Incidental Mutation 'R7786:Tnfaip8'
| ID |
599556 |
| 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 |
045842-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
R7786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
50112494-50226296 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50180179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 110
(A110V)
|
| 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 |
unknown
Transcript: ENSMUST00000180305
AA Change: A110V
|
| SMART Domains |
Protein: ENSMUSP00000136682
Gene: ENSMUSG00000062210
AA Change: A110V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
59 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (42/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
T |
C |
18: 74,925,518 (GRCm39) |
S94P |
probably damaging |
Het |
| Adam18 |
C |
T |
8: 25,101,134 (GRCm39) |
R676H |
probably benign |
Het |
| Akna |
A |
G |
4: 63,313,199 (GRCm39) |
L308P |
probably benign |
Het |
| Ambra1 |
G |
C |
2: 91,598,141 (GRCm39) |
V101L |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,392,267 (GRCm39) |
D377G |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,612,092 (GRCm39) |
W179R |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,001,077 (GRCm39) |
Q159K |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,984,478 (GRCm39) |
H3935Q |
probably damaging |
Het |
| Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
| Fcrla |
G |
T |
1: 170,748,426 (GRCm39) |
P265Q |
possibly damaging |
Het |
| Gabbr1 |
A |
T |
17: 37,380,955 (GRCm39) |
N766I |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 74,016,976 (GRCm39) |
T27S |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,766,403 (GRCm39) |
S391T |
probably benign |
Het |
| Gatad2b |
T |
C |
3: 90,262,986 (GRCm39) |
I476T |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Gtf2ird1 |
C |
A |
5: 134,419,753 (GRCm39) |
G71* |
probably null |
Het |
| Hdac11 |
T |
A |
6: 91,150,158 (GRCm39) |
L319* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,506 (GRCm39) |
W4R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,466 (GRCm39) |
I1278V |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,798,965 (GRCm39) |
E240V |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,812,085 (GRCm39) |
Q180* |
probably null |
Het |
| Megf8 |
T |
C |
7: 25,017,120 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,313,511 (GRCm39) |
T892A |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,276,764 (GRCm39) |
S413N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,397,733 (GRCm39) |
D812G |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,050 (GRCm39) |
I71N |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,193,916 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,930 (GRCm39) |
R309H |
unknown |
Het |
| Or52p1 |
T |
A |
7: 104,266,925 (GRCm39) |
I13N |
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,576,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,310,024 (GRCm39) |
M432T |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,586,757 (GRCm39) |
T430I |
probably benign |
Het |
| Poc5 |
C |
A |
13: 96,541,027 (GRCm39) |
Q399K |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,036,992 (GRCm39) |
G2013R |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,190,568 (GRCm39) |
D52G |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,901,276 (GRCm39) |
F2488V |
probably damaging |
Het |
| Top3a |
C |
T |
11: 60,667,792 (GRCm39) |
A46T |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,332,463 (GRCm39) |
S40T |
possibly damaging |
Het |
| Vav2 |
C |
A |
2: 27,276,613 (GRCm39) |
L70F |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,242,702 (GRCm39) |
|
probably null |
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 |
50,180,178 (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'- TGGACTCCTTACTCAGCCTG -3'
(R):5'- GAAGACAGCACCATTTCTTCC -3'
Sequencing Primer
(F):5'- GACTCCTTACTCAGCCTGTCTTGG -3'
(R):5'- GACAGCACCATTTCTTCCTAATTAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation