Incidental Mutation 'R1366:Tnfaip2'
| ID |
156047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfaip2
|
| Ensembl Gene |
ENSMUSG00000021281 |
| Gene Name |
tumor necrosis factor, alpha-induced protein 2 |
| Synonyms |
M-sec, Tnfip2, Exoc3l3 |
| MMRRC Submission |
039431-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1366 (G1)
|
| Quality Score |
126 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111408903-111421452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 111415756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 485
(F485V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102745]
[ENSMUST00000109792]
[ENSMUST00000129467]
[ENSMUST00000174298]
[ENSMUST00000172783]
|
| AlphaFold |
Q61333 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102745
AA Change: F468V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099806
Gene: ENSMUSG00000021281
AA Change: F468V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
147 |
N/A |
INTRINSIC |
|
Pfam:Sec6
|
157 |
688 |
1.3e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109792
AA Change: F485V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105415
Gene: ENSMUSG00000021281
AA Change: F485V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
147 |
N/A |
INTRINSIC |
|
Pfam:Sec6
|
157 |
705 |
1.7e-107 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127207
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129467
|
| SMART Domains |
Protein: ENSMUSP00000133274
Gene: ENSMUSG00000021281
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221429
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174298
|
| SMART Domains |
Protein: ENSMUSP00000133317
Gene: ENSMUSG00000021281
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172783
|
| SMART Domains |
Protein: ENSMUSP00000133635
Gene: ENSMUSG00000021281
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
89 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
| Validation Efficiency |
93% (43/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,644,861 (GRCm39) |
C205S |
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
G |
A |
2: 130,238,042 (GRCm39) |
R136W |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,934,663 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
| Hck |
G |
A |
2: 152,980,215 (GRCm39) |
G348D |
probably damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,851 (GRCm39) |
T134A |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,795,262 (GRCm39) |
V628E |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
| Or14j3 |
T |
C |
17: 37,900,655 (GRCm39) |
I196M |
probably benign |
Het |
| Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
| Plcxd1 |
A |
C |
5: 110,250,096 (GRCm39) |
I184L |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
T |
C |
3: 9,028,993 (GRCm39) |
D17G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
probably damaging |
Het |
|
| Other mutations in Tnfaip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Tnfaip2
|
APN |
12 |
111,419,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01352:Tnfaip2
|
APN |
12 |
111,412,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Tnfaip2
|
APN |
12 |
111,412,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Tnfaip2
|
UTSW |
12 |
111,412,244 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0145:Tnfaip2
|
UTSW |
12 |
111,412,292 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0324:Tnfaip2
|
UTSW |
12 |
111,419,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Tnfaip2
|
UTSW |
12 |
111,419,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0837:Tnfaip2
|
UTSW |
12 |
111,417,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1353:Tnfaip2
|
UTSW |
12 |
111,411,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Tnfaip2
|
UTSW |
12 |
111,416,325 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2109:Tnfaip2
|
UTSW |
12 |
111,414,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2147:Tnfaip2
|
UTSW |
12 |
111,412,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4003:Tnfaip2
|
UTSW |
12 |
111,417,778 (GRCm39) |
splice site |
probably benign |
|
|
R4402:Tnfaip2
|
UTSW |
12 |
111,416,285 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4690:Tnfaip2
|
UTSW |
12 |
111,411,682 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4718:Tnfaip2
|
UTSW |
12 |
111,412,463 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5271:Tnfaip2
|
UTSW |
12 |
111,414,894 (GRCm39) |
intron |
probably benign |
|
|
R6478:Tnfaip2
|
UTSW |
12 |
111,412,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7623:Tnfaip2
|
UTSW |
12 |
111,412,072 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8951:Tnfaip2
|
UTSW |
12 |
111,412,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9168:Tnfaip2
|
UTSW |
12 |
111,411,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Tnfaip2
|
UTSW |
12 |
111,412,161 (GRCm39) |
missense |
probably benign |
|
|
R9607:Tnfaip2
|
UTSW |
12 |
111,412,069 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTACTTTCTCACGCACCCTAGTG -3'
(R):5'- AGGCTCAGCAAGTTTCCTGTTCC -3'
Sequencing Primer
(F):5'- GGCTCCTCAGGTTTTGCAAC -3'
(R):5'- AGTCAATTGCATCCTGGTGACTC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation