Incidental Mutation 'R4776:Srgap1'
ID |
367949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
042413-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R4776 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 121628256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 882
(D882E)
|
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: D882E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: D882E
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: D905E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: D905E
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
|
Meta Mutation Damage Score |
0.0875 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
98% (94/96) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
A |
T |
10: 76,293,346 (GRCm39) |
M156L |
probably benign |
Het |
4930470P17Rik |
C |
T |
2: 170,421,644 (GRCm39) |
A79T |
unknown |
Het |
4930522L14Rik |
A |
G |
5: 109,884,739 (GRCm39) |
I373T |
probably benign |
Het |
Amotl1 |
G |
A |
9: 14,504,669 (GRCm39) |
Q217* |
probably null |
Het |
Ankrd28 |
A |
T |
14: 31,454,011 (GRCm39) |
C254S |
probably damaging |
Het |
Ap2a1 |
A |
G |
7: 44,550,970 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,529,995 (GRCm39) |
S245T |
probably benign |
Het |
Atp1b2 |
A |
T |
11: 69,492,387 (GRCm39) |
D224E |
probably damaging |
Het |
Bmal1 |
A |
T |
7: 112,884,244 (GRCm39) |
K94I |
probably damaging |
Het |
Boc |
G |
A |
16: 44,308,084 (GRCm39) |
R924W |
probably damaging |
Het |
Btbd8 |
C |
A |
5: 107,658,317 (GRCm39) |
A1117E |
probably damaging |
Het |
Car14 |
C |
T |
3: 95,806,185 (GRCm39) |
G292D |
probably benign |
Het |
Cenpb |
T |
C |
2: 131,020,103 (GRCm39) |
|
probably benign |
Het |
Ces1b |
A |
T |
8: 93,789,658 (GRCm39) |
D423E |
possibly damaging |
Het |
Cfap54 |
T |
A |
10: 92,808,556 (GRCm39) |
N1373I |
possibly damaging |
Het |
Chrdl2 |
T |
C |
7: 99,655,748 (GRCm39) |
|
probably benign |
Het |
Cic |
T |
G |
7: 24,982,308 (GRCm39) |
S12A |
possibly damaging |
Het |
Csmd2 |
A |
T |
4: 128,336,685 (GRCm39) |
Q1421L |
probably benign |
Het |
D630039A03Rik |
T |
C |
4: 57,910,452 (GRCm39) |
H120R |
possibly damaging |
Het |
Dicer1 |
T |
A |
12: 104,658,705 (GRCm39) |
D1779V |
probably damaging |
Het |
Dock9 |
G |
T |
14: 121,847,509 (GRCm39) |
H1016N |
possibly damaging |
Het |
Dxo |
T |
C |
17: 35,057,974 (GRCm39) |
L352P |
probably damaging |
Het |
Eif2b5 |
T |
A |
16: 20,318,983 (GRCm39) |
F78I |
probably damaging |
Het |
Eri2 |
A |
G |
7: 119,384,169 (GRCm39) |
|
probably benign |
Het |
Fbxw7 |
T |
G |
3: 84,832,996 (GRCm39) |
L13V |
possibly damaging |
Het |
Fgf7 |
T |
A |
2: 125,877,703 (GRCm39) |
C23* |
probably null |
Het |
Fubp1 |
T |
A |
3: 151,927,705 (GRCm39) |
|
probably null |
Het |
Gm2663 |
A |
T |
6: 40,972,887 (GRCm39) |
I240N |
probably damaging |
Het |
Gnb1l |
C |
T |
16: 18,366,846 (GRCm39) |
Q140* |
probably null |
Het |
Gnptab |
G |
A |
10: 88,272,390 (GRCm39) |
R1010Q |
probably damaging |
Het |
Gtf2h1 |
G |
A |
7: 46,472,302 (GRCm39) |
W544* |
probably null |
Het |
Gucy2c |
C |
T |
6: 136,699,512 (GRCm39) |
E586K |
probably damaging |
Het |
Hc |
T |
A |
2: 34,929,746 (GRCm39) |
E232V |
probably benign |
Het |
Ifi207 |
T |
A |
1: 173,557,622 (GRCm39) |
D372V |
unknown |
Het |
Igkv8-28 |
A |
T |
6: 70,121,102 (GRCm39) |
V15E |
probably benign |
Het |
Il1rap |
A |
G |
16: 26,511,549 (GRCm39) |
S198G |
possibly damaging |
Het |
Lct |
A |
G |
1: 128,228,124 (GRCm39) |
I1123T |
probably damaging |
Het |
Lhcgr |
T |
C |
17: 89,050,125 (GRCm39) |
E467G |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,369,808 (GRCm39) |
R86K |
probably benign |
Het |
Maml3 |
T |
A |
3: 51,763,953 (GRCm39) |
Q337L |
probably benign |
Het |
Marchf10 |
T |
A |
11: 105,280,863 (GRCm39) |
D474V |
probably benign |
Het |
Marchf2 |
G |
T |
17: 33,928,890 (GRCm39) |
T2K |
probably damaging |
Het |
Mast1 |
A |
G |
8: 85,663,822 (GRCm39) |
|
probably null |
Het |
Med12l |
T |
C |
3: 59,140,633 (GRCm39) |
I868T |
probably damaging |
Het |
Msrb1 |
T |
C |
17: 24,959,147 (GRCm39) |
S100P |
probably damaging |
Het |
Nlrp4c |
T |
C |
7: 6,069,125 (GRCm39) |
L342P |
probably benign |
Het |
Nrxn3 |
T |
A |
12: 90,298,730 (GRCm39) |
V417E |
possibly damaging |
Het |
Ntng1 |
T |
A |
3: 109,842,029 (GRCm39) |
D248V |
probably damaging |
Het |
Oaz3 |
T |
C |
3: 94,342,305 (GRCm39) |
Q117R |
probably benign |
Het |
Or2a56 |
A |
G |
6: 42,932,455 (GRCm39) |
I8V |
probably benign |
Het |
Or4f58 |
A |
G |
2: 111,851,276 (GRCm39) |
Y308H |
probably benign |
Het |
Or52e2 |
A |
G |
7: 102,804,621 (GRCm39) |
L111P |
probably benign |
Het |
Osbpl3 |
A |
C |
6: 50,277,953 (GRCm39) |
S767A |
probably benign |
Het |
Pafah1b1 |
A |
T |
11: 74,576,697 (GRCm39) |
|
probably benign |
Het |
Pard6b |
A |
G |
2: 167,940,708 (GRCm39) |
T232A |
probably damaging |
Het |
Paxip1 |
A |
T |
5: 27,970,204 (GRCm39) |
C596S |
probably damaging |
Het |
Pnpla6 |
T |
C |
8: 3,573,818 (GRCm39) |
V422A |
probably benign |
Het |
Psmd6 |
A |
T |
14: 14,120,932 (GRCm38) |
|
probably benign |
Het |
Relch |
T |
A |
1: 105,647,260 (GRCm39) |
Y683* |
probably null |
Het |
Rock2 |
T |
A |
12: 17,027,741 (GRCm39) |
C1353S |
probably damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Sel1l |
T |
A |
12: 91,780,667 (GRCm39) |
H658L |
probably damaging |
Het |
Sh3yl1 |
T |
A |
12: 30,990,313 (GRCm39) |
L105Q |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sirt1 |
T |
C |
10: 63,171,501 (GRCm39) |
K227E |
probably benign |
Het |
Slc25a34 |
A |
T |
4: 141,350,899 (GRCm39) |
F37I |
possibly damaging |
Het |
Slc39a5 |
T |
A |
10: 128,232,918 (GRCm39) |
I378F |
probably damaging |
Het |
Smarcad1 |
A |
T |
6: 65,075,808 (GRCm39) |
D731V |
probably null |
Het |
Sox6 |
T |
G |
7: 115,140,905 (GRCm39) |
K483N |
probably damaging |
Het |
Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
Syne4 |
T |
C |
7: 30,016,258 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,620,391 (GRCm39) |
F2170S |
probably damaging |
Het |
Tec |
T |
C |
5: 72,926,119 (GRCm39) |
Y289C |
probably benign |
Het |
Tmem102 |
A |
T |
11: 69,695,628 (GRCm39) |
Y115N |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trav17 |
T |
A |
14: 54,044,097 (GRCm39) |
M1K |
probably null |
Het |
Trdn |
T |
A |
10: 33,275,078 (GRCm39) |
|
probably null |
Het |
Trp53 |
A |
T |
11: 69,477,747 (GRCm39) |
I8F |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,006 (GRCm39) |
D22064V |
probably damaging |
Het |
Ube3c |
G |
A |
5: 29,837,836 (GRCm39) |
|
probably null |
Het |
Ulk1 |
C |
T |
5: 110,936,813 (GRCm39) |
|
probably null |
Het |
Upp1 |
T |
C |
11: 9,085,976 (GRCm39) |
V271A |
probably damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,296,082 (GRCm39) |
E901G |
probably damaging |
Het |
Vmn2r96 |
G |
A |
17: 18,817,770 (GRCm39) |
G449D |
probably damaging |
Het |
Vps37b |
T |
C |
5: 124,144,675 (GRCm39) |
K165E |
probably damaging |
Het |
Vwf |
A |
T |
6: 125,543,268 (GRCm39) |
I185F |
possibly damaging |
Het |
Wasf2 |
A |
G |
4: 132,912,315 (GRCm39) |
T56A |
probably benign |
Het |
Zdhhc23 |
C |
G |
16: 43,793,952 (GRCm39) |
D241H |
possibly damaging |
Het |
Zfp276 |
T |
C |
8: 123,981,623 (GRCm39) |
S57P |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,347,500 (GRCm39) |
H287R |
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 |
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'- CACTATACCTGAGCAATCGTCTC -3'
(R):5'- GTCATCCGGTGTCAAAAGCTC -3'
Sequencing Primer
(F):5'- AATCGTCTCGGGGTCCAGTG -3'
(R):5'- CGGTGTCAAAAGCTCTTCTG -3'
|
Posted On |
2015-12-29 |