Incidental Mutation 'R1124:Tnfrsf1b'
| ID |
95946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf1b
|
| Ensembl Gene |
ENSMUSG00000028599 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 1b |
| Synonyms |
CD120b, TNFBR, TNFR80, p75, TNFalpha-R2, TNFRII, p75 TNFR, TNF-R2, TNF-R-II, TNF-alphaR2, Tnfr2, TNF-R75 |
| MMRRC Submission |
039197-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R1124 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144940033-144973440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144950926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 229
(L229Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030336]
[ENSMUST00000143055]
|
| AlphaFold |
P25119 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030336
AA Change: L229Q
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: L229Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
TNFR
|
40 |
76 |
2.15e-9 |
SMART |
|
TNFR
|
79 |
119 |
2.19e-10 |
SMART |
|
TNFR
|
121 |
163 |
7.27e-7 |
SMART |
|
TNFR
|
166 |
202 |
2.22e-2 |
SMART |
|
transmembrane domain
|
263 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143055
|
| SMART Domains |
Protein: ENSMUSP00000115702
Gene: ENSMUSG00000028599
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.6%
|
| 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 protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,384,039 (GRCm39) |
R642Q |
possibly damaging |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,772,639 (GRCm39) |
T48A |
probably benign |
Het |
| Aadacl4fm1 |
A |
G |
4: 144,255,194 (GRCm39) |
T205A |
probably benign |
Het |
| Aadacl4fm4 |
T |
C |
4: 144,396,845 (GRCm39) |
S296G |
probably benign |
Het |
| Anxa10 |
C |
T |
8: 62,514,038 (GRCm39) |
|
probably null |
Het |
| Bcl11a |
A |
T |
11: 24,113,928 (GRCm39) |
M424L |
probably damaging |
Het |
| Bhlhe41 |
A |
G |
6: 145,809,456 (GRCm39) |
S119P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,071,888 (GRCm39) |
D1033G |
probably benign |
Het |
| Ccdc174 |
T |
C |
6: 91,876,561 (GRCm39) |
V466A |
probably benign |
Het |
| Dnaaf11 |
T |
A |
15: 66,310,264 (GRCm39) |
T335S |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,306,940 (GRCm39) |
Y9H |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,105,236 (GRCm39) |
I310F |
possibly damaging |
Het |
| Grm3 |
C |
T |
5: 9,620,297 (GRCm39) |
V316I |
probably benign |
Het |
| Gys2 |
A |
G |
6: 142,391,739 (GRCm39) |
Y508H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,765,063 (GRCm39) |
D2921V |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 140,294,547 (GRCm39) |
K71R |
probably damaging |
Het |
| Myh7 |
A |
T |
14: 55,211,327 (GRCm39) |
V1614E |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or8k23 |
T |
A |
2: 86,186,239 (GRCm39) |
K162N |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,722,731 (GRCm39) |
N87I |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,257,115 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
A |
G |
5: 136,134,510 (GRCm39) |
N627S |
probably benign |
Het |
| Spata31d1b |
A |
C |
13: 59,864,468 (GRCm39) |
M539L |
probably benign |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,525 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,714,758 (GRCm39) |
V443E |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,485,733 (GRCm39) |
V2948L |
probably damaging |
Het |
| Vmn1r204 |
A |
T |
13: 22,741,209 (GRCm39) |
Y280F |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r93 |
G |
T |
17: 18,518,710 (GRCm39) |
K56N |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,885,918 (GRCm39) |
I880V |
probably benign |
Het |
| Zfp106 |
C |
T |
2: 120,365,195 (GRCm39) |
G404E |
probably benign |
Het |
|
| Other mutations in Tnfrsf1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Tnfrsf1b
|
APN |
4 |
144,951,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01716:Tnfrsf1b
|
APN |
4 |
144,942,493 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01974:Tnfrsf1b
|
APN |
4 |
144,942,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02631:Tnfrsf1b
|
APN |
4 |
144,951,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Tnfrsf1b
|
UTSW |
4 |
144,949,536 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0135:Tnfrsf1b
|
UTSW |
4 |
144,955,616 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0194:Tnfrsf1b
|
UTSW |
4 |
144,951,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0761:Tnfrsf1b
|
UTSW |
4 |
144,942,670 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1696:Tnfrsf1b
|
UTSW |
4 |
144,954,044 (GRCm39) |
missense |
probably benign |
|
|
R3692:Tnfrsf1b
|
UTSW |
4 |
144,954,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4248:Tnfrsf1b
|
UTSW |
4 |
144,942,535 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4409:Tnfrsf1b
|
UTSW |
4 |
144,950,855 (GRCm39) |
nonsense |
probably null |
|
|
R4957:Tnfrsf1b
|
UTSW |
4 |
144,973,328 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4957:Tnfrsf1b
|
UTSW |
4 |
144,973,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5180:Tnfrsf1b
|
UTSW |
4 |
144,954,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5425:Tnfrsf1b
|
UTSW |
4 |
144,955,678 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6163:Tnfrsf1b
|
UTSW |
4 |
144,946,477 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7055:Tnfrsf1b
|
UTSW |
4 |
144,951,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7891:Tnfrsf1b
|
UTSW |
4 |
144,955,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:Tnfrsf1b
|
UTSW |
4 |
144,946,485 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8919:Tnfrsf1b
|
UTSW |
4 |
144,950,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Tnfrsf1b
|
UTSW |
4 |
144,942,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTCTACCAATGGGCTACAGCCTC -3'
(R):5'- GGATGACTTGAGCAGGAACCTGAC -3'
Sequencing Primer
(F):5'- actaagttgcccagattgacc -3'
(R):5'- AGAAGCCCATACTCATTGCTTGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation