Incidental Mutation 'R8255:Tnfrsf8'
ID |
640598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnfrsf8
|
Ensembl Gene |
ENSMUSG00000028602 |
Gene Name |
tumor necrosis factor receptor superfamily, member 8 |
Synonyms |
CD30 |
MMRRC Submission |
067681-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R8255 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
144993707-145041734 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 145041653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030339
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030339]
[ENSMUST00000123027]
|
AlphaFold |
Q60846 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030339
AA Change: M1K
|
SMART Domains |
Protein: ENSMUSP00000030339 Gene: ENSMUSG00000028602 AA Change: M1K
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 null
Transcript: ENSMUST00000123027
AA Change: M1K
|
SMART Domains |
Protein: ENSMUSP00000118714 Gene: ENSMUSG00000028602 AA Change: M1K
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (46/46) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,415,850 (GRCm39) |
T648S |
possibly damaging |
Het |
Abca12 |
T |
A |
1: 71,359,058 (GRCm39) |
I583F |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,948,926 (GRCm39) |
M1732L |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,740,398 (GRCm39) |
S1742P |
unknown |
Het |
Birc6 |
G |
A |
17: 74,969,775 (GRCm39) |
A4273T |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,463,880 (GRCm39) |
T1450A |
probably damaging |
Het |
Dhx32 |
T |
C |
7: 133,339,120 (GRCm39) |
N305S |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,698,589 (GRCm39) |
S2174P |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,161,101 (GRCm39) |
I3210F |
probably benign |
Het |
Gm12888 |
A |
G |
4: 121,181,994 (GRCm39) |
S33P |
probably damaging |
Het |
Gpaa1 |
T |
C |
15: 76,217,438 (GRCm39) |
L292P |
probably damaging |
Het |
Gzmg |
T |
A |
14: 56,395,753 (GRCm39) |
R69W |
probably damaging |
Het |
Hat1 |
A |
G |
2: 71,239,347 (GRCm39) |
D40G |
probably damaging |
Het |
Hcrtr2 |
T |
A |
9: 76,140,203 (GRCm39) |
I362F |
probably damaging |
Het |
Hmmr |
T |
C |
11: 40,598,262 (GRCm39) |
E650G |
probably damaging |
Het |
Ifi35 |
A |
T |
11: 101,348,608 (GRCm39) |
M180L |
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,451,619 (GRCm39) |
H162Q |
probably benign |
Het |
Il1rl2 |
T |
C |
1: 40,404,471 (GRCm39) |
F531L |
probably damaging |
Het |
Ipcef1 |
T |
G |
10: 6,870,007 (GRCm39) |
K182T |
probably benign |
Het |
Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
Med31 |
G |
A |
11: 72,106,294 (GRCm39) |
|
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,099,700 (GRCm39) |
T67A |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,985,848 (GRCm39) |
E1266G |
probably damaging |
Het |
Nkx2-4 |
C |
A |
2: 146,925,924 (GRCm39) |
E313* |
probably null |
Het |
Nol6 |
G |
T |
4: 41,120,168 (GRCm39) |
R487S |
probably benign |
Het |
Or2v1 |
C |
A |
11: 49,025,307 (GRCm39) |
A96D |
probably benign |
Het |
Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
Or4k15c |
C |
T |
14: 50,321,329 (GRCm39) |
V270I |
noncoding transcript |
Het |
Or5p51 |
A |
G |
7: 107,444,368 (GRCm39) |
S191P |
probably damaging |
Het |
Rnf135 |
A |
G |
11: 80,084,713 (GRCm39) |
D162G |
probably benign |
Het |
Sdr42e1 |
G |
T |
8: 118,390,502 (GRCm39) |
N46K |
probably benign |
Het |
Skor2 |
T |
C |
18: 76,946,664 (GRCm39) |
S129P |
unknown |
Het |
Slc7a11 |
A |
T |
3: 50,382,177 (GRCm39) |
I190N |
probably damaging |
Het |
Smc5 |
A |
T |
19: 23,186,290 (GRCm39) |
F1056I |
|
Het |
Son |
A |
T |
16: 91,461,824 (GRCm39) |
Q2243L |
unknown |
Het |
Sult1a1 |
T |
A |
7: 126,274,280 (GRCm39) |
I101F |
possibly damaging |
Het |
Sult3a2 |
T |
C |
10: 33,655,747 (GRCm39) |
I77M |
probably benign |
Het |
Tas1r1 |
A |
T |
4: 152,116,774 (GRCm39) |
S287T |
probably benign |
Het |
Thbs3 |
A |
C |
3: 89,132,565 (GRCm39) |
T836P |
probably benign |
Het |
Tlcd3b |
G |
A |
7: 126,423,275 (GRCm39) |
V6M |
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Vmn1r121 |
T |
G |
7: 20,831,679 (GRCm39) |
N254H |
probably benign |
Het |
Vmn1r179 |
C |
T |
7: 23,628,436 (GRCm39) |
A209V |
probably benign |
Het |
Wdr31 |
A |
T |
4: 62,381,634 (GRCm39) |
S66T |
probably benign |
Het |
Zbtb18 |
T |
C |
1: 177,275,003 (GRCm39) |
V121A |
probably damaging |
Het |
Zfp30 |
T |
A |
7: 29,488,826 (GRCm39) |
M82K |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,765,955 (GRCm39) |
Q1494R |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTTATCCACCCACCTGTG -3'
(R):5'- AGTCATCTCTGCACGTGGTG -3'
Sequencing Primer
(F):5'- CACCTGTGGATGCTTGCATATTTTAG -3'
(R):5'- CTCTCTTAGGCTTCACAGGC -3'
|
Posted On |
2020-07-28 |