Incidental Mutation 'R4781:Srgap3'
| ID |
366491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| MMRRC Submission |
042415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R4781 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 112734386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088373]
[ENSMUST00000113169]
[ENSMUST00000131835]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088373
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
22 |
120 |
3.81e-16 |
SMART |
|
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
RhoGAP
|
517 |
691 |
7.43e-66 |
SMART |
|
SH3
|
747 |
802 |
9.69e-15 |
SMART |
|
coiled coil region
|
955 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1053 |
1064 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113169
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
22 |
120 |
3.81e-16 |
SMART |
|
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
392 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
434 |
474 |
4e-11 |
BLAST |
|
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
|
RhoGAP
|
493 |
667 |
7.43e-66 |
SMART |
|
SH3
|
723 |
778 |
9.69e-15 |
SMART |
|
coiled coil region
|
931 |
961 |
N/A |
INTRINSIC |
|
low complexity region
|
1001 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1029 |
1040 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131835
AA Change: I35N
|
| SMART Domains |
Protein: ENSMUSP00000130063
Gene: ENSMUSG00000030257
AA Change: I35N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
1 |
33 |
2e-14 |
BLAST |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (74/74) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in spine density in the brain CA1 and cortical layers IV/V. Mice homozygous for a different knock-out allele exhibit a neurodevelopment disorder with schizophrenia-related intermediate phenotypes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
A |
7: 27,271,076 (GRCm39) |
I157N |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,908,571 (GRCm39) |
Y1165H |
probably damaging |
Het |
| Adra2a |
A |
G |
19: 54,034,926 (GRCm39) |
D94G |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,558,174 (GRCm39) |
K197* |
probably null |
Het |
| Ankrd65 |
C |
T |
4: 155,877,493 (GRCm39) |
H335Y |
possibly damaging |
Het |
| Axin2 |
T |
A |
11: 108,834,682 (GRCm39) |
L636Q |
probably damaging |
Het |
| Camk1g |
G |
T |
1: 193,038,652 (GRCm39) |
T90N |
probably benign |
Het |
| Cd177 |
C |
A |
7: 24,450,051 (GRCm39) |
C528F |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,339,931 (GRCm39) |
D730V |
possibly damaging |
Het |
| Crtap |
T |
C |
9: 114,215,304 (GRCm39) |
D195G |
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,966,952 (GRCm39) |
S74G |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,464,367 (GRCm39) |
F3675L |
probably benign |
Het |
| Dram2 |
T |
A |
3: 106,478,992 (GRCm39) |
W195R |
probably damaging |
Het |
| E130308A19Rik |
C |
T |
4: 59,691,057 (GRCm39) |
P297L |
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,489,066 (GRCm39) |
S83G |
probably benign |
Het |
| Gabra1 |
G |
A |
11: 42,024,488 (GRCm39) |
P396S |
probably damaging |
Het |
| Gipr |
T |
A |
7: 18,891,300 (GRCm39) |
Y459F |
possibly damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6981 |
T |
C |
9: 51,914,056 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2d |
T |
C |
7: 45,511,905 (GRCm39) |
D180G |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,444,170 (GRCm39) |
|
probably null |
Het |
| Hhat |
T |
C |
1: 192,369,287 (GRCm39) |
|
probably benign |
Het |
| Hoxa6 |
A |
G |
6: 52,183,400 (GRCm39) |
L215P |
possibly damaging |
Het |
| Hsf4 |
G |
A |
8: 106,001,384 (GRCm39) |
|
probably null |
Het |
| Igf1r |
G |
A |
7: 67,814,947 (GRCm39) |
A283T |
possibly damaging |
Het |
| Ighv15-2 |
A |
G |
12: 114,528,476 (GRCm39) |
S25P |
probably damaging |
Het |
| Inpp5a |
C |
T |
7: 139,057,921 (GRCm39) |
T43I |
probably benign |
Het |
| Kmt2c |
T |
A |
5: 25,648,823 (GRCm39) |
E82V |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,741,526 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,844,396 (GRCm39) |
|
probably null |
Het |
| Mefv |
G |
A |
16: 3,533,198 (GRCm39) |
P358S |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,795 (GRCm39) |
F291L |
possibly damaging |
Het |
| Mtmr3 |
A |
G |
11: 4,438,435 (GRCm39) |
L673P |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,787,360 (GRCm39) |
|
noncoding transcript |
Het |
| Myo5b |
A |
T |
18: 74,877,752 (GRCm39) |
T1584S |
possibly damaging |
Het |
| Or1x6 |
A |
T |
11: 50,939,307 (GRCm39) |
R124S |
probably damaging |
Het |
| Or4z4 |
T |
C |
19: 12,076,731 (GRCm39) |
T91A |
probably benign |
Het |
| Palld |
G |
T |
8: 62,330,062 (GRCm39) |
R272S |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,737,158 (GRCm39) |
N144Y |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,136,203 (GRCm39) |
K160E |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,122,190 (GRCm39) |
A400V |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,590,781 (GRCm39) |
Y48C |
probably damaging |
Het |
| Rpl11 |
G |
T |
4: 135,777,599 (GRCm39) |
Q170K |
probably benign |
Het |
| Scin |
G |
A |
12: 40,131,763 (GRCm39) |
A257V |
possibly damaging |
Het |
| Scn7a |
C |
A |
2: 66,534,104 (GRCm39) |
A524S |
possibly damaging |
Het |
| Sim1 |
T |
C |
10: 50,859,881 (GRCm39) |
L581S |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,051,741 (GRCm39) |
T715A |
probably benign |
Het |
| Slc22a26 |
A |
G |
19: 7,767,500 (GRCm39) |
V301A |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,171,119 (GRCm39) |
Y923C |
probably damaging |
Het |
| Src |
T |
A |
2: 157,309,405 (GRCm39) |
M304K |
possibly damaging |
Het |
| Stard3 |
G |
A |
11: 98,263,160 (GRCm39) |
E72K |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,340 (GRCm39) |
N2482I |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,038,778 (GRCm39) |
K20R |
possibly damaging |
Het |
| Tcstv4 |
A |
C |
13: 120,769,698 (GRCm39) |
K6T |
possibly damaging |
Het |
| Tfip11 |
G |
A |
5: 112,481,265 (GRCm39) |
E414K |
probably damaging |
Het |
| Tinag |
G |
T |
9: 76,904,232 (GRCm39) |
T397K |
possibly damaging |
Het |
| Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
| Trmt10b |
T |
A |
4: 45,305,817 (GRCm39) |
I164N |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
| Ube2u |
A |
T |
4: 100,343,855 (GRCm39) |
T85S |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,932,642 (GRCm39) |
D1066G |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,069 (GRCm39) |
I832F |
probably benign |
Het |
| Yipf1 |
A |
C |
4: 107,193,355 (GRCm39) |
E80D |
probably benign |
Het |
| Zfp40 |
T |
A |
17: 23,394,629 (GRCm39) |
R653W |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,349,535 (GRCm39) |
T308A |
probably damaging |
Het |
|
| Other mutations in Srgap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Srgap3
|
APN |
6 |
112,716,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01325:Srgap3
|
APN |
6 |
112,752,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Srgap3
|
APN |
6 |
112,923,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01626:Srgap3
|
APN |
6 |
112,750,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01787:Srgap3
|
APN |
6 |
112,699,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02698:Srgap3
|
APN |
6 |
112,723,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02805:Srgap3
|
APN |
6 |
112,704,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02813:Srgap3
|
APN |
6 |
112,708,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02876:Srgap3
|
APN |
6 |
112,748,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Srgap3
|
APN |
6 |
112,793,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Srgap3
|
APN |
6 |
112,752,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0007:Srgap3
|
UTSW |
6 |
112,806,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Srgap3
|
UTSW |
6 |
112,748,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0607:Srgap3
|
UTSW |
6 |
112,700,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Srgap3
|
UTSW |
6 |
112,716,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1669:Srgap3
|
UTSW |
6 |
112,699,865 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1858:Srgap3
|
UTSW |
6 |
112,748,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Srgap3
|
UTSW |
6 |
112,752,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1896:Srgap3
|
UTSW |
6 |
112,715,958 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2159:Srgap3
|
UTSW |
6 |
112,748,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2221:Srgap3
|
UTSW |
6 |
112,923,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2862:Srgap3
|
UTSW |
6 |
112,699,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3160:Srgap3
|
UTSW |
6 |
112,706,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3162:Srgap3
|
UTSW |
6 |
112,706,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4092:Srgap3
|
UTSW |
6 |
112,700,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4561:Srgap3
|
UTSW |
6 |
112,758,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4825:Srgap3
|
UTSW |
6 |
112,704,271 (GRCm39) |
missense |
probably benign |
|
|
R4887:Srgap3
|
UTSW |
6 |
112,723,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Srgap3
|
UTSW |
6 |
112,743,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Srgap3
|
UTSW |
6 |
112,716,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5672:Srgap3
|
UTSW |
6 |
112,752,522 (GRCm39) |
missense |
probably benign |
|
|
R5879:Srgap3
|
UTSW |
6 |
112,699,807 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5944:Srgap3
|
UTSW |
6 |
112,772,775 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6277:Srgap3
|
UTSW |
6 |
112,716,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6298:Srgap3
|
UTSW |
6 |
112,793,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6407:Srgap3
|
UTSW |
6 |
112,699,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6408:Srgap3
|
UTSW |
6 |
112,699,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6797:Srgap3
|
UTSW |
6 |
112,806,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Srgap3
|
UTSW |
6 |
112,793,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Srgap3
|
UTSW |
6 |
112,700,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7055:Srgap3
|
UTSW |
6 |
112,723,924 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7067:Srgap3
|
UTSW |
6 |
112,734,266 (GRCm39) |
intron |
probably benign |
|
|
R7361:Srgap3
|
UTSW |
6 |
112,723,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7479:Srgap3
|
UTSW |
6 |
112,712,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7606:Srgap3
|
UTSW |
6 |
112,716,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7731:Srgap3
|
UTSW |
6 |
112,743,858 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7787:Srgap3
|
UTSW |
6 |
112,752,520 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7934:Srgap3
|
UTSW |
6 |
112,708,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Srgap3
|
UTSW |
6 |
112,716,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8040:Srgap3
|
UTSW |
6 |
112,716,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8066:Srgap3
|
UTSW |
6 |
112,748,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8067:Srgap3
|
UTSW |
6 |
112,716,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8090:Srgap3
|
UTSW |
6 |
112,757,996 (GRCm39) |
nonsense |
probably null |
|
|
R8151:Srgap3
|
UTSW |
6 |
112,793,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Srgap3
|
UTSW |
6 |
112,700,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8365:Srgap3
|
UTSW |
6 |
112,793,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8369:Srgap3
|
UTSW |
6 |
112,699,779 (GRCm39) |
missense |
probably benign |
|
|
R8444:Srgap3
|
UTSW |
6 |
112,752,509 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8509:Srgap3
|
UTSW |
6 |
112,708,297 (GRCm39) |
nonsense |
probably null |
|
|
R8772:Srgap3
|
UTSW |
6 |
112,743,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Srgap3
|
UTSW |
6 |
112,716,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Srgap3
|
UTSW |
6 |
112,700,098 (GRCm39) |
missense |
probably benign |
|
|
R9002:Srgap3
|
UTSW |
6 |
112,757,854 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9041:Srgap3
|
UTSW |
6 |
112,754,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9198:Srgap3
|
UTSW |
6 |
112,743,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Srgap3
|
UTSW |
6 |
112,706,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9616:Srgap3
|
UTSW |
6 |
112,748,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Srgap3
|
UTSW |
6 |
112,772,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTCAGCCAAGGAAAGTG -3'
(R):5'- GGGAGATGTCACGACCTATCAG -3'
Sequencing Primer
(F):5'- GCAGCCTAAGCCTTCCATC -3'
(R):5'- GATGTCACGACCTATCAGATGCAG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation