Incidental Mutation 'R6597:Srgap1'
| ID |
524954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap1
|
| Ensembl Gene |
ENSMUSG00000020121 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
| Synonyms |
Arhgap13, 4930572H05Rik |
| MMRRC Submission |
044721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R6597 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121628276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 899
(N899D)
|
| 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: N876D
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: N876D
| 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: N899D
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: N899D
| 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 |
0.0616 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (50/50) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,625,080 (GRCm39) |
Y486C |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,550,321 (GRCm39) |
T118S |
probably damaging |
Het |
| Atl2 |
T |
A |
17: 80,160,195 (GRCm39) |
D293V |
possibly damaging |
Het |
| Bbs1 |
T |
A |
19: 4,949,334 (GRCm39) |
M242L |
probably benign |
Het |
| Btg1 |
T |
A |
10: 96,454,182 (GRCm39) |
S65T |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,834,902 (GRCm39) |
D1101G |
possibly damaging |
Het |
| Cmpk2 |
G |
T |
12: 26,524,144 (GRCm39) |
V314L |
possibly damaging |
Het |
| Fbxl8 |
A |
C |
8: 105,995,523 (GRCm39) |
D345A |
probably benign |
Het |
| Gys2 |
T |
A |
6: 142,402,035 (GRCm39) |
H268L |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,491,403 (GRCm39) |
R117* |
probably null |
Het |
| Hoxd10 |
G |
A |
2: 74,522,984 (GRCm39) |
A221T |
probably benign |
Het |
| Hspa13 |
A |
T |
16: 75,562,085 (GRCm39) |
L38Q |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,153,927 (GRCm39) |
A87E |
probably damaging |
Het |
| Ipo11 |
A |
G |
13: 107,002,371 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
A |
G |
12: 119,137,133 (GRCm39) |
V390A |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 34,003,117 (GRCm39) |
I1370F |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,276,485 (GRCm39) |
N6086S |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,170,303 (GRCm39) |
T14A |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,008 (GRCm39) |
C116S |
probably benign |
Het |
| Or55b10 |
A |
T |
7: 102,143,628 (GRCm39) |
I118N |
probably damaging |
Het |
| Or5ac22 |
C |
T |
16: 59,135,713 (GRCm39) |
R19H |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,923,413 (GRCm39) |
F289S |
probably damaging |
Het |
| Or8b47 |
A |
T |
9: 38,435,300 (GRCm39) |
I91F |
probably benign |
Het |
| Or9q1 |
T |
A |
19: 13,805,821 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
T |
A |
2: 122,016,645 (GRCm39) |
|
probably benign |
Het |
| Pcdhga7 |
T |
C |
18: 37,850,059 (GRCm39) |
S689P |
probably benign |
Het |
| Pitpnc1 |
G |
T |
11: 107,117,058 (GRCm39) |
Y227* |
probably null |
Het |
| Pla2g2e |
T |
C |
4: 138,607,984 (GRCm39) |
V22A |
unknown |
Het |
| Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,431,957 (GRCm39) |
|
probably null |
Het |
| Rabgef1 |
G |
A |
5: 130,219,885 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
T |
17: 26,059,886 (GRCm39) |
W341R |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,482,381 (GRCm39) |
W286R |
probably benign |
Het |
| Rrs1 |
A |
G |
1: 9,616,601 (GRCm39) |
T285A |
probably damaging |
Het |
| Shc3 |
T |
A |
13: 51,597,009 (GRCm39) |
D338V |
possibly damaging |
Het |
| Siglech |
A |
T |
7: 55,418,211 (GRCm39) |
M60L |
probably benign |
Het |
| Slc12a6 |
G |
T |
2: 112,183,280 (GRCm39) |
V756F |
probably damaging |
Het |
| Slc43a2 |
G |
A |
11: 75,462,681 (GRCm39) |
G507D |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,248 (GRCm39) |
S789P |
probably benign |
Het |
| Spata31d1d |
C |
A |
13: 59,873,871 (GRCm39) |
M1221I |
probably benign |
Het |
| Stag1 |
G |
A |
9: 100,769,473 (GRCm39) |
M529I |
probably benign |
Het |
| Tekt3 |
A |
G |
11: 62,972,085 (GRCm39) |
D247G |
probably benign |
Het |
| Tmppe |
A |
T |
9: 114,234,312 (GRCm39) |
M204L |
probably benign |
Het |
| Tpsg1 |
G |
A |
17: 25,588,271 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,628,315 (GRCm39) |
V6288A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,723,444 (GRCm39) |
|
probably benign |
Het |
| Twsg1 |
C |
A |
17: 66,244,799 (GRCm39) |
V73F |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,450 (GRCm39) |
T672A |
probably damaging |
Het |
| Vps36 |
A |
G |
8: 22,692,320 (GRCm39) |
I66V |
probably benign |
Het |
| Xrcc4 |
A |
T |
13: 90,149,048 (GRCm39) |
D157E |
probably benign |
Het |
| Zbbx |
T |
A |
3: 75,043,761 (GRCm39) |
Q162L |
probably damaging |
Het |
| Zfp560 |
T |
A |
9: 20,259,297 (GRCm39) |
I522L |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,539 (GRCm39) |
N984S |
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 |
|
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 |
|
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'- CACTATACCTGAGCAATCGTCTCG -3'
(R):5'- GTCATCCGGTGTCAAAAGCTC -3'
Sequencing Primer
(F):5'- AATCGTCTCGGGGTCCAGTG -3'
(R):5'- CGGTGTCAAAAGCTCTTCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation