Incidental Mutation 'IGL01647:Arhgef33'
| ID |
102729 |
| 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 # |
IGL01647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
80614836-80707510 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 80672695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068175]
[ENSMUST00000223878]
|
| AlphaFold |
Q8BW86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068175
|
| SMART Domains |
Protein: ENSMUSP00000063284
Gene: ENSMUSG00000054901
| 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: ENSMUST00000223878
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,097 (GRCm39) |
D191V |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,498,156 (GRCm39) |
D382G |
probably damaging |
Het |
| Armc10 |
A |
G |
5: 21,851,091 (GRCm39) |
|
probably benign |
Het |
| Bcas1 |
T |
A |
2: 170,191,172 (GRCm39) |
Q586L |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,609,982 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
C |
11: 29,454,321 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
A |
2: 155,825,296 (GRCm39) |
C1057S |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,688,087 (GRCm39) |
M14K |
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,868,593 (GRCm39) |
Y1463H |
possibly damaging |
Het |
| Garin3 |
G |
T |
11: 46,296,224 (GRCm39) |
E199* |
probably null |
Het |
| Gck |
A |
T |
11: 5,854,472 (GRCm39) |
M251K |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,525,570 (GRCm39) |
P14S |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,230,275 (GRCm39) |
K748* |
probably null |
Het |
| Kif15 |
T |
A |
9: 122,792,536 (GRCm39) |
|
probably benign |
Het |
| Ly6g6f |
A |
G |
17: 35,299,817 (GRCm39) |
|
probably benign |
Het |
| Mrps30 |
C |
T |
13: 118,517,146 (GRCm39) |
G358R |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,307,801 (GRCm39) |
|
probably benign |
Het |
| Or5m3b |
C |
T |
2: 85,872,441 (GRCm39) |
P261S |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,688,477 (GRCm39) |
I107F |
possibly damaging |
Het |
| Pcnt |
T |
A |
10: 76,205,835 (GRCm39) |
K2506* |
probably null |
Het |
| Pgc |
G |
T |
17: 48,043,329 (GRCm39) |
G226W |
probably damaging |
Het |
| Pip5k1a |
C |
T |
3: 94,981,383 (GRCm39) |
V82M |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,987,554 (GRCm39) |
V466A |
probably damaging |
Het |
| Prss44 |
C |
A |
9: 110,643,745 (GRCm39) |
Q130K |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,165,152 (GRCm39) |
Y66C |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,730,081 (GRCm39) |
E189G |
probably benign |
Het |
| Rtn4r |
G |
T |
16: 17,969,190 (GRCm39) |
R206L |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,600,366 (GRCm39) |
G4613E |
probably damaging |
Het |
| Sema5a |
T |
G |
15: 32,417,587 (GRCm39) |
L19R |
possibly damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,957,653 (GRCm39) |
T139A |
possibly damaging |
Het |
| Slco2a1 |
T |
G |
9: 102,947,495 (GRCm39) |
S265A |
possibly damaging |
Het |
| Smad4 |
A |
G |
18: 73,773,544 (GRCm39) |
|
probably benign |
Het |
| St13 |
C |
T |
15: 81,255,708 (GRCm39) |
R240Q |
probably damaging |
Het |
| Tcea3 |
A |
C |
4: 136,002,087 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,600 (GRCm39) |
Y92C |
probably damaging |
Het |
| Wnt8b |
A |
T |
19: 44,499,704 (GRCm39) |
D151V |
probably damaging |
Het |
| Zfp426 |
T |
A |
9: 20,389,453 (GRCm39) |
M1L |
possibly 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 |
|
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 |
2014-01-21 |
Incidental Mutation