Incidental Mutation 'R4778:Arhgap33'
| ID |
368081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap33
|
| Ensembl Gene |
ENSMUSG00000036882 |
| Gene Name |
Rho GTPase activating protein 33 |
| Synonyms |
Snx26, Tcgap, NOMA-GAP |
| MMRRC Submission |
042414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R4778 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30221651-30234485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30231518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 156
(T156S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044338]
[ENSMUST00000207858]
[ENSMUST00000207860]
[ENSMUST00000208491]
[ENSMUST00000208522]
[ENSMUST00000208538]
|
| AlphaFold |
Q80YF9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044338
AA Change: T156S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882
AA Change: T156S
| 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: ENSMUST00000207637
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207858
AA Change: T132S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207860
AA Change: T156S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208538
AA Change: T156S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208723
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,615,342 (GRCm39) |
N1349S |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,989,339 (GRCm39) |
V3541A |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,991,214 (GRCm39) |
M897K |
possibly damaging |
Het |
| Card11 |
G |
T |
5: 140,869,537 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
A |
8: 107,270,458 (GRCm39) |
I445N |
probably damaging |
Het |
| Csrp3 |
T |
G |
7: 48,482,311 (GRCm39) |
K169N |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Czib |
T |
C |
4: 107,749,195 (GRCm39) |
V64A |
probably damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
| Erc1 |
A |
T |
6: 119,774,298 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,491,363 (GRCm39) |
V3808A |
probably benign |
Het |
| Fbxw19 |
T |
C |
9: 109,323,714 (GRCm39) |
D87G |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,900,560 (GRCm39) |
I99V |
probably benign |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Hand1 |
T |
C |
11: 57,722,449 (GRCm39) |
D55G |
possibly damaging |
Het |
| Lrguk |
T |
A |
6: 34,033,015 (GRCm39) |
I227K |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,683,583 (GRCm39) |
R726* |
probably null |
Het |
| Minar1 |
T |
A |
9: 89,485,155 (GRCm39) |
I81F |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,619,694 (GRCm39) |
V1415E |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,938,011 (GRCm39) |
D901G |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,156 (GRCm39) |
Y670H |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,638,924 (GRCm39) |
Y171* |
probably null |
Het |
| Notch4 |
C |
T |
17: 34,801,485 (GRCm39) |
A1111V |
possibly damaging |
Het |
| Nphp4 |
T |
A |
4: 152,640,748 (GRCm39) |
D1038E |
probably benign |
Het |
| Or2ag1b |
A |
C |
7: 106,288,874 (GRCm39) |
S21R |
probably damaging |
Het |
| Or5p60 |
A |
T |
7: 107,723,687 (GRCm39) |
I261N |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 114,938,598 (GRCm39) |
S86L |
probably damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,608,893 (GRCm39) |
G252R |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,478,698 (GRCm39) |
H15Q |
probably benign |
Het |
| Pstpip1 |
A |
G |
9: 56,035,904 (GRCm39) |
D383G |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,426,883 (GRCm39) |
T1551A |
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,131,780 (GRCm39) |
F626L |
probably damaging |
Het |
| Retreg1 |
C |
A |
15: 25,971,871 (GRCm39) |
N394K |
possibly damaging |
Het |
| Rpl7-ps8 |
T |
A |
15: 59,083,252 (GRCm39) |
|
noncoding transcript |
Het |
| Rpp14 |
T |
A |
14: 8,090,203 (GRCm38) |
D42E |
probably benign |
Het |
| Rrp8 |
T |
A |
7: 105,386,481 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 66,008,698 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
A |
T |
2: 166,805,442 (GRCm39) |
N51K |
probably benign |
Het |
| Tdrd5 |
T |
A |
1: 156,083,157 (GRCm39) |
D960V |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,436,468 (GRCm39) |
D750G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,459,237 (GRCm39) |
V236A |
probably damaging |
Het |
| Tmem89 |
T |
C |
9: 108,744,443 (GRCm39) |
V112A |
probably damaging |
Het |
| Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
| Vmn1r41 |
A |
C |
6: 89,724,257 (GRCm39) |
K266T |
probably damaging |
Het |
| Vmn2r65 |
T |
C |
7: 84,592,801 (GRCm39) |
K469E |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,488,600 (GRCm39) |
T1092A |
possibly damaging |
Het |
| Zfp981 |
T |
A |
4: 146,622,112 (GRCm39) |
S346T |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCCTCTAACATCCTGATTC -3'
(R):5'- GCTCTGTGTAATGGAGTCTGCAC -3'
Sequencing Primer
(F):5'- TCCACACAGATTGGTTGGAACTCAG -3'
(R):5'- GTAATGGAGTCTGCACCCTCTG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation