Incidental Mutation 'IGL02680:Tnfrsf14'
| ID |
303333 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnfrsf14
|
| Ensembl Gene |
ENSMUSG00000042333 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) |
| Synonyms |
Hvem, Atar, HveA |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155006390-155013020 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 155008927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 165
(C165*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123514]
[ENSMUST00000137803]
[ENSMUST00000145296]
[ENSMUST00000152687]
[ENSMUST00000219534]
|
| AlphaFold |
Q80WM9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045919
AA Change: C165*
|
| SMART Domains |
Protein: ENSMUSP00000045240
Gene: ENSMUSG00000042333
AA Change: C165*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
TNFR
|
42 |
75 |
1.19e-2 |
SMART |
|
TNFR
|
78 |
119 |
1.61e-8 |
SMART |
|
TNFR
|
121 |
162 |
2.49e-5 |
SMART |
|
TNFR
|
165 |
203 |
2.63e-4 |
SMART |
|
transmembrane domain
|
208 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123514
AA Change: C165*
|
| SMART Domains |
Protein: ENSMUSP00000116757
Gene: ENSMUSG00000042333
AA Change: C165*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
TNFR
|
42 |
75 |
1.19e-2 |
SMART |
|
TNFR
|
78 |
119 |
1.61e-8 |
SMART |
|
TNFR
|
121 |
162 |
2.49e-5 |
SMART |
|
TNFR
|
165 |
203 |
2.63e-4 |
SMART |
|
transmembrane domain
|
208 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137803
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145296
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152687
AA Change: C81*
|
| SMART Domains |
Protein: ENSMUSP00000117890
Gene: ENSMUSG00000042333
AA Change: C81*
| Domain | Start | End | E-Value | Type |
|---|
|
TNFR
|
37 |
78 |
2.49e-5 |
SMART |
|
TNFR
|
81 |
119 |
2.63e-4 |
SMART |
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219534
AA Change: C165*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,949 (GRCm39) |
|
probably benign |
Het |
| Aldh1a3 |
C |
A |
7: 66,055,895 (GRCm39) |
V299F |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,709,275 (GRCm39) |
Y747H |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,180,000 (GRCm39) |
I107T |
probably damaging |
Het |
| Atmin |
A |
T |
8: 117,684,236 (GRCm39) |
D632V |
probably damaging |
Het |
| Atp5pd |
C |
A |
11: 115,306,840 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,838,895 (GRCm39) |
E81G |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,128,797 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cfap100 |
C |
T |
6: 90,389,217 (GRCm39) |
V335I |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,180,381 (GRCm39) |
D181E |
probably benign |
Het |
| Efcab14 |
T |
A |
4: 115,597,615 (GRCm39) |
I70N |
probably damaging |
Het |
| Frzb |
T |
C |
2: 80,254,970 (GRCm39) |
T189A |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,614,506 (GRCm39) |
W69* |
probably null |
Het |
| Gjb3 |
C |
T |
4: 127,219,815 (GRCm39) |
C239Y |
probably damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Inpp5d |
A |
G |
1: 87,629,205 (GRCm39) |
T397A |
possibly damaging |
Het |
| Myh11 |
G |
T |
16: 14,027,384 (GRCm39) |
H1283Q |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,420,256 (GRCm39) |
V1338A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,890,846 (GRCm39) |
S7229P |
unknown |
Het |
| Or1l4b |
A |
T |
2: 37,036,427 (GRCm39) |
I68F |
probably damaging |
Het |
| Pfkp |
G |
A |
13: 6,650,708 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,502,619 (GRCm39) |
I102K |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,891,290 (GRCm39) |
M732V |
probably benign |
Het |
| Rsc1a1 |
A |
G |
4: 141,412,408 (GRCm39) |
V168A |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,495,125 (GRCm39) |
Y372F |
probably damaging |
Het |
| Slc35c2 |
G |
T |
2: 165,124,055 (GRCm39) |
T94K |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,119,728 (GRCm39) |
Y345H |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,864,854 (GRCm39) |
S387P |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,145 (GRCm39) |
N727I |
probably benign |
Het |
| Steap2 |
A |
T |
5: 5,723,474 (GRCm39) |
F469I |
probably benign |
Het |
| Tex2 |
T |
A |
11: 106,459,058 (GRCm39) |
|
probably benign |
Het |
| Tmem79 |
A |
G |
3: 88,240,270 (GRCm39) |
L226P |
probably damaging |
Het |
| Trim21 |
A |
G |
7: 102,208,870 (GRCm39) |
V283A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,948 (GRCm39) |
M274L |
probably benign |
Het |
|
| Other mutations in Tnfrsf14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
che
|
UTSW |
4 |
155,009,837 (GRCm39) |
nonsense |
probably null |
|
|
fidel
|
UTSW |
4 |
155,011,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
trotter
|
UTSW |
4 |
155,011,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0271:Tnfrsf14
|
UTSW |
4 |
155,011,054 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0605:Tnfrsf14
|
UTSW |
4 |
155,009,837 (GRCm39) |
nonsense |
probably null |
|
|
R1738:Tnfrsf14
|
UTSW |
4 |
155,009,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Tnfrsf14
|
UTSW |
4 |
155,009,779 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5371:Tnfrsf14
|
UTSW |
4 |
155,006,934 (GRCm39) |
splice site |
probably null |
|
|
R5869:Tnfrsf14
|
UTSW |
4 |
155,011,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6113:Tnfrsf14
|
UTSW |
4 |
155,008,949 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7790:Tnfrsf14
|
UTSW |
4 |
155,007,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8015:Tnfrsf14
|
UTSW |
4 |
155,011,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Tnfrsf14
|
UTSW |
4 |
155,011,112 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8454:Tnfrsf14
|
UTSW |
4 |
155,011,112 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8738:Tnfrsf14
|
UTSW |
4 |
155,007,710 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
| Posted On |
2015-04-16 |
Incidental Mutation