Incidental Mutation 'R1816:Srgap1'
ID |
204434 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap1
|
Ensembl Gene |
ENSMUSG00000020121 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 1 |
Synonyms |
Arhgap13, 4930572H05Rik |
MMRRC Submission |
039844-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R1816 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121616896-121883220 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 121761876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 91
(Q91*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020322]
[ENSMUST00000081688]
|
AlphaFold |
Q91Z69 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020322
AA Change: Q91*
|
SMART Domains |
Protein: ENSMUSP00000020322 Gene: ENSMUSG00000020121 AA Change: Q91*
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 null
Transcript: ENSMUST00000081688
AA Change: Q91*
|
SMART Domains |
Protein: ENSMUSP00000080389 Gene: ENSMUSG00000020121 AA Change: Q91*
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
|
Meta Mutation Damage Score |
0.9754 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.9%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,644,222 (GRCm39) |
Y721* |
probably null |
Het |
4933405L10Rik |
T |
A |
8: 106,436,491 (GRCm39) |
V220E |
possibly damaging |
Het |
4933434E20Rik |
T |
C |
3: 89,960,398 (GRCm39) |
V13A |
possibly damaging |
Het |
Adam1b |
T |
G |
5: 121,639,788 (GRCm39) |
Q419P |
probably damaging |
Het |
Ankib1 |
A |
G |
5: 3,784,028 (GRCm39) |
V316A |
probably benign |
Het |
Anks1 |
T |
A |
17: 28,205,547 (GRCm39) |
D294E |
probably damaging |
Het |
Atr |
T |
C |
9: 95,748,747 (GRCm39) |
S431P |
probably benign |
Het |
Bfsp1 |
C |
T |
2: 143,683,599 (GRCm39) |
A242T |
probably benign |
Het |
Bptf |
A |
T |
11: 106,951,405 (GRCm39) |
V279E |
probably damaging |
Het |
Camkk2 |
A |
G |
5: 122,872,243 (GRCm39) |
L540P |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Ceacam12 |
T |
A |
7: 17,805,690 (GRCm39) |
|
probably null |
Het |
Cntnap5a |
G |
T |
1: 116,356,618 (GRCm39) |
A823S |
probably benign |
Het |
Cp |
T |
C |
3: 20,022,384 (GRCm39) |
|
probably benign |
Het |
Dhx58 |
A |
G |
11: 100,593,978 (GRCm39) |
V163A |
probably damaging |
Het |
Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
Disp1 |
T |
A |
1: 182,880,139 (GRCm39) |
D288V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,670,901 (GRCm39) |
|
probably benign |
Het |
Eaf2 |
T |
G |
16: 36,628,371 (GRCm39) |
|
probably benign |
Het |
Efna1 |
T |
C |
3: 89,183,694 (GRCm39) |
N44S |
possibly damaging |
Het |
Etnppl |
T |
C |
3: 130,428,211 (GRCm39) |
I462T |
probably benign |
Het |
Fam83d |
G |
T |
2: 158,610,070 (GRCm39) |
A13S |
possibly damaging |
Het |
Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
Fstl1 |
A |
G |
16: 37,647,086 (GRCm39) |
|
probably null |
Het |
Gm14226 |
A |
T |
2: 154,867,549 (GRCm39) |
D502V |
probably damaging |
Het |
Gm5117 |
T |
A |
8: 32,228,986 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
A |
G |
1: 59,621,558 (GRCm39) |
N566S |
probably damaging |
Het |
Grm7 |
A |
T |
6: 111,472,752 (GRCm39) |
K16* |
probably null |
Het |
Hbb-bh2 |
G |
A |
7: 103,489,585 (GRCm39) |
T17I |
possibly damaging |
Het |
Htt |
C |
T |
5: 34,961,084 (GRCm39) |
A237V |
probably benign |
Het |
Itga6 |
T |
C |
2: 71,671,153 (GRCm39) |
V665A |
probably benign |
Het |
Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,309,116 (GRCm39) |
D445G |
possibly damaging |
Het |
Myo10 |
T |
C |
15: 25,800,286 (GRCm39) |
V1454A |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
Odam |
A |
G |
5: 88,037,329 (GRCm39) |
|
probably null |
Het |
Or1e33 |
T |
C |
11: 73,738,025 (GRCm39) |
K309E |
probably benign |
Het |
Or2ag13 |
A |
T |
7: 106,472,695 (GRCm39) |
Y252* |
probably null |
Het |
Or4p18 |
T |
G |
2: 88,232,943 (GRCm39) |
I112L |
possibly damaging |
Het |
Or5g29 |
G |
T |
2: 85,421,269 (GRCm39) |
K128N |
probably benign |
Het |
Or5p80 |
T |
C |
7: 108,229,364 (GRCm39) |
L55P |
probably damaging |
Het |
Or8k33 |
A |
T |
2: 86,384,011 (GRCm39) |
C152* |
probably null |
Het |
Pcm1 |
T |
A |
8: 41,762,574 (GRCm39) |
S1412T |
probably damaging |
Het |
Pgap1 |
A |
G |
1: 54,531,216 (GRCm39) |
L753P |
probably damaging |
Het |
Pi4k2b |
T |
C |
5: 52,908,088 (GRCm39) |
S153P |
probably damaging |
Het |
Pik3c2b |
C |
T |
1: 133,029,108 (GRCm39) |
A1398V |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,391,635 (GRCm39) |
I1567T |
possibly damaging |
Het |
Rapgef6 |
G |
A |
11: 54,585,314 (GRCm39) |
V1571I |
probably benign |
Het |
Rfx2 |
C |
A |
17: 57,115,305 (GRCm39) |
E5* |
probably null |
Het |
Sh3tc1 |
C |
A |
5: 35,857,928 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
G |
A |
19: 6,592,683 (GRCm39) |
Q20* |
probably null |
Het |
Slc4a1 |
A |
G |
11: 102,242,056 (GRCm39) |
C861R |
probably damaging |
Het |
Snrnp25 |
G |
A |
11: 32,157,565 (GRCm39) |
V48I |
probably damaging |
Het |
Spata1 |
G |
T |
3: 146,186,962 (GRCm39) |
P211Q |
probably damaging |
Het |
Stab1 |
T |
C |
14: 30,879,422 (GRCm39) |
D686G |
probably benign |
Het |
Stx8 |
T |
A |
11: 67,902,152 (GRCm39) |
M112K |
possibly damaging |
Het |
Tfap2b |
A |
T |
1: 19,279,436 (GRCm39) |
K15N |
probably damaging |
Het |
Thbs2 |
C |
A |
17: 14,890,975 (GRCm39) |
D1052Y |
probably benign |
Het |
Thbs2 |
T |
A |
17: 14,890,976 (GRCm39) |
E1051D |
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,665,700 (GRCm39) |
D74G |
probably benign |
Het |
Tlr2 |
T |
C |
3: 83,745,516 (GRCm39) |
Y189C |
probably damaging |
Het |
Tmem268 |
C |
A |
4: 63,483,947 (GRCm39) |
P55T |
possibly damaging |
Het |
Tnpo3 |
T |
C |
6: 29,557,016 (GRCm39) |
H745R |
probably benign |
Het |
Trappc14 |
A |
G |
5: 138,258,603 (GRCm39) |
V548A |
possibly damaging |
Het |
Ube2s |
T |
C |
7: 4,814,554 (GRCm39) |
N2S |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,935,697 (GRCm39) |
Y39H |
probably damaging |
Het |
Vmn1r49 |
G |
T |
6: 90,049,785 (GRCm39) |
D72E |
possibly damaging |
Het |
Vmn2r27 |
C |
A |
6: 124,207,330 (GRCm39) |
G104* |
probably null |
Het |
Vmn2r92 |
A |
G |
17: 18,386,939 (GRCm39) |
I93V |
probably damaging |
Het |
Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
Zfp958 |
A |
T |
8: 4,679,147 (GRCm39) |
I391F |
possibly 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 |
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 |
|
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'- CTATCTGGAAGCACACCATGGC -3'
(R):5'- CCTGATAAGTTGCAGGATCCC -3'
Sequencing Primer
(F):5'- GCAGGGTGTATGGAGTCTACC -3'
(R):5'- TGTAGCGTGCCCTGATCTAAGAAAC -3'
|
Posted On |
2014-06-23 |