Incidental Mutation 'IGL00784:Arhgef33'
| ID |
277948 |
| 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: 0.076)
|
| Stock # |
IGL00784
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
80614836-80707510 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80675659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 403
(I403L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068175]
[ENSMUST00000086549]
[ENSMUST00000223878]
|
| AlphaFold |
Q8BW86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068175
AA Change: I403L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000063284
Gene: ENSMUSG00000054901
AA Change: I403L
| 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 benign
Transcript: ENSMUST00000223878
AA Change: I403L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225018
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,069,525 (GRCm39) |
|
probably benign |
Het |
| Cd4 |
A |
G |
6: 124,849,952 (GRCm39) |
V121A |
possibly damaging |
Het |
| Cep89 |
T |
A |
7: 35,105,132 (GRCm39) |
V132E |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,550,166 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,520,067 (GRCm39) |
F482L |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,882,863 (GRCm39) |
H659Q |
probably benign |
Het |
| Jhy |
T |
C |
9: 40,834,048 (GRCm39) |
T291A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,458,831 (GRCm39) |
|
probably benign |
Het |
| Ncaph2 |
A |
G |
15: 89,254,243 (GRCm39) |
D367G |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,315,846 (GRCm39) |
F279I |
probably damaging |
Het |
| Oas2 |
A |
G |
5: 120,876,428 (GRCm39) |
F15S |
probably damaging |
Het |
| Pold2 |
T |
C |
11: 5,822,412 (GRCm39) |
E419G |
probably benign |
Het |
| Scn7a |
T |
G |
2: 66,522,908 (GRCm39) |
E932A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 59,027,688 (GRCm39) |
S73P |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,379,494 (GRCm39) |
D120G |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,647,596 (GRCm39) |
G1512E |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,847,046 (GRCm39) |
D2610Y |
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 |
|
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 |
|
|
IGL02654:Arhgef33
|
APN |
17 |
80,677,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation