Incidental Mutation 'IGL03088:Srgap1'
ID |
418206 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
IGL03088
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121661598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 514
(D514G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
[ENSMUST00000161156]
|
AlphaFold |
Q91Z69 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020322
AA Change: D491G
PolyPhen 2
Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: D491G
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: D514G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: D514G
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 |
probably benign
Transcript: ENSMUST00000161156
|
SMART Domains |
Protein: ENSMUSP00000125109 Gene: ENSMUSG00000020121
Domain | Start | End | E-Value | Type |
Pfam:RhoGAP
|
1 |
68 |
2.6e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218664
|
Coding Region Coverage |
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
T |
G |
11: 58,184,210 (GRCm39) |
L299R |
unknown |
Het |
Abca9 |
T |
G |
11: 110,035,087 (GRCm39) |
R693S |
probably benign |
Het |
Adamts20 |
A |
T |
15: 94,227,795 (GRCm39) |
|
probably null |
Het |
Afg1l |
T |
A |
10: 42,302,493 (GRCm39) |
D169V |
probably damaging |
Het |
Agbl1 |
T |
A |
7: 76,369,890 (GRCm39) |
M663K |
probably benign |
Het |
Angpt2 |
T |
A |
8: 18,791,039 (GRCm39) |
I86F |
probably benign |
Het |
Ankrd2 |
G |
A |
19: 42,030,424 (GRCm39) |
E160K |
probably null |
Het |
As3mt |
G |
T |
19: 46,696,233 (GRCm39) |
V14F |
probably damaging |
Het |
Atp6v0a2 |
T |
C |
5: 124,791,171 (GRCm39) |
|
probably benign |
Het |
Atp6v0d1 |
T |
A |
8: 106,257,591 (GRCm39) |
I113F |
probably damaging |
Het |
Bank1 |
A |
G |
3: 135,799,123 (GRCm39) |
I406T |
probably damaging |
Het |
Bicdl1 |
A |
G |
5: 115,801,881 (GRCm39) |
V59A |
possibly damaging |
Het |
Brsk1 |
A |
G |
7: 4,713,453 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
T |
A |
4: 11,810,473 (GRCm39) |
N721K |
probably damaging |
Het |
Cercam |
A |
G |
2: 29,771,699 (GRCm39) |
|
probably benign |
Het |
Clpb |
T |
A |
7: 101,434,656 (GRCm39) |
L484* |
probably null |
Het |
Creb3l1 |
T |
A |
2: 91,825,739 (GRCm39) |
M127L |
probably benign |
Het |
Cstdc1 |
A |
T |
2: 148,625,327 (GRCm39) |
H87L |
possibly damaging |
Het |
Ctla2b |
A |
C |
13: 61,043,874 (GRCm39) |
D122E |
probably damaging |
Het |
Cyb5rl |
C |
A |
4: 106,938,225 (GRCm39) |
Y12* |
probably null |
Het |
Dennd5a |
T |
C |
7: 109,507,588 (GRCm39) |
Y800C |
probably damaging |
Het |
Dmrt3 |
T |
G |
19: 25,600,411 (GRCm39) |
S419A |
probably benign |
Het |
Elapor1 |
A |
G |
3: 108,443,674 (GRCm39) |
W31R |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,655,543 (GRCm39) |
V381A |
possibly damaging |
Het |
Flg2 |
A |
T |
3: 93,110,498 (GRCm39) |
H842L |
unknown |
Het |
Fn1 |
A |
T |
1: 71,653,197 (GRCm39) |
|
probably null |
Het |
Fos |
A |
C |
12: 85,522,630 (GRCm39) |
T181P |
possibly damaging |
Het |
Fzd10 |
A |
G |
5: 128,679,669 (GRCm39) |
Y463C |
possibly damaging |
Het |
Gprc5b |
T |
C |
7: 118,582,856 (GRCm39) |
M338V |
probably benign |
Het |
Gsta4 |
T |
C |
9: 78,113,345 (GRCm39) |
|
probably benign |
Het |
Gstm2 |
T |
A |
3: 107,893,362 (GRCm39) |
T34S |
probably benign |
Het |
Haspin |
C |
T |
11: 73,027,451 (GRCm39) |
R546Q |
probably damaging |
Het |
Itgad |
G |
A |
7: 127,802,204 (GRCm39) |
R958H |
probably benign |
Het |
Kansl1l |
A |
T |
1: 66,774,884 (GRCm39) |
H647Q |
probably damaging |
Het |
Kif5c |
A |
C |
2: 49,634,455 (GRCm39) |
R762S |
probably benign |
Het |
Klf4 |
C |
A |
4: 55,530,758 (GRCm39) |
A68S |
possibly damaging |
Het |
Klf4 |
A |
G |
4: 55,530,811 (GRCm39) |
L50P |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,504,802 (GRCm39) |
E3502G |
probably damaging |
Het |
Krt8 |
A |
G |
15: 101,909,022 (GRCm39) |
I202T |
possibly damaging |
Het |
Lmcd1 |
A |
T |
6: 112,287,649 (GRCm39) |
T112S |
probably damaging |
Het |
Lpxn |
T |
C |
19: 12,810,575 (GRCm39) |
C340R |
probably damaging |
Het |
Man2a2 |
C |
T |
7: 80,009,082 (GRCm39) |
V844M |
possibly damaging |
Het |
Map10 |
G |
A |
8: 126,397,809 (GRCm39) |
E401K |
probably benign |
Het |
Mark4 |
A |
T |
7: 19,185,509 (GRCm39) |
L75Q |
probably damaging |
Het |
Mlf2 |
T |
G |
6: 124,910,945 (GRCm39) |
M81R |
probably damaging |
Het |
Mup3 |
A |
G |
4: 62,005,079 (GRCm39) |
I67T |
probably damaging |
Het |
Mycbpap |
T |
C |
11: 94,404,769 (GRCm39) |
|
probably null |
Het |
Myt1l |
T |
C |
12: 29,970,476 (GRCm39) |
V1185A |
probably benign |
Het |
Ncoa7 |
C |
T |
10: 30,574,121 (GRCm39) |
|
probably null |
Het |
Nos1 |
C |
A |
5: 118,005,323 (GRCm39) |
N14K |
probably damaging |
Het |
Nova2 |
G |
T |
7: 18,684,494 (GRCm39) |
V116F |
unknown |
Het |
Obox3 |
G |
A |
7: 15,360,927 (GRCm39) |
|
probably benign |
Het |
Or10h1 |
A |
T |
17: 33,418,534 (GRCm39) |
T171S |
probably benign |
Het |
Or2t46 |
T |
A |
11: 58,472,653 (GRCm39) |
|
probably benign |
Het |
Or5v1 |
A |
G |
17: 37,809,539 (GRCm39) |
|
probably benign |
Het |
Or8b50 |
A |
T |
9: 38,518,597 (GRCm39) |
S279C |
probably damaging |
Het |
P2rx5 |
T |
A |
11: 73,056,446 (GRCm39) |
|
probably benign |
Het |
Parvb |
T |
A |
15: 84,193,044 (GRCm39) |
|
probably benign |
Het |
Popdc2 |
A |
T |
16: 38,194,184 (GRCm39) |
T202S |
probably damaging |
Het |
Ppm1j |
T |
A |
3: 104,692,725 (GRCm39) |
Y411* |
probably null |
Het |
Rapgefl1 |
C |
A |
11: 98,740,058 (GRCm39) |
L484M |
probably damaging |
Het |
Septin14 |
A |
G |
5: 129,774,797 (GRCm39) |
|
probably benign |
Het |
Slf1 |
A |
G |
13: 77,232,554 (GRCm39) |
C517R |
probably damaging |
Het |
Smyd3 |
A |
G |
1: 178,921,898 (GRCm39) |
|
probably null |
Het |
Snx9 |
A |
G |
17: 5,974,885 (GRCm39) |
T458A |
probably benign |
Het |
Tbc1d14 |
A |
G |
5: 36,682,308 (GRCm39) |
S311P |
probably damaging |
Het |
Timd6 |
C |
A |
11: 46,475,244 (GRCm39) |
F146L |
probably benign |
Het |
Tmem150c |
T |
G |
5: 100,234,076 (GRCm39) |
K91N |
probably damaging |
Het |
Traf3 |
T |
A |
12: 111,228,277 (GRCm39) |
M471K |
probably damaging |
Het |
Tubd1 |
G |
T |
11: 86,443,825 (GRCm39) |
G178C |
probably damaging |
Het |
Vav2 |
T |
C |
2: 27,157,262 (GRCm39) |
K847E |
possibly damaging |
Het |
Vmn2r100 |
A |
T |
17: 19,742,301 (GRCm39) |
H225L |
probably benign |
Het |
Wrn |
A |
T |
8: 33,758,851 (GRCm39) |
|
probably benign |
Het |
Xpo7 |
T |
G |
14: 70,918,702 (GRCm39) |
S710R |
probably benign |
Het |
Zfp780b |
C |
T |
7: 27,662,417 (GRCm39) |
V713I |
possibly damaging |
Het |
Zkscan17 |
A |
T |
11: 59,378,592 (GRCm39) |
I197N |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |