Incidental Mutation 'IGL02631:Tnfrsf1b'
| ID |
301292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
IGL02631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144940033-144973440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144951398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 181
(C181S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030336]
[ENSMUST00000143055]
|
| AlphaFold |
P25119 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030336
AA Change: C181S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: C181S
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
A |
G |
6: 113,725,506 (GRCm39) |
S1242P |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,290,987 (GRCm39) |
Y81* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,893,277 (GRCm39) |
D160G |
possibly damaging |
Het |
| Cep97 |
A |
T |
16: 55,742,541 (GRCm39) |
C135* |
probably null |
Het |
| Cog1 |
C |
T |
11: 113,547,304 (GRCm39) |
Q633* |
probably null |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,609 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
A |
3: 103,063,387 (GRCm39) |
M608K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,859 (GRCm39) |
S855P |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,160,095 (GRCm39) |
I1457T |
probably damaging |
Het |
| Fam149b |
G |
A |
14: 20,425,614 (GRCm39) |
V300M |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,723 (GRCm39) |
L261Q |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,610,384 (GRCm39) |
S413* |
probably null |
Het |
| Flt3 |
T |
G |
5: 147,281,362 (GRCm39) |
D790A |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,276,152 (GRCm39) |
|
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,835 (GRCm39) |
K281R |
probably benign |
Het |
| Hoxa5 |
G |
A |
6: 52,180,790 (GRCm39) |
R181C |
probably damaging |
Het |
| Irx4 |
C |
T |
13: 73,416,596 (GRCm39) |
R331W |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,432 (GRCm39) |
I155T |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,459,276 (GRCm39) |
R1944C |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,255 (GRCm39) |
N141S |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,599 (GRCm39) |
V143E |
possibly damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,786 (GRCm39) |
N294I |
probably damaging |
Het |
| Papss2 |
T |
A |
19: 32,611,404 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,990,533 (GRCm39) |
M915K |
possibly damaging |
Het |
| Raver2 |
A |
C |
4: 100,953,499 (GRCm39) |
D89A |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,379,644 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Slc25a12 |
C |
T |
2: 71,127,086 (GRCm39) |
G365E |
possibly damaging |
Het |
| Slc35e4 |
A |
C |
11: 3,857,729 (GRCm39) |
V292G |
probably damaging |
Het |
| Slc36a4 |
T |
C |
9: 15,638,237 (GRCm39) |
V221A |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,292,827 (GRCm39) |
A153S |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,991,204 (GRCm39) |
D658G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab3 |
A |
G |
X: 84,658,139 (GRCm39) |
N222S |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,937,110 (GRCm39) |
T1313S |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,239,972 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,729 (GRCm39) |
V526E |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,709,417 (GRCm39) |
D311G |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,959,912 (GRCm39) |
I507V |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,569,222 (GRCm39) |
D959A |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,992,026 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
G |
10: 12,585,807 (GRCm39) |
F990S |
probably benign |
Het |
| V1rd19 |
T |
C |
7: 23,702,825 (GRCm39) |
L97P |
probably damaging |
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 |
|
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 |
|
R1124:Tnfrsf1b
|
UTSW |
4 |
144,950,926 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation