Incidental Mutation 'R6897:Srgap1'
ID |
538405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
044991-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R6897 (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 A
at 121621523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 990
(H990L)
|
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 damaging
Transcript: ENSMUST00000020322
AA Change: H990L
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: H990L
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 |
possibly damaging
Transcript: ENSMUST00000081688
AA Change: H1013L
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: H1013L
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 |
|
Meta Mutation Damage Score |
0.0801 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
97% (72/74) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
C |
3: 137,889,534 (GRCm39) |
I28V |
possibly damaging |
Het |
Adamts2 |
A |
T |
11: 50,627,991 (GRCm39) |
|
probably null |
Het |
Adgrg1 |
T |
C |
8: 95,729,126 (GRCm39) |
F17L |
probably benign |
Het |
Aldob |
A |
G |
4: 49,539,789 (GRCm39) |
L183P |
probably damaging |
Het |
Alg5 |
T |
C |
3: 54,656,063 (GRCm39) |
C270R |
probably benign |
Het |
Anxa4 |
T |
A |
6: 86,720,160 (GRCm39) |
|
probably null |
Het |
Armc2 |
C |
A |
10: 41,869,225 (GRCm39) |
|
probably null |
Het |
Atrnl1 |
A |
G |
19: 58,030,800 (GRCm39) |
N1314S |
probably benign |
Het |
Bbs7 |
T |
A |
3: 36,652,460 (GRCm39) |
E331V |
probably benign |
Het |
Bmper |
T |
A |
9: 23,285,225 (GRCm39) |
V258E |
probably benign |
Het |
Catspere2 |
A |
T |
1: 177,939,139 (GRCm39) |
I671F |
possibly damaging |
Het |
Cd101 |
A |
G |
3: 100,920,376 (GRCm39) |
S508P |
probably damaging |
Het |
Cd177 |
C |
T |
7: 24,444,499 (GRCm39) |
R694H |
probably benign |
Het |
Clptm1 |
C |
A |
7: 19,369,751 (GRCm39) |
Q386H |
possibly damaging |
Het |
Cnrip1 |
A |
G |
11: 17,004,705 (GRCm39) |
Y85C |
probably damaging |
Het |
Dclk2 |
A |
T |
3: 86,739,070 (GRCm39) |
F310I |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 49,984,562 (GRCm39) |
K186R |
probably null |
Het |
Dmxl1 |
C |
A |
18: 49,996,124 (GRCm39) |
Q417K |
possibly damaging |
Het |
Eloa |
T |
C |
4: 135,740,220 (GRCm39) |
D67G |
possibly damaging |
Het |
Elovl4 |
T |
C |
9: 83,665,278 (GRCm39) |
I103V |
probably benign |
Het |
Gabpa |
C |
G |
16: 84,657,361 (GRCm39) |
A412G |
probably benign |
Het |
Gldn |
T |
A |
9: 54,242,158 (GRCm39) |
|
probably null |
Het |
Ino80d |
A |
T |
1: 63,104,993 (GRCm39) |
I361N |
probably damaging |
Het |
Kalrn |
G |
A |
16: 33,796,073 (GRCm39) |
T1234M |
probably damaging |
Het |
Kcnk13 |
T |
A |
12: 100,028,026 (GRCm39) |
M367K |
probably benign |
Het |
Klrd1 |
G |
A |
6: 129,570,468 (GRCm39) |
R8Q |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,758,942 (GRCm39) |
N969S |
probably benign |
Het |
Lgi4 |
A |
G |
7: 30,768,315 (GRCm39) |
D438G |
probably benign |
Het |
Lig1 |
T |
C |
7: 13,039,840 (GRCm39) |
L684P |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,340,846 (GRCm39) |
M1010V |
probably benign |
Het |
Magi3 |
C |
A |
3: 103,996,873 (GRCm39) |
R224I |
probably damaging |
Het |
Mier2 |
T |
C |
10: 79,380,573 (GRCm39) |
N277S |
probably damaging |
Het |
Morn1 |
A |
G |
4: 155,171,112 (GRCm39) |
H17R |
probably benign |
Het |
Nf2 |
A |
T |
11: 4,749,878 (GRCm39) |
S265T |
probably damaging |
Het |
Or5m11b |
A |
G |
2: 85,805,700 (GRCm39) |
T38A |
possibly damaging |
Het |
Or8k24 |
G |
A |
2: 86,216,024 (GRCm39) |
T246I |
possibly damaging |
Het |
Palb2 |
A |
G |
7: 121,726,270 (GRCm39) |
|
probably null |
Het |
Pdzd2 |
C |
T |
15: 12,385,951 (GRCm39) |
V940M |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,598,138 (GRCm39) |
K850E |
probably damaging |
Het |
Pitx1 |
G |
A |
13: 55,976,335 (GRCm39) |
T108M |
probably damaging |
Het |
Polr2a |
C |
T |
11: 69,626,787 (GRCm39) |
A1516T |
probably benign |
Het |
Pomp |
T |
A |
5: 147,812,313 (GRCm39) |
M133K |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,423,913 (GRCm39) |
E993G |
probably damaging |
Het |
Prrc2c |
C |
A |
1: 162,533,075 (GRCm39) |
|
probably benign |
Het |
Pwp2 |
C |
A |
10: 78,007,917 (GRCm39) |
Q879H |
probably damaging |
Het |
Rab26 |
G |
A |
17: 24,748,766 (GRCm39) |
T245I |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,592,514 (GRCm39) |
D502G |
probably damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sema5a |
T |
A |
15: 32,550,421 (GRCm39) |
D153E |
probably benign |
Het |
Sez6 |
C |
G |
11: 77,844,385 (GRCm39) |
H69Q |
probably damaging |
Het |
Sgsm3 |
A |
T |
15: 80,893,095 (GRCm39) |
T391S |
probably benign |
Het |
Sh3rf2 |
T |
C |
18: 42,234,670 (GRCm39) |
V151A |
possibly damaging |
Het |
Socs1 |
G |
T |
16: 10,602,266 (GRCm39) |
A157E |
probably benign |
Het |
Spmip4 |
T |
A |
6: 50,566,145 (GRCm39) |
Q110L |
possibly damaging |
Het |
Sptbn4 |
C |
A |
7: 27,071,375 (GRCm39) |
V346L |
possibly damaging |
Het |
Tbc1d9 |
G |
T |
8: 83,892,809 (GRCm39) |
G36W |
probably damaging |
Het |
Tbk1 |
T |
C |
10: 121,395,782 (GRCm39) |
E437G |
probably benign |
Het |
Tns3 |
A |
G |
11: 8,481,743 (GRCm39) |
L203P |
probably damaging |
Het |
Tspoap1 |
A |
T |
11: 87,656,638 (GRCm39) |
K283M |
probably damaging |
Het |
Ttyh1 |
C |
T |
7: 4,127,649 (GRCm39) |
|
probably benign |
Het |
Ufd1 |
T |
A |
16: 18,645,850 (GRCm39) |
I254N |
probably benign |
Het |
Ugdh |
T |
G |
5: 65,584,776 (GRCm39) |
T49P |
probably benign |
Het |
Vav3 |
T |
C |
3: 109,434,810 (GRCm39) |
L447P |
probably damaging |
Het |
Vmn1r216 |
A |
T |
13: 23,283,445 (GRCm39) |
K43* |
probably null |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,306,015 (GRCm39) |
I521T |
possibly damaging |
Het |
Wdfy3 |
T |
C |
5: 101,991,932 (GRCm39) |
T3470A |
probably benign |
Het |
Wdhd1 |
T |
A |
14: 47,485,587 (GRCm39) |
K791N |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,338,911 (GRCm39) |
D384G |
probably damaging |
Het |
Zfp512b |
C |
T |
2: 181,232,273 (GRCm39) |
R86Q |
probably damaging |
Het |
Zfp735 |
A |
C |
11: 73,601,880 (GRCm39) |
I275L |
probably benign |
Het |
Zfp957 |
A |
T |
14: 79,451,344 (GRCm39) |
S152T |
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 |
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 |
|
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'- AAGACTTGTCTGTGGGACCC -3'
(R):5'- ACCCTGTGGACAGACTGTAAAG -3'
Sequencing Primer
(F):5'- TCTGTGGGACCCTGGGAAG -3'
(R):5'- CCTGTGGACAGACTGTAAAGTTCAAG -3'
|
Posted On |
2018-11-06 |