Incidental Mutation 'R8554:Tnfrsf8'
ID |
660011 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnfrsf8
|
Ensembl Gene |
ENSMUSG00000028602 |
Gene Name |
tumor necrosis factor receptor superfamily, member 8 |
Synonyms |
CD30 |
MMRRC Submission |
068517-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R8554 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
144993707-145041734 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 145023511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tryptophan
at position 107
(C107W)
|
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: C107W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030339 Gene: ENSMUSG00000028602 AA Change: C107W
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 |
possibly damaging
Transcript: ENSMUST00000123027
AA Change: C107W
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118714 Gene: ENSMUSG00000028602 AA Change: C107W
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
G |
A |
13: 41,969,636 (GRCm39) |
T89I |
possibly damaging |
Het |
Aopep |
T |
A |
13: 63,444,711 (GRCm39) |
Y94N |
possibly damaging |
Het |
Apc |
T |
C |
18: 34,445,999 (GRCm39) |
V947A |
probably damaging |
Het |
Apob |
A |
C |
12: 8,037,830 (GRCm39) |
K334N |
probably damaging |
Het |
Camk2d |
A |
T |
3: 126,564,448 (GRCm39) |
Q119L |
possibly damaging |
Het |
Ccdc60 |
A |
T |
5: 116,328,171 (GRCm39) |
F98I |
probably damaging |
Het |
Cd47 |
A |
G |
16: 49,688,304 (GRCm39) |
T22A |
probably benign |
Het |
Crat |
A |
G |
2: 30,300,035 (GRCm39) |
V115A |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,507,538 (GRCm39) |
M2992V |
probably benign |
Het |
Dsg4 |
T |
A |
18: 20,586,100 (GRCm39) |
N263K |
probably damaging |
Het |
Eln |
A |
C |
5: 134,738,964 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,523,228 (GRCm39) |
E1284G |
unknown |
Het |
Fam193a |
T |
A |
5: 34,633,115 (GRCm39) |
M122K |
probably benign |
Het |
Fcgr1 |
A |
T |
3: 96,199,788 (GRCm39) |
W40R |
probably damaging |
Het |
Gm3486 |
T |
A |
14: 41,209,119 (GRCm39) |
Q84L |
probably damaging |
Het |
Golga2 |
G |
A |
2: 32,183,357 (GRCm39) |
D80N |
probably damaging |
Het |
Isg20 |
T |
C |
7: 78,566,425 (GRCm39) |
Y125H |
probably benign |
Het |
Kdf1 |
A |
G |
4: 133,256,188 (GRCm39) |
I302V |
probably damaging |
Het |
Kics2 |
T |
A |
10: 121,575,960 (GRCm39) |
I27N |
probably benign |
Het |
Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 41,234,495 (GRCm39) |
Q1038L |
probably benign |
Het |
Marchf6 |
G |
A |
15: 31,482,976 (GRCm39) |
H476Y |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,343,448 (GRCm39) |
E215G |
possibly damaging |
Het |
Or2aa1 |
A |
T |
11: 59,480,312 (GRCm39) |
L201Q |
possibly damaging |
Het |
Or2h15 |
T |
A |
17: 38,441,489 (GRCm39) |
Q198L |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,595 (GRCm39) |
T148A |
possibly damaging |
Het |
Pate11 |
A |
G |
9: 36,387,788 (GRCm39) |
I25V |
probably benign |
Het |
Pdlim2 |
T |
A |
14: 70,408,698 (GRCm39) |
T173S |
probably benign |
Het |
Pitpnb |
T |
C |
5: 111,494,372 (GRCm39) |
M74T |
probably benign |
Het |
Pou2f2 |
C |
A |
7: 24,814,981 (GRCm39) |
|
probably benign |
Het |
Rab35 |
A |
C |
5: 115,783,690 (GRCm39) |
|
probably null |
Het |
Rasef |
A |
T |
4: 73,645,844 (GRCm39) |
D508E |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,682,838 (GRCm39) |
S319P |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rgl3 |
A |
G |
9: 21,900,159 (GRCm39) |
S44P |
probably benign |
Het |
Rnf214 |
C |
A |
9: 45,778,797 (GRCm39) |
|
probably null |
Het |
Rpsa |
T |
C |
9: 119,958,317 (GRCm39) |
V76A |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Senp7 |
T |
C |
16: 55,978,973 (GRCm39) |
V529A |
probably benign |
Het |
Siglecg |
C |
T |
7: 43,058,320 (GRCm39) |
S69L |
probably benign |
Het |
Sos1 |
G |
T |
17: 80,705,842 (GRCm39) |
T1243K |
probably damaging |
Het |
Tent5a |
T |
C |
9: 85,208,784 (GRCm39) |
D13G |
possibly damaging |
Het |
Tlcd3a |
A |
G |
11: 76,096,244 (GRCm39) |
H124R |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,106,084 (GRCm39) |
T872A |
probably benign |
Het |
Tnn |
T |
C |
1: 159,937,986 (GRCm39) |
Y913C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,568,376 (GRCm39) |
T19179A |
probably damaging |
Het |
Usp42 |
T |
A |
5: 143,706,137 (GRCm39) |
K294N |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,971 (GRCm39) |
C288S |
probably benign |
Het |
Vmn1r29 |
T |
A |
6: 58,285,191 (GRCm39) |
*304K |
probably null |
Het |
Vmn2r1 |
T |
C |
3: 63,997,334 (GRCm39) |
I330T |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,511,997 (GRCm39) |
I735V |
probably benign |
Het |
Vmn2r65 |
T |
C |
7: 84,595,960 (GRCm39) |
I241M |
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 |
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 |
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'- GATGCTGCACACATCACAG -3'
(R):5'- AGCCAACTGGTCTGACAGAG -3'
Sequencing Primer
(F):5'- GAGAGAAGCTTCGACCTGTTTATCC -3'
(R):5'- ACAGAGGGTCATGTGGCATCTTAC -3'
|
Posted On |
2021-01-18 |