Incidental Mutation 'R4698:Srgap1'
ID |
355844 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R4698 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 121628392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 837
(R837L)
|
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 benign
Transcript: ENSMUST00000020322
AA Change: R837L
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: R837L
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: R860L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: R860L
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
A |
G |
17: 48,349,049 (GRCm39) |
V11A |
possibly damaging |
Het |
6030452D12Rik |
T |
C |
8: 107,230,979 (GRCm39) |
I55T |
unknown |
Het |
Aadacl2 |
A |
G |
3: 59,932,460 (GRCm39) |
D325G |
probably benign |
Het |
Adh1 |
A |
G |
3: 137,988,274 (GRCm39) |
S113G |
probably benign |
Het |
Agxt2 |
T |
C |
15: 10,392,130 (GRCm39) |
|
probably null |
Het |
Aicda |
C |
T |
6: 122,530,847 (GRCm39) |
|
probably benign |
Het |
Aifm2 |
T |
C |
10: 61,563,535 (GRCm39) |
M135T |
probably benign |
Het |
Asah2 |
T |
C |
19: 32,031,871 (GRCm39) |
|
probably null |
Het |
Btbd17 |
T |
C |
11: 114,682,543 (GRCm39) |
R390G |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,705,654 (GRCm38) |
E247G |
possibly damaging |
Het |
Cds2 |
T |
C |
2: 132,146,873 (GRCm39) |
I383T |
probably damaging |
Het |
Celf3 |
T |
A |
3: 94,392,174 (GRCm39) |
|
probably null |
Het |
Crhr2 |
T |
C |
6: 55,079,852 (GRCm39) |
S162G |
possibly damaging |
Het |
Dapl1 |
A |
T |
2: 59,335,118 (GRCm39) |
K91* |
probably null |
Het |
Ddx60 |
A |
C |
8: 62,465,458 (GRCm39) |
M1372L |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,389,358 (GRCm39) |
F845I |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
Ech1 |
T |
C |
7: 28,531,478 (GRCm39) |
V310A |
probably benign |
Het |
Eef1g |
A |
G |
19: 8,955,330 (GRCm39) |
D393G |
possibly damaging |
Het |
Eif3k |
T |
C |
7: 28,671,969 (GRCm39) |
I172V |
possibly damaging |
Het |
Foxd4 |
A |
G |
19: 24,877,625 (GRCm39) |
F192L |
probably damaging |
Het |
Gpr153 |
T |
A |
4: 152,366,240 (GRCm39) |
S268R |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,394 (GRCm39) |
R129S |
probably damaging |
Het |
Ivl |
T |
C |
3: 92,478,698 (GRCm39) |
K456E |
unknown |
Het |
Kif20b |
A |
T |
19: 34,928,944 (GRCm39) |
D1190V |
probably damaging |
Het |
Kif21a |
T |
A |
15: 90,840,508 (GRCm39) |
I1223L |
possibly damaging |
Het |
Lmf1 |
T |
C |
17: 25,798,324 (GRCm39) |
V55A |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,459,987 (GRCm39) |
E659G |
possibly damaging |
Het |
Lrrc37a |
T |
C |
11: 103,394,930 (GRCm39) |
E165G |
possibly damaging |
Het |
Mios |
T |
C |
6: 8,228,113 (GRCm39) |
Y677H |
possibly damaging |
Het |
Mnx1 |
T |
A |
5: 29,679,057 (GRCm39) |
K342M |
unknown |
Het |
Mtpap |
A |
T |
18: 4,375,724 (GRCm39) |
T35S |
possibly damaging |
Het |
Ndc1 |
C |
G |
4: 107,268,334 (GRCm39) |
D623E |
probably benign |
Het |
Nedd4l |
A |
G |
18: 65,336,951 (GRCm39) |
Y666C |
probably damaging |
Het |
Or52s6 |
T |
A |
7: 103,091,842 (GRCm39) |
I163F |
possibly damaging |
Het |
Or5ac22 |
T |
C |
16: 59,135,720 (GRCm39) |
T17A |
probably damaging |
Het |
Or5b12b |
T |
G |
19: 12,861,985 (GRCm39) |
F247V |
probably benign |
Het |
Or5m10b |
A |
G |
2: 85,699,596 (GRCm39) |
Y220C |
possibly damaging |
Het |
Papss1 |
G |
T |
3: 131,313,092 (GRCm39) |
V369F |
probably damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,822 (GRCm39) |
Y601N |
probably damaging |
Het |
Pde7a |
C |
T |
3: 19,365,095 (GRCm39) |
R24Q |
probably damaging |
Het |
Phf21a |
A |
G |
2: 92,187,297 (GRCm39) |
D445G |
probably damaging |
Het |
Plekho1 |
T |
A |
3: 95,902,964 (GRCm39) |
N15I |
possibly damaging |
Het |
Pprc1 |
T |
C |
19: 46,057,634 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,724,061 (GRCm39) |
|
probably null |
Het |
Rrp12 |
T |
C |
19: 41,861,481 (GRCm39) |
E942G |
probably benign |
Het |
Skor1 |
T |
C |
9: 63,051,830 (GRCm39) |
D685G |
probably benign |
Het |
Smim23 |
A |
T |
11: 32,774,510 (GRCm39) |
I3N |
possibly damaging |
Het |
Spata7 |
A |
T |
12: 98,630,536 (GRCm39) |
I333F |
probably damaging |
Het |
Sppl2c |
T |
C |
11: 104,079,141 (GRCm39) |
I647T |
probably benign |
Het |
Stpg2 |
C |
A |
3: 139,014,990 (GRCm39) |
P385H |
probably damaging |
Het |
Tmem238 |
C |
A |
7: 4,792,016 (GRCm39) |
E19* |
probably null |
Het |
Top2b |
A |
T |
14: 16,387,331 (GRCm38) |
K140* |
probably null |
Het |
Trp53 |
T |
A |
11: 69,479,248 (GRCm39) |
L142* |
probably null |
Het |
Tyro3 |
A |
T |
2: 119,633,751 (GRCm39) |
D133V |
probably damaging |
Het |
Virma |
T |
A |
4: 11,528,636 (GRCm39) |
I1291N |
probably damaging |
Het |
Vmn1r213 |
A |
G |
13: 23,195,507 (GRCm39) |
|
probably benign |
Het |
Zbtb10 |
T |
C |
3: 9,329,610 (GRCm39) |
S323P |
possibly damaging |
Het |
Zfp521 |
A |
T |
18: 13,978,660 (GRCm39) |
N584K |
probably damaging |
Het |
Zfp944 |
A |
G |
17: 22,558,180 (GRCm39) |
C356R |
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 |
|
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 |
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'- TAGGAGGGCTGTCGATCTTC -3'
(R):5'- TTAGCCAGGTGAGATTGTTAGC -3'
Sequencing Primer
(F):5'- ATCTTCTTGAGGGAGTCATGCC -3'
(R):5'- CCAGGTGAGATTGTTAGCTCCTGAC -3'
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Posted On |
2015-10-21 |