Incidental Mutation 'R7949:Arhgap27'
ID |
649476 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap27
|
Ensembl Gene |
ENSMUSG00000034255 |
Gene Name |
Rho GTPase activating protein 27 |
Synonyms |
5730442P18Rik, Sh3d20, 2310069I04Rik |
MMRRC Submission |
045994-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R7949 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
103222323-103254518 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103228595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 349
(S349P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041385]
[ENSMUST00000107023]
[ENSMUST00000107024]
[ENSMUST00000136491]
|
AlphaFold |
A2AB59 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041385
AA Change: S349P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039427 Gene: ENSMUSG00000034255 AA Change: S349P
Domain | Start | End | E-Value | Type |
WW
|
48 |
81 |
3.49e-8 |
SMART |
WW
|
101 |
134 |
7.44e-3 |
SMART |
WW
|
216 |
248 |
2.32e-4 |
SMART |
PH
|
279 |
396 |
1.08e-9 |
SMART |
Blast:RhoGAP
|
446 |
480 |
2e-10 |
BLAST |
RhoGAP
|
489 |
664 |
1.45e-68 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107023
|
SMART Domains |
Protein: ENSMUSP00000102638 Gene: ENSMUSG00000034255
Domain | Start | End | E-Value | Type |
WW
|
62 |
95 |
3.49e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107024
AA Change: S548P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102639 Gene: ENSMUSG00000034255 AA Change: S548P
Domain | Start | End | E-Value | Type |
SH3
|
9 |
68 |
1.59e-1 |
SMART |
low complexity region
|
73 |
89 |
N/A |
INTRINSIC |
WW
|
247 |
280 |
3.49e-8 |
SMART |
WW
|
300 |
333 |
7.44e-3 |
SMART |
WW
|
415 |
447 |
2.32e-4 |
SMART |
PH
|
478 |
595 |
1.08e-9 |
SMART |
Blast:RhoGAP
|
651 |
682 |
1e-6 |
BLAST |
RhoGAP
|
688 |
863 |
1.45e-68 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136491
|
SMART Domains |
Protein: ENSMUSP00000128051 Gene: ENSMUSG00000034255
Domain | Start | End | E-Value | Type |
Blast:WW
|
52 |
81 |
4e-10 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (47/47) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
G |
A |
13: 81,303,353 (GRCm39) |
T6111M |
probably damaging |
Het |
Adprhl1 |
T |
G |
8: 13,274,225 (GRCm39) |
R844S |
possibly damaging |
Het |
Aldh1b1 |
A |
G |
4: 45,802,807 (GRCm39) |
E115G |
possibly damaging |
Het |
Anp32a |
A |
G |
9: 62,280,948 (GRCm39) |
E170G |
unknown |
Het |
Asns |
T |
A |
6: 7,685,328 (GRCm39) |
I110F |
probably damaging |
Het |
Atad3a |
T |
C |
4: 155,833,152 (GRCm39) |
H437R |
possibly damaging |
Het |
Atl2 |
C |
A |
17: 80,167,289 (GRCm39) |
R244L |
probably damaging |
Het |
Bcl2l14 |
A |
T |
6: 134,407,083 (GRCm39) |
D222V |
probably damaging |
Het |
Ccdc102a |
G |
T |
8: 95,631,913 (GRCm39) |
Q498K |
probably damaging |
Het |
Cdc14b |
T |
C |
13: 64,338,212 (GRCm39) |
|
probably null |
Het |
Cdcp3 |
G |
A |
7: 130,895,324 (GRCm39) |
|
probably null |
Het |
Cep162 |
T |
A |
9: 87,088,901 (GRCm39) |
M994L |
probably benign |
Het |
Ddx18 |
A |
G |
1: 121,483,047 (GRCm39) |
Y580H |
probably damaging |
Het |
Entpd6 |
C |
A |
2: 150,612,197 (GRCm39) |
|
probably null |
Het |
Fer |
T |
A |
17: 64,440,503 (GRCm39) |
S707T |
probably damaging |
Het |
Gabra6 |
A |
G |
11: 42,207,826 (GRCm39) |
V215A |
probably benign |
Het |
Gm20671 |
A |
G |
5: 32,977,288 (GRCm39) |
V142A |
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,250,253 (GRCm39) |
N1439K |
probably benign |
Het |
Igbp1b |
T |
C |
6: 138,635,414 (GRCm39) |
K10R |
probably benign |
Het |
Ighv5-8 |
TATATATATATATATATATATATA |
TATATATATATATATATATATATATA |
12: 113,618,563 (GRCm39) |
|
probably null |
Het |
Igkv12-44 |
A |
T |
6: 69,791,874 (GRCm39) |
S30T |
probably benign |
Het |
Immt |
A |
T |
6: 71,851,327 (GRCm39) |
R563* |
probably null |
Het |
Jakmip1 |
A |
T |
5: 37,339,492 (GRCm39) |
Q1231L |
probably damaging |
Het |
Jsrp1 |
T |
C |
10: 80,647,906 (GRCm39) |
T51A |
probably benign |
Het |
Krtap31-1 |
A |
G |
11: 99,799,144 (GRCm39) |
T116A |
possibly damaging |
Het |
Lrp8 |
T |
A |
4: 107,660,524 (GRCm39) |
D61E |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,262,081 (GRCm39) |
D311G |
probably benign |
Het |
Men1 |
C |
T |
19: 6,388,323 (GRCm39) |
S314L |
possibly damaging |
Het |
Nxpe2 |
T |
C |
9: 48,234,397 (GRCm39) |
N290S |
possibly damaging |
Het |
Or2f2 |
T |
C |
6: 42,767,588 (GRCm39) |
V205A |
possibly damaging |
Het |
Or5b105 |
T |
A |
19: 13,080,610 (GRCm39) |
|
probably null |
Het |
Pcolce2 |
A |
T |
9: 95,576,688 (GRCm39) |
T320S |
probably benign |
Het |
Phc2 |
C |
T |
4: 128,603,401 (GRCm39) |
T177M |
probably damaging |
Het |
Phf21b |
G |
T |
15: 84,676,036 (GRCm39) |
P337H |
probably damaging |
Het |
Pinlyp |
G |
T |
7: 24,245,375 (GRCm39) |
T15K |
probably damaging |
Het |
Ppox |
A |
T |
1: 171,105,521 (GRCm39) |
S307R |
probably benign |
Het |
Ptk7 |
T |
A |
17: 46,897,387 (GRCm39) |
E315V |
possibly damaging |
Het |
Pxk |
T |
C |
14: 8,144,233 (GRCm38) |
I327T |
probably damaging |
Het |
Rabgap1 |
A |
T |
2: 37,453,491 (GRCm39) |
K973I |
probably benign |
Het |
Rbbp8 |
A |
T |
18: 11,851,892 (GRCm39) |
I238L |
probably benign |
Het |
Runx2 |
T |
A |
17: 45,046,442 (GRCm39) |
D109V |
possibly damaging |
Het |
Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
Slco1a8 |
C |
A |
6: 141,939,991 (GRCm39) |
G171C |
probably damaging |
Het |
Sptlc3 |
T |
C |
2: 139,467,795 (GRCm39) |
I451T |
possibly damaging |
Het |
Sugp1 |
A |
T |
8: 70,509,153 (GRCm39) |
Y142F |
possibly damaging |
Het |
Sumf2 |
T |
C |
5: 129,881,759 (GRCm39) |
F98S |
probably damaging |
Het |
Tmem120a |
C |
T |
5: 135,771,220 (GRCm39) |
E39K |
possibly damaging |
Het |
Tnxb |
C |
T |
17: 34,936,103 (GRCm39) |
P2680L |
probably damaging |
Het |
Zfp78 |
C |
G |
7: 6,382,365 (GRCm39) |
R472G |
possibly damaging |
Het |
|
Other mutations in Arhgap27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02318:Arhgap27
|
APN |
11 |
103,223,989 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02946:Arhgap27
|
APN |
11 |
103,229,174 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03135:Arhgap27
|
APN |
11 |
103,229,891 (GRCm39) |
splice site |
probably null |
|
R1789:Arhgap27
|
UTSW |
11 |
103,223,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R1842:Arhgap27
|
UTSW |
11 |
103,230,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R1906:Arhgap27
|
UTSW |
11 |
103,223,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R2884:Arhgap27
|
UTSW |
11 |
103,251,669 (GRCm39) |
splice site |
probably null |
|
R2885:Arhgap27
|
UTSW |
11 |
103,251,669 (GRCm39) |
splice site |
probably null |
|
R3157:Arhgap27
|
UTSW |
11 |
103,224,663 (GRCm39) |
splice site |
probably null |
|
R4679:Arhgap27
|
UTSW |
11 |
103,251,775 (GRCm39) |
unclassified |
probably benign |
|
R4708:Arhgap27
|
UTSW |
11 |
103,224,388 (GRCm39) |
splice site |
probably benign |
|
R4926:Arhgap27
|
UTSW |
11 |
103,229,949 (GRCm39) |
splice site |
probably null |
|
R5980:Arhgap27
|
UTSW |
11 |
103,247,095 (GRCm39) |
missense |
probably benign |
0.00 |
R6212:Arhgap27
|
UTSW |
11 |
103,251,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Arhgap27
|
UTSW |
11 |
103,235,367 (GRCm39) |
missense |
probably benign |
0.00 |
R7208:Arhgap27
|
UTSW |
11 |
103,251,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R7212:Arhgap27
|
UTSW |
11 |
103,251,581 (GRCm39) |
missense |
probably damaging |
0.99 |
R7327:Arhgap27
|
UTSW |
11 |
103,251,367 (GRCm39) |
nonsense |
probably null |
|
R7598:Arhgap27
|
UTSW |
11 |
103,224,879 (GRCm39) |
nonsense |
probably null |
|
R7732:Arhgap27
|
UTSW |
11 |
103,230,869 (GRCm39) |
missense |
probably benign |
0.00 |
R7791:Arhgap27
|
UTSW |
11 |
103,230,020 (GRCm39) |
critical splice donor site |
probably null |
|
R7826:Arhgap27
|
UTSW |
11 |
103,229,153 (GRCm39) |
missense |
probably benign |
|
R7869:Arhgap27
|
UTSW |
11 |
103,251,130 (GRCm39) |
missense |
probably damaging |
0.96 |
R8057:Arhgap27
|
UTSW |
11 |
103,229,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R8397:Arhgap27
|
UTSW |
11 |
103,224,073 (GRCm39) |
missense |
probably damaging |
0.98 |
R8974:Arhgap27
|
UTSW |
11 |
103,224,756 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9103:Arhgap27
|
UTSW |
11 |
103,251,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R9373:Arhgap27
|
UTSW |
11 |
103,251,287 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9397:Arhgap27
|
UTSW |
11 |
103,231,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R9762:Arhgap27
|
UTSW |
11 |
103,251,511 (GRCm39) |
missense |
probably benign |
0.02 |
R9787:Arhgap27
|
UTSW |
11 |
103,230,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0028:Arhgap27
|
UTSW |
11 |
103,223,854 (GRCm39) |
missense |
probably benign |
0.25 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCATGACAACACTAGGCATG -3'
(R):5'- CTTTAGCAAGCCCATCTGGATG -3'
Sequencing Primer
(F):5'- CAACACTAGGCATGAGTTTTTGAGTC -3'
(R):5'- GATGGATGCCCCTTATAATTTTGC -3'
|
Posted On |
2020-09-15 |