Incidental Mutation 'R5682:Srgap1'
ID |
443137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
043318-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R5682 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121640919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 649
(M649K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
[ENSMUST00000161156]
|
AlphaFold |
Q91Z69 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020322
AA Change: M626K
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: M626K
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: M649K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: M649K
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: ENSMUST00000161996
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 95.3%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
T |
11: 94,283,723 (GRCm39) |
S7T |
probably benign |
Het |
Acot4 |
G |
A |
12: 84,085,576 (GRCm39) |
V98M |
probably damaging |
Het |
Acsm2 |
A |
T |
7: 119,162,774 (GRCm39) |
N41I |
probably benign |
Het |
Adamtsl3 |
A |
T |
7: 82,255,758 (GRCm39) |
N1590I |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,729,347 (GRCm39) |
G714R |
probably damaging |
Het |
Armh4 |
T |
C |
14: 49,989,043 (GRCm39) |
D642G |
probably damaging |
Het |
Ash1l |
G |
A |
3: 88,914,914 (GRCm39) |
R1848Q |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,081,730 (GRCm39) |
Y141N |
probably damaging |
Het |
Atxn3 |
A |
T |
12: 101,924,406 (GRCm39) |
I1N |
probably damaging |
Het |
Avil |
A |
C |
10: 126,849,973 (GRCm39) |
Q608P |
probably damaging |
Het |
Axin1 |
T |
C |
17: 26,406,775 (GRCm39) |
V456A |
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,349,940 (GRCm39) |
L635P |
probably damaging |
Het |
Card11 |
G |
A |
5: 140,888,666 (GRCm39) |
Q231* |
probably null |
Het |
Ccdc162 |
G |
A |
10: 41,432,799 (GRCm39) |
R500* |
probably null |
Het |
Cdh24 |
T |
C |
14: 54,874,805 (GRCm39) |
D400G |
probably damaging |
Het |
Cep112 |
T |
C |
11: 108,361,138 (GRCm39) |
L164P |
probably damaging |
Het |
Corin |
A |
G |
5: 72,579,497 (GRCm39) |
S224P |
possibly damaging |
Het |
Csgalnact2 |
T |
C |
6: 118,097,953 (GRCm39) |
Y371C |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,793,480 (GRCm39) |
E405V |
probably benign |
Het |
Ctnna3 |
T |
A |
10: 64,709,085 (GRCm39) |
M708K |
probably damaging |
Het |
Cyp7a1 |
T |
A |
4: 6,268,429 (GRCm39) |
Y432F |
probably benign |
Het |
Dcaf11 |
T |
A |
14: 55,800,883 (GRCm39) |
V113E |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,067,383 (GRCm39) |
I88T |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Elmo2 |
A |
G |
2: 165,139,330 (GRCm39) |
F406L |
probably damaging |
Het |
Eps15l1 |
G |
A |
8: 73,125,592 (GRCm39) |
Q648* |
probably null |
Het |
Fam171a1 |
G |
A |
2: 3,227,126 (GRCm39) |
R753Q |
probably damaging |
Het |
Figla |
T |
A |
6: 85,995,604 (GRCm39) |
V86E |
probably damaging |
Het |
Galnt7 |
C |
A |
8: 58,036,967 (GRCm39) |
E141* |
probably null |
Het |
Garnl3 |
A |
G |
2: 32,944,185 (GRCm39) |
Y125H |
probably damaging |
Het |
Gnb5 |
A |
G |
9: 75,234,523 (GRCm39) |
D74G |
probably damaging |
Het |
Grk1 |
A |
T |
8: 13,464,351 (GRCm39) |
I408F |
possibly damaging |
Het |
Has1 |
A |
T |
17: 18,064,425 (GRCm39) |
W405R |
possibly damaging |
Het |
Hdac5 |
A |
G |
11: 102,104,749 (GRCm39) |
|
probably benign |
Het |
Helq |
T |
A |
5: 100,933,170 (GRCm39) |
M555L |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,714,408 (GRCm39) |
N556S |
possibly damaging |
Het |
Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
