Incidental Mutation 'R1933:Srgap1'
ID |
215597 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
039951-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R1933 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 121761808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 113
(D113E)
|
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: D113E
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: D113E
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: D113E
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: D113E
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: ENSMUST00000162710
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.4%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
T |
8: 41,207,922 (GRCm39) |
Y396F |
probably benign |
Het |
Adra2a |
T |
A |
19: 54,034,837 (GRCm39) |
F64L |
probably damaging |
Het |
Ankrd45 |
A |
T |
1: 160,978,870 (GRCm39) |
N103I |
probably damaging |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
G |
9: 107,993,643 (GRCm39) |
V703A |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,950,357 (GRCm39) |
I529K |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,396,287 (GRCm39) |
N726S |
probably damaging |
Het |
Ccdc78 |
T |
A |
17: 26,006,044 (GRCm39) |
S71T |
probably damaging |
Het |
Cct5 |
G |
T |
15: 31,591,154 (GRCm39) |
Q516K |
probably benign |
Het |
Cd300c2 |
A |
T |
11: 114,891,685 (GRCm39) |
V63E |
probably benign |
Het |
Cdh16 |
A |
G |
8: 105,344,595 (GRCm39) |
V7A |
possibly damaging |
Het |
Clec16a |
T |
C |
16: 10,506,403 (GRCm39) |
F710L |
probably damaging |
Het |
Clpb |
T |
G |
7: 101,428,418 (GRCm39) |
F393V |
probably damaging |
Het |
Commd9 |
G |
A |
2: 101,731,376 (GRCm39) |
R187H |
probably damaging |
Het |
Crx |
T |
A |
7: 15,602,301 (GRCm39) |
K126* |
probably null |
Het |
Dcaf13 |
T |
A |
15: 39,001,483 (GRCm39) |
Y264N |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,455,650 (GRCm39) |
I791N |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,345,683 (GRCm39) |
D456E |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,394,414 (GRCm39) |
S1963P |
probably benign |
Het |
Efl1 |
C |
T |
7: 82,412,325 (GRCm39) |
Q905* |
probably null |
Het |
Farsa |
T |
C |
8: 85,587,780 (GRCm39) |
F104L |
probably benign |
Het |
Fbxl19 |
C |
A |
7: 127,350,101 (GRCm39) |
A231E |
probably benign |
Het |
Fbxw19 |
A |
T |
9: 109,310,718 (GRCm39) |
N401K |
probably benign |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
Frem3 |
A |
G |
8: 81,339,519 (GRCm39) |
N604S |
probably benign |
Het |
Gad1 |
T |
G |
2: 70,417,736 (GRCm39) |
C312G |
possibly damaging |
Het |
Garem2 |
G |
T |
5: 30,319,860 (GRCm39) |
E441* |
probably null |
Het |
Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
Gm8206 |
A |
T |
14: 6,022,475 (GRCm38) |
M8K |
probably benign |
Het |
Gpr162 |
G |
A |
6: 124,838,410 (GRCm39) |
S80F |
probably damaging |
Het |
Grpr |
C |
A |
X: 162,332,137 (GRCm39) |
V53L |
probably benign |
Het |
Il21 |
C |
T |
3: 37,286,635 (GRCm39) |
R27H |
probably benign |
Het |
Il21r |
C |
T |
7: 125,228,153 (GRCm39) |
T208I |
possibly damaging |
Het |
Kcnab2 |
T |
C |
4: 152,520,323 (GRCm39) |
T6A |
possibly damaging |
Het |
Klra4 |
T |
A |
6: 130,042,207 (GRCm39) |
Q20L |
possibly damaging |
Het |
Lrrtm1 |
A |
T |
6: 77,221,949 (GRCm39) |
|
probably null |
Het |
Lrrtm3 |
A |
G |
10: 63,924,292 (GRCm39) |
F292L |
possibly damaging |
Het |
Mpeg1 |
A |
T |
19: 12,440,011 (GRCm39) |
K490* |
probably null |
Het |
Myh14 |
C |
T |
7: 44,264,772 (GRCm39) |
M1671I |
probably benign |
Het |
Nebl |
A |
T |
2: 17,380,103 (GRCm39) |
M757K |
probably damaging |
Het |
Or51m1 |
G |
T |
7: 103,578,337 (GRCm39) |
M102I |
probably damaging |
Het |
Or56b1b |
A |
C |
7: 108,164,730 (GRCm39) |
F91V |
possibly damaging |
Het |
Or5aq1 |
T |
A |
2: 86,966,188 (GRCm39) |
H159L |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,280 (GRCm39) |
H2303L |
possibly damaging |
Het |
Podxl2 |
C |
T |
6: 88,826,587 (GRCm39) |
V240M |
probably benign |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Prss53 |
T |
C |
7: 127,485,434 (GRCm39) |
*553W |
probably null |
Het |
Psma3 |
T |
A |
12: 71,031,468 (GRCm39) |
M43K |
probably benign |
Het |
Rad50 |
G |
T |
11: 53,570,888 (GRCm39) |
T790K |
probably benign |
Het |
Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
Rpn1 |
T |
A |
6: 88,070,841 (GRCm39) |
V237E |
probably damaging |
Het |
Scn10a |
T |
A |
9: 119,439,064 (GRCm39) |
M1601L |
probably damaging |
Het |
Sema4f |
G |
T |
6: 82,907,908 (GRCm39) |
P180Q |
probably damaging |
Het |
Serpinb5 |
A |
G |
1: 106,803,851 (GRCm39) |
E8G |
probably damaging |
Het |
Sgcg |
C |
T |
14: 61,469,861 (GRCm39) |
V167I |
possibly damaging |
Het |
Slc25a13 |
C |
T |
6: 6,109,262 (GRCm39) |
V367M |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,068,424 (GRCm39) |
S191P |
probably benign |
Het |
Srbd1 |
A |
G |
17: 86,410,321 (GRCm39) |
V537A |
probably damaging |
Het |
Srl |
A |
G |
16: 4,310,214 (GRCm39) |
I505T |
probably damaging |
Het |
St14 |
G |
A |
9: 31,017,508 (GRCm39) |
T226I |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,529,137 (GRCm39) |
I1798N |
possibly damaging |
Het |
Sugp1 |
A |
G |
8: 70,509,225 (GRCm39) |
E166G |
possibly damaging |
Het |
Susd1 |
A |
T |
4: 59,351,695 (GRCm39) |
N455K |
possibly damaging |
Het |
Sytl3 |
T |
A |
17: 7,000,445 (GRCm39) |
V205E |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,533 (GRCm39) |
Y2183C |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tlcd3b |
T |
A |
7: 126,426,844 (GRCm39) |
|
probably null |
Het |
Tlr1 |
T |
G |
5: 65,082,781 (GRCm39) |
T599P |
possibly damaging |
Het |
Trpc6 |
G |
A |
9: 8,656,546 (GRCm39) |
D658N |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,150,957 (GRCm39) |
V546A |
possibly damaging |
Het |
Ube3c |
T |
C |
5: 29,824,657 (GRCm39) |
Y561H |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,284,405 (GRCm39) |
S42T |
probably benign |
Het |
Vps4a |
T |
C |
8: 107,771,190 (GRCm39) |
V392A |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,855,301 (GRCm39) |
E771G |
probably benign |
Het |
Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
Het |
Wnt5a |
C |
T |
14: 28,233,802 (GRCm39) |
P10L |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,312,695 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,816,903 (GRCm39) |
K132R |
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 |
|
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'- TACACATGCTCGGGTTTCACC -3'
(R):5'- CTCCATCTGCATGAGGAGTC -3'
Sequencing Primer
(F):5'- CTTAGGACAGTCGAGCCTTTAATTC -3'
(R):5'- CATCTGCATGAGGAGTCTTCTC -3'
|
Posted On |
2014-07-14 |