Incidental Mutation 'R8066:Srgap3'
| ID |
619996 |
| Institutional Source |
Beutler Lab
|
| 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: 0.234)
|
| Stock # |
R8066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112748339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 438
(F438L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088373]
[ENSMUST00000113169]
[ENSMUST00000131835]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000060215
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088373
AA Change: F438L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: F438L
| 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: F438L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: F438L
| 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 |
probably benign
Transcript: ENSMUST00000131835
|
| SMART Domains |
Protein: ENSMUSP00000130063
Gene: ENSMUSG00000030257
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
1 |
33 |
2e-14 |
BLAST |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,780,689 (GRCm39) |
V177A |
probably benign |
Het |
| Acsm2 |
C |
A |
7: 119,190,548 (GRCm39) |
T517K |
probably damaging |
Het |
| Adam29 |
T |
G |
8: 56,325,703 (GRCm39) |
L250F |
probably benign |
Het |
| Ankrd37 |
T |
C |
8: 46,450,726 (GRCm39) |
D135G |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,980 (GRCm39) |
T572A |
possibly damaging |
Het |
| Aspa |
T |
C |
11: 73,204,372 (GRCm39) |
K199E |
possibly damaging |
Het |
| Aurka |
A |
T |
2: 172,212,338 (GRCm39) |
I13K |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,361,283 (GRCm39) |
D446G |
unknown |
Het |
| Bcar3 |
A |
T |
3: 122,318,573 (GRCm39) |
I654F |
probably damaging |
Het |
| Ccdc188 |
A |
T |
16: 18,037,058 (GRCm39) |
N210Y |
probably damaging |
Het |
| Ccdc25 |
A |
T |
14: 66,083,751 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ccn5 |
G |
T |
2: 163,670,862 (GRCm39) |
C123F |
probably damaging |
Het |
| Cdc37 |
C |
T |
9: 21,054,437 (GRCm39) |
E63K |
probably benign |
Het |
| Chrm4 |
T |
A |
2: 91,758,042 (GRCm39) |
L150H |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,452,628 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
T |
A |
7: 110,633,104 (GRCm39) |
Y117* |
probably null |
Het |
| Cyp4f37 |
C |
A |
17: 32,854,047 (GRCm39) |
R499S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,277 (GRCm39) |
Y261C |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,030,679 (GRCm39) |
C468S |
unknown |
Het |
| Gart |
T |
C |
16: 91,436,335 (GRCm39) |
N141D |
probably benign |
Het |
| Get4 |
G |
A |
5: 139,249,293 (GRCm39) |
V126M |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,263 (GRCm39) |
S370G |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,230,812 (GRCm39) |
K162R |
probably benign |
Het |
| Grpel1 |
A |
G |
5: 36,626,889 (GRCm39) |
D57G |
probably benign |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,361,744 (GRCm39) |
L1149P |
probably benign |
Het |
| Lmbrd2 |
G |
A |
15: 9,172,172 (GRCm39) |
R322Q |
probably benign |
Het |
| Lrrc59 |
T |
C |
11: 94,525,426 (GRCm39) |
L74P |
possibly damaging |
Het |
| Mcam |
G |
T |
9: 44,052,257 (GRCm39) |
K589N |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,342,562 (GRCm39) |
L813Q |
possibly damaging |
Het |
| Oga |
T |
C |
19: 45,760,291 (GRCm39) |
K289R |
probably damaging |
Het |
| Or10h1 |
T |
C |
17: 33,418,126 (GRCm39) |
F35L |
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,985,014 (GRCm39) |
C197S |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,978,761 (GRCm39) |
V213I |
possibly damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,435 (GRCm39) |
I164L |
probably benign |
Het |
| Pck2 |
C |
A |
14: 55,781,858 (GRCm39) |
P251H |
probably benign |
Het |
| Phip |
A |
T |
9: 82,757,351 (GRCm39) |
I1607K |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,658,168 (GRCm39) |
T220A |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,618,478 (GRCm39) |
Q686* |
probably null |
Het |
| Pnpla2 |
A |
G |
7: 141,039,581 (GRCm39) |
*487W |
probably null |
Het |
| Prdm14 |
C |
A |
1: 13,184,540 (GRCm39) |
G544C |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,452,218 (GRCm39) |
E45G |
possibly damaging |
Het |
| Psmb5 |
T |
C |
14: 54,851,698 (GRCm39) |
D249G |
probably benign |
Het |
| Pstpip1 |
A |
G |
9: 56,033,913 (GRCm39) |
I296V |
probably benign |
Het |
| S1pr3 |
T |
A |
13: 51,573,955 (GRCm39) |
*379R |
probably null |
Het |
| Smc3 |
G |
A |
19: 53,603,576 (GRCm39) |
R57H |
probably damaging |
Het |
| Spata31g1 |
C |
A |
4: 42,971,929 (GRCm39) |
Q421K |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,139,484 (GRCm39) |
H1268Q |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,120,804 (GRCm39) |
R155C |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,113,650 (GRCm39) |
V999A |
probably benign |
Het |
| Tchp |
T |
A |
5: 114,847,472 (GRCm39) |
L97Q |
probably benign |
Het |
| Tex46 |
G |
A |
4: 136,340,265 (GRCm39) |
V117M |
probably benign |
Het |
| Tnnc2 |
T |
A |
2: 164,619,661 (GRCm39) |
I102F |
possibly damaging |
Het |
| Trbv5 |
T |
A |
6: 41,039,326 (GRCm39) |
C12S |
probably damaging |
Het |
| Trub2 |
T |
A |
2: 29,667,867 (GRCm39) |
T258S |
possibly damaging |
Het |
| Uba3 |
T |
A |
6: 97,178,882 (GRCm39) |
N87I |
probably damaging |
Het |
| Vmn1r160 |
A |
T |
7: 22,571,315 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,565 (GRCm39) |
Y218* |
probably null |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,419 (GRCm39) |
M157V |
probably benign |
Het |
| Vps53 |
T |
C |
11: 76,027,133 (GRCm39) |
E127G |
probably damaging |
Het |
| Vsig10 |
G |
T |
5: 117,489,849 (GRCm39) |
E538D |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,796,095 (GRCm39) |
H188Q |
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 |
|
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 |
|
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'- CTTCCAAAGGCATCAGTGACCATC -3'
(R):5'- CACCATGCAGACCTTACAGG -3'
Sequencing Primer
(F):5'- GGGTGAGTCACTCTACACTTCAG -3'
(R):5'- TGCAGACCTTACAGGACATGCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation