Incidental Mutation 'R5442:Rab3ip'
| ID |
427236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab3ip
|
| Ensembl Gene |
ENSMUSG00000064181 |
| Gene Name |
RAB3A interacting protein |
| Synonyms |
Rabin3, Gtpat12, SSX2 interacting protein |
| MMRRC Submission |
043007-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5442 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
116741685-116786361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116754753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 268
(T268A)
|
| 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: T236A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: T236A
| 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: T268A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219570
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,909,594 (GRCm39) |
M114T |
probably benign |
Het |
| Ablim3 |
A |
T |
18: 61,990,296 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,340,709 (GRCm39) |
D238G |
probably benign |
Het |
| Astn2 |
G |
T |
4: 65,500,023 (GRCm39) |
S955R |
possibly damaging |
Het |
| Casc3 |
A |
G |
11: 98,712,297 (GRCm39) |
E112G |
probably damaging |
Het |
| Cetn4 |
C |
T |
3: 37,364,094 (GRCm39) |
V39I |
probably benign |
Het |
| Commd4 |
A |
G |
9: 57,064,090 (GRCm39) |
V37A |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,696,643 (GRCm39) |
Q205R |
possibly damaging |
Het |
| Gal3st4 |
A |
G |
5: 138,264,042 (GRCm39) |
V319A |
possibly damaging |
Het |
| Inpp5d |
G |
A |
1: 87,645,788 (GRCm39) |
A1058T |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,746,936 (GRCm39) |
Y781C |
probably damaging |
Het |
| Lrat |
C |
T |
3: 82,810,527 (GRCm39) |
V165M |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,502,103 (GRCm39) |
S142P |
probably benign |
Het |
| Oas1a |
T |
C |
5: 121,035,269 (GRCm39) |
T349A |
probably benign |
Het |
| Or52e8 |
A |
T |
7: 104,624,435 (GRCm39) |
F252L |
possibly damaging |
Het |
| Or5m3b |
T |
C |
2: 85,872,295 (GRCm39) |
V212A |
probably benign |
Het |
| Or5v1 |
A |
T |
17: 37,810,330 (GRCm39) |
I263F |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,261,158 (GRCm39) |
S260T |
probably benign |
Het |
| Pakap |
C |
A |
4: 57,637,876 (GRCm39) |
P18Q |
probably null |
Het |
| Pcdha2 |
T |
C |
18: 37,072,915 (GRCm39) |
V182A |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 177,784,254 (GRCm39) |
D26G |
probably benign |
Het |
| Phrf1 |
G |
A |
7: 140,820,850 (GRCm39) |
R159H |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,656,742 (GRCm39) |
D299G |
probably damaging |
Het |
| Rem1 |
A |
G |
2: 152,469,977 (GRCm39) |
|
probably null |
Het |
| Slc28a2b |
A |
G |
2: 122,317,350 (GRCm39) |
N36S |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,293,473 (GRCm39) |
M1286T |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,748,799 (GRCm39) |
T52A |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,872 (GRCm39) |
F390Y |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,856,280 (GRCm39) |
D696G |
probably benign |
Het |
| Ttll11 |
T |
C |
2: 35,793,135 (GRCm39) |
*191W |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,135,083 (GRCm39) |
D805G |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,336,467 (GRCm39) |
I1469T |
possibly damaging |
Het |
| Vmn1r70 |
G |
T |
7: 10,367,877 (GRCm39) |
A122S |
possibly damaging |
Het |
| Vmn2r78 |
G |
T |
7: 86,569,330 (GRCm39) |
L74F |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,044,425 (GRCm39) |
E1860G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAAAGAAGTCTGCTGGCC -3'
(R):5'- TCGCCAAGTTGCTAGCATTGG -3'
Sequencing Primer
(F):5'- TAAAGAAGTCTGCTGGCCACCTC -3'
(R):5'- AAGTTGCTAGCATTGGCCACATC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation