Incidental Mutation 'R6028:Srgap1'
ID |
480189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
044200-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R6028 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121664635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 490
(Q490R)
|
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 |
probably null
Transcript: ENSMUST00000020322
AA Change: Q490R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: Q490R
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: ENSMUST00000218664
|
Meta Mutation Damage Score |
0.4979 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (72/72) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
T |
A |
3: 36,533,718 (GRCm39) |
|
probably null |
Het |
Acat1 |
A |
T |
9: 53,503,366 (GRCm39) |
Y158N |
probably damaging |
Het |
Adamtsl1 |
C |
A |
4: 86,260,561 (GRCm39) |
A924E |
probably damaging |
Het |
Adck1 |
A |
T |
12: 88,368,902 (GRCm39) |
M127L |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alad |
G |
T |
4: 62,428,359 (GRCm39) |
T305K |
probably benign |
Het |
Ankrd33 |
T |
C |
15: 101,016,953 (GRCm39) |
F65S |
probably damaging |
Het |
Ap3d1 |
T |
C |
10: 80,558,761 (GRCm39) |
N281S |
possibly damaging |
Het |
Arhgap30 |
A |
G |
1: 171,235,888 (GRCm39) |
D754G |
probably benign |
Het |
Asah2 |
T |
C |
19: 31,993,914 (GRCm39) |
D438G |
probably damaging |
Het |
Cachd1 |
C |
A |
4: 100,840,753 (GRCm39) |
N905K |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,370,314 (GRCm39) |
D160E |
probably damaging |
Het |
Cntln |
T |
A |
4: 84,889,410 (GRCm39) |
S298T |
probably benign |
Het |
Cplx3 |
A |
G |
9: 57,515,546 (GRCm39) |
I443T |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,387,979 (GRCm39) |
M3146K |
probably damaging |
Het |
Doc2b |
C |
A |
11: 75,663,412 (GRCm39) |
A347S |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,660,481 (GRCm39) |
|
probably null |
Het |
Eif1ad16 |
A |
T |
12: 87,985,131 (GRCm39) |
D137E |
possibly damaging |
Het |
Eps8l2 |
T |
C |
7: 140,937,746 (GRCm39) |
F422S |
possibly damaging |
Het |
Esm1 |
A |
G |
13: 113,353,201 (GRCm39) |
N161S |
possibly damaging |
Het |
Fbxw10 |
C |
T |
11: 62,764,345 (GRCm39) |
Q671* |
probably null |
Het |
Fnbp4 |
C |
A |
2: 90,581,478 (GRCm39) |
T177K |
probably benign |
Het |
Gpr137c |
C |
A |
14: 45,514,938 (GRCm39) |
Q266K |
probably damaging |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hk1 |
C |
A |
10: 62,188,837 (GRCm39) |
K25N |
probably null |
Het |
Klhl29 |
G |
T |
12: 5,140,995 (GRCm39) |
Y616* |
probably null |
Het |
Lmnb1 |
T |
G |
18: 56,876,348 (GRCm39) |
Y485* |
probably null |
Het |
Lrrc63 |
A |
G |
14: 75,323,614 (GRCm39) |
S537P |
possibly damaging |
Het |
Ltbp2 |
T |
A |
12: 84,831,626 (GRCm39) |
N1686I |
probably damaging |
Het |
Map9 |
T |
A |
3: 82,287,555 (GRCm39) |
|
probably null |
Het |
Marco |
T |
A |
1: 120,418,671 (GRCm39) |
Q194L |
probably damaging |
Het |
Mc3r |
A |
T |
2: 172,091,129 (GRCm39) |
D117V |
probably damaging |
Het |
Meltf |
T |
A |
16: 31,706,294 (GRCm39) |
D259E |
possibly damaging |
Het |
Mical1 |
A |
T |
10: 41,362,873 (GRCm39) |
M973L |
probably benign |
Het |
Mmp21 |
T |
C |
7: 133,280,443 (GRCm39) |
T176A |
probably benign |
Het |
Mterf1b |
T |
A |
5: 4,247,666 (GRCm39) |
|
probably null |
Het |
Muc16 |
G |
A |
9: 18,568,472 (GRCm39) |
S1349F |
unknown |
Het |
Nacc2 |
A |
G |
2: 25,951,590 (GRCm39) |
V415A |
probably damaging |
Het |
Ncl |
A |
G |
1: 86,283,855 (GRCm39) |
V322A |
probably benign |
Het |
Neb |
G |
A |
2: 52,083,243 (GRCm39) |
T1639I |
probably damaging |
Het |
Nfia |
A |
G |
4: 97,999,488 (GRCm39) |
H485R |
possibly damaging |
Het |
Nlrp9a |
C |
T |
7: 26,257,762 (GRCm39) |
T460I |
probably benign |
Het |
Or8g24 |
T |
A |
9: 38,989,379 (GRCm39) |
I221F |
probably damaging |
Het |
Or8k32 |
T |
A |
2: 86,369,113 (GRCm39) |
I49F |
possibly damaging |
Het |
Patl2 |
T |
A |
2: 121,956,618 (GRCm39) |
Q158L |
possibly damaging |
Het |
Pja2 |
T |
C |
17: 64,616,085 (GRCm39) |
D270G |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,786,267 (GRCm39) |
H1929R |
probably benign |
Het |
Plekhh3 |
A |
T |
11: 101,057,396 (GRCm39) |
M287K |
probably damaging |
Het |
Polb |
G |
T |
8: 23,130,011 (GRCm39) |
S187* |
probably null |
Het |
Popdc3 |
A |
G |
10: 45,194,015 (GRCm39) |
D272G |
probably benign |
Het |
Prkar2b |
A |
T |
12: 32,043,757 (GRCm39) |
D121E |
possibly damaging |
Het |
Psmd3 |
T |
A |
11: 98,576,491 (GRCm39) |
L131Q |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,875,392 (GRCm39) |
C197S |
probably damaging |
Het |
Ptprf |
A |
T |
4: 118,070,826 (GRCm39) |
V1391D |
probably benign |
Het |
Purb |
A |
G |
11: 6,425,150 (GRCm39) |
F246S |
probably damaging |
Het |
Rgs8 |
C |
A |
1: 153,566,734 (GRCm39) |
T95N |
probably damaging |
Het |
Slc2a13 |
T |
C |
15: 91,160,319 (GRCm39) |
N545S |
probably damaging |
Het |
Smpd2 |
A |
G |
10: 41,365,344 (GRCm39) |
W51R |
probably damaging |
Het |
Strbp |
G |
A |
2: 37,515,267 (GRCm39) |
T253I |
probably damaging |
Het |
Sult1d1 |
A |
T |
5: 87,707,685 (GRCm39) |
M145K |
probably damaging |
Het |
Taf5l |
A |
C |
8: 124,729,714 (GRCm39) |
|
probably null |
Het |
Tas2r131 |
T |
G |
6: 132,934,639 (GRCm39) |
I57L |
probably benign |
Het |
Tcf25 |
A |
G |
8: 124,108,176 (GRCm39) |
N77S |
possibly damaging |
Het |
Tmem253 |
A |
G |
14: 52,255,268 (GRCm39) |
T57A |
possibly damaging |
Het |
Tspan17 |
A |
G |
13: 54,941,111 (GRCm39) |
N130S |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,530,460 (GRCm39) |
S2118G |
probably benign |
Het |
Vmn2r3 |
T |
A |
3: 64,182,698 (GRCm39) |
T334S |
probably benign |
Het |
Wnk2 |
G |
T |
13: 49,229,821 (GRCm39) |
A901E |
probably damaging |
Het |
Zc3hav1 |
T |
C |
6: 38,284,275 (GRCm39) |
T947A |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,520,135 (GRCm39) |
P419L |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,819,549 (GRCm39) |
S258P |
probably damaging |
Het |
Zfp964 |
A |
G |
8: 70,116,563 (GRCm39) |
T388A |
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 |
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 |
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'- CTCTCCCCTCGTATTGGCAAAG -3'
(R):5'- GTGTACATCCGTGTTTAAGCAC -3'
Sequencing Primer
(F):5'- AATTAGTGTCTGCTTCCCACAGG -3'
(R):5'- GCACACTCTCGTGACTTAAGG -3'
|
Posted On |
2017-06-26 |