Incidental Mutation 'IGL02176:Arhgap33'
| ID |
283114 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap33
|
| Ensembl Gene |
ENSMUSG00000036882 |
| Gene Name |
Rho GTPase activating protein 33 |
| Synonyms |
Snx26, Tcgap, NOMA-GAP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
IGL02176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30221651-30234485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30223476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 851
(H851L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044338]
[ENSMUST00000207858]
[ENSMUST00000207860]
[ENSMUST00000208522]
[ENSMUST00000208538]
|
| AlphaFold |
Q80YF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044338
AA Change: H851L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882
AA Change: H851L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
SH3
|
213 |
271 |
5.32e-12 |
SMART |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
RhoGAP
|
350 |
531 |
4.05e-67 |
SMART |
|
low complexity region
|
582 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
850 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
988 |
N/A |
INTRINSIC |
|
low complexity region
|
1076 |
1086 |
N/A |
INTRINSIC |
|
low complexity region
|
1158 |
1166 |
N/A |
INTRINSIC |
|
low complexity region
|
1194 |
1216 |
N/A |
INTRINSIC |
|
low complexity region
|
1284 |
1291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207637
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207858
AA Change: H827L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207860
AA Change: H851L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208522
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208538
AA Change: H851L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display region specific thinning of the cerebral cortex with reduced dendritic complexity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
| Ankle1 |
C |
A |
8: 71,858,903 (GRCm39) |
H45Q |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
| Atp12a |
C |
T |
14: 56,624,636 (GRCm39) |
S972L |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,545 (GRCm39) |
T223A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
| C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
| Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
| CN725425 |
G |
A |
15: 91,130,024 (GRCm39) |
V296I |
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
| Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
| Efs |
C |
T |
14: 55,158,499 (GRCm39) |
G53D |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
| Gabre |
G |
A |
X: 71,318,259 (GRCm39) |
Q17* |
probably null |
Het |
| Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
T |
A |
2: 31,058,858 (GRCm39) |
V116D |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,686,964 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,158,111 (GRCm39) |
|
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
| Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
| Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
| Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
| Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
| Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
| Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
| Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
| Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
probably damaging |
Het |
|
| Other mutations in Arhgap33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Arhgap33
|
APN |
7 |
30,229,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02430:Arhgap33
|
APN |
7 |
30,222,185 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03091:Arhgap33
|
APN |
7 |
30,227,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Arhgap33
|
UTSW |
7 |
30,222,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0494:Arhgap33
|
UTSW |
7 |
30,223,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0597:Arhgap33
|
UTSW |
7 |
30,225,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0717:Arhgap33
|
UTSW |
7 |
30,227,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Arhgap33
|
UTSW |
7 |
30,231,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Arhgap33
|
UTSW |
7 |
30,232,488 (GRCm39) |
splice site |
probably null |
|
|
R1882:Arhgap33
|
UTSW |
7 |
30,222,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2161:Arhgap33
|
UTSW |
7 |
30,228,075 (GRCm39) |
splice site |
probably null |
|
|
R2566:Arhgap33
|
UTSW |
7 |
30,226,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Arhgap33
|
UTSW |
7 |
30,223,561 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4552:Arhgap33
|
UTSW |
7 |
30,218,533 (GRCm39) |
unclassified |
probably benign |
|
|
R4778:Arhgap33
|
UTSW |
7 |
30,231,518 (GRCm39) |
missense |
probably benign |
|
|
R4887:Arhgap33
|
UTSW |
7 |
30,231,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4957:Arhgap33
|
UTSW |
7 |
30,231,786 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5001:Arhgap33
|
UTSW |
7 |
30,232,441 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5140:Arhgap33
|
UTSW |
7 |
30,227,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Arhgap33
|
UTSW |
7 |
30,223,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5704:Arhgap33
|
UTSW |
7 |
30,219,045 (GRCm39) |
unclassified |
probably benign |
|
|
R5805:Arhgap33
|
UTSW |
7 |
30,225,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6476:Arhgap33
|
UTSW |
7 |
30,223,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6485:Arhgap33
|
UTSW |
7 |
30,223,429 (GRCm39) |
missense |
probably benign |
|
|
R6572:Arhgap33
|
UTSW |
7 |
30,226,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Arhgap33
|
UTSW |
7 |
30,225,296 (GRCm39) |
splice site |
probably null |
|
|
R7205:Arhgap33
|
UTSW |
7 |
30,232,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7241:Arhgap33
|
UTSW |
7 |
30,228,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Arhgap33
|
UTSW |
7 |
30,231,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Arhgap33
|
UTSW |
7 |
30,225,794 (GRCm39) |
missense |
probably benign |
|
|
R7384:Arhgap33
|
UTSW |
7 |
30,226,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Arhgap33
|
UTSW |
7 |
30,222,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7693:Arhgap33
|
UTSW |
7 |
30,225,537 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7747:Arhgap33
|
UTSW |
7 |
30,223,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7893:Arhgap33
|
UTSW |
7 |
30,228,201 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7915:Arhgap33
|
UTSW |
7 |
30,222,648 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8819:Arhgap33
|
UTSW |
7 |
30,228,165 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8820:Arhgap33
|
UTSW |
7 |
30,228,165 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8912:Arhgap33
|
UTSW |
7 |
30,232,467 (GRCm39) |
splice site |
probably benign |
|
|
R8922:Arhgap33
|
UTSW |
7 |
30,223,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9211:Arhgap33
|
UTSW |
7 |
30,223,023 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9616:Arhgap33
|
UTSW |
7 |
30,229,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9755:Arhgap33
|
UTSW |
7 |
30,227,926 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9762:Arhgap33
|
UTSW |
7 |
30,230,950 (GRCm39) |
missense |
probably null |
1.00 |
|
X0034:Arhgap33
|
UTSW |
7 |
30,223,874 (GRCm39) |
small deletion |
probably benign |
|
|
Z1176:Arhgap33
|
UTSW |
7 |
30,222,142 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1177:Arhgap33
|
UTSW |
7 |
30,222,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Arhgap33
|
UTSW |
7 |
30,223,904 (GRCm39) |
small insertion |
probably benign |
|
|
Z1186:Arhgap33
|
UTSW |
7 |
30,223,860 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Arhgap33
|
UTSW |
7 |
30,223,076 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2015-04-16 |
Incidental Mutation