Incidental Mutation 'R6462:Traf3ip2'
| ID |
517644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf3ip2
|
| Ensembl Gene |
ENSMUSG00000019842 |
| Gene Name |
TRAF3 interacting protein 2 |
| Synonyms |
Act1 |
| MMRRC Submission |
044596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
39488930-39531303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39515243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 340
(N340K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019987]
|
| AlphaFold |
Q8N7N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019987
AA Change: N340K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000019987
Gene: ENSMUSG00000019842
AA Change: N340K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
179 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
391 |
533 |
1.2e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153261
|
| Meta Mutation Damage Score |
0.0786 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
95% (37/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for one null allele exhibit splenomegaly, lymphadenopathy, increased number of B cells, defective IL-17 signaling, and increased immunoglobulin levels (including auto-antibodies) whereas mice homozygous for another null allele lack these features except the defect in IL-17 signaling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpc1a |
C |
T |
5: 145,045,197 (GRCm39) |
S362F |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,088,788 (GRCm39) |
A171V |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,170,621 (GRCm39) |
V62A |
probably damaging |
Het |
| Cdc5l |
G |
A |
17: 45,703,975 (GRCm39) |
R750C |
probably benign |
Het |
| Ctdp1 |
C |
T |
18: 80,463,689 (GRCm39) |
E116K |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,193,251 (GRCm39) |
N567S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epor |
T |
C |
9: 21,870,551 (GRCm39) |
E443G |
probably benign |
Het |
| Fam90a1a |
A |
T |
8: 22,449,298 (GRCm39) |
Q14L |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,124,880 (GRCm39) |
L498P |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lmod2 |
T |
G |
6: 24,604,300 (GRCm39) |
V425G |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,916,178 (GRCm39) |
|
probably benign |
Het |
| Me2 |
C |
A |
18: 73,908,470 (GRCm39) |
V490F |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,692,338 (GRCm39) |
T27A |
probably damaging |
Het |
| Mmp1a |
T |
C |
9: 7,467,039 (GRCm39) |
Y239H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,373,993 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
C |
11: 115,750,268 (GRCm39) |
E346A |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,448,423 (GRCm39) |
F66S |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,101,236 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,844,223 (GRCm39) |
F37L |
probably benign |
Het |
| Odf2l |
T |
G |
3: 144,852,672 (GRCm39) |
L472R |
probably damaging |
Het |
| Or10al2 |
T |
C |
17: 37,983,111 (GRCm39) |
Y66H |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,963,873 (GRCm39) |
I463N |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,043,128 (GRCm39) |
T117K |
probably damaging |
Het |
| Ppme1 |
C |
A |
7: 99,987,599 (GRCm39) |
R271M |
probably benign |
Het |
| Rps6ka4 |
T |
G |
19: 6,814,957 (GRCm39) |
E249A |
possibly damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,555,596 (GRCm39) |
I587F |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,217,969 (GRCm39) |
V456A |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,720 (GRCm39) |
I344F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tbc1d10c |
T |
C |
19: 4,234,893 (GRCm39) |
I389M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,081,836 (GRCm39) |
F1205L |
probably benign |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,846 (GRCm39) |
H214Q |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 74,985,966 (GRCm39) |
E362G |
probably benign |
Het |
| Zfp46 |
A |
C |
4: 136,017,924 (GRCm39) |
T253P |
probably damaging |
Het |
|
| Other mutations in Traf3ip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01941:Traf3ip2
|
APN |
10 |
39,510,656 (GRCm39) |
missense |
probably benign |
|
|
IGL02097:Traf3ip2
|
APN |
10 |
39,530,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02530:Traf3ip2
|
APN |
10 |
39,522,902 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02957:Traf3ip2
|
APN |
10 |
39,530,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03034:Traf3ip2
|
APN |
10 |
39,502,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03123:Traf3ip2
|
APN |
10 |
39,515,218 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03386:Traf3ip2
|
APN |
10 |
39,521,704 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0328:Traf3ip2
|
UTSW |
10 |
39,510,669 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1282:Traf3ip2
|
UTSW |
10 |
39,502,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Traf3ip2
|
UTSW |
10 |
39,501,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2975:Traf3ip2
|
UTSW |
10 |
39,502,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4575:Traf3ip2
|
UTSW |
10 |
39,510,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4576:Traf3ip2
|
UTSW |
10 |
39,510,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4578:Traf3ip2
|
UTSW |
10 |
39,510,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4670:Traf3ip2
|
UTSW |
10 |
39,515,256 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4680:Traf3ip2
|
UTSW |
10 |
39,515,256 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4681:Traf3ip2
|
UTSW |
10 |
39,515,256 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4710:Traf3ip2
|
UTSW |
10 |
39,515,256 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4742:Traf3ip2
|
UTSW |
10 |
39,515,256 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4760:Traf3ip2
|
UTSW |
10 |
39,521,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Traf3ip2
|
UTSW |
10 |
39,502,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Traf3ip2
|
UTSW |
10 |
39,502,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Traf3ip2
|
UTSW |
10 |
39,517,337 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6421:Traf3ip2
|
UTSW |
10 |
39,515,400 (GRCm39) |
splice site |
probably null |
|
|
R7156:Traf3ip2
|
UTSW |
10 |
39,502,173 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7840:Traf3ip2
|
UTSW |
10 |
39,502,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9489:Traf3ip2
|
UTSW |
10 |
39,521,772 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9605:Traf3ip2
|
UTSW |
10 |
39,521,772 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0020:Traf3ip2
|
UTSW |
10 |
39,530,515 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Traf3ip2
|
UTSW |
10 |
39,502,529 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTACAAAGGAAACTCCATGCCC -3'
(R):5'- AGCCAAACCCTCTGAGCATG -3'
Sequencing Primer
(F):5'- CCACCTCTCCATCTGTGTCAG -3'
(R):5'- TCTGAGCATGAAACCCCACAAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation