Incidental Mutation 'R4951:Srgap1'
ID |
381996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
042548-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R4951 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121621457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1012
(M1012K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
|
AlphaFold |
Q91Z69 |
PDB Structure |
Crystal structure of srGAP1 SH3 domain in the slit-robo signaling pathway [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000020322
AA Change: M1012K
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: M1012K
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 benign
Transcript: ENSMUST00000081688
AA Change: M1035K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: M1035K
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188932
|
Meta Mutation Damage Score |
0.1176 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
98% (94/96) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
G |
A |
11: 7,088,336 (GRCm39) |
E452K |
possibly damaging |
Het |
Adcy10 |
T |
C |
1: 165,391,532 (GRCm39) |
L1263P |
probably damaging |
Het |
Adgrg1 |
G |
A |
8: 95,731,874 (GRCm39) |
V179M |
probably damaging |
Het |
Agap1 |
T |
A |
1: 89,537,225 (GRCm39) |
V77E |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,995,199 (GRCm39) |
K5494N |
probably damaging |
Het |
Arhgap19 |
A |
G |
19: 41,762,545 (GRCm39) |
M437T |
probably benign |
Het |
C2cd4c |
C |
A |
10: 79,448,839 (GRCm39) |
A103S |
possibly damaging |
Het |
Clip1 |
A |
T |
5: 123,768,408 (GRCm39) |
D776E |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,145,986 (GRCm39) |
V952M |
possibly damaging |
Het |
Col6a6 |
A |
G |
9: 105,644,397 (GRCm39) |
|
probably null |
Het |
Crtac1 |
C |
T |
19: 42,402,570 (GRCm39) |
A13T |
probably benign |
Het |
Ddx50 |
C |
T |
10: 62,469,899 (GRCm39) |
A363T |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,890,547 (GRCm39) |
V241A |
probably benign |
Het |
Dysf |
T |
C |
6: 84,091,102 (GRCm39) |
|
probably null |
Het |
Enpp3 |
A |
T |
10: 24,674,175 (GRCm39) |
M375K |
probably damaging |
Het |
Fam13c |
G |
A |
10: 70,387,621 (GRCm39) |
|
probably null |
Het |
Ftcd |
C |
T |
10: 76,420,517 (GRCm39) |
A417V |
probably benign |
Het |
Gak |
A |
G |
5: 108,730,584 (GRCm39) |
S941P |
probably benign |
Het |
Ganc |
A |
G |
2: 120,286,528 (GRCm39) |
T786A |
probably benign |
Het |
Gfi1 |
A |
C |
5: 107,868,009 (GRCm39) |
S420A |
probably damaging |
Het |
Ghsr |
A |
T |
3: 27,426,510 (GRCm39) |
T189S |
possibly damaging |
Het |
Glb1l |
C |
T |
1: 75,185,019 (GRCm39) |
G122D |
probably damaging |
Het |
Gm10065 |
C |
T |
13: 21,663,421 (GRCm39) |
S64N |
unknown |
Het |
Gm5087 |
C |
A |
14: 13,158,749 (GRCm38) |
|
noncoding transcript |
Het |
Gm973 |
G |
A |
1: 59,580,633 (GRCm39) |
|
probably null |
Het |
Gm9930 |
A |
T |
10: 9,410,449 (GRCm39) |
|
noncoding transcript |
Het |
H6pd |
A |
T |
4: 150,066,044 (GRCm39) |
Y781N |
probably damaging |
Het |
Ide |
G |
A |
19: 37,262,631 (GRCm39) |
L695F |
unknown |
Het |
Il17re |
T |
A |
6: 113,445,868 (GRCm39) |
V393E |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,759,621 (GRCm39) |
V205A |
probably benign |
Het |
Lipo5 |
C |
T |
19: 33,446,251 (GRCm39) |
E49K |
probably damaging |
Het |
Lonp1 |
A |
T |
17: 56,927,335 (GRCm39) |
M306K |
possibly damaging |
Het |
Lrig1 |
A |
G |
6: 94,640,959 (GRCm39) |
L82P |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,366,332 (GRCm39) |
C256S |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,568,935 (GRCm39) |
I1262K |
unknown |
Het |
Mctp1 |
C |
T |
13: 76,975,894 (GRCm39) |
P756S |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,707,459 (GRCm39) |
W1583R |
probably damaging |
Het |
Mis12 |
T |
A |
11: 70,916,473 (GRCm39) |
Y169N |
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Msh5 |
G |
A |
17: 35,257,396 (GRCm39) |
Q333* |
probably null |
Het |
Necap2 |
A |
T |
4: 140,799,834 (GRCm39) |
|
probably null |
Het |
Nfatc2 |
T |
C |
2: 168,412,992 (GRCm39) |
D211G |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,164,726 (GRCm39) |
V906A |
possibly damaging |
Het |
Or2ak7 |
G |
A |
11: 58,575,589 (GRCm39) |
V297I |
probably damaging |
Het |
Or4a2 |
T |
A |
2: 89,248,116 (GRCm39) |
I214F |
probably benign |
Het |
Or4l1 |
A |
T |
14: 50,166,515 (GRCm39) |
L162* |
probably null |
Het |
Or5b125-ps1 |
A |
T |
19: 13,056,620 (GRCm39) |
|
noncoding transcript |
Het |
Or8g24 |
A |
G |
9: 38,989,555 (GRCm39) |
F162S |
probably benign |
Het |
Pate5 |
A |
G |
9: 35,750,732 (GRCm39) |
V30A |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,397,287 (GRCm39) |
N2057K |
possibly damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,639,474 (GRCm39) |
K1078R |
possibly damaging |
Het |
Prdm11 |
A |
G |
2: 92,810,954 (GRCm39) |
I215T |
probably damaging |
Het |
Ptpn13 |
C |
T |
5: 103,735,912 (GRCm39) |
P2137L |
probably benign |
Het |
Rif1 |
T |
A |
2: 51,974,998 (GRCm39) |
|
probably null |
Het |
Rnf17 |
T |
C |
14: 56,759,848 (GRCm39) |
V1551A |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,271,183 (GRCm39) |
V391I |
probably benign |
Het |
Rps6ka2 |
A |
T |
17: 7,560,188 (GRCm39) |
D542V |
probably damaging |
Het |
Sema4g |
A |
G |
19: 44,985,010 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
T |
G |
13: 33,850,366 (GRCm39) |
S64R |
probably benign |
Het |
Serpine1 |
C |
T |
5: 137,098,205 (GRCm39) |
R156K |
probably benign |
Het |
Setdb2 |
A |
G |
14: 59,639,752 (GRCm39) |
I713T |
possibly damaging |
Het |
Slamf7 |
A |
G |
1: 171,466,693 (GRCm39) |
F171L |
probably benign |
Het |
Slc15a5 |
A |
G |
6: 138,050,064 (GRCm39) |
L117S |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,361,473 (GRCm39) |
T449S |
probably benign |
Het |
Slc8a3 |
T |
A |
12: 81,362,760 (GRCm39) |
T20S |
probably damaging |
Het |
Smc2 |
G |
A |
4: 52,462,926 (GRCm39) |
V639M |
possibly damaging |
Het |
Sra1 |
A |
T |
18: 36,809,494 (GRCm39) |
C223* |
probably null |
Het |
Stk-ps2 |
A |
T |
1: 46,068,602 (GRCm39) |
|
noncoding transcript |
Het |
Taar6 |
A |
T |
10: 23,861,106 (GRCm39) |
S147T |
probably benign |
Het |
Taf15 |
G |
A |
11: 83,375,637 (GRCm39) |
G34D |
possibly damaging |
Het |
Tarbp1 |
T |
C |
8: 127,174,184 (GRCm39) |
E874G |
possibly damaging |
Het |
Tob2 |
T |
C |
15: 81,735,924 (GRCm39) |
Y15C |
probably damaging |
Het |
Trim12a |
A |
G |
7: 103,953,565 (GRCm39) |
V182A |
possibly damaging |
Het |
Trim67 |
A |
G |
8: 125,521,406 (GRCm39) |
E256G |
probably benign |
Het |
Trrap |
T |
A |
5: 144,742,530 (GRCm39) |
S1382T |
possibly damaging |
Het |
Ttc39d |
T |
A |
17: 80,523,462 (GRCm39) |
S40R |
probably benign |
Het |
Ttn |
A |
T |
2: 76,779,406 (GRCm39) |
V1158E |
probably benign |
Het |
Vmn1r19 |
C |
T |
6: 57,381,927 (GRCm39) |
T160I |
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,752,300 (GRCm39) |
I781T |
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,261,113 (GRCm39) |
E408G |
probably damaging |
Het |
Vwde |
T |
C |
6: 13,187,138 (GRCm39) |
D783G |
probably damaging |
Het |
Wdr27 |
A |
T |
17: 15,096,395 (GRCm39) |
D796E |
probably damaging |
Het |
Zfp365 |
C |
T |
10: 67,725,821 (GRCm39) |
|
probably null |
Het |
Zfp9 |
T |
G |
6: 118,441,408 (GRCm39) |
H418P |
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 |
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'- AGGAAGGTTGTGGATCACCC -3'
(R):5'- GAACTCCGTGAACTCGAGAG -3'
Sequencing Primer
(F):5'- GGATCACCCACTCTTGCCAC -3'
(R):5'- TGAACTCGAGAGGCAGAGCAC -3'
|
Posted On |
2016-04-27 |