Incidental Mutation 'R5402:Srgap1'
| ID |
430053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap1
|
| Ensembl Gene |
ENSMUSG00000020121 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
| Synonyms |
Arhgap13, 4930572H05Rik |
| MMRRC Submission |
042973-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R5402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121621665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 966
(M966V)
|
| 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: M943V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: M943V
| 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: M966V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: M966V
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,607,834 (GRCm39) |
D4079E |
probably benign |
Het |
| Bcar1 |
T |
C |
8: 112,440,962 (GRCm39) |
D344G |
probably damaging |
Het |
| Car9 |
A |
G |
4: 43,510,213 (GRCm39) |
N265S |
probably damaging |
Het |
| Ccr7 |
A |
G |
11: 99,036,560 (GRCm39) |
S121P |
possibly damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,536,603 (GRCm39) |
L1278P |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,585,872 (GRCm39) |
S230R |
probably damaging |
Het |
| Cped1 |
G |
A |
6: 22,143,951 (GRCm39) |
V566M |
probably benign |
Het |
| Csf2 |
A |
T |
11: 54,138,489 (GRCm39) |
Y117* |
probably null |
Het |
| Cwf19l1 |
C |
T |
19: 44,121,524 (GRCm39) |
|
probably null |
Het |
| Cyp2d34 |
C |
T |
15: 82,503,287 (GRCm39) |
G69D |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,114,949 (GRCm39) |
V170E |
probably damaging |
Het |
| Ehbp1l1 |
T |
A |
19: 5,766,348 (GRCm39) |
T388S |
possibly damaging |
Het |
| Etfa |
T |
C |
9: 55,362,023 (GRCm39) |
I329M |
probably benign |
Het |
| Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
G |
A |
2: 53,018,794 (GRCm39) |
V1078I |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,388,250 (GRCm39) |
L797P |
possibly damaging |
Het |
| Gmeb2 |
A |
T |
2: 180,897,750 (GRCm39) |
|
probably null |
Het |
| Greb1l |
A |
G |
18: 10,537,169 (GRCm39) |
T1045A |
probably benign |
Het |
| Hapln1 |
A |
G |
13: 89,753,530 (GRCm39) |
N232S |
probably benign |
Het |
| Hibadh |
A |
T |
6: 52,523,965 (GRCm39) |
M311K |
probably benign |
Het |
| Hus1 |
C |
T |
11: 8,960,240 (GRCm39) |
|
probably null |
Het |
| Il31ra |
T |
C |
13: 112,660,669 (GRCm39) |
E640G |
probably benign |
Het |
| L3mbtl4 |
T |
C |
17: 68,762,769 (GRCm39) |
F101L |
probably damaging |
Het |
| Lbr |
A |
T |
1: 181,647,526 (GRCm39) |
M417K |
probably benign |
Het |
| Lrig3 |
T |
G |
10: 125,844,609 (GRCm39) |
L691R |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,319,148 (GRCm39) |
F792Y |
probably benign |
Het |
| Mst1 |
T |
C |
9: 107,961,408 (GRCm39) |
|
probably null |
Het |
| Nova2 |
C |
A |
7: 18,692,371 (GRCm39) |
T500K |
probably damaging |
Het |
| Nxph4 |
A |
T |
10: 127,362,133 (GRCm39) |
C253S |
probably damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,878 (GRCm38) |
Y256H |
probably damaging |
Het |
| Or4s2b |
T |
A |
2: 88,508,492 (GRCm39) |
S98T |
possibly damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,747 (GRCm39) |
R400Q |
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,018,507 (GRCm39) |
A915S |
probably damaging |
Het |
| Plat |
T |
G |
8: 23,262,738 (GRCm39) |
W148G |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Pramel27 |
G |
A |
4: 143,578,225 (GRCm39) |
|
probably null |
Het |
| Ptdss1 |
A |
G |
13: 67,081,663 (GRCm39) |
D31G |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,825,236 (GRCm39) |
D64G |
probably damaging |
Het |
| Scgb1b20 |
A |
G |
7: 33,072,656 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc25a23 |
T |
C |
17: 57,360,336 (GRCm39) |
I269V |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,556,331 (GRCm39) |
S141T |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,106,213 (GRCm39) |
V5526E |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,568,860 (GRCm39) |
S596P |
probably benign |
Het |
| Tg |
T |
A |
15: 66,611,017 (GRCm39) |
I356N |
probably damaging |
Het |
| Ttc6 |
C |
T |
12: 57,783,817 (GRCm39) |
R1759* |
probably null |
Het |
| Wdsub1 |
T |
C |
2: 59,700,822 (GRCm39) |
N138D |
probably benign |
Het |
| Zfp1001 |
A |
G |
2: 150,204,886 (GRCm39) |
I67V |
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 |
|
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 |
|
|
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'- GAAAGTACTCATTGTCTCGCTGG -3'
(R):5'- CCATGTGCGTTGCTTCTAAG -3'
Sequencing Primer
(F):5'- ACTCATTGTCTCGCTGGAGGAG -3'
(R):5'- GTCTCCAGATCATTTAGAGTCAACC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation