Incidental Mutation 'IGL00155:Tnfrsf8'
| ID |
1688 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnfrsf8
|
| Ensembl Gene |
ENSMUSG00000028602 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 8 |
| Synonyms |
CD30 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL00155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144993707-145041734 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 145019161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030339]
[ENSMUST00000123027]
|
| AlphaFold |
Q60846 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030339
|
| SMART Domains |
Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
TNFR
|
29 |
65 |
2.33e0 |
SMART |
|
TNFR
|
69 |
105 |
5.51e-7 |
SMART |
|
TNFR
|
107 |
146 |
2.87e-5 |
SMART |
|
low complexity region
|
149 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
288 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123027
|
| SMART Domains |
Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
TNFR
|
29 |
65 |
2.33e0 |
SMART |
|
TNFR
|
69 |
105 |
5.51e-7 |
SMART |
|
TNFR
|
107 |
146 |
2.87e-5 |
SMART |
|
low complexity region
|
149 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
313 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display an enlarged thymus, impaired activation-induced death of double-positive thymocytes after CD3 cross-linking, and decreased susceptibility to graft versus host disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,590,235 (GRCm39) |
F498S |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,664,601 (GRCm39) |
S561P |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,824,632 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cd209b |
T |
A |
8: 3,969,945 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,405,808 (GRCm39) |
S1575P |
probably benign |
Het |
| Crabp2 |
A |
G |
3: 87,859,506 (GRCm39) |
Y52C |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,744 (GRCm39) |
W137R |
probably damaging |
Het |
| Cxcl9 |
T |
A |
5: 92,471,728 (GRCm39) |
H104L |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,811,996 (GRCm39) |
I742T |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,877,626 (GRCm39) |
V223A |
possibly damaging |
Het |
| Fzd10 |
T |
A |
5: 128,678,592 (GRCm39) |
I104N |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,761,962 (GRCm39) |
S473P |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,271,602 (GRCm39) |
Y873C |
probably damaging |
Het |
| Igsf6 |
T |
A |
7: 120,669,876 (GRCm39) |
K89* |
probably null |
Het |
| Ints3 |
A |
G |
3: 90,313,636 (GRCm39) |
F331L |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,140,354 (GRCm39) |
H1080L |
possibly damaging |
Het |
| Mettl15 |
A |
T |
2: 108,923,521 (GRCm39) |
Y300* |
probably null |
Het |
| Mms19 |
A |
G |
19: 41,936,672 (GRCm39) |
F654L |
probably benign |
Het |
| Myc |
A |
G |
15: 61,861,669 (GRCm39) |
H425R |
probably benign |
Het |
| Ntn1 |
G |
T |
11: 68,117,445 (GRCm39) |
|
probably benign |
Het |
| Ormdl2 |
C |
A |
10: 128,655,944 (GRCm39) |
G69W |
probably damaging |
Het |
| Pdpr |
T |
C |
8: 111,828,704 (GRCm39) |
V69A |
possibly damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,587,908 (GRCm39) |
I254T |
probably damaging |
Het |
| Sema6d |
A |
G |
2: 124,501,785 (GRCm39) |
R543G |
possibly damaging |
Het |
| Slc18a1 |
C |
T |
8: 69,503,998 (GRCm39) |
A314T |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,760,201 (GRCm39) |
L514P |
probably damaging |
Het |
| Slc22a28 |
A |
C |
19: 8,107,567 (GRCm39) |
S167A |
possibly damaging |
Het |
| Speer1m |
A |
G |
5: 11,971,377 (GRCm39) |
S110G |
possibly damaging |
Het |
| Tchh |
A |
G |
3: 93,352,606 (GRCm39) |
E682G |
unknown |
Het |
| Thbs2 |
A |
T |
17: 14,889,097 (GRCm39) |
M1134K |
probably damaging |
Het |
| Tmem26 |
A |
G |
10: 68,611,184 (GRCm39) |
S218G |
probably damaging |
Het |
| Tmprss11c |
A |
T |
5: 86,387,254 (GRCm39) |
S208R |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,596,875 (GRCm39) |
S3872P |
probably benign |
Het |
| Vmn1r69 |
T |
C |
7: 10,313,879 (GRCm39) |
N205S |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,840 (GRCm39) |
|
probably benign |
Het |
| Wwtr1 |
A |
T |
3: 57,370,942 (GRCm39) |
M328K |
possibly damaging |
Het |
| Zfp64 |
G |
A |
2: 168,768,601 (GRCm39) |
S337L |
probably benign |
Het |
|
| Other mutations in Tnfrsf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02815:Tnfrsf8
|
APN |
4 |
145,025,348 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02819:Tnfrsf8
|
APN |
4 |
144,995,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03033:Tnfrsf8
|
APN |
4 |
145,019,219 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03105:Tnfrsf8
|
APN |
4 |
145,025,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02837:Tnfrsf8
|
UTSW |
4 |
144,995,568 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0114:Tnfrsf8
|
UTSW |
4 |
145,014,617 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0326:Tnfrsf8
|
UTSW |
4 |
145,015,029 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0594:Tnfrsf8
|
UTSW |
4 |
145,023,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Tnfrsf8
|
UTSW |
4 |
145,014,597 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0826:Tnfrsf8
|
UTSW |
4 |
145,011,708 (GRCm39) |
splice site |
probably benign |
|
|
R3056:Tnfrsf8
|
UTSW |
4 |
145,011,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4700:Tnfrsf8
|
UTSW |
4 |
145,029,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4765:Tnfrsf8
|
UTSW |
4 |
145,023,447 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5149:Tnfrsf8
|
UTSW |
4 |
145,029,675 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5452:Tnfrsf8
|
UTSW |
4 |
145,019,214 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5632:Tnfrsf8
|
UTSW |
4 |
145,019,203 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5673:Tnfrsf8
|
UTSW |
4 |
145,011,905 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5877:Tnfrsf8
|
UTSW |
4 |
145,019,257 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6243:Tnfrsf8
|
UTSW |
4 |
145,029,671 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6259:Tnfrsf8
|
UTSW |
4 |
145,004,094 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6326:Tnfrsf8
|
UTSW |
4 |
144,995,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Tnfrsf8
|
UTSW |
4 |
145,019,168 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7025:Tnfrsf8
|
UTSW |
4 |
145,000,973 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7156:Tnfrsf8
|
UTSW |
4 |
145,041,654 (GRCm39) |
start codon destroyed |
unknown |
|
|
R7313:Tnfrsf8
|
UTSW |
4 |
145,000,952 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7505:Tnfrsf8
|
UTSW |
4 |
144,995,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Tnfrsf8
|
UTSW |
4 |
145,041,653 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8354:Tnfrsf8
|
UTSW |
4 |
145,014,553 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8406:Tnfrsf8
|
UTSW |
4 |
145,019,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8454:Tnfrsf8
|
UTSW |
4 |
145,014,553 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8554:Tnfrsf8
|
UTSW |
4 |
145,023,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Tnfrsf8
|
UTSW |
4 |
145,001,038 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9125:Tnfrsf8
|
UTSW |
4 |
145,023,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Tnfrsf8
|
UTSW |
4 |
145,019,668 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Tnfrsf8
|
UTSW |
4 |
145,019,279 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2011-07-12 |
Incidental Mutation