Incidental Mutation 'R5687:Srgap1'
ID |
499925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
043320-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R5687 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121661541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 533
(Y533C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
[ENSMUST00000161156]
|
AlphaFold |
Q91Z69 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020322
AA Change: Y510C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: Y510C
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 damaging
Transcript: ENSMUST00000081688
AA Change: Y533C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: Y533C
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 |
probably benign
Transcript: ENSMUST00000161156
|
SMART Domains |
Protein: ENSMUSP00000125109 Gene: ENSMUSG00000020121
Domain | Start | End | E-Value | Type |
Pfam:RhoGAP
|
1 |
68 |
2.6e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218664
|
Meta Mutation Damage Score |
0.3487 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (72/73) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
A |
15: 94,223,852 (GRCm39) |
D1292V |
probably benign |
Het |
Adcy2 |
A |
T |
13: 68,768,938 (GRCm39) |
C1063* |
probably null |
Het |
Adcy2 |
A |
T |
13: 68,790,688 (GRCm39) |
V892D |
probably damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,648,329 (GRCm39) |
D497G |
probably benign |
Het |
Anks1b |
A |
C |
10: 90,750,573 (GRCm39) |
I195L |
probably benign |
Het |
Asmt |
G |
T |
X: 169,111,749 (GRCm39) |
S377I |
unknown |
Het |
C1s1 |
T |
A |
6: 124,517,909 (GRCm39) |
T24S |
probably benign |
Het |
Ccdc85a |
A |
T |
11: 28,342,854 (GRCm39) |
|
probably benign |
Het |
Ccndbp1 |
T |
C |
2: 120,845,183 (GRCm39) |
|
probably benign |
Het |
Cct8 |
T |
C |
16: 87,285,709 (GRCm39) |
I250V |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,234,684 (GRCm39) |
T135A |
possibly damaging |
Het |
Col11a1 |
T |
C |
3: 114,010,752 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,379,529 (GRCm39) |
M575T |
probably benign |
Het |
Dmp1 |
C |
T |
5: 104,354,952 (GRCm39) |
|
probably benign |
Het |
Emc1 |
G |
T |
4: 139,102,691 (GRCm39) |
R950L |
probably damaging |
Het |
Enpep |
T |
C |
3: 129,092,743 (GRCm39) |
|
probably null |
Het |
Eya1 |
G |
A |
1: 14,253,476 (GRCm39) |
T500I |
probably damaging |
Het |
Fam169a |
T |
C |
13: 97,230,126 (GRCm39) |
F54L |
probably damaging |
Het |
Fbxo8 |
A |
G |
8: 57,044,552 (GRCm39) |
K285R |
probably damaging |
Het |
Galnt1 |
A |
T |
18: 24,405,807 (GRCm39) |
E416D |
probably benign |
Het |
Gcc1 |
T |
A |
6: 28,419,232 (GRCm39) |
|
probably null |
Het |
Gm10800 |
T |
A |
2: 98,496,965 (GRCm39) |
Y196F |
probably benign |
Het |
Gmpr |
T |
A |
13: 45,692,496 (GRCm39) |
|
probably null |
Het |
Jrkl |
C |
T |
9: 13,244,387 (GRCm39) |
E425K |
probably benign |
Het |
Kl |
T |
G |
5: 150,911,931 (GRCm39) |
I560S |
possibly damaging |
Het |
Kyat3 |
C |
A |
3: 142,440,343 (GRCm39) |
R356S |
probably null |
Het |
Lrig2 |
C |
T |
3: 104,371,388 (GRCm39) |
|
probably null |
Het |
Lrrc47 |
A |
G |
4: 154,100,140 (GRCm39) |
T239A |
probably benign |
Het |
Map4k2 |
T |
C |
19: 6,395,672 (GRCm39) |
|
probably benign |
Het |
Mon2 |
A |
G |
10: 122,844,144 (GRCm39) |
S1469P |
probably damaging |
Het |
Mthfd1l |
G |
A |
10: 3,940,002 (GRCm39) |
|
probably null |
Het |
Mvk |
G |
T |
5: 114,588,826 (GRCm39) |
G144V |
probably damaging |
Het |
Nasp |
T |
A |
4: 116,463,002 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
A |
C |
3: 125,232,258 (GRCm39) |
N276H |
possibly damaging |
Het |
Nsmf |
C |
T |
2: 24,946,079 (GRCm39) |
P189S |
probably damaging |
Het |
Nt5m |
T |
G |
11: 59,743,649 (GRCm39) |
D92E |
probably benign |
Het |
Or10g6 |
T |
G |
9: 39,933,731 (GRCm39) |
L14R |
probably damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,033 (GRCm39) |
|
noncoding transcript |
Het |
Or4p23 |
A |
T |
2: 88,577,094 (GRCm39) |
I46N |
probably damaging |
Het |
Pan3 |
T |
A |
5: 147,391,982 (GRCm39) |
I119N |
probably damaging |
Het |
Pard6b |
A |
T |
2: 167,940,546 (GRCm39) |
S178C |
probably damaging |
Het |
Parl |
A |
G |
16: 20,106,728 (GRCm39) |
|
probably benign |
Het |
Pdk2 |
A |
G |
11: 94,919,851 (GRCm39) |
|
probably benign |
Het |
Prag1 |
A |
G |
8: 36,613,967 (GRCm39) |
E1173G |
probably benign |
Het |
Prph2 |
T |
A |
17: 47,234,391 (GRCm39) |
L320Q |
probably damaging |
Het |
Psmd3 |
T |
C |
11: 98,584,495 (GRCm39) |
I200T |
probably damaging |
Het |
Rhbdd3 |
T |
A |
11: 5,055,707 (GRCm39) |
S324T |
probably damaging |
Het |
Rps6-ps2 |
A |
T |
8: 89,533,112 (GRCm39) |
|
noncoding transcript |
Het |
Rps8 |
G |
C |
4: 117,012,352 (GRCm39) |
|
probably benign |
Het |
Samd4 |
A |
G |
14: 47,254,022 (GRCm39) |
N61S |
probably benign |
Het |
Sfrp2 |
G |
A |
3: 83,674,146 (GRCm39) |
A100T |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,279,700 (GRCm39) |
T25A |
probably benign |
Het |
Sntg1 |
C |
A |
1: 8,533,667 (GRCm39) |
R329L |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,228,669 (GRCm39) |
F285L |
probably damaging |
Het |
Speg |
T |
C |
1: 75,395,773 (GRCm39) |
|
probably null |
Het |
Supt5 |
C |
A |
7: 28,017,188 (GRCm39) |
S668I |
probably benign |
Het |
Taf6l |
T |
G |
19: 8,750,676 (GRCm39) |
I133L |
probably benign |
Het |
Thrap3 |
G |
A |
4: 126,074,279 (GRCm39) |
|
probably benign |
Het |
Tmem115 |
A |
G |
9: 107,412,054 (GRCm39) |
N126S |
probably benign |
Het |
Trgc1 |
A |
T |
13: 19,400,729 (GRCm39) |
I153F |
unknown |
Het |
Tspoap1 |
T |
A |
11: 87,667,952 (GRCm39) |
I1192N |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,826,253 (GRCm39) |
I3184V |
probably damaging |
Het |
Yeats4 |
G |
A |
10: 117,051,585 (GRCm39) |
T224M |
probably benign |
Het |
Zc3h13 |
A |
T |
14: 75,569,400 (GRCm39) |
R1416* |
probably null |
Het |
Zmynd12 |
T |
A |
4: 119,299,098 (GRCm39) |
Y193N |
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 |
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'- GACACTCTGAAAATCCCCTGG -3'
(R):5'- ACCACCTGGAGCCTTCTTATG -3'
Sequencing Primer
(F):5'- TCTGAAAATCCCCTGGTGCTGAAG -3'
(R):5'- CACCTGGAGCCTTCTTATGGTAAATG -3'
|
Posted On |
2017-11-28 |