Incidental Mutation 'R5237:Srgap1'
| ID |
398543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap1
|
| Ensembl Gene |
ENSMUSG00000020121 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
| Synonyms |
Arhgap13, 4930572H05Rik |
| MMRRC Submission |
042808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R5237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121643788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 633
(Y633H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
[ENSMUST00000161156]
|
| AlphaFold |
Q91Z69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020322
AA Change: Y610H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: Y610H
| 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: Y633H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: Y633H
| 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 |
possibly damaging
Transcript: ENSMUST00000161156
AA Change: Y61H
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125109
Gene: ENSMUSG00000020121
AA Change: Y61H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RhoGAP
|
1 |
68 |
2.6e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161996
|
| Meta Mutation Damage Score |
0.8467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
100% (76/76) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,349,850 (GRCm39) |
W369* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,923,236 (GRCm39) |
M190K |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,303,906 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
A |
T |
11: 7,099,553 (GRCm39) |
I678L |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,817 (GRCm39) |
S27P |
probably benign |
Het |
| Ankrd24 |
C |
A |
10: 81,478,379 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
G |
T |
19: 6,296,844 (GRCm39) |
V383L |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,150,802 (GRCm39) |
V1105A |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,391,730 (GRCm39) |
S684T |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,550,444 (GRCm39) |
L360P |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,607,544 (GRCm39) |
Q428L |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,295,068 (GRCm39) |
|
probably benign |
Het |
| Cpeb2 |
G |
A |
5: 43,443,099 (GRCm39) |
C930Y |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,854,393 (GRCm39) |
D103G |
probably benign |
Het |
| Cyb5a |
T |
G |
18: 84,889,689 (GRCm39) |
F39L |
probably damaging |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,207 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
C |
1: 53,486,690 (GRCm39) |
|
probably null |
Het |
| Efcab9 |
A |
T |
11: 32,472,832 (GRCm39) |
I205K |
probably benign |
Het |
| Ezh1 |
A |
G |
11: 101,107,819 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
C |
A |
15: 100,591,274 (GRCm39) |
C610F |
probably damaging |
Het |
| Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
| Gcc1 |
A |
T |
6: 28,420,651 (GRCm39) |
I222K |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,221,631 (GRCm39) |
H146L |
probably benign |
Het |
| H2-T23 |
C |
T |
17: 36,341,258 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,304,728 (GRCm39) |
I3124N |
probably benign |
Het |
| Hsf2 |
C |
A |
10: 57,382,317 (GRCm39) |
D364E |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,738,016 (GRCm39) |
T250A |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,197,487 (GRCm39) |
E372G |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,478,169 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,601,609 (GRCm39) |
Y524C |
probably damaging |
Het |
| Mfsd6l |
C |
A |
11: 68,448,096 (GRCm39) |
Q316K |
probably benign |
Het |
| Mroh6 |
T |
C |
15: 75,757,840 (GRCm39) |
T417A |
possibly damaging |
Het |
| Mymk |
T |
C |
2: 26,952,200 (GRCm39) |
*181W |
probably null |
Het |
| Nup210l |
A |
G |
3: 90,087,505 (GRCm39) |
T1093A |
probably benign |
Het |
| Or10al4 |
T |
A |
17: 38,037,268 (GRCm39) |
C118S |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,443,732 (GRCm39) |
V206A |
probably benign |
Het |
| Or52w1 |
A |
T |
7: 105,018,513 (GRCm39) |
K327* |
probably null |
Het |
| Or8b54 |
C |
T |
9: 38,687,252 (GRCm39) |
R234W |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pex26 |
T |
A |
6: 121,162,806 (GRCm39) |
L119Q |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,568,249 (GRCm39) |
I1219V |
probably damaging |
Het |
| Plch2 |
A |
G |
4: 155,095,251 (GRCm39) |
V64A |
probably benign |
Het |
| Plekho1 |
A |
G |
3: 95,902,937 (GRCm39) |
V24A |
probably damaging |
Het |
| Pon2 |
A |
C |
6: 5,265,455 (GRCm39) |
S311A |
probably benign |
Het |
| Pramel31 |
G |
T |
4: 144,089,041 (GRCm39) |
E120* |
probably null |
Het |
| Rsrc2 |
T |
C |
5: 123,877,645 (GRCm39) |
|
probably benign |
Het |
| Selenov |
T |
C |
7: 27,987,572 (GRCm39) |
D295G |
probably damaging |
Het |
| Serpina10 |
T |
A |
12: 103,595,075 (GRCm39) |
Y48F |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,900,190 (GRCm39) |
D1159V |
possibly damaging |
Het |
| Setx |
C |
T |
2: 29,036,995 (GRCm39) |
T1160I |
probably benign |
Het |
| Sin3b |
A |
C |
8: 73,459,971 (GRCm39) |
|
probably null |
Het |
| Skint11 |
A |
G |
4: 114,102,042 (GRCm39) |
K352E |
possibly damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,919,118 (GRCm39) |
V914E |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,529,839 (GRCm39) |
D2032G |
probably damaging |
Het |
| Sv2c |
G |
A |
13: 96,118,391 (GRCm39) |
T486I |
possibly damaging |
Het |
| Tesk1 |
T |
C |
4: 43,447,100 (GRCm39) |
F496S |
probably damaging |
Het |
| Tfg |
T |
A |
16: 56,533,071 (GRCm39) |
E29D |
possibly damaging |
Het |
| Tnc |
G |
A |
4: 63,880,333 (GRCm39) |
T2038I |
probably damaging |
Het |
| Tor4a |
T |
G |
2: 25,084,976 (GRCm39) |
N309T |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,003,821 (GRCm39) |
T257A |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,790,828 (GRCm39) |
A621V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r6 |
A |
C |
6: 56,980,179 (GRCm39) |
Q258H |
probably damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,863 (GRCm39) |
C786R |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,557,953 (GRCm39) |
D638G |
probably benign |
Het |
| Zfp934 |
A |
G |
13: 62,665,652 (GRCm39) |
C330R |
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 |
|
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 |
|
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'- AGCCACAGTTACGCTATCTAG -3'
(R):5'- CAAGGTGTTGCTGCGAATGC -3'
Sequencing Primer
(F):5'- GCCACAGTTACGCTATCTAGAGTAG -3'
(R):5'- CGAATGCTGGGGTGTATCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation