Incidental Mutation 'R6240:Srgap1'
ID |
505186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
044364-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R6240 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121883061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 13
(I13T)
|
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: I13T
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: I13T
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: I13T
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: I13T
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (62/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
C |
A |
14: 64,223,701 (GRCm39) |
R25L |
probably damaging |
Het |
Adamts1 |
G |
A |
16: 85,599,045 (GRCm39) |
S185L |
probably benign |
Het |
Adamts12 |
A |
T |
15: 11,286,044 (GRCm39) |
D751V |
probably benign |
Het |
Adgrg3 |
A |
G |
8: 95,766,544 (GRCm39) |
D405G |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,852,980 (GRCm39) |
D516G |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,990,947 (GRCm39) |
D4077V |
probably damaging |
Het |
Arhgef18 |
G |
A |
8: 3,489,658 (GRCm39) |
R330Q |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,407,997 (GRCm39) |
V2170A |
unknown |
Het |
Asxl3 |
C |
T |
18: 22,598,565 (GRCm39) |
L227F |
probably damaging |
Het |
B3glct |
A |
G |
5: 149,650,253 (GRCm39) |
I119V |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,694,640 (GRCm39) |
S1618T |
probably benign |
Het |
Cad |
T |
A |
5: 31,230,322 (GRCm39) |
M1512K |
probably benign |
Het |
Cdc25a |
A |
G |
9: 109,713,226 (GRCm39) |
T172A |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
Clmp |
A |
G |
9: 40,693,707 (GRCm39) |
N308S |
probably damaging |
Het |
Dlg5 |
A |
T |
14: 24,199,596 (GRCm39) |
|
probably null |
Het |
Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
E4f1 |
A |
G |
17: 24,663,556 (GRCm39) |
S524P |
possibly damaging |
Het |
Epha5 |
G |
C |
5: 84,265,438 (GRCm39) |
A452G |
probably benign |
Het |
Fzd3 |
T |
C |
14: 65,447,304 (GRCm39) |
T542A |
probably damaging |
Het |
Glyctk |
A |
T |
9: 106,033,461 (GRCm39) |
|
probably null |
Het |
Gm10382 |
G |
A |
5: 125,466,660 (GRCm39) |
|
probably benign |
Het |
Hnmt |
T |
A |
2: 23,904,281 (GRCm39) |
M127L |
probably benign |
Het |
Hoxc10 |
T |
A |
15: 102,879,265 (GRCm39) |
W262R |
probably damaging |
Het |
Icam5 |
T |
A |
9: 20,944,454 (GRCm39) |
W52R |
possibly damaging |
Het |
Jazf1 |
A |
T |
6: 52,754,537 (GRCm39) |
C180S |
probably damaging |
Het |
Kcnk2 |
A |
G |
1: 188,975,179 (GRCm39) |
W286R |
probably damaging |
Het |
Kcnmb2 |
C |
T |
3: 32,236,045 (GRCm39) |
S98F |
probably damaging |
Het |
Mob3a |
C |
G |
10: 80,525,698 (GRCm39) |
E204D |
possibly damaging |
Het |
Morc3 |
C |
G |
16: 93,659,572 (GRCm39) |
H459D |
probably damaging |
Het |
Mroh2b |
A |
T |
15: 4,964,126 (GRCm39) |
N876I |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,420,930 (GRCm39) |
T257S |
probably damaging |
Het |
Nat1 |
A |
T |
8: 67,944,354 (GRCm39) |
R243S |
possibly damaging |
Het |
Nudt9 |
T |
C |
5: 104,194,955 (GRCm39) |
V17A |
probably benign |
Het |
Or13p8 |
A |
G |
4: 118,583,668 (GRCm39) |
S75G |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,843,970 (GRCm39) |
I146T |
probably benign |
Het |
Or4c11c |
A |
G |
2: 88,661,707 (GRCm39) |
D82G |
probably benign |
Het |
Or4m1 |
A |
G |
14: 50,558,043 (GRCm39) |
V83A |
probably benign |
Het |
Or6c70 |
C |
A |
10: 129,710,546 (GRCm39) |
V27L |
probably benign |
Het |
Pcdh7 |
T |
C |
5: 57,878,704 (GRCm39) |
L753P |
probably damaging |
Het |
Pcf11 |
T |
A |
7: 92,295,710 (GRCm39) |
E1446D |
probably damaging |
Het |
Pepd |
A |
G |
7: 34,721,176 (GRCm39) |
I267V |
probably benign |
Het |
Plk2 |
T |
A |
13: 110,536,008 (GRCm39) |
Y571N |
probably damaging |
Het |
Plk2 |
T |
A |
13: 110,536,568 (GRCm39) |
V620E |
probably damaging |
Het |
Prag1 |
T |
C |
8: 36,570,506 (GRCm39) |
L363P |
probably benign |
Het |
Psmd3 |
A |
G |
11: 98,584,479 (GRCm39) |
T387A |
probably damaging |
Het |
Ptgs1 |
G |
A |
2: 36,127,297 (GRCm39) |
C61Y |
probably damaging |
Het |
Rab18 |
T |
C |
18: 6,784,635 (GRCm39) |
Y109H |
probably benign |
Het |
Robo2 |
G |
A |
16: 73,779,027 (GRCm39) |
P358L |
probably damaging |
Het |
Smarcc2 |
C |
T |
10: 128,323,893 (GRCm39) |
|
probably benign |
Het |
Spata31e4 |
G |
A |
13: 50,855,453 (GRCm39) |
D364N |
probably damaging |
Het |
Tcf12 |
T |
A |
9: 71,851,298 (GRCm39) |
K110* |
probably null |
Het |
Tdrd1 |
T |
C |
19: 56,829,767 (GRCm39) |
S214P |
probably benign |
Het |
Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
Tmem255b |
A |
G |
8: 13,504,216 (GRCm39) |
Y136C |
probably damaging |
Het |
Tmem63c |
A |
T |
12: 87,123,179 (GRCm39) |
I448F |
possibly damaging |
Het |
Tnpo1 |
T |
C |
13: 99,000,337 (GRCm39) |
I335M |
probably damaging |
Het |
Vmn1r1 |
T |
C |
1: 181,985,186 (GRCm39) |
T160A |
probably damaging |
Het |
Vmn1r203 |
A |
G |
13: 22,708,899 (GRCm39) |
N227D |
possibly damaging |
Het |
Vmn2r6 |
T |
A |
3: 64,464,226 (GRCm39) |
S203C |
probably damaging |
Het |
Zfp628 |
A |
G |
7: 4,922,848 (GRCm39) |
T357A |
possibly damaging |
Het |
Zfp872 |
A |
G |
9: 22,111,180 (GRCm39) |
K220E |
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 |
|
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'- TTAGGACTGGCTTAGAGGACG -3'
(R):5'- TCTCAACAATGGTGCGCGAC -3'
Sequencing Primer
(F):5'- TGGCTTAGAGGACGCCCTG -3'
(R):5'- AGTTTGCTCGGCTGGCCTC -3'
|
Posted On |
2018-02-28 |