Incidental Mutation 'R2247:Tnfaip8'
ID |
240922 |
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 |
MMRRC Submission |
040247-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.303)
|
Stock # |
R2247 (G1)
|
Quality Score |
131 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
50112494-50226296 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC to ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
at 50179912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126666]
[ENSMUST00000128377]
[ENSMUST00000134348]
[ENSMUST00000180305]
[ENSMUST00000148989]
[ENSMUST00000145726]
[ENSMUST00000179937]
[ENSMUST00000153873]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000087655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124175
|
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 |
noncoding transcript
Transcript: ENSMUST00000129164
|
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 null
Transcript: ENSMUST00000180305
|
SMART Domains |
Protein: ENSMUSP00000136682 Gene: ENSMUSG00000062210
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
59 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155403
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151719
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153545
|
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: 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: 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: ENSMUST00000153873
|
SMART Domains |
Protein: ENSMUSP00000115396 Gene: ENSMUSG00000062210
Domain | Start | End | E-Value | Type |
Pfam:DUF758
|
27 |
114 |
9e-45 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,184,435 (GRCm39) |
E70G |
possibly damaging |
Het |
Ash1l |
C |
A |
3: 88,914,674 (GRCm39) |
P1768Q |
possibly damaging |
Het |
Bicra |
C |
A |
7: 15,723,159 (GRCm39) |
E119D |
probably benign |
Het |
Brd2 |
A |
G |
17: 34,333,389 (GRCm39) |
F421L |
probably damaging |
Het |
Cspp1 |
A |
T |
1: 10,136,685 (GRCm39) |
Q182L |
possibly damaging |
Het |
Dnah7b |
A |
G |
1: 46,316,223 (GRCm39) |
D3112G |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,168,369 (GRCm39) |
I697F |
probably damaging |
Het |
Ephb1 |
A |
T |
9: 101,874,010 (GRCm39) |
S555T |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,946,198 (GRCm39) |
D1697V |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,088,627 (GRCm39) |
K1160R |
probably damaging |
Het |
Jak2 |
T |
C |
19: 29,261,036 (GRCm39) |
V344A |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,221,016 (GRCm39) |
T168A |
probably damaging |
Het |
Kctd18 |
A |
T |
1: 58,006,801 (GRCm39) |
H16Q |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myh11 |
A |
G |
16: 14,095,423 (GRCm39) |
L113P |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,225,384 (GRCm39) |
I250F |
probably damaging |
Het |
Nin |
T |
C |
12: 70,101,319 (GRCm39) |
Y426C |
probably damaging |
Het |
Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
Or51ab3 |
T |
A |
7: 103,201,097 (GRCm39) |
|
probably null |
Het |
Pbrm1 |
A |
G |
14: 30,796,850 (GRCm39) |
H897R |
probably damaging |
Het |
Pgap4 |
T |
C |
4: 49,586,209 (GRCm39) |
S320G |
probably benign |
Het |
Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
Psapl1 |
A |
G |
5: 36,362,410 (GRCm39) |
E334G |
probably benign |
Het |
Pwwp3a |
A |
G |
10: 80,076,259 (GRCm39) |
Y483C |
probably damaging |
Het |
Raly |
A |
G |
2: 154,705,953 (GRCm39) |
H277R |
possibly damaging |
Het |
Ranbp9 |
T |
C |
13: 43,565,901 (GRCm39) |
K462E |
probably damaging |
Het |
Rptn |
A |
G |
3: 93,304,136 (GRCm39) |
T490A |
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,561,413 (GRCm39) |
H142R |
possibly damaging |
Het |
Scart2 |
G |
A |
7: 139,829,042 (GRCm39) |
G234S |
probably null |
Het |
Shisa3 |
G |
A |
5: 67,768,666 (GRCm39) |
V189M |
probably benign |
Het |
Slc25a36 |
A |
T |
9: 96,982,191 (GRCm39) |
L28Q |
probably damaging |
Het |
Slc38a8 |
A |
G |
8: 120,212,389 (GRCm39) |
M318T |
probably benign |
Het |
Slc4a11 |
A |
T |
2: 130,529,721 (GRCm39) |
M328K |
probably benign |
Het |
Sp2 |
A |
C |
11: 96,852,844 (GRCm39) |
|
probably null |
Het |
Sult2b1 |
A |
T |
7: 45,384,734 (GRCm39) |
I114N |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,900,202 (GRCm39) |
S803P |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,555,216 (GRCm39) |
D2603E |
probably benign |
Het |
Zfp189 |
T |
A |
4: 49,530,393 (GRCm39) |
C499S |
possibly damaging |
Het |
Zfp236 |
A |
G |
18: 82,622,423 (GRCm39) |
F1621S |
possibly damaging |
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 |
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 |
|
RF062:Tnfaip8
|
UTSW |
18 |
50,179,898 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACTGGACGTAGCTTCAACTGC -3'
(R):5'- CAACTTCCCAGCGCTGATAG -3'
Sequencing Primer
(F):5'- GGACGTAGCTTCAACTGCCAAAC -3'
(R):5'- TTACTGTGAAGCGTTCAGAAGCC -3'
|
Posted On |
2014-10-15 |