Incidental Mutation 'R1896:Srgap3'
ID |
211977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap3
|
Ensembl Gene |
ENSMUSG00000030257 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
Synonyms |
Arhgap14, D130026O08Rik |
MMRRC Submission |
039916-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R1896 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 112715958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 654
(H654L)
|
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
AA Change: H678L
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000085712 Gene: ENSMUSG00000030257 AA Change: H678L
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
AA Change: H654L
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000108794 Gene: ENSMUSG00000030257 AA Change: H654L
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: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.4%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abo |
C |
A |
2: 26,733,609 (GRCm39) |
D199Y |
probably damaging |
Het |
Acvr1c |
A |
C |
2: 58,170,306 (GRCm39) |
V277G |
probably damaging |
Het |
Adam23 |
G |
A |
1: 63,584,731 (GRCm39) |
A380T |
probably benign |
Het |
Art2b |
A |
G |
7: 101,229,236 (GRCm39) |
V221A |
probably benign |
Het |
Bcam |
A |
G |
7: 19,500,640 (GRCm39) |
S153P |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 36,962,380 (GRCm39) |
Q494* |
probably null |
Het |
C1qtnf1 |
G |
T |
11: 118,334,583 (GRCm39) |
G21V |
probably damaging |
Het |
Car13 |
T |
C |
3: 14,710,235 (GRCm39) |
I59T |
probably benign |
Het |
Cep97 |
T |
C |
16: 55,748,107 (GRCm39) |
N108D |
probably damaging |
Het |
Cog3 |
T |
A |
14: 75,979,784 (GRCm39) |
E182D |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,611,514 (GRCm39) |
K452R |
probably benign |
Het |
Endou |
A |
G |
15: 97,610,873 (GRCm39) |
Y404H |
probably damaging |
Het |
F12 |
T |
C |
13: 55,568,540 (GRCm39) |
Y373C |
probably damaging |
Het |
Fam221b |
T |
C |
4: 43,660,375 (GRCm39) |
T405A |
probably damaging |
Het |
Fetub |
A |
G |
16: 22,751,045 (GRCm39) |
R131G |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,379,767 (GRCm39) |
|
probably benign |
Het |
Ggt5 |
T |
C |
10: 75,440,560 (GRCm39) |
V227A |
probably damaging |
Het |
Gipr |
A |
G |
7: 18,897,996 (GRCm39) |
S79P |
probably benign |
Het |
Gphn |
A |
G |
12: 78,459,128 (GRCm39) |
D72G |
possibly damaging |
Het |
Gzmk |
A |
G |
13: 113,309,427 (GRCm39) |
S208P |
probably damaging |
Het |
Itpkc |
T |
C |
7: 26,907,805 (GRCm39) |
D633G |
probably damaging |
Het |
Jarid2 |
T |
C |
13: 45,038,358 (GRCm39) |
|
probably null |
Het |
Kif21b |
C |
A |
1: 136,075,583 (GRCm39) |
R237S |
possibly damaging |
Het |
Lama1 |
G |
A |
17: 68,098,218 (GRCm39) |
R1805H |
probably benign |
Het |
Lpin3 |
C |
T |
2: 160,747,218 (GRCm39) |
P815S |
probably damaging |
Het |
Lrp1 |
T |
A |
10: 127,395,867 (GRCm39) |
I2468F |
possibly damaging |
Het |
Nav1 |
T |
C |
1: 135,388,475 (GRCm39) |
N1118S |
probably benign |
Het |
Ncoa3 |
T |
A |
2: 165,890,384 (GRCm39) |
I90N |
probably benign |
Het |
Notch3 |
T |
C |
17: 32,362,402 (GRCm39) |
T1408A |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,962,753 (GRCm39) |
D779G |
probably benign |
Het |
Obox6 |
A |
T |
7: 15,568,770 (GRCm39) |
H35Q |
possibly damaging |
Het |
Pkd1l3 |
C |
A |
8: 110,350,831 (GRCm39) |
P559T |
possibly damaging |
Het |
Pou2af2 |
A |
G |
9: 51,203,098 (GRCm39) |
S19P |
probably damaging |
Het |
Pramel23 |
C |
G |
4: 143,424,714 (GRCm39) |
G243A |
probably benign |
Het |
Prex1 |
T |
A |
2: 166,428,574 (GRCm39) |
I716F |
probably benign |
Het |
Psap |
C |
T |
10: 60,130,826 (GRCm39) |
Q219* |
probably null |
Het |
Rab5if |
C |
T |
2: 156,707,252 (GRCm39) |
P64S |
probably damaging |
Het |
Shisa5 |
T |
A |
9: 108,885,108 (GRCm39) |
I126N |
probably damaging |
Het |
Slc11a1 |
T |
C |
1: 74,414,931 (GRCm39) |
L21P |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,194,167 (GRCm39) |
T172A |
probably damaging |
Het |
Sned1 |
C |
T |
1: 93,192,769 (GRCm39) |
P352L |
probably benign |
Het |
Sox4 |
T |
C |
13: 29,136,127 (GRCm39) |
Y293C |
probably damaging |
Het |
Stra6 |
A |
T |
9: 58,059,166 (GRCm39) |
M510L |
probably benign |
Het |
Syna |
C |
A |
5: 134,588,006 (GRCm39) |
M314I |
probably benign |
Het |
Taf5l |
A |
G |
8: 124,730,152 (GRCm39) |
L144P |
probably damaging |
Het |
Tll2 |
A |
G |
19: 41,101,498 (GRCm39) |
F379L |
probably benign |
Het |
Traf3ip3 |
A |
G |
1: 192,858,042 (GRCm39) |
V492A |
probably benign |
Het |
Uba2 |
A |
G |
7: 33,850,455 (GRCm39) |
F364S |
probably damaging |
Het |
Unc50 |
T |
A |
1: 37,476,323 (GRCm39) |
L161Q |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,282,206 (GRCm39) |
V1907A |
probably benign |
Het |
Uso1 |
A |
T |
5: 92,348,992 (GRCm39) |
|
probably null |
Het |
Utf1 |
C |
A |
7: 139,524,213 (GRCm39) |
L143I |
probably damaging |
Het |
Vmn1r158 |
C |
T |
7: 22,490,143 (GRCm39) |
C22Y |
probably damaging |
Het |
Vmn1r36 |
T |
A |
6: 66,693,756 (GRCm39) |
M40L |
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,258,055 (GRCm39) |
V386A |
possibly damaging |
Het |
Vps9d1 |
C |
A |
8: 123,973,778 (GRCm39) |
R335L |
probably damaging |
Het |
Zbtb26 |
A |
G |
2: 37,326,347 (GRCm39) |
S230P |
possibly damaging |
Het |
Zfp74 |
A |
T |
7: 29,634,569 (GRCm39) |
C380S |
probably damaging |
Het |
Zfyve1 |
A |
C |
12: 83,602,388 (GRCm39) |
V469G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCTATAGTGCGTGTCCCC -3'
(R):5'- AGAAACTTCTGCATTTGGGTTG -3'
Sequencing Primer
(F):5'- CGTGTCCCCTAGGGTAATGAG -3'
(R):5'- AAACTTCTGCATTTGGGTTGTGTCC -3'
|
Posted On |
2014-06-30 |