Incidental Mutation 'R5299:Traf3ip3'
| ID |
405555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf3ip3
|
| Ensembl Gene |
ENSMUSG00000037318 |
| Gene Name |
TRAF3 interacting protein 3 |
| Synonyms |
6030423D04Rik |
| MMRRC Submission |
042882-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5299 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
192857812-192883854 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 192860483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 480
(K480*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043550]
[ENSMUST00000110831]
[ENSMUST00000160077]
[ENSMUST00000160822]
[ENSMUST00000161235]
[ENSMUST00000192020]
[ENSMUST00000193307]
[ENSMUST00000178744]
[ENSMUST00000191613]
[ENSMUST00000192189]
[ENSMUST00000194278]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043550
AA Change: K480*
|
| SMART Domains |
Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: K480*
| 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: ENSMUST00000110831
|
| SMART Domains |
Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
263 |
1.4e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160077
|
| SMART Domains |
Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
163 |
6.7e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160302
|
| 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 |
probably benign
Transcript: ENSMUST00000161235
|
| SMART Domains |
Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
263 |
1.4e-83 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192020
AA Change: K480*
|
| SMART Domains |
Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: K480*
| 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: ENSMUST00000193307
|
| SMART Domains |
Protein: ENSMUSP00000142273
Gene: ENSMUSG00000079144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
84 |
3.4e-18 |
PFAM |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191613
|
| SMART Domains |
Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
70 |
7.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192189
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,381,861 (GRCm39) |
I3838V |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,537 (GRCm39) |
D1231E |
unknown |
Het |
| Atxn1 |
A |
T |
13: 45,710,730 (GRCm39) |
I734K |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,392,708 (GRCm39) |
S330G |
probably damaging |
Het |
| Bend3 |
G |
A |
10: 43,369,686 (GRCm39) |
|
probably null |
Het |
| Chodl |
C |
T |
16: 78,738,296 (GRCm39) |
T88I |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dst |
A |
G |
1: 34,174,173 (GRCm39) |
I179M |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,055,901 (GRCm39) |
|
probably null |
Het |
| Grk2 |
T |
C |
19: 4,342,799 (GRCm39) |
E45G |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,745,119 (GRCm39) |
Y144C |
probably damaging |
Het |
| Ighv1-15 |
T |
C |
12: 114,620,998 (GRCm39) |
D109G |
probably damaging |
Het |
| Igtp |
T |
C |
11: 58,097,959 (GRCm39) |
W377R |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map2k6 |
A |
G |
11: 110,383,789 (GRCm39) |
D145G |
probably benign |
Het |
| Mcph1 |
T |
C |
8: 18,702,596 (GRCm39) |
|
probably benign |
Het |
| Mdfi |
A |
G |
17: 48,131,759 (GRCm39) |
V95A |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 120,936,473 (GRCm39) |
L1351P |
possibly damaging |
Het |
| Nbas |
C |
T |
12: 13,491,926 (GRCm39) |
Q1506* |
probably null |
Het |
| Nelfb |
A |
G |
2: 25,100,757 (GRCm39) |
V128A |
probably benign |
Het |
| Otog |
A |
G |
7: 45,938,275 (GRCm39) |
T1995A |
probably benign |
Het |
| Ppp1r7 |
A |
T |
1: 93,280,348 (GRCm39) |
I139L |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,768,340 (GRCm39) |
D19G |
probably benign |
Het |
| Proca1 |
T |
C |
11: 78,096,078 (GRCm39) |
S150P |
probably damaging |
Het |
| Rhof |
A |
G |
5: 123,258,611 (GRCm39) |
V100A |
probably damaging |
Het |
| Rsbn1 |
G |
C |
3: 103,821,806 (GRCm39) |
G14R |
probably benign |
Het |
| Serinc1 |
A |
G |
10: 57,399,147 (GRCm39) |
I252T |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,993,203 (GRCm39) |
I309F |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,078,417 (GRCm39) |
Y815C |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,073,668 (GRCm39) |
S424G |
probably benign |
Het |
| Spint2 |
G |
A |
7: 28,963,151 (GRCm39) |
A49V |
probably damaging |
Het |
| Ube2g2 |
T |
C |
10: 77,480,379 (GRCm39) |
S162P |
possibly damaging |
Het |
| Ubxn8 |
C |
A |
8: 34,131,947 (GRCm39) |
V7L |
possibly damaging |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,945 (GRCm39) |
C249* |
probably null |
Het |
| Vmn1r38 |
T |
A |
6: 66,753,682 (GRCm39) |
T145S |
probably benign |
Het |
| Wapl |
G |
A |
14: 34,455,765 (GRCm39) |
|
probably null |
Het |
| Wfdc6a |
T |
C |
2: 164,422,311 (GRCm39) |
N96S |
possibly damaging |
Het |
| Zfp503 |
A |
G |
14: 22,035,507 (GRCm39) |
S470P |
probably benign |
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 |
|
R4087: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 |
|
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'- AATGAACACTTGTGGTCATCCAG -3'
(R):5'- GCAAATGCTAAGGGTTCTCACG -3'
Sequencing Primer
(F):5'- GTGGTCATCCAGTAACAATTTAAGC -3'
(R):5'- TGCTAAGGGTTCTCACGAAGCATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation