Incidental Mutation 'IGL02665:Rab3ip'
| ID |
302694 |
| 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 # |
IGL02665
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116741685-116786361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116773453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 120
(Q120L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020375]
[ENSMUST00000218391]
[ENSMUST00000219109]
[ENSMUST00000219603]
|
| AlphaFold |
Q68EF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020375
AA Change: Q120L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: Q120L
| 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 benign
Transcript: ENSMUST00000219109
AA Change: Q120L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219603
AA Change: Q120L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cenpc1 |
T |
C |
5: 86,194,262 (GRCm39) |
N168S |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,237,928 (GRCm39) |
|
probably benign |
Het |
| Defb20 |
A |
G |
2: 152,321,496 (GRCm39) |
Y91C |
probably damaging |
Het |
| Dio2 |
T |
C |
12: 90,696,427 (GRCm39) |
D187G |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 39,056,985 (GRCm39) |
R4227Q |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,823,407 (GRCm39) |
G6380D |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,039,962 (GRCm39) |
F9I |
possibly damaging |
Het |
| Havcr2 |
T |
A |
11: 46,370,221 (GRCm39) |
V216E |
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,694,838 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,130,600 (GRCm39) |
|
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,440,227 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
G |
A |
2: 25,656,416 (GRCm39) |
A99T |
possibly damaging |
Het |
| Lox |
T |
A |
18: 52,658,316 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,866,742 (GRCm39) |
S1000P |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,344,823 (GRCm39) |
F98S |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,443,996 (GRCm39) |
Y1835H |
probably damaging |
Het |
| Pnpla3 |
A |
G |
15: 84,055,406 (GRCm39) |
D104G |
probably benign |
Het |
| Ranbp6 |
T |
A |
19: 29,790,301 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Serpinb9g |
T |
C |
13: 33,679,086 (GRCm39) |
C319R |
possibly damaging |
Het |
| Ska3 |
T |
C |
14: 58,059,529 (GRCm39) |
K99E |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,140,075 (GRCm39) |
S1330R |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,215,205 (GRCm39) |
M396K |
probably damaging |
Het |
| Vmn2r87 |
T |
G |
10: 130,333,049 (GRCm39) |
D67A |
probably benign |
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 |
|
IGL01946:Rab3ip
|
APN |
10 |
116,773,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation