Incidental Mutation 'R0365:Srgap1'
ID |
36361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
038571-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R0365 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121621610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 984
(H984L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
|
AlphaFold |
Q91Z69 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020322
AA Change: H961L
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: H961L
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 |
possibly damaging
Transcript: ENSMUST00000081688
AA Change: H984L
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: H984L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188932
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.8%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,892,088 (GRCm39) |
M173K |
probably benign |
Het |
Abcb1b |
T |
A |
5: 8,856,009 (GRCm39) |
F39Y |
probably damaging |
Het |
Acbd3 |
A |
G |
1: 180,566,177 (GRCm39) |
Y290C |
probably damaging |
Het |
Alg12 |
A |
C |
15: 88,700,352 (GRCm39) |
I28R |
possibly damaging |
Het |
Amer2 |
A |
T |
14: 60,616,984 (GRCm39) |
D393V |
probably damaging |
Het |
Anxa5 |
A |
T |
3: 36,511,618 (GRCm39) |
V153D |
probably damaging |
Het |
Arl5a |
T |
C |
2: 52,306,141 (GRCm39) |
M64V |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,516,118 (GRCm39) |
L1236P |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,297,713 (GRCm39) |
S424P |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,510,617 (GRCm39) |
S239R |
probably benign |
Het |
Baz1b |
T |
C |
5: 135,268,985 (GRCm39) |
V1278A |
probably benign |
Het |
Cbfa2t3 |
G |
T |
8: 123,361,799 (GRCm39) |
L408I |
probably benign |
Het |
Cdc27 |
A |
T |
11: 104,419,250 (GRCm39) |
N227K |
possibly damaging |
Het |
Cdh20 |
A |
T |
1: 110,036,486 (GRCm39) |
Q555H |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,215,094 (GRCm39) |
N1412I |
probably damaging |
Het |
Cdhr2 |
T |
C |
13: 54,866,105 (GRCm39) |
S302P |
probably benign |
Het |
Cep350 |
C |
A |
1: 155,782,317 (GRCm39) |
E1563D |
probably benign |
Het |
Cfap221 |
T |
A |
1: 119,912,753 (GRCm39) |
E107V |
probably benign |
Het |
Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
Coro6 |
A |
T |
11: 77,354,916 (GRCm39) |
I60F |
probably benign |
Het |
Dennd2b |
A |
T |
7: 109,138,156 (GRCm39) |
V753E |
probably damaging |
Het |
Dock10 |
G |
T |
1: 80,573,400 (GRCm39) |
N245K |
probably damaging |
Het |
Epb41l2 |
T |
A |
10: 25,345,119 (GRCm39) |
N286K |
probably damaging |
Het |
Fam83g |
G |
T |
11: 61,593,935 (GRCm39) |
E490* |
probably null |
Het |
Gnb1l |
T |
C |
16: 18,371,211 (GRCm39) |
I234T |
possibly damaging |
Het |
Gtf3a |
T |
A |
5: 146,885,747 (GRCm39) |
W53R |
probably damaging |
Het |
Ikzf4 |
T |
C |
10: 128,470,276 (GRCm39) |
I415V |
probably benign |
Het |
Il11ra1 |
T |
C |
4: 41,767,527 (GRCm39) |
V293A |
probably damaging |
Het |
Il17ra |
G |
A |
6: 120,455,410 (GRCm39) |
V340M |
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Kif24 |
A |
T |
4: 41,428,731 (GRCm39) |
H76Q |
probably benign |
Het |
Klhl25 |
T |
C |
7: 75,516,264 (GRCm39) |
L390P |
probably damaging |
Het |
Klhl26 |
T |
C |
8: 70,904,479 (GRCm39) |
D443G |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,640,064 (GRCm39) |
R86S |
probably damaging |
Het |
Lrrc24 |
G |
A |
15: 76,599,984 (GRCm39) |
A385V |
probably benign |
Het |
Maea |
C |
T |
5: 33,517,787 (GRCm39) |
A109V |
probably benign |
Het |
Mtor |
A |
T |
4: 148,570,507 (GRCm39) |
Y1188F |
probably benign |
Het |
Nccrp1 |
T |
C |
7: 28,243,977 (GRCm39) |
D202G |
probably damaging |
Het |
Nsun4 |
A |
T |
4: 115,901,935 (GRCm39) |
L177Q |
probably damaging |
Het |
Nup155 |
C |
T |
15: 8,161,027 (GRCm39) |
R571W |
probably damaging |
Het |
Nup160 |
T |
A |
2: 90,539,188 (GRCm39) |
M789K |
probably benign |
Het |
Odad2 |
T |
A |
18: 7,217,800 (GRCm39) |
H638L |
probably benign |
Het |
Or5an1c |
A |
G |
19: 12,218,440 (GRCm39) |
F195S |
probably benign |
Het |
Or5p50 |
A |
T |
7: 107,422,124 (GRCm39) |
L184* |
probably null |
Het |
Or8d2b |
A |
T |
9: 38,788,481 (GRCm39) |
H3L |
probably benign |
Het |
Pgpep1 |
G |
T |
8: 71,105,174 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
C |
T |
8: 117,748,589 (GRCm39) |
V1861M |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
Plin4 |
G |
T |
17: 56,411,667 (GRCm39) |
T788K |
possibly damaging |
Het |
Ppp3r2 |
T |
C |
4: 49,681,902 (GRCm39) |
D16G |
possibly damaging |
Het |
Pramel22 |
G |
T |
4: 143,382,071 (GRCm39) |
Y208* |
probably null |
Het |
Prdm16 |
A |
T |
4: 154,426,513 (GRCm39) |
I424N |
probably damaging |
Het |
Psen2 |
T |
A |
1: 180,056,410 (GRCm39) |
I396F |
probably damaging |
Het |
Psip1 |
C |
T |
4: 83,403,949 (GRCm39) |
|
probably null |
Het |
Ptprd |
G |
A |
4: 76,055,083 (GRCm39) |
T215I |
probably damaging |
Het |
Rec114 |
A |
G |
9: 58,648,822 (GRCm39) |
S2P |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,378,410 (GRCm39) |
I1181T |
probably damaging |
Het |
Rfx7 |
T |
C |
9: 72,527,118 (GRCm39) |
M1436T |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,316,937 (GRCm39) |
V1020E |
possibly damaging |
Het |
Rorc |
G |
A |
3: 94,296,069 (GRCm39) |
G83S |
probably damaging |
Het |
Ryr2 |
T |
G |
13: 11,683,725 (GRCm39) |
Q3113P |
possibly damaging |
Het |
Shank1 |
T |
C |
7: 44,003,401 (GRCm39) |
S1698P |
possibly damaging |
Het |
Slc2a2 |
T |
C |
3: 28,762,828 (GRCm39) |
|
probably null |
Het |
Slc5a9 |
A |
T |
4: 111,749,033 (GRCm39) |
Y98* |
probably null |
Het |
Smc6 |
T |
C |
12: 11,333,175 (GRCm39) |
|
probably null |
Het |
Sptb |
G |
T |
12: 76,647,157 (GRCm39) |
F1959L |
probably benign |
Het |
Ssc5d |
T |
A |
7: 4,931,466 (GRCm39) |
C224* |
probably null |
Het |
Ston2 |
A |
T |
12: 91,614,634 (GRCm39) |
H591Q |
probably benign |
Het |
Tbx3 |
C |
T |
5: 119,813,315 (GRCm39) |
A222V |
possibly damaging |
Het |
Thsd7a |
A |
G |
6: 12,321,886 (GRCm39) |
|
probably null |
Het |
Usp9y |
T |
C |
Y: 1,364,732 (GRCm39) |
D1027G |
probably damaging |
Het |
Wnt5a |
C |
T |
14: 28,240,461 (GRCm39) |
R184* |
probably null |
Het |
Zfpm2 |
A |
G |
15: 40,637,462 (GRCm39) |
E74G |
possibly damaging |
Het |
Zwint |
C |
A |
10: 72,493,127 (GRCm39) |
S223* |
probably null |
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 |
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 |
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'- AGGAAGGTTGTGGATCACCCACTC -3'
(R):5'- AGCGTACAAACCCTGTGGACAGAC -3'
Sequencing Primer
(F):5'- ACATCGTGCAAGACTTGTCTG -3'
(R):5'- CCCTGTGGACAGACTGTAAAG -3'
|
Posted On |
2013-05-09 |