Incidental Mutation 'IGL02430:Arhgap33'
| ID |
293106 |
| 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: 0.185)
|
| Stock # |
IGL02430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30221651-30234485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30222185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1249
(E1249G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044338]
[ENSMUST00000207858]
[ENSMUST00000207860]
[ENSMUST00000208522]
[ENSMUST00000208538]
|
| AlphaFold |
Q80YF9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044338
AA Change: E1249G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882
AA Change: E1249G
| 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 |
probably benign
Transcript: ENSMUST00000207858
AA Change: E1225G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207860
AA Change: E1249G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208538
AA Change: E1249G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C8a |
G |
A |
4: 104,674,719 (GRCm39) |
T540I |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,136,701 (GRCm39) |
W388L |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,822,160 (GRCm39) |
Y114* |
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,710,530 (GRCm39) |
V337A |
probably benign |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,139 (GRCm39) |
K275E |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,178 (GRCm39) |
V414A |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,815,403 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,367,200 (GRCm39) |
R198* |
probably null |
Het |
| Gpaa1 |
T |
C |
15: 76,216,388 (GRCm39) |
S36P |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,667,971 (GRCm39) |
V532A |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,266,469 (GRCm39) |
C217S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,846,175 (GRCm39) |
Y925F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,027,797 (GRCm39) |
I871V |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,409 (GRCm39) |
S168P |
possibly damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,608 (GRCm39) |
I211V |
probably benign |
Het |
| Or5p70 |
A |
T |
7: 107,994,929 (GRCm39) |
I201F |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,966,096 (GRCm39) |
N754K |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,470,810 (GRCm39) |
M442K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,443,056 (GRCm39) |
N28S |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,767,477 (GRCm39) |
Y242C |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,325,477 (GRCm39) |
K4E |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,266,735 (GRCm39) |
T774S |
probably benign |
Het |
| Selp |
C |
A |
1: 163,953,952 (GRCm39) |
P84Q |
probably damaging |
Het |
| Sh3bp4 |
T |
A |
1: 89,080,885 (GRCm39) |
W901R |
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,426,305 (GRCm39) |
Y527H |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,068,601 (GRCm39) |
|
probably null |
Het |
| Spidr |
C |
T |
16: 15,932,774 (GRCm39) |
D169N |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,630 (GRCm39) |
L183P |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,817,143 (GRCm39) |
T233I |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,856,667 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,464,634 (GRCm39) |
I231N |
probably damaging |
Het |
| Ubl3 |
A |
T |
5: 148,488,766 (GRCm39) |
D8E |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,150,295 (GRCm39) |
I465M |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,158 (GRCm39) |
I251T |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,085 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,238,140 (GRCm39) |
Y195H |
probably damaging |
Het |
| Wdr27 |
A |
C |
17: 15,122,062 (GRCm39) |
S615A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,792 (GRCm39) |
L114H |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,414,113 (GRCm39) |
|
probably benign |
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 |
|
IGL02176:Arhgap33
|
APN |
7 |
30,223,476 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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