Incidental Mutation 'R3157:Arhgap27'
| ID |
263550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap27
|
| Ensembl Gene |
ENSMUSG00000034255 |
| Gene Name |
Rho GTPase activating protein 27 |
| Synonyms |
5730442P18Rik, Sh3d20, 2310069I04Rik |
| MMRRC Submission |
040608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R3157 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
103222323-103254518 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 103224663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041385]
[ENSMUST00000041385]
[ENSMUST00000107024]
[ENSMUST00000107024]
|
| AlphaFold |
A2AB59 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041385
|
| SMART Domains |
Protein: ENSMUSP00000039427
Gene: ENSMUSG00000034255
| 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 null
Transcript: ENSMUST00000041385
|
| SMART Domains |
Protein: ENSMUSP00000039427
Gene: ENSMUSG00000034255
| 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 null
Transcript: ENSMUST00000107024
|
| SMART Domains |
Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255
| 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 null
Transcript: ENSMUST00000107024
|
| SMART Domains |
Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255
| 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 |
noncoding transcript
Transcript: ENSMUST00000116102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163250
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (47/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
T |
13: 8,747,669 (GRCm39) |
K408N |
probably benign |
Het |
| Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
| Ap1g2 |
A |
T |
14: 55,336,731 (GRCm39) |
I747N |
probably damaging |
Het |
| Bmp1 |
G |
T |
14: 70,729,547 (GRCm39) |
N541K |
possibly damaging |
Het |
| Cacna1c |
T |
A |
6: 118,728,485 (GRCm39) |
T320S |
probably benign |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
| Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| D630003M21Rik |
A |
C |
2: 158,037,392 (GRCm39) |
|
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,127,195 (GRCm39) |
Y1058H |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,474,901 (GRCm39) |
T4A |
probably damaging |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gxylt1 |
A |
G |
15: 93,142,913 (GRCm39) |
I384T |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,290,267 (GRCm39) |
N2367D |
probably damaging |
Het |
| Hydin |
A |
G |
8: 110,994,005 (GRCm39) |
K13R |
unknown |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kcns1 |
G |
A |
2: 164,006,865 (GRCm39) |
A366V |
probably damaging |
Het |
| Kif5a |
A |
T |
10: 127,081,310 (GRCm39) |
I208N |
probably damaging |
Het |
| Klrb1c |
G |
T |
6: 128,761,702 (GRCm39) |
T134K |
possibly damaging |
Het |
| Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
| Mgat4d |
T |
C |
8: 84,081,450 (GRCm39) |
Y68H |
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,833,400 (GRCm39) |
D295E |
probably benign |
Het |
| Npas2 |
C |
T |
1: 39,386,690 (GRCm39) |
T653M |
possibly damaging |
Het |
| Nps |
A |
G |
7: 134,873,989 (GRCm39) |
D53G |
probably benign |
Het |
| Ociad1 |
A |
T |
5: 73,467,688 (GRCm39) |
R155* |
probably null |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,073,145 (GRCm39) |
T259A |
probably damaging |
Het |
| Pced1a |
A |
G |
2: 130,261,687 (GRCm39) |
M322T |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,028,475 (GRCm39) |
|
probably benign |
Het |
| Pigg |
C |
T |
5: 108,462,014 (GRCm39) |
T115I |
probably damaging |
Het |
| Plcd4 |
G |
A |
1: 74,590,313 (GRCm39) |
|
probably null |
Het |
| Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 156,986,225 (GRCm39) |
|
probably benign |
Het |
| Rec8 |
A |
G |
14: 55,862,763 (GRCm39) |
E574G |
probably damaging |
Het |
| Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
| Slc16a8 |
T |
C |
15: 79,136,375 (GRCm39) |
I276V |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,766 (GRCm39) |
R351L |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,077,606 (GRCm39) |
G100E |
probably damaging |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Synpr |
C |
T |
14: 13,493,614 (GRCm38) |
A64V |
possibly damaging |
Het |
| Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
| Tpt1 |
G |
A |
14: 76,083,840 (GRCm39) |
|
probably benign |
Het |
| Trav18 |
A |
G |
14: 54,069,152 (GRCm39) |
T65A |
probably benign |
Het |
| Ttll4 |
T |
C |
1: 74,736,770 (GRCm39) |
L1165P |
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 |
|
|
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 |
|
R7949:Arhgap27
|
UTSW |
11 |
103,228,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TGCGGTACAGCCCATCAATATC -3'
(R):5'- GGCTACATCAAAGGTACCTGC -3'
Sequencing Primer
(F):5'- TCAATATCCAGCCCTGCGG -3'
(R):5'- TCAAAGGTACCTGCAGTTCG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation