Incidental Mutation 'R4087:Traf3ip3'
ID |
317404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Traf3ip3
|
Ensembl Gene |
ENSMUSG00000037318 |
Gene Name |
TRAF3 interacting protein 3 |
Synonyms |
6030423D04Rik |
MMRRC Submission |
040980-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4087 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
192857812-192883854 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 192863628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 414
(V414A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043550]
[ENSMUST00000159666]
[ENSMUST00000160822]
[ENSMUST00000192020]
[ENSMUST00000194278]
[ENSMUST00000178744]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043550
AA Change: V414A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040977 Gene: ENSMUSG00000037318 AA Change: V414A
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
coiled coil region
|
279 |
486 |
N/A |
INTRINSIC |
transmembrane domain
|
487 |
506 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159666
|
Predicted Effect |
unknown
Transcript: ENSMUST00000160302
AA Change: V116A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160332
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160822
|
SMART Domains |
Protein: ENSMUSP00000124546 Gene: ENSMUSG00000079144
Domain | Start | End | E-Value | Type |
Pfam:DUF4504
|
15 |
263 |
2.7e-75 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161403
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162480
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192020
AA Change: V414A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141698 Gene: ENSMUSG00000037318 AA Change: V414A
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
coiled coil region
|
279 |
486 |
N/A |
INTRINSIC |
transmembrane domain
|
487 |
506 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194278
|
SMART Domains |
Protein: ENSMUSP00000141661 Gene: ENSMUSG00000037318
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178744
|
SMART Domains |
Protein: ENSMUSP00000136653 Gene: ENSMUSG00000079144
Domain | Start | End | E-Value | Type |
Pfam:DUF4504
|
13 |
263 |
1.4e-83 |
PFAM |
|
Meta Mutation Damage Score |
0.0970 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.3%
|
Validation Efficiency |
96% (50/52) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired single positive thymocyte development and increased gamma-delta T cell numbers. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
Col6a6 |
A |
T |
9: 105,661,155 (GRCm39) |
I318N |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Dym |
T |
A |
18: 75,363,172 (GRCm39) |
Y559N |
probably damaging |
Het |
Eif3g |
A |
G |
9: 20,809,248 (GRCm39) |
V59A |
possibly damaging |
Het |
Fam171a1 |
G |
A |
2: 3,227,333 (GRCm39) |
R697Q |
probably damaging |
Het |
Fermt3 |
T |
A |
19: 6,980,945 (GRCm39) |
|
probably null |
Het |
Git2 |
A |
G |
5: 114,902,466 (GRCm39) |
Y189H |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm7713 |
C |
T |
15: 59,866,258 (GRCm39) |
|
noncoding transcript |
Het |
Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
Itprid2 |
C |
T |
2: 79,488,691 (GRCm39) |
Q925* |
probably null |
Het |
Kcnh8 |
T |
C |
17: 53,110,428 (GRCm39) |
I213T |
possibly damaging |
Het |
Lpgat1 |
A |
T |
1: 191,495,728 (GRCm39) |
I306F |
possibly damaging |
Het |
Mapk8 |
T |
C |
14: 33,112,205 (GRCm39) |
T228A |
probably benign |
Het |
Med12l |
T |
C |
3: 59,205,342 (GRCm39) |
V2101A |
probably benign |
Het |
Mettl13 |
T |
C |
1: 162,375,771 (GRCm39) |
K19E |
possibly damaging |
Het |
Mta1 |
A |
G |
12: 113,075,802 (GRCm39) |
Y22C |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,377,087 (GRCm39) |
T273A |
possibly damaging |
Het |
Notch4 |
T |
C |
17: 34,803,409 (GRCm39) |
W1443R |
probably damaging |
Het |
Npy5r |
T |
A |
8: 67,134,697 (GRCm39) |
D32V |
probably damaging |
Het |
Or8k36-ps1 |
C |
A |
2: 86,437,297 (GRCm39) |
*206L |
probably null |
Het |
Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
Rnf144a |
C |
T |
12: 26,377,591 (GRCm39) |
V51I |
probably damaging |
Het |
Rxfp1 |
T |
A |
3: 79,552,256 (GRCm39) |
T682S |
probably damaging |
Het |
Sertad2 |
GCCCC |
GCCCCC |
11: 20,598,664 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
Tdrd9 |
C |
T |
12: 111,979,920 (GRCm39) |
Q256* |
probably null |
Het |
Tmprss11d |
A |
T |
5: 86,457,138 (GRCm39) |
S174T |
probably damaging |
Het |
Tor1b |
T |
A |
2: 30,846,531 (GRCm39) |
I238N |
probably damaging |
Het |
Tppp2 |
T |
C |
14: 52,156,957 (GRCm39) |
|
probably null |
Het |
Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
Usp48 |
A |
G |
4: 137,350,651 (GRCm39) |
N46S |
possibly damaging |
Het |
Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
Zfp106 |
T |
C |
2: 120,357,380 (GRCm39) |
|
probably null |
Het |
Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
|
Other mutations in Traf3ip3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Traf3ip3
|
APN |
1 |
192,877,128 (GRCm39) |
intron |
probably benign |
|
IGL00663:Traf3ip3
|
APN |
1 |
192,869,446 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01125:Traf3ip3
|
APN |
1 |
192,866,772 (GRCm39) |
splice site |
probably null |
|
IGL01308:Traf3ip3
|
APN |
1 |
192,867,199 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01608:Traf3ip3
|
APN |
1 |
192,869,418 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02225:Traf3ip3
|
APN |
1 |
192,877,408 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02432:Traf3ip3
|
APN |
1 |
192,866,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03102:Traf3ip3
|
APN |
1 |
192,877,385 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03179:Traf3ip3
|
APN |
1 |
192,876,676 (GRCm39) |
missense |
probably damaging |
1.00 |
Flare
|
UTSW |
1 |
192,877,119 (GRCm39) |
intron |
probably benign |
|
sunspot
|
UTSW |
1 |
192,876,823 (GRCm39) |
splice site |
probably null |
|
IGL02988:Traf3ip3
|
UTSW |
1 |
192,877,182 (GRCm39) |
splice site |
probably null |
|
R0110:Traf3ip3
|
UTSW |
1 |
192,860,539 (GRCm39) |
splice site |
probably null |
|
R0469:Traf3ip3
|
UTSW |
1 |
192,860,539 (GRCm39) |
splice site |
probably null |
|
R0510:Traf3ip3
|
UTSW |
1 |
192,860,539 (GRCm39) |
splice site |
probably null |
|
R0529:Traf3ip3
|
UTSW |
1 |
192,877,119 (GRCm39) |
intron |
probably benign |
|
R1165:Traf3ip3
|
UTSW |
1 |
192,866,786 (GRCm39) |
missense |
probably damaging |
0.99 |
R1559:Traf3ip3
|
UTSW |
1 |
192,860,599 (GRCm39) |
missense |
probably damaging |
0.99 |
R1729:Traf3ip3
|
UTSW |
1 |
192,864,201 (GRCm39) |
missense |
probably benign |
0.01 |
R1896:Traf3ip3
|
UTSW |
1 |
192,858,042 (GRCm39) |
missense |
probably benign |
|
R4085:Traf3ip3
|
UTSW |
1 |
192,863,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4086:Traf3ip3
|
UTSW |
1 |
192,863,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4088:Traf3ip3
|
UTSW |
1 |
192,863,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4090:Traf3ip3
|
UTSW |
1 |
192,863,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4258:Traf3ip3
|
UTSW |
1 |
192,880,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R4817:Traf3ip3
|
UTSW |
1 |
192,867,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R5299:Traf3ip3
|
UTSW |
1 |
192,860,483 (GRCm39) |
nonsense |
probably null |
|
R5906:Traf3ip3
|
UTSW |
1 |
192,880,314 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6268:Traf3ip3
|
UTSW |
1 |
192,880,344 (GRCm39) |
start gained |
probably benign |
|
R6374:Traf3ip3
|
UTSW |
1 |
192,864,318 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8155:Traf3ip3
|
UTSW |
1 |
192,860,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R8527:Traf3ip3
|
UTSW |
1 |
192,876,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R8536:Traf3ip3
|
UTSW |
1 |
192,876,823 (GRCm39) |
splice site |
probably null |
|
R8542:Traf3ip3
|
UTSW |
1 |
192,876,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R8946:Traf3ip3
|
UTSW |
1 |
192,869,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R9005:Traf3ip3
|
UTSW |
1 |
192,864,285 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCAGATGATCCCTCAGC -3'
(R):5'- CTGAAAGGACCCACTAGTGTGTG -3'
Sequencing Primer
(F):5'- GATGATCCCTCAGCCCAGC -3'
(R):5'- CCTGTGTGAATGCTGGCCTC -3'
|
Posted On |
2015-05-15 |