Incidental Mutation 'R4248:Tnfrsf1b'
| ID |
320490 |
| 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 |
041064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R4248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144940033-144973440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 144942535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 416
(A416V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030336]
|
| AlphaFold |
P25119 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030336
AA Change: A416V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: A416V
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Alox12b |
G |
A |
11: 69,054,431 (GRCm39) |
V250I |
probably benign |
Het |
| Armt1 |
T |
C |
10: 4,389,687 (GRCm39) |
F115L |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,850,474 (GRCm39) |
F536L |
probably benign |
Het |
| Fbxo25 |
T |
C |
8: 13,989,617 (GRCm39) |
S355P |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gapt |
C |
A |
13: 110,490,289 (GRCm39) |
V125F |
probably damaging |
Het |
| Gucd1 |
A |
T |
10: 75,345,662 (GRCm39) |
V131E |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,299 (GRCm39) |
E1299G |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,717,909 (GRCm39) |
D342G |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,273,489 (GRCm39) |
R2349H |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,822,220 (GRCm39) |
R2896Q |
possibly damaging |
Het |
| Moxd2 |
A |
C |
6: 40,855,933 (GRCm39) |
I552S |
probably damaging |
Het |
| Nkx1-2 |
TGGTGAGAGGGGGCCGCCTTGGCCCCG |
TG |
7: 132,201,209 (GRCm39) |
|
probably null |
Het |
| Onecut3 |
A |
G |
10: 80,349,963 (GRCm39) |
T486A |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pirb |
A |
G |
7: 3,722,297 (GRCm39) |
F182S |
probably damaging |
Het |
| Rev1 |
C |
T |
1: 38,146,729 (GRCm39) |
R34H |
possibly damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,100,351 (GRCm39) |
H389R |
possibly damaging |
Het |
| Ust |
A |
T |
10: 8,393,982 (GRCm39) |
L61Q |
possibly damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,376 (GRCm39) |
K168N |
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 |
|
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 |
|
|
R3692:Tnfrsf1b
|
UTSW |
4 |
144,954,092 (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'- GGCCACTTTGACTGCAATCTG -3'
(R):5'- GGCCTATTGCTCTAACCTGC -3'
Sequencing Primer
(F):5'- TGATCAAACCAGCCAGCTTGG -3'
(R):5'- TAACCTGCCCCTGGGACAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation