Incidental Mutation 'IGL03342:Srgap3'
| ID |
417291 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
IGL03342
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112752648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 279
(R279C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088373]
[ENSMUST00000113169]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000060215
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088373
AA Change: R279C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: R279C
| 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 damaging
Transcript: ENSMUST00000113169
AA Change: R279C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: R279C
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,178,517 (GRCm39) |
T1152M |
possibly damaging |
Het |
| Abcg2 |
G |
T |
6: 58,642,120 (GRCm39) |
R136I |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,924,310 (GRCm39) |
V641A |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,540,390 (GRCm39) |
D706E |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,947,621 (GRCm39) |
L311Q |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,342,690 (GRCm39) |
|
probably null |
Het |
| Car2 |
A |
T |
3: 14,960,629 (GRCm39) |
D129V |
probably benign |
Het |
| Catsper2 |
T |
C |
2: 121,237,217 (GRCm39) |
I228V |
probably damaging |
Het |
| Cdhr3 |
C |
A |
12: 33,101,054 (GRCm39) |
R452M |
probably benign |
Het |
| Chrm1 |
A |
T |
19: 8,656,672 (GRCm39) |
Q459L |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 19,098,264 (GRCm39) |
|
probably benign |
Het |
| Coa7 |
A |
G |
4: 108,189,426 (GRCm39) |
D42G |
probably damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,933 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,472 (GRCm39) |
Q165* |
probably null |
Het |
| Cyp3a11 |
G |
A |
5: 145,791,927 (GRCm39) |
P489S |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,916,910 (GRCm39) |
I276F |
probably damaging |
Het |
| Dsg1b |
T |
A |
18: 20,542,517 (GRCm39) |
M1008K |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,584,880 (GRCm39) |
I198N |
probably damaging |
Het |
| Dtymk |
C |
A |
1: 93,722,541 (GRCm39) |
E87D |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,167,854 (GRCm39) |
D1749E |
probably benign |
Het |
| Dzip3 |
G |
T |
16: 48,749,986 (GRCm39) |
Q1050K |
probably damaging |
Het |
| Echs1 |
C |
T |
7: 139,690,026 (GRCm39) |
|
probably benign |
Het |
| Enc1 |
T |
A |
13: 97,382,978 (GRCm39) |
I496N |
possibly damaging |
Het |
| Epc2 |
A |
T |
2: 49,426,658 (GRCm39) |
Y139F |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,719,693 (GRCm39) |
N246I |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,108,542 (GRCm39) |
K190R |
probably damaging |
Het |
| Gm5424 |
A |
T |
10: 61,907,971 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbp1l1 |
A |
C |
4: 116,431,740 (GRCm39) |
T133P |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,180,022 (GRCm39) |
F146S |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,955,715 (GRCm39) |
I190L |
probably benign |
Het |
| Hif3a |
C |
T |
7: 16,775,047 (GRCm39) |
R515H |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,490,796 (GRCm39) |
M971I |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,530,314 (GRCm39) |
D442N |
probably benign |
Het |
| Manba |
A |
T |
3: 135,223,748 (GRCm39) |
I212F |
possibly damaging |
Het |
| Map3k13 |
A |
G |
16: 21,710,981 (GRCm39) |
E88G |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,382,216 (GRCm39) |
L163P |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,080,006 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
A |
14: 79,653,312 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
A |
G |
14: 79,653,420 (GRCm39) |
D365G |
possibly damaging |
Het |
| Mtrf1 |
C |
T |
14: 79,653,311 (GRCm39) |
|
probably benign |
Het |
| Myadm |
C |
T |
7: 3,345,403 (GRCm39) |
T55I |
possibly damaging |
Het |
| Nlgn1 |
A |
T |
3: 26,187,411 (GRCm39) |
I158N |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,752,313 (GRCm39) |
L690P |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,013,617 (GRCm39) |
D544E |
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,320,482 (GRCm39) |
L20Q |
probably damaging |
Het |
| Or1e30 |
T |
A |
11: 73,678,309 (GRCm39) |
S182T |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,579 (GRCm39) |
I17N |
possibly damaging |
Het |
| Or9i16 |
A |
G |
19: 13,864,801 (GRCm39) |
Y258H |
probably damaging |
Het |
| Padi3 |
G |
A |
4: 140,537,909 (GRCm39) |
Q4* |
probably null |
Het |
| Pfkl |
A |
T |
10: 77,841,309 (GRCm39) |
I13K |
possibly damaging |
Het |
| Pinx1 |
A |
G |
14: 64,157,018 (GRCm39) |
D315G |
probably benign |
Het |
| Prickle3 |
A |
G |
X: 7,529,735 (GRCm39) |
D47G |
probably benign |
Het |
| Psmd10 |
A |
T |
X: 139,857,403 (GRCm39) |
V5E |
probably damaging |
Het |
| Rasgrf2 |
C |
A |
13: 92,136,098 (GRCm39) |
V605F |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 46,981,146 (GRCm39) |
A84D |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,852,588 (GRCm39) |
V112A |
probably damaging |
Het |
| Trav21-dv12 |
T |
C |
14: 54,113,501 (GRCm39) |
L10P |
unknown |
Het |
| Vmn1r236 |
A |
T |
17: 21,507,236 (GRCm39) |
H118L |
probably benign |
Het |
| Vmn2r120 |
A |
G |
17: 57,816,372 (GRCm39) |
M661T |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,782 (GRCm39) |
I218F |
probably damaging |
Het |
| Vmn2r41 |
G |
T |
7: 8,141,682 (GRCm39) |
A594D |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,589,283 (GRCm39) |
E103G |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,106,298 (GRCm39) |
G130* |
probably null |
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 |
|
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 |
|
R4781:Srgap3
|
UTSW |
6 |
112,734,386 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation