Incidental Mutation 'IGL02654:Arhgef33'
ID |
302268 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgef33
|
Ensembl Gene |
ENSMUSG00000054901 |
Gene Name |
Rho guanine nucleotide exchange factor 33 |
Synonyms |
LOC381112, Gm941 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL02654
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
80614836-80707510 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80677740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 429
(Y429C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068175]
[ENSMUST00000086549]
[ENSMUST00000223878]
[ENSMUST00000224966]
[ENSMUST00000225658]
[ENSMUST00000225548]
[ENSMUST00000225223]
|
AlphaFold |
Q8BW86 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068175
AA Change: Y429C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063284 Gene: ENSMUSG00000054901 AA Change: Y429C
Domain | Start | End | E-Value | Type |
coiled coil region
|
64 |
128 |
N/A |
INTRINSIC |
low complexity region
|
129 |
149 |
N/A |
INTRINSIC |
Pfam:RhoGEF
|
277 |
446 |
4.7e-16 |
PFAM |
low complexity region
|
455 |
473 |
N/A |
INTRINSIC |
low complexity region
|
510 |
520 |
N/A |
INTRINSIC |
low complexity region
|
620 |
629 |
N/A |
INTRINSIC |
low complexity region
|
751 |
770 |
N/A |
INTRINSIC |
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086549
|
SMART Domains |
Protein: ENSMUSP00000083736 Gene: ENSMUSG00000066938
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
43 |
72 |
N/A |
INTRINSIC |
low complexity region
|
75 |
84 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223878
AA Change: Y429C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224002
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224676
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224966
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225018
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225658
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225548
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225223
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
C |
5: 8,977,826 (GRCm39) |
I468T |
possibly damaging |
Het |
Actmap |
A |
G |
7: 26,903,298 (GRCm39) |
E289G |
probably damaging |
Het |
Anxa13 |
A |
G |
15: 58,205,397 (GRCm39) |
|
noncoding transcript |
Het |
Bdh1 |
T |
C |
16: 31,275,433 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,817,473 (GRCm39) |
|
probably benign |
Het |
Dld |
G |
T |
12: 31,383,916 (GRCm39) |
H396N |
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,319 (GRCm39) |
V942A |
probably damaging |
Het |
Eln |
A |
T |
5: 134,745,908 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 15,908,271 (GRCm39) |
T2577M |
possibly damaging |
Het |
Gad1 |
A |
T |
2: 70,403,125 (GRCm39) |
K73M |
possibly damaging |
Het |
Gipc1 |
T |
C |
8: 84,389,780 (GRCm39) |
V253A |
probably damaging |
Het |
Gtpbp10 |
A |
C |
5: 5,593,372 (GRCm39) |
|
probably benign |
Het |
Hgf |
A |
T |
5: 16,766,049 (GRCm39) |
T62S |
probably benign |
Het |
Hivep1 |
T |
C |
13: 42,311,161 (GRCm39) |
S1134P |
probably damaging |
Het |
Hnrnpc |
A |
G |
14: 52,321,574 (GRCm39) |
L80S |
probably damaging |
Het |
Kif20a |
G |
A |
18: 34,765,076 (GRCm39) |
R770H |
probably damaging |
Het |
Lcat |
T |
C |
8: 106,666,401 (GRCm39) |
T374A |
possibly damaging |
Het |
Mlana |
A |
G |
19: 29,682,018 (GRCm39) |
|
probably null |
Het |
Nhsl3 |
C |
T |
4: 129,116,112 (GRCm39) |
G851R |
probably damaging |
Het |
Nynrin |
A |
G |
14: 56,100,716 (GRCm39) |
I169V |
possibly damaging |
Het |
Or2ag15 |
A |
T |
7: 106,340,555 (GRCm39) |
Y195* |
probably null |
Het |
P3h3 |
A |
G |
6: 124,822,228 (GRCm39) |
V585A |
possibly damaging |
Het |
Pcdhb17 |
T |
A |
18: 37,619,614 (GRCm39) |
M468K |
probably benign |
Het |
Prl8a2 |
T |
G |
13: 27,536,780 (GRCm39) |
I134S |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,738,730 (GRCm39) |
V2828A |
probably damaging |
Het |
Rhbdd1 |
G |
T |
1: 82,320,504 (GRCm39) |
V163F |
probably benign |
Het |
Rrp1 |
A |
G |
10: 78,248,773 (GRCm39) |
V5A |
probably benign |
Het |
Sephs1 |
A |
T |
2: 4,889,366 (GRCm39) |
N48I |
probably benign |
Het |
Speer4a3 |
T |
A |
5: 26,158,205 (GRCm39) |
H49L |
probably benign |
Het |
Vmn1r71 |
A |
G |
7: 10,482,242 (GRCm39) |
Y149H |
probably benign |
Het |
Wiz |
T |
C |
17: 32,578,324 (GRCm39) |
D396G |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,345,015 (GRCm39) |
S2419G |
possibly damaging |
Het |
Zfp128 |
A |
G |
7: 12,618,606 (GRCm39) |
T35A |
possibly damaging |
Het |
Zmym2 |
T |
A |
14: 57,148,772 (GRCm39) |
F362Y |
probably damaging |
Het |
|
Other mutations in Arhgef33 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00783:Arhgef33
|
APN |
17 |
80,675,659 (GRCm39) |
missense |
probably benign |
0.33 |
IGL00784:Arhgef33
|
APN |
17 |
80,675,659 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01601:Arhgef33
|
APN |
17 |
80,655,112 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01647:Arhgef33
|
APN |
17 |
80,672,695 (GRCm39) |
splice site |
probably benign |
|
IGL02712:Arhgef33
|
APN |
17 |
80,667,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R0195:Arhgef33
|
UTSW |
17 |
80,688,863 (GRCm39) |
missense |
probably damaging |
0.96 |
R0732:Arhgef33
|
UTSW |
17 |
80,688,783 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0834:Arhgef33
|
UTSW |
17 |
80,655,026 (GRCm39) |
splice site |
probably benign |
|
R1144:Arhgef33
|
UTSW |
17 |
80,662,473 (GRCm39) |
missense |
probably benign |
|
R1465:Arhgef33
|
UTSW |
17 |
80,674,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1465:Arhgef33
|
UTSW |
17 |
80,674,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1513:Arhgef33
|
UTSW |
17 |
80,678,818 (GRCm39) |
missense |
probably benign |
|
R1680:Arhgef33
|
UTSW |
17 |
80,655,080 (GRCm39) |
missense |
probably damaging |
0.96 |
R1696:Arhgef33
|
UTSW |
17 |
80,656,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:Arhgef33
|
UTSW |
17 |
80,681,172 (GRCm39) |
missense |
probably benign |
0.05 |
R2046:Arhgef33
|
UTSW |
17 |
80,680,895 (GRCm39) |
missense |
probably benign |
0.08 |
R3933:Arhgef33
|
UTSW |
17 |
80,680,749 (GRCm39) |
missense |
probably benign |
0.01 |
R4573:Arhgef33
|
UTSW |
17 |
80,672,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R5222:Arhgef33
|
UTSW |
17 |
80,644,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R5269:Arhgef33
|
UTSW |
17 |
80,677,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R5933:Arhgef33
|
UTSW |
17 |
80,644,709 (GRCm39) |
missense |
probably benign |
|
R6460:Arhgef33
|
UTSW |
17 |
80,657,018 (GRCm39) |
splice site |
probably null |
|
R7307:Arhgef33
|
UTSW |
17 |
80,654,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7594:Arhgef33
|
UTSW |
17 |
80,677,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R7746:Arhgef33
|
UTSW |
17 |
80,654,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7895:Arhgef33
|
UTSW |
17 |
80,680,914 (GRCm39) |
missense |
probably benign |
0.00 |
R7956:Arhgef33
|
UTSW |
17 |
80,662,477 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8508:Arhgef33
|
UTSW |
17 |
80,674,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R8688:Arhgef33
|
UTSW |
17 |
80,680,615 (GRCm39) |
missense |
probably damaging |
0.96 |
R8743:Arhgef33
|
UTSW |
17 |
80,667,882 (GRCm39) |
critical splice donor site |
probably null |
|
R8768:Arhgef33
|
UTSW |
17 |
80,681,148 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9322:Arhgef33
|
UTSW |
17 |
80,677,818 (GRCm39) |
nonsense |
probably null |
|
R9349:Arhgef33
|
UTSW |
17 |
80,644,736 (GRCm39) |
nonsense |
probably null |
|
R9625:Arhgef33
|
UTSW |
17 |
80,654,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9727:Arhgef33
|
UTSW |
17 |
80,678,720 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Arhgef33
|
UTSW |
17 |
80,691,659 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-04-16 |