935 (GRCm39) |
L99P |
|
Het |
| Rex2 |
C |
G |
4: 147,142,643 (GRCm39) |
T377S |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,703,738 (GRCm39) |
F50L |
|
Het |
| Syt3 |
A |
G |
7: 44,042,791 (GRCm39) |
N358D |
possibly damaging |
Het |
| Tfec |
T |
A |
6: 16,835,326 (GRCm39) |
T151S |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,469,201 (GRCm39) |
I974N |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,321 (GRCm39) |
V338A |
probably benign |
Het |
| Trappc6b |
T |
A |
12: 59,097,160 (GRCm39) |
D54V |
probably damaging |
Het |
| Trav6-2 |
T |
A |
14: 52,905,109 (GRCm39) |
C43* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,127,755 (GRCm39) |
|
probably null |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,884 (GRCm39) |
W268R |
probably damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,832,093 (GRCm39) |
L232S |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,921,225 (GRCm39) |
T325A |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,377,659 (GRCm39) |
V438A |
probably damaging |
Het |
| Wdcp |
C |
A |
12: 4,901,533 (GRCm39) |
S463* |
probably null |
Het |
| Xkr4 |
C |
T |
1: 3,740,860 (GRCm39) |
G238S |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,886 (GRCm39) |
N179S |
probably benign |
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 |
|
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 |
|
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'- AAGTTAGACGCGGAACTCCAG -3'
(R):5'- TCTCAACAATGGTGCGCGAC -3'
Sequencing Primer
(F):5'- GCGGAACTCCAGTAGCACAATG -3'
(R):5'- AGTTTGCTCGGCTGGCCTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation