Incidental Mutation 'IGL03105:Tnfrsf8'
| ID |
418935 |
| 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 # |
IGL03105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144993707-145041734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145025354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 73
(Y73C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030339]
[ENSMUST00000123027]
|
| AlphaFold |
Q60846 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030339
AA Change: Y73C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: Y73C
| 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
AA Change: Y73C
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
AA Change: Y73C
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss1 |
A |
G |
12: 112,599,155 (GRCm39) |
I129V |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,591,373 (GRCm39) |
H553R |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,483,950 (GRCm39) |
K2923R |
probably benign |
Het |
| Cadm3 |
A |
T |
1: 173,172,583 (GRCm39) |
L174M |
probably damaging |
Het |
| Car10 |
T |
C |
11: 92,991,101 (GRCm39) |
V17A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,387,686 (GRCm39) |
K1956E |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,475,565 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
A |
T |
17: 78,623,179 (GRCm39) |
|
probably benign |
Het |
| Dedd |
G |
A |
1: 171,168,486 (GRCm39) |
R224H |
probably damaging |
Het |
| F7 |
A |
T |
8: 13,084,001 (GRCm39) |
I229L |
probably null |
Het |
| Igkv17-121 |
A |
T |
6: 68,014,284 (GRCm39) |
Q112L |
probably damaging |
Het |
| Kcnk13 |
G |
A |
12: 100,027,369 (GRCm39) |
R148Q |
probably damaging |
Het |
| Klk13 |
T |
C |
7: 43,370,904 (GRCm39) |
L51P |
probably benign |
Het |
| Ldb2 |
A |
G |
5: 44,956,715 (GRCm39) |
S41P |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,748,616 (GRCm39) |
D767G |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,019,199 (GRCm39) |
T8A |
probably benign |
Het |
| Mkln1 |
G |
T |
6: 31,435,994 (GRCm39) |
E318* |
probably null |
Het |
| Mx1 |
C |
T |
16: 97,257,554 (GRCm39) |
V68I |
possibly damaging |
Het |
| Mylk2 |
T |
C |
2: 152,759,279 (GRCm39) |
V350A |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,114,627 (GRCm39) |
S870R |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,474,579 (GRCm39) |
K358* |
probably null |
Het |
| Or51b4 |
A |
G |
7: 103,531,339 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or52n2c |
A |
T |
7: 104,574,971 (GRCm39) |
|
probably benign |
Het |
| Or7a40 |
T |
C |
16: 16,491,390 (GRCm39) |
T152A |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,726,685 (GRCm39) |
R302G |
probably benign |
Het |
| Orai3 |
A |
G |
7: 127,372,725 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,615,569 (GRCm39) |
N859S |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,454,384 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
C |
T |
2: 144,423,940 (GRCm39) |
R530W |
probably damaging |
Het |
| Slc25a35 |
T |
C |
11: 68,859,496 (GRCm39) |
F3S |
probably damaging |
Het |
| Slc7a11 |
A |
T |
3: 50,326,788 (GRCm39) |
I491K |
possibly damaging |
Het |
| Srrt |
A |
T |
5: 137,298,106 (GRCm39) |
N317K |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,450,592 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
C |
15: 54,909,195 (GRCm39) |
D683E |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,164,509 (GRCm39) |
C272S |
probably damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,850,173 (GRCm39) |
|
probably benign |
Het |
| Tg |
G |
T |
15: 66,586,955 (GRCm39) |
V1578F |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,457,682 (GRCm39) |
G188D |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,771,642 (GRCm39) |
Y147C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,642,521 (GRCm39) |
D11592V |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,475,329 (GRCm39) |
I842N |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,511,258 (GRCm39) |
T89S |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,950,355 (GRCm39) |
M928T |
probably damaging |
Het |
| Usp43 |
A |
G |
11: 67,770,802 (GRCm39) |
S611P |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,626,958 (GRCm39) |
V1000A |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,566,824 (GRCm39) |
C380R |
probably damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,605,413 (GRCm39) |
C14G |
probably damaging |
Het |
|
| Other mutations in Tnfrsf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Tnfrsf8
|
APN |
4 |
145,019,161 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation