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 |