Incidental Mutation 'R3692:Tnfrsf1b'
| ID |
268810 |
| 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 |
040687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R3692 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144940033-144973440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 144954092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 86
(Q86K)
|
| 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: Q86K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: Q86K
| 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 |
|
| Meta Mutation Damage Score |
0.0759 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (42/43) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
T |
C |
5: 121,657,385 (GRCm39) |
D636G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,672,719 (GRCm39) |
V2218A |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,240,327 (GRCm39) |
Y752N |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,160,335 (GRCm39) |
D598G |
probably damaging |
Het |
| Calca |
T |
C |
7: 114,233,796 (GRCm39) |
E45G |
probably damaging |
Het |
| Cdk8 |
C |
T |
5: 146,220,478 (GRCm39) |
R166* |
probably null |
Het |
| Chsy1 |
T |
A |
7: 65,821,001 (GRCm39) |
M412K |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,988,338 (GRCm39) |
Y1675* |
probably null |
Het |
| Col1a2 |
T |
A |
6: 4,510,710 (GRCm39) |
D53E |
possibly damaging |
Het |
| Dennd6b |
A |
G |
15: 89,071,030 (GRCm39) |
|
probably benign |
Het |
| Fut10 |
T |
A |
8: 31,726,048 (GRCm39) |
Y268N |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,060,846 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,642,076 (GRCm39) |
N697I |
probably damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,438 (GRCm39) |
S198P |
possibly damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,857 (GRCm39) |
V213A |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,928,998 (GRCm39) |
N959S |
probably damaging |
Het |
| Mat1a |
A |
G |
14: 40,843,338 (GRCm39) |
Y288C |
probably damaging |
Het |
| Mtif2 |
A |
T |
11: 29,490,718 (GRCm39) |
H474L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,744 (GRCm39) |
I1512V |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,280,240 (GRCm39) |
R31W |
probably benign |
Het |
| Or14c46 |
T |
A |
7: 85,918,703 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or4a69 |
T |
A |
2: 89,313,240 (GRCm39) |
M80L |
probably benign |
Het |
| Pcdhb16 |
C |
A |
18: 37,611,340 (GRCm39) |
T100K |
probably benign |
Het |
| Pcdhga10 |
T |
C |
18: 37,881,384 (GRCm39) |
C382R |
probably damaging |
Het |
| Pdgfra |
A |
T |
5: 75,349,948 (GRCm39) |
Y944F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,625,353 (GRCm39) |
I741T |
possibly damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,241,760 (GRCm39) |
D845G |
unknown |
Het |
| Rfk |
C |
A |
19: 17,376,834 (GRCm39) |
|
probably null |
Het |
| Rgs11 |
C |
T |
17: 26,423,302 (GRCm39) |
|
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,705 (GRCm39) |
V951A |
probably benign |
Het |
| St3gal5 |
T |
C |
6: 72,126,013 (GRCm39) |
V286A |
probably benign |
Het |
| St7l |
T |
C |
3: 104,798,870 (GRCm39) |
M320T |
probably benign |
Het |
| Tox |
T |
C |
4: 6,697,535 (GRCm39) |
I423V |
probably benign |
Het |
| Tpbpa |
T |
A |
13: 61,087,827 (GRCm39) |
H88L |
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,068 (GRCm39) |
Y62C |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,970,526 (GRCm39) |
I399M |
probably damaging |
Het |
| Zfp948 |
T |
G |
17: 21,807,838 (GRCm39) |
D343E |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,863,076 (GRCm39) |
|
noncoding transcript |
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 |
|
R1124:Tnfrsf1b
|
UTSW |
4 |
144,950,926 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1696:Tnfrsf1b
|
UTSW |
4 |
144,954,044 (GRCm39) |
missense |
probably benign |
|
|
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'- AGTCTCCCGCAACTCAAGTC -3'
(R):5'- CGAGTGGTGGTGTTTCAACTACC -3'
Sequencing Primer
(F):5'- GCAACTCAAGTCCTGGAAGACG -3'
(R):5'- TGTTTCAACTACCTGGAGAGAGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation