Incidental Mutation 'R5116:Srgap1'
ID |
394207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
042704-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R5116 (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 121628284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 896
(L896P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
|
AlphaFold |
Q91Z69 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020322
AA Change: L873P
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: L873P
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: L896P
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: L896P
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 |
0.0772 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.5%
|
Validation Efficiency |
97% (59/61) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,216,930 (GRCm39) |
H429R |
probably damaging |
Het |
Adam39 |
G |
T |
8: 41,278,038 (GRCm39) |
C143F |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,036,066 (GRCm39) |
V417A |
possibly damaging |
Het |
Adcy10 |
C |
A |
1: 165,347,069 (GRCm39) |
A362E |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,188,298 (GRCm39) |
E1904G |
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,541,949 (GRCm39) |
M89T |
probably benign |
Het |
Alyref |
G |
T |
11: 120,488,554 (GRCm39) |
F91L |
probably benign |
Het |
Capn3 |
G |
T |
2: 120,315,773 (GRCm39) |
M248I |
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,953,991 (GRCm39) |
I56N |
probably damaging |
Het |
Cckbr |
T |
A |
7: 105,082,862 (GRCm39) |
I75N |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,923,095 (GRCm39) |
I70T |
probably benign |
Het |
Cdh24 |
T |
C |
14: 54,873,870 (GRCm39) |
D428G |
probably benign |
Het |
Cdk5rap2 |
G |
T |
4: 70,225,475 (GRCm39) |
Q557K |
possibly damaging |
Het |
Clip1 |
C |
T |
5: 123,768,770 (GRCm39) |
A610T |
probably benign |
Het |
Dnajc16 |
A |
T |
4: 141,495,280 (GRCm39) |
Y479* |
probably null |
Het |
Fpr-rs3 |
A |
G |
17: 20,844,562 (GRCm39) |
V193A |
probably benign |
Het |
Gm29125 |
T |
C |
1: 80,361,690 (GRCm39) |
|
noncoding transcript |
Het |
H1f4 |
A |
G |
13: 23,806,270 (GRCm39) |
Y71H |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,505,549 (GRCm39) |
|
probably benign |
Het |
Immp1l |
G |
A |
2: 105,795,640 (GRCm39) |
R155H |
probably benign |
Het |
Itgad |
C |
A |
7: 127,803,065 (GRCm39) |
T7K |
probably damaging |
Het |
Itgb3 |
T |
C |
11: 104,531,903 (GRCm39) |
V370A |
probably benign |
Het |
Jak1 |
A |
G |
4: 101,012,310 (GRCm39) |
I1053T |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,080,521 (GRCm39) |
R572G |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,994,556 (GRCm39) |
D1784E |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,856,511 (GRCm39) |
V651D |
probably damaging |
Het |
Mrpl47 |
A |
G |
3: 32,787,750 (GRCm39) |
L100S |
probably damaging |
Het |
Mx1 |
T |
G |
16: 97,258,679 (GRCm39) |
N6T |
possibly damaging |
Het |
Nde1 |
T |
A |
16: 14,001,351 (GRCm39) |
M133K |
probably benign |
Het |
Nlrc5 |
T |
C |
8: 95,208,488 (GRCm39) |
L778P |
probably damaging |
Het |
Odad3 |
A |
G |
9: 21,901,424 (GRCm39) |
*595Q |
probably null |
Het |
Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
Or5l13 |
G |
A |
2: 87,779,873 (GRCm39) |
R235C |
probably benign |
Het |
Or6c3b |
A |
G |
10: 129,527,266 (GRCm39) |
S215P |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,094 (GRCm39) |
S151P |
possibly damaging |
Het |
Or8b38 |
T |
C |
9: 37,972,634 (GRCm39) |
V6A |
probably benign |
Het |
Otog |
T |
C |
7: 45,923,191 (GRCm39) |
V1022A |
probably benign |
Het |
Pcdhac1 |
G |
A |
18: 37,224,500 (GRCm39) |
V438M |
probably damaging |
Het |
Pcsk5 |
G |
A |
19: 17,440,798 (GRCm39) |
S1264F |
possibly damaging |
Het |
Pfas |
T |
C |
11: 68,881,816 (GRCm39) |
|
probably benign |
Het |
Pigr |
T |
A |
1: 130,776,768 (GRCm39) |
F648I |
probably benign |
Het |
Pla2r1 |
A |
C |
2: 60,279,250 (GRCm39) |
Y777D |
probably damaging |
Het |
Pnpla7 |
G |
T |
2: 24,911,982 (GRCm39) |
G716V |
probably damaging |
Het |
Rab11fip5 |
C |
T |
6: 85,325,789 (GRCm39) |
E206K |
probably damaging |
Het |
S100a10 |
A |
G |
3: 93,468,247 (GRCm39) |
|
probably null |
Het |
Slc35f1 |
T |
C |
10: 52,897,991 (GRCm39) |
I134T |
probably benign |
Het |
Smarcd1 |
C |
T |
15: 99,600,369 (GRCm39) |
A56V |
probably benign |
Het |
Snrk |
A |
G |
9: 121,989,396 (GRCm39) |
T247A |
probably benign |
Het |
Tmem19 |
A |
T |
10: 115,179,651 (GRCm39) |
F167I |
probably benign |
Het |
Tmprss11f |
T |
C |
5: 86,687,555 (GRCm39) |
S118G |
probably benign |
Het |
Tnc |
A |
G |
4: 63,885,452 (GRCm39) |
|
probably null |
Het |
Trem3 |
T |
C |
17: 48,556,580 (GRCm39) |
L17P |
probably benign |
Het |
Upp2 |
A |
G |
2: 58,661,554 (GRCm39) |
Y67C |
probably damaging |
Het |
Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
Zfp932 |
T |
A |
5: 110,157,242 (GRCm39) |
D280E |
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 |
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 |
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'- CAGCACTATACCTGAGCAATCG -3'
(R):5'- ATCCGGTGTCAAAAGCTCTTC -3'
Sequencing Primer
(F):5'- TATACCTGAGCAATCGTCTCGGG -3'
(R):5'- GGTGTCAAAAGCTCTTCTGTTTTC -3'
|
Posted On |
2016-06-15 |