Incidental Mutation 'IGL01912:Rab3ip'
| ID |
179834 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab3ip
|
| Ensembl Gene |
ENSMUSG00000064181 |
| Gene Name |
RAB3A interacting protein |
| Synonyms |
Rabin3, Gtpat12, SSX2 interacting protein |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01912
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116741685-116786361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 116742997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 443
(Q443K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020375]
[ENSMUST00000219109]
|
| AlphaFold |
Q68EF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020375
AA Change: Q411K
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: Q411K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
PDB:4LHZ|F
|
157 |
200 |
9e-15 |
PDB |
|
low complexity region
|
213 |
220 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219109
AA Change: Q443K
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice are fertile and show no obvious abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
T |
7: 45,769,934 (GRCm39) |
D860E |
probably damaging |
Het |
| Actl11 |
C |
A |
9: 107,806,844 (GRCm39) |
P389Q |
probably damaging |
Het |
| Bsg |
G |
T |
10: 79,545,974 (GRCm39) |
G103W |
probably null |
Het |
| Camk2d |
T |
A |
3: 126,604,281 (GRCm39) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,371,983 (GRCm39) |
|
probably benign |
Het |
| Dctd |
C |
T |
8: 48,564,697 (GRCm39) |
|
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,303,229 (GRCm39) |
I289T |
probably damaging |
Het |
| Exoc6b |
A |
C |
6: 84,602,156 (GRCm39) |
C753G |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm3633 |
T |
C |
14: 42,462,743 (GRCm39) |
|
probably benign |
Het |
| Hrh3 |
A |
T |
2: 179,743,169 (GRCm39) |
V153D |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,772,286 (GRCm39) |
|
probably benign |
Het |
| Nat3 |
T |
A |
8: 68,000,398 (GRCm39) |
C92* |
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,382,573 (GRCm39) |
L525M |
probably benign |
Het |
| Nrp2 |
T |
A |
1: 62,810,896 (GRCm39) |
C646S |
probably damaging |
Het |
| Or10a3m |
T |
C |
7: 108,313,465 (GRCm39) |
Y290H |
possibly damaging |
Het |
| Or2ag16 |
T |
A |
7: 106,352,199 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,440 (GRCm39) |
I177T |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,447,941 (GRCm39) |
Y63H |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,400,466 (GRCm39) |
V1059A |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,353,113 (GRCm39) |
V235A |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,926,977 (GRCm39) |
D850Y |
probably damaging |
Het |
| Ubxn2b |
T |
A |
4: 6,203,767 (GRCm39) |
|
probably null |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,467 (GRCm39) |
Y161F |
probably benign |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,442 (GRCm39) |
S119P |
probably damaging |
Het |
|
| Other mutations in Rab3ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01946:Rab3ip
|
APN |
10 |
116,773,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02665:Rab3ip
|
APN |
10 |
116,773,453 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1538:Rab3ip
|
UTSW |
10 |
116,775,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Rab3ip
|
UTSW |
10 |
116,775,128 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1760:Rab3ip
|
UTSW |
10 |
116,773,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Rab3ip
|
UTSW |
10 |
116,754,865 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4441:Rab3ip
|
UTSW |
10 |
116,751,837 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5442:Rab3ip
|
UTSW |
10 |
116,754,753 (GRCm39) |
missense |
probably benign |
|
|
R5526:Rab3ip
|
UTSW |
10 |
116,754,834 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5682:Rab3ip
|
UTSW |
10 |
116,743,008 (GRCm39) |
nonsense |
probably null |
|
|
R5921:Rab3ip
|
UTSW |
10 |
116,775,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Rab3ip
|
UTSW |
10 |
116,751,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Rab3ip
|
UTSW |
10 |
116,775,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Rab3ip
|
UTSW |
10 |
116,773,441 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7326:Rab3ip
|
UTSW |
10 |
116,773,538 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7408:Rab3ip
|
UTSW |
10 |
116,773,546 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7655:Rab3ip
|
UTSW |
10 |
116,750,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7656:Rab3ip
|
UTSW |
10 |
116,750,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8363:Rab3ip
|
UTSW |
10 |
116,754,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8537:Rab3ip
|
UTSW |
10 |
116,746,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Rab3ip
|
UTSW |
10 |
116,775,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9086:Rab3ip
|
UTSW |
10 |
116,775,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Rab3ip
|
UTSW |
10 |
116,750,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Rab3ip
|
UTSW |
10 |
116,775,354 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R9563:Rab3ip
|
UTSW |
10 |
116,754,668 (GRCm39) |
missense |
probably null |
1.00 |
|
R9564:Rab3ip
|
UTSW |
10 |
116,751,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation