Incidental Mutation 'R2211:Srgap1'
ID |
239390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
040213-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R2211 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121689645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 345
(V345A)
|
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: V345A
PolyPhen 2
Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: V345A
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: V345A
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: V345A
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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
A |
G |
8: 25,118,171 (GRCm39) |
S34P |
probably damaging |
Het |
Adam23 |
T |
A |
1: 63,612,288 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
A |
T |
1: 165,345,781 (GRCm39) |
I277F |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,467,993 (GRCm39) |
S1736T |
possibly damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,451 (GRCm39) |
M242K |
possibly damaging |
Het |
Arhgef18 |
T |
C |
8: 3,437,680 (GRCm39) |
S268P |
possibly damaging |
Het |
Astn1 |
A |
G |
1: 158,484,876 (GRCm39) |
R4G |
probably benign |
Het |
AU041133 |
G |
A |
10: 81,986,755 (GRCm39) |
C135Y |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,268,288 (GRCm39) |
V53A |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,301,783 (GRCm39) |
D428G |
possibly damaging |
Het |
Cebpa |
T |
C |
7: 34,819,891 (GRCm39) |
S350P |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,214,279 (GRCm39) |
M152V |
probably null |
Het |
Cpa4 |
A |
G |
6: 30,583,649 (GRCm39) |
N255S |
possibly damaging |
Het |
Ddx51 |
T |
A |
5: 110,803,634 (GRCm39) |
D343E |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,518,932 (GRCm39) |
I2942V |
probably benign |
Het |
Dnajc1 |
G |
T |
2: 18,397,286 (GRCm39) |
A9E |
probably damaging |
Het |
Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
Edem3 |
A |
G |
1: 151,680,453 (GRCm39) |
D526G |
possibly damaging |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Etaa1 |
G |
A |
11: 17,902,686 (GRCm39) |
Q84* |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam149a |
G |
A |
8: 45,794,046 (GRCm39) |
T674I |
probably damaging |
Het |
Fam98a |
A |
G |
17: 75,845,940 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
G |
3: 38,945,676 (GRCm39) |
N1523S |
possibly damaging |
Het |
Fbxw10 |
A |
G |
11: 62,758,361 (GRCm39) |
T529A |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,526,870 (GRCm39) |
A447V |
probably damaging |
Het |
Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
Hic1 |
T |
A |
11: 75,060,210 (GRCm39) |
R46W |
possibly damaging |
Het |
Id4 |
T |
A |
13: 48,415,278 (GRCm39) |
L102Q |
probably damaging |
Het |
Il3ra |
T |
C |
14: 14,355,029 (GRCm38) |
C271R |
probably benign |
Het |
Ints4 |
T |
C |
7: 97,158,957 (GRCm39) |
I443T |
possibly damaging |
Het |
Lmln |
A |
G |
16: 32,930,148 (GRCm39) |
E535G |
probably benign |
Het |
Lrrtm4 |
A |
G |
6: 79,999,623 (GRCm39) |
H345R |
probably benign |
Het |
Ltbp3 |
T |
C |
19: 5,803,990 (GRCm39) |
I834T |
possibly damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Ms4a18 |
C |
A |
19: 10,974,669 (GRCm39) |
V341L |
probably benign |
Het |
Nbr1 |
T |
C |
11: 101,458,090 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
C |
11: 79,334,890 (GRCm39) |
M914T |
probably benign |
Het |
Notch3 |
T |
A |
17: 32,366,952 (GRCm39) |
H861L |
probably benign |
Het |
Nup58 |
A |
G |
14: 60,470,089 (GRCm39) |
F341L |
probably damaging |
Het |
Ogfod2 |
C |
A |
5: 124,250,843 (GRCm39) |
|
probably null |
Het |
Oit3 |
T |
C |
10: 59,263,892 (GRCm39) |
D414G |
probably damaging |
Het |
Or6c5c |
A |
T |
10: 129,298,809 (GRCm39) |
K88M |
probably damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,320 (GRCm39) |
H191R |
probably benign |
Het |
Or8k32 |
T |
C |
2: 86,368,857 (GRCm39) |
Y132C |
probably damaging |
Het |
Or9q2 |
T |
A |
19: 13,772,733 (GRCm39) |
M81L |
probably benign |
Het |
Pals1 |
A |
T |
12: 78,844,022 (GRCm39) |
K75N |
possibly damaging |
Het |
Pcbp4 |
C |
A |
9: 106,337,933 (GRCm39) |
H74Q |
probably benign |
Het |
Pip5k1b |
A |
T |
19: 24,356,214 (GRCm39) |
D241E |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,554,015 (GRCm39) |
D102G |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,471,587 (GRCm39) |
E4K |
possibly damaging |
Het |
Ppargc1a |
A |
C |
5: 51,631,601 (GRCm39) |
S343A |
possibly damaging |
Het |
Ppwd1 |
G |
A |
13: 104,343,650 (GRCm39) |
S585L |
probably benign |
Het |
Rarg |
T |
C |
15: 102,147,959 (GRCm39) |
N284S |
probably benign |
Het |
Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
Rp1 |
A |
C |
1: 4,418,362 (GRCm39) |
S917A |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGAGGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rsph3b |
T |
C |
17: 7,209,139 (GRCm39) |
S189G |
probably benign |
Het |
Sec31b |
A |
T |
19: 44,511,589 (GRCm39) |
L604Q |
probably damaging |
Het |
Sema6b |
T |
A |
17: 56,431,741 (GRCm39) |
I641F |
probably benign |
Het |
Slc35f5 |
A |
T |
1: 125,507,001 (GRCm39) |
I309F |
possibly damaging |
Het |
Smarca4 |
A |
G |
9: 21,597,325 (GRCm39) |
E1360G |
probably damaging |
Het |
Spata31d1c |
T |
C |
13: 65,183,753 (GRCm39) |
S432P |
probably benign |
Het |
Spsb3 |
T |
C |
17: 25,109,911 (GRCm39) |
|
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,067,034 (GRCm39) |
D1960G |
probably damaging |
Het |
Tiam2 |
C |
A |
17: 3,465,193 (GRCm39) |
C307* |
probably null |
Het |
Trim43b |
T |
A |
9: 88,967,302 (GRCm39) |
T444S |
possibly damaging |
Het |
Trmt13 |
A |
G |
3: 116,388,403 (GRCm39) |
I11T |
probably benign |
Het |
Ylpm1 |
A |
T |
12: 85,091,152 (GRCm39) |
R1073* |
probably null |
Het |
Zfp524 |
T |
C |
7: 5,020,918 (GRCm39) |
S149P |
probably damaging |
Het |
Zfp777 |
T |
C |
6: 48,020,819 (GRCm39) |
I312V |
possibly 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 |
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 |
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'- ACACCTACCTCCTCTTAGGGAC -3'
(R):5'- TTAAGTAAGCGTGAGACCGG -3'
Sequencing Primer
(F):5'- TCCTCTTAGGGACCACGC -3'
(R):5'- CTTATAACCCCATGGCTAAGGGTG -3'
|
Posted On |
2014-10-15 |