Ing3 |
T |
C |
6: 21,968,949 (GRCm39) |
S144P |
probably damaging |
Het |
Itgb1 |
G |
A |
8: 129,453,549 (GRCm39) |
|
probably null |
Het |
Kcnh4 |
A |
T |
11: 100,640,628 (GRCm39) |
M466K |
possibly damaging |
Het |
Krit1 |
T |
A |
5: 3,880,737 (GRCm39) |
N565K |
probably damaging |
Het |
Limk1 |
A |
C |
5: 134,694,059 (GRCm39) |
|
probably null |
Het |
Lrif1 |
T |
C |
3: 106,639,884 (GRCm39) |
I323T |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,328,552 (GRCm39) |
E1811G |
probably damaging |
Het |
Mctp2 |
A |
C |
7: 71,895,207 (GRCm39) |
|
probably null |
Het |
Mmp21 |
A |
G |
7: 133,276,358 (GRCm39) |
I495T |
probably benign |
Het |
Mpz |
A |
T |
1: 170,986,463 (GRCm39) |
T126S |
possibly damaging |
Het |
Napsa |
A |
G |
7: 44,234,768 (GRCm39) |
Y301C |
possibly damaging |
Het |
Ncbp1 |
T |
A |
4: 46,170,474 (GRCm39) |
|
probably benign |
Het |
Nup160 |
A |
G |
2: 90,510,155 (GRCm39) |
E47G |
probably benign |
Het |
Or8b56 |
A |
G |
9: 38,739,424 (GRCm39) |
I146V |
probably benign |
Het |
Pcdha11 |
A |
G |
18: 37,144,502 (GRCm39) |
K198E |
probably damaging |
Het |
Pcdha3 |
A |
G |
18: 37,081,040 (GRCm39) |
D594G |
probably damaging |
Het |
Pdcd5 |
G |
A |
7: 35,346,613 (GRCm39) |
|
probably benign |
Het |
Pdhx |
A |
T |
2: 102,865,685 (GRCm39) |
S166T |
probably benign |
Het |
Pigc |
A |
G |
1: 161,798,516 (GRCm39) |
Y166C |
probably damaging |
Het |
Prkch |
C |
T |
12: 73,744,724 (GRCm39) |
H246Y |
probably damaging |
Het |
Ptk2 |
A |
T |
15: 73,134,413 (GRCm39) |
L562* |
probably null |
Het |
Rab3ip |
C |
T |
10: 116,743,008 (GRCm39) |
W439* |
probably null |
Het |
Rasef |
T |
A |
4: 73,659,208 (GRCm39) |
R435* |
probably null |
Het |
Rnf103 |
C |
T |
6: 71,485,708 (GRCm39) |
|
probably benign |
Het |
Rtel1 |
T |
C |
2: 180,991,765 (GRCm39) |
F388L |
probably benign |
Het |
Sds |
A |
C |
5: 120,621,784 (GRCm39) |
S309R |
possibly damaging |
Het |
Sgip1 |
T |
A |
4: 102,824,847 (GRCm39) |
D736E |
possibly damaging |
Het |
Sgms2 |
A |
G |
3: 131,118,611 (GRCm39) |
Y291H |
probably damaging |
Het |
Sgsm3 |
A |
G |
15: 80,895,661 (GRCm39) |
|
probably null |
Het |
Siglec1 |
T |
A |
2: 130,925,930 (GRCm39) |
I259F |
probably damaging |
Het |
Sik2 |
G |
A |
9: 50,828,382 (GRCm39) |
P220L |
probably damaging |
Het |
Slc29a3 |
A |
G |
10: 60,551,991 (GRCm39) |
V351A |
probably benign |
Het |
Slc36a3 |
A |
G |
11: 55,016,489 (GRCm39) |
S369P |
probably benign |
Het |
Thnsl1 |
A |
G |
2: 21,216,879 (GRCm39) |
E211G |
possibly damaging |
Het |
Tmprss9 |
A |
G |
10: 80,733,207 (GRCm39) |
|
probably null |
Het |
Tpgs1 |
G |
A |
10: 79,511,421 (GRCm39) |
V188M |
probably damaging |
Het |
Vmn1r201 |
G |
T |
13: 22,659,355 (GRCm39) |
V190F |
probably damaging |
Het |
Vmn1r64 |
A |
T |
7: 5,886,622 (GRCm39) |
L307Q |
possibly damaging |
Het |
Wbp11 |
T |
C |
6: 136,791,252 (GRCm39) |
|
probably benign |
Het |
Wdr35 |
A |
G |
12: 9,031,125 (GRCm39) |
Y134C |
probably damaging |
Het |
Zan |
G |
T |
5: 137,412,521 (GRCm39) |
C3263* |
probably null |
Het |
Zc3h12c |
G |
T |
9: 52,037,876 (GRCm39) |
D301E |
probably damaging |
Het |
Zfp365 |
A |
C |
10: 67,745,637 (GRCm39) |
L47R |
probably damaging |
Het |
Zmym6 |
C |
T |
4: 126,998,200 (GRCm39) |
P412L |
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 |
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 |
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'- ATTTCTCATACACGGGGCC -3'
(R):5'- GAGCCAGCTCTAAGTATGATGGG -3'
Sequencing Primer
(F):5'- GGGCCGTCCAGTTCTTTAGC -3'
(R):5'- GTGCACTCATCTTCTGAAGACTGAG -3'
|
Posted On |
2016-11-09 |