Incidental Mutation 'R1896:Traf3ip3'
| ID |
211953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf3ip3
|
| Ensembl Gene |
ENSMUSG00000037318 |
| Gene Name |
TRAF3 interacting protein 3 |
| Synonyms |
6030423D04Rik |
| MMRRC Submission |
039916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1896 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
192857812-192883854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 192858042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 492
(V492A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043550]
[ENSMUST00000076521]
[ENSMUST00000110831]
[ENSMUST00000160077]
[ENSMUST00000160822]
[ENSMUST00000192020]
[ENSMUST00000194278]
[ENSMUST00000161235]
[ENSMUST00000192189]
[ENSMUST00000178744]
[ENSMUST00000193307]
[ENSMUST00000191613]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043550
AA Change: V492A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: V492A
| 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: ENSMUST00000076521
|
| SMART Domains |
Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
3 |
116 |
1.98e-59 |
SMART |
|
low complexity region
|
135 |
151 |
N/A |
INTRINSIC |
|
Blast:IRF
|
158 |
189 |
6e-8 |
BLAST |
|
IRF-3
|
223 |
407 |
3.92e-86 |
SMART |
|
| 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: ENSMUST00000192020
AA Change: V492A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: V492A
| 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: ENSMUST00000161235
|
| SMART Domains |
Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
263 |
1.4e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192189
|
| 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: 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: ENSMUST00000191613
|
| SMART Domains |
Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
70 |
7.3e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
C |
A |
2: 26,733,609 (GRCm39) |
D199Y |
probably damaging |
Het |
| Acvr1c |
A |
C |
2: 58,170,306 (GRCm39) |
V277G |
probably damaging |
Het |
| Adam23 |
G |
A |
1: 63,584,731 (GRCm39) |
A380T |
probably benign |
Het |
| Art2b |
A |
G |
7: 101,229,236 (GRCm39) |
V221A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,500,640 (GRCm39) |
S153P |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 36,962,380 (GRCm39) |
Q494* |
probably null |
Het |
| C1qtnf1 |
G |
T |
11: 118,334,583 (GRCm39) |
G21V |
probably damaging |
Het |
| Car13 |
T |
C |
3: 14,710,235 (GRCm39) |
I59T |
probably benign |
Het |
| Cep97 |
T |
C |
16: 55,748,107 (GRCm39) |
N108D |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,979,784 (GRCm39) |
E182D |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,611,514 (GRCm39) |
K452R |
probably benign |
Het |
| Endou |
A |
G |
15: 97,610,873 (GRCm39) |
Y404H |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,540 (GRCm39) |
Y373C |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,660,375 (GRCm39) |
T405A |
probably damaging |
Het |
| Fetub |
A |
G |
16: 22,751,045 (GRCm39) |
R131G |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,379,767 (GRCm39) |
|
probably benign |
Het |
| Ggt5 |
T |
C |
10: 75,440,560 (GRCm39) |
V227A |
probably damaging |
Het |
| Gipr |
A |
G |
7: 18,897,996 (GRCm39) |
S79P |
probably benign |
Het |
| Gphn |
A |
G |
12: 78,459,128 (GRCm39) |
D72G |
possibly damaging |
Het |
| Gzmk |
A |
G |
13: 113,309,427 (GRCm39) |
S208P |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 26,907,805 (GRCm39) |
D633G |
probably damaging |
Het |
| Jarid2 |
T |
C |
13: 45,038,358 (GRCm39) |
|
probably null |
Het |
| Kif21b |
C |
A |
1: 136,075,583 (GRCm39) |
R237S |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,098,218 (GRCm39) |
R1805H |
probably benign |
Het |
| Lpin3 |
C |
T |
2: 160,747,218 (GRCm39) |
P815S |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,395,867 (GRCm39) |
I2468F |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,388,475 (GRCm39) |
N1118S |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,890,384 (GRCm39) |
I90N |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,402 (GRCm39) |
T1408A |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,753 (GRCm39) |
D779G |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,770 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Pkd1l3 |
C |
A |
8: 110,350,831 (GRCm39) |
P559T |
possibly damaging |
Het |
| Pou2af2 |
A |
G |
9: 51,203,098 (GRCm39) |
S19P |
probably damaging |
Het |
| Pramel23 |
C |
G |
4: 143,424,714 (GRCm39) |
G243A |
probably benign |
Het |
| Prex1 |
T |
A |
2: 166,428,574 (GRCm39) |
I716F |
probably benign |
Het |
| Psap |
C |
T |
10: 60,130,826 (GRCm39) |
Q219* |
probably null |
Het |
| Rab5if |
C |
T |
2: 156,707,252 (GRCm39) |
P64S |
probably damaging |
Het |
| Shisa5 |
T |
A |
9: 108,885,108 (GRCm39) |
I126N |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,414,931 (GRCm39) |
L21P |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,194,167 (GRCm39) |
T172A |
probably damaging |
Het |
| Sned1 |
C |
T |
1: 93,192,769 (GRCm39) |
P352L |
probably benign |
Het |
| Sox4 |
T |
C |
13: 29,136,127 (GRCm39) |
Y293C |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,715,958 (GRCm39) |
H654L |
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,059,166 (GRCm39) |
M510L |
probably benign |
Het |
| Syna |
C |
A |
5: 134,588,006 (GRCm39) |
M314I |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,730,152 (GRCm39) |
L144P |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,101,498 (GRCm39) |
F379L |
probably benign |
Het |
| Uba2 |
A |
G |
7: 33,850,455 (GRCm39) |
F364S |
probably damaging |
Het |
| Unc50 |
T |
A |
1: 37,476,323 (GRCm39) |
L161Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,282,206 (GRCm39) |
V1907A |
probably benign |
Het |
| Uso1 |
A |
T |
5: 92,348,992 (GRCm39) |
|
probably null |
Het |
| Utf1 |
C |
A |
7: 139,524,213 (GRCm39) |
L143I |
probably damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,490,143 (GRCm39) |
C22Y |
probably damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,756 (GRCm39) |
M40L |
probably benign |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,055 (GRCm39) |
V386A |
possibly damaging |
Het |
| Vps9d1 |
C |
A |
8: 123,973,778 (GRCm39) |
R335L |
probably damaging |
Het |
| Zbtb26 |
A |
G |
2: 37,326,347 (GRCm39) |
S230P |
possibly damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,569 (GRCm39) |
C380S |
probably damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,602,388 (GRCm39) |
V469G |
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 |
|
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 |
|
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'- CCGGATTCATTTGGAGGGAAAC -3'
(R):5'- TCTCTAGGCCACTAGTAAACTGG -3'
Sequencing Primer
(F):5'- GGAAACCCAAGTTATAAAGTACCAG -3'
(R):5'- GCTAATTCATAGCTGCTCTC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation