Incidental Mutation 'IGL01946:Rab3ip'
| ID |
180972 |
| 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 # |
IGL01946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116741685-116786361 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 116773300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020375]
[ENSMUST00000218391]
[ENSMUST00000219109]
[ENSMUST00000219603]
|
| AlphaFold |
Q68EF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020375
|
| SMART Domains |
Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
| 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: ENSMUST00000218391
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219109
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219603
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,547,442 (GRCm39) |
E343K |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,571,763 (GRCm39) |
I1087V |
probably benign |
Het |
| Bcam |
A |
C |
7: 19,494,042 (GRCm39) |
Y416* |
probably null |
Het |
| Bhlhe22 |
T |
A |
3: 18,109,960 (GRCm39) |
C337S |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,223,364 (GRCm39) |
D119G |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,909,825 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,312 (GRCm39) |
D1840G |
probably damaging |
Het |
| Dhx16 |
G |
T |
17: 36,196,396 (GRCm39) |
M521I |
probably benign |
Het |
| Dnaja2 |
A |
G |
8: 86,273,329 (GRCm39) |
I196T |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,811,369 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm3371 |
A |
G |
14: 44,646,178 (GRCm39) |
Y96H |
probably damaging |
Het |
| H2-T10 |
G |
A |
17: 36,431,608 (GRCm39) |
A82V |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,217,350 (GRCm39) |
T1413A |
possibly damaging |
Het |
| Krt23 |
T |
A |
11: 99,383,665 (GRCm39) |
M76L |
possibly damaging |
Het |
| Lipe |
A |
T |
7: 25,082,701 (GRCm39) |
M504K |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,759 (GRCm39) |
R560S |
probably benign |
Het |
| Lta4h |
T |
A |
10: 93,307,232 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,877,522 (GRCm39) |
T348A |
probably damaging |
Het |
| Mybpc2 |
C |
A |
7: 44,159,322 (GRCm39) |
|
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,227,734 (GRCm39) |
|
probably null |
Het |
| Or52r1b |
T |
A |
7: 102,691,357 (GRCm39) |
S219T |
probably damaging |
Het |
| Pdp2 |
G |
A |
8: 105,320,824 (GRCm39) |
M224I |
probably benign |
Het |
| Pimreg |
C |
T |
11: 71,935,804 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
A |
T |
3: 28,178,766 (GRCm39) |
S887C |
probably damaging |
Het |
| Ppp1r3g |
G |
A |
13: 36,152,978 (GRCm39) |
A133T |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,390,818 (GRCm39) |
G1323D |
probably damaging |
Het |
| Rpain |
A |
G |
11: 70,861,358 (GRCm39) |
H9R |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,110,490 (GRCm39) |
|
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,855,369 (GRCm39) |
T348A |
probably benign |
Het |
| Smad3 |
A |
G |
9: 63,664,835 (GRCm39) |
L42P |
probably damaging |
Het |
| Smr3a |
C |
T |
5: 88,156,014 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
G |
A |
5: 109,322,085 (GRCm39) |
T204I |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,660,561 (GRCm39) |
N1272D |
probably damaging |
Het |
|
| Other mutations in Rab3ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01912:Rab3ip
|
APN |
10 |
116,742,997 (GRCm39) |
missense |
probably benign |
0.09 |
|
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