Incidental Mutation 'RF062:Tnfaip8'
| ID |
605447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfaip8
|
| Ensembl Gene |
ENSMUSG00000062210 |
| Gene Name |
tumor necrosis factor, alpha-induced protein 8 |
| Synonyms |
Nded, Tipe, E130304C20Rik, Gm10539, Ssc-2, Gg2-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
RF062 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
50112494-50226296 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC to AC
at 50179898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126666]
[ENSMUST00000128377]
[ENSMUST00000134348]
[ENSMUST00000145726]
[ENSMUST00000148989]
[ENSMUST00000153873]
[ENSMUST00000179937]
[ENSMUST00000180305]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126666
|
| SMART Domains |
Protein: ENSMUSP00000121372
Gene: ENSMUSG00000062210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF758
|
27 |
212 |
6.5e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128377
|
| SMART Domains |
Protein: ENSMUSP00000136152
Gene: ENSMUSG00000062210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF758
|
7 |
166 |
1.2e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134348
|
| SMART Domains |
Protein: ENSMUSP00000119533
Gene: ENSMUSG00000062210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF758
|
27 |
77 |
3.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145726
|
| SMART Domains |
Protein: ENSMUSP00000136665
Gene: ENSMUSG00000062210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF758
|
1 |
100 |
4.4e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148989
|
| SMART Domains |
Protein: ENSMUSP00000120712
Gene: ENSMUSG00000062210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF758
|
3 |
188 |
4.1e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153873
|
| SMART Domains |
Protein: ENSMUSP00000115396
Gene: ENSMUSG00000062210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF758
|
27 |
114 |
9e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179937
|
| SMART Domains |
Protein: ENSMUSP00000136030
Gene: ENSMUSG00000062210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF758
|
3 |
134 |
1.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180305
|
| SMART Domains |
Protein: ENSMUSP00000136682
Gene: ENSMUSG00000062210
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
59 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
GTGGCGGCGGCGGC |
G |
2: 25,162,549 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,693,971 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
CAG |
C |
7: 105,083,894 (GRCm39) |
|
probably null |
Het |
| Defb22 |
TGGCCT |
TGGCCTCTGCGGCAGAGCCGGCCT |
2: 152,327,745 (GRCm39) |
|
probably benign |
Het |
| Dennd2b |
GGGCAGCCCTCACTGA |
G |
7: 109,156,153 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GGTGGAAGTGGTGGAAGTGGTGGAAGT |
GGTGGAAGTGGTGGAAGTGGTGGAAGTCGTGGAAGTGGTGGAAGTGGTGGAAGT |
7: 30,466,600 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,602,066 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CC |
CCGCCGAC |
4: 141,602,085 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TTTT |
TTTTGTTT |
2: 82,814,707 (GRCm39) |
|
probably benign |
Het |
| Gm11060 |
CTGTGTG |
CTG |
2: 104,922,385 (GRCm39) |
|
probably null |
Het |
| Gm5591 |
GC |
G |
7: 38,221,759 (GRCm39) |
|
probably null |
Het |
| Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
ACCACCGCC |
ACCACCGCCACCGCC |
11: 99,280,090 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGGGACTTGGCCTCACCGGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,028 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAAGCTGAGA |
CAAGCTGAGATACACGTTAGCAGTGAGGAGGAAGCTGAGA |
2: 119,458,082 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
A |
ATACACGTTAGCAGTGAGGAGCAAGCTGAGG |
2: 119,458,091 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
CTCTCTCTCTCTCT |
CTCTCTCTCTCTCTCTATCTCTCTCTCTCT |
10: 84,694,345 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,025 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CCCAGGCCCAGGCCCAGGCCCAGG |
CCCAGGCCCAGGACCAGGCCCAGGCCCAGGCCCAGG |
6: 125,013,429 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tnfaip8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00328:Tnfaip8
|
APN |
18 |
50,223,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03391:Tnfaip8
|
APN |
18 |
50,223,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
FR4304:Tnfaip8
|
UTSW |
18 |
50,179,906 (GRCm39) |
frame shift |
probably null |
|
|
FR4449:Tnfaip8
|
UTSW |
18 |
50,179,906 (GRCm39) |
frame shift |
probably null |
|
|
R0605:Tnfaip8
|
UTSW |
18 |
50,179,912 (GRCm39) |
small deletion |
probably benign |
|
|
R1696:Tnfaip8
|
UTSW |
18 |
50,223,290 (GRCm39) |
nonsense |
probably null |
|
|
R1804:Tnfaip8
|
UTSW |
18 |
50,223,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2247:Tnfaip8
|
UTSW |
18 |
50,179,912 (GRCm39) |
frame shift |
probably null |
|
|
R3963:Tnfaip8
|
UTSW |
18 |
50,223,653 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4258:Tnfaip8
|
UTSW |
18 |
50,223,443 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4738:Tnfaip8
|
UTSW |
18 |
50,223,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Tnfaip8
|
UTSW |
18 |
50,184,742 (GRCm39) |
unclassified |
probably benign |
|
|
R7786:Tnfaip8
|
UTSW |
18 |
50,180,179 (GRCm39) |
missense |
unknown |
|
|
R7786:Tnfaip8
|
UTSW |
18 |
50,180,178 (GRCm39) |
missense |
unknown |
|
|
R8832:Tnfaip8
|
UTSW |
18 |
50,179,908 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8889:Tnfaip8
|
UTSW |
18 |
50,179,908 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9611:Tnfaip8
|
UTSW |
18 |
50,179,908 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9649:Tnfaip8
|
UTSW |
18 |
50,223,512 (GRCm39) |
nonsense |
probably null |
|
|
RF024:Tnfaip8
|
UTSW |
18 |
50,179,898 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF052:Tnfaip8
|
UTSW |
18 |
50,179,900 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTTCTTGTCCAAAATCTGACATG -3'
(R):5'- GTGAAGCGTTCAGAAGCCAG -3'
Sequencing Primer
(F):5'- TGTCCAAAATCTGACATGAAAGAAGC -3'
(R):5'- GGGACCCCCAGTAATCACCTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation