Incidental Mutation 'IGL02712:Arhgef33'
| ID |
304600 |
| 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 # |
IGL02712
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
80614836-80707510 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80667802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 289
(V289D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068175]
[ENSMUST00000223878]
|
| AlphaFold |
Q8BW86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068175
AA Change: V289D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063284
Gene: ENSMUSG00000054901
AA Change: V289D
| 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 damaging
Transcript: ENSMUST00000223878
AA Change: V289D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225018
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angel1 |
A |
G |
12: 86,769,613 (GRCm39) |
|
probably benign |
Het |
| Cabp5 |
A |
G |
7: 13,137,271 (GRCm39) |
M93V |
probably damaging |
Het |
| Ces1a |
A |
C |
8: 93,762,668 (GRCm39) |
V201G |
probably damaging |
Het |
| Cisd1 |
A |
G |
10: 71,172,181 (GRCm39) |
F34L |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,688,426 (GRCm39) |
L316P |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,448,386 (GRCm39) |
I213V |
probably benign |
Het |
| Ddx59 |
A |
T |
1: 136,367,519 (GRCm39) |
N542I |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,703,581 (GRCm39) |
T233A |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,860,302 (GRCm39) |
T49A |
possibly damaging |
Het |
| Fmnl2 |
C |
A |
2: 52,926,510 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,194,225 (GRCm39) |
K610N |
probably damaging |
Het |
| Hipk4 |
T |
C |
7: 27,228,060 (GRCm39) |
Y269H |
probably damaging |
Het |
| Ifi209 |
T |
C |
1: 173,470,267 (GRCm39) |
V285A |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Map3k13 |
T |
G |
16: 21,724,005 (GRCm39) |
V329G |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,134,683 (GRCm39) |
W29R |
possibly damaging |
Het |
| Nherf1 |
T |
C |
11: 115,068,060 (GRCm39) |
V200A |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,156,820 (GRCm39) |
I213V |
possibly damaging |
Het |
| Nphp4 |
C |
T |
4: 152,640,732 (GRCm39) |
T1033M |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,868,266 (GRCm39) |
|
probably null |
Het |
| Nrcam |
A |
G |
12: 44,620,610 (GRCm39) |
Y885C |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,262,107 (GRCm39) |
|
probably null |
Het |
| Or1e17 |
T |
C |
11: 73,831,756 (GRCm39) |
V228A |
probably benign |
Het |
| Or8b57 |
T |
C |
9: 40,004,082 (GRCm39) |
H60R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,893,829 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,376,113 (GRCm39) |
S1341G |
probably benign |
Het |
| Pld2 |
T |
G |
11: 70,447,905 (GRCm39) |
L856R |
probably benign |
Het |
| Plod1 |
A |
G |
4: 148,003,344 (GRCm39) |
F494L |
possibly damaging |
Het |
| Pnkd |
T |
A |
1: 74,389,027 (GRCm39) |
S233T |
possibly damaging |
Het |
| Rnf144b |
T |
C |
13: 47,393,255 (GRCm39) |
I198T |
probably damaging |
Het |
| Rsc1a1 |
G |
T |
4: 141,412,376 (GRCm39) |
Q179K |
probably benign |
Het |
| Slc5a10 |
C |
T |
11: 61,598,632 (GRCm39) |
W249* |
probably null |
Het |
| Spata32 |
T |
G |
11: 103,098,973 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,938,817 (GRCm39) |
H228Q |
probably damaging |
Het |
| Szt2 |
T |
A |
4: 118,242,030 (GRCm39) |
Q1592L |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,893,493 (GRCm39) |
I1598F |
probably damaging |
Het |
| Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
| Ttll6 |
T |
G |
11: 96,030,601 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
A |
G |
17: 55,899,655 (GRCm39) |
S750P |
probably benign |
Het |
| Zswim5 |
C |
T |
4: 116,842,892 (GRCm39) |
T879I |
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 |
|
|
IGL02654:Arhgef33
|
APN |
17 |
80,677,740 (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