Incidental Mutation 'R0675:Srgap1'
ID |
61618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
038860-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R0675 (G1)
|
Quality Score |
184 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121628140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 944
(Y944C)
|
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: Y921C
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: Y921C
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 damaging
Transcript: ENSMUST00000081688
AA Change: Y944C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: Y944C
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 |
0.0611 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
97% (88/91) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
C |
T |
5: 36,024,124 (GRCm39) |
|
probably benign |
Het |
Aire |
T |
C |
10: 77,870,327 (GRCm39) |
|
probably benign |
Het |
Akap12 |
T |
C |
10: 4,303,315 (GRCm39) |
S42P |
probably benign |
Het |
Amigo1 |
T |
C |
3: 108,098,985 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
Ank1 |
T |
A |
8: 23,600,400 (GRCm39) |
|
probably benign |
Het |
Ano5 |
A |
T |
7: 51,224,558 (GRCm39) |
T472S |
probably damaging |
Het |
Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
Cd200 |
T |
C |
16: 45,217,473 (GRCm39) |
I73V |
probably benign |
Het |
Cd47 |
T |
C |
16: 49,727,162 (GRCm39) |
I318T |
possibly damaging |
Het |
Cep290 |
A |
G |
10: 100,404,675 (GRCm39) |
|
probably null |
Het |
Cep350 |
A |
G |
1: 155,835,499 (GRCm39) |
S66P |
possibly damaging |
Het |
Cfap46 |
C |
T |
7: 139,255,950 (GRCm39) |
C300Y |
probably damaging |
Het |
Chd1 |
T |
A |
17: 15,978,523 (GRCm39) |
|
probably benign |
Het |
Chd5 |
C |
A |
4: 152,470,407 (GRCm39) |
T1913K |
probably benign |
Het |
Cimip3 |
T |
C |
17: 47,724,701 (GRCm39) |
E140G |
probably benign |
Het |
Clec4b1 |
A |
G |
6: 123,048,405 (GRCm39) |
Y180C |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,341,990 (GRCm39) |
D227V |
probably damaging |
Het |
Col19a1 |
C |
G |
1: 24,614,536 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,208,145 (GRCm39) |
M1270K |
probably benign |
Het |
Cyp2c66 |
T |
A |
19: 39,175,060 (GRCm39) |
F487I |
possibly damaging |
Het |
Dpp8 |
T |
C |
9: 64,973,784 (GRCm39) |
|
probably benign |
Het |
Duoxa1 |
A |
T |
2: 122,136,861 (GRCm39) |
|
probably benign |
Het |
Edil3 |
A |
G |
13: 89,325,399 (GRCm39) |
K263E |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,200,035 (GRCm39) |
L1013P |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,815,246 (GRCm39) |
|
probably benign |
Het |
Gab1 |
A |
G |
8: 81,496,297 (GRCm39) |
S668P |
probably damaging |
Het |
Galnt14 |
T |
C |
17: 73,852,030 (GRCm39) |
T130A |
probably damaging |
Het |
Gm10192 |
G |
A |
4: 97,071,109 (GRCm39) |
H99Y |
unknown |
Het |
Gm5592 |
A |
G |
7: 40,938,811 (GRCm39) |
T698A |
possibly damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma3 |
A |
G |
11: 98,522,017 (GRCm39) |
K149R |
probably benign |
Het |
Igkv4-71 |
A |
G |
6: 69,220,411 (GRCm39) |
S29P |
probably damaging |
Het |
Igsf10 |
C |
T |
3: 59,236,015 (GRCm39) |
V1389I |
probably benign |
Het |
Ik |
T |
C |
18: 36,880,386 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
Iqsec2 |
G |
A |
X: 150,987,120 (GRCm39) |
E398K |
possibly damaging |
Het |
Jmjd6 |
A |
G |
11: 116,731,353 (GRCm39) |
V232A |
probably damaging |
Het |
Klhdc9 |
G |
A |
1: 171,187,895 (GRCm39) |
T112M |
possibly damaging |
Het |
Marcks |
A |
G |
10: 37,017,181 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,732,918 (GRCm39) |
T829S |
probably damaging |
Het |
Mroh2a |
C |
A |
1: 88,156,102 (GRCm39) |
A78E |
probably damaging |
Het |
Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
Mtmr14 |
A |
T |
6: 113,247,608 (GRCm39) |
H518L |
probably damaging |
Het |
Myo5c |
T |
C |
9: 75,185,571 (GRCm39) |
M978T |
probably benign |
Het |
Nlrc3 |
T |
C |
16: 3,766,775 (GRCm39) |
I1015V |
probably benign |
Het |
Nlrp5 |
C |
A |
7: 23,116,842 (GRCm39) |
Q189K |
possibly damaging |
Het |
Or1e26 |
A |
C |
11: 73,480,078 (GRCm39) |
L162R |
probably damaging |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or51f1d |
A |
G |
7: 102,700,909 (GRCm39) |
I135V |
probably benign |
Het |
Or8k35 |
T |
C |
2: 86,424,423 (GRCm39) |
I250V |
probably benign |
Het |
Otof |
T |
A |
5: 30,539,705 (GRCm39) |
Y1051F |
probably benign |
Het |
Pcdhb14 |
C |
A |
18: 37,581,392 (GRCm39) |
T166K |
possibly damaging |
Het |
Pla2g4e |
A |
G |
2: 120,030,679 (GRCm39) |
|
probably benign |
Het |
Polr3gl |
T |
C |
3: 96,489,471 (GRCm39) |
E20G |
probably damaging |
Het |
Psmd1 |
A |
G |
1: 86,009,761 (GRCm39) |
D295G |
probably benign |
Het |
Ptpn21 |
C |
A |
12: 98,654,475 (GRCm39) |
A831S |
probably benign |
Het |
Pwwp3a |
T |
A |
10: 80,065,914 (GRCm39) |
V56E |
probably damaging |
Het |
Rd3l |
T |
C |
12: 111,946,596 (GRCm39) |
D60G |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,332,660 (GRCm39) |
D2624G |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,541,066 (GRCm39) |
D347G |
probably damaging |
Het |
Sema4g |
G |
A |
19: 44,986,026 (GRCm39) |
R289H |
probably damaging |
Het |
Sema5b |
C |
T |
16: 35,480,703 (GRCm39) |
T761I |
probably benign |
Het |
Septin1 |
A |
T |
7: 126,816,171 (GRCm39) |
F86L |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,415,591 (GRCm39) |
V627A |
possibly damaging |
Het |
Slc25a46 |
C |
A |
18: 31,742,641 (GRCm39) |
G75V |
probably benign |
Het |
Slc45a2 |
T |
A |
15: 11,025,864 (GRCm39) |
Y405N |
probably damaging |
Het |
Spidr |
T |
C |
16: 15,855,498 (GRCm39) |
E339G |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,067,903 (GRCm39) |
H1770Q |
probably damaging |
Het |
Supt20 |
C |
T |
3: 54,614,390 (GRCm39) |
T169I |
probably damaging |
Het |
Tie1 |
G |
A |
4: 118,336,966 (GRCm39) |
Q587* |
probably null |
Het |
Tmem214 |
A |
G |
5: 31,029,169 (GRCm39) |
T203A |
possibly damaging |
Het |
Tmprss15 |
C |
A |
16: 78,782,838 (GRCm39) |
S742I |
probably damaging |
Het |
Wdr87-ps |
T |
C |
7: 29,231,942 (GRCm39) |
|
noncoding transcript |
Het |
Zfhx2 |
A |
G |
14: 55,300,620 (GRCm39) |
V2377A |
probably damaging |
Het |
Zfp763 |
G |
A |
17: 33,238,774 (GRCm39) |
H124Y |
possibly damaging |
Het |
Zfp846 |
T |
C |
9: 20,504,853 (GRCm39) |
S238P |
probably benign |
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 |
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'- TGGCAAGCGATTCACAGCCAAG -3'
(R):5'- AGCGTCATCCGGTGTCAAAAGCTC -3'
Sequencing Primer
(F):5'- GCGATTCACAGCCAAGCTTTAG -3'
(R):5'- CGGTGTCAAAAGCTCTTCTG -3'
|
Posted On |
2013-07-30 |