Incidental Mutation 'R7708:Tnf'
| ID |
594422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnf
|
| Ensembl Gene |
ENSMUSG00000024401 |
| Gene Name |
tumor necrosis factor |
| Synonyms |
DIF, TNF alpha, TNFalpha, Tnfsf1a, Tnfa, tumor necrosis factor-alpha, TNF-alpha |
| MMRRC Submission |
045709-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35418357-35420983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 35419134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 232
(V232G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025262]
[ENSMUST00000025263]
[ENSMUST00000025266]
[ENSMUST00000167924]
[ENSMUST00000173600]
|
| AlphaFold |
P06804 |
| PDB Structure |
1.4 A RESOLUTION STRUCTURE OF MOUSE TUMOR NECROSIS FACTOR, TOWARDS MODULATION OF ITS SELCTIVITY AND TRIMERISATION [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025262
|
| SMART Domains |
Protein: ENSMUSP00000025262
Gene: ENSMUSG00000024399
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
|
TNF
|
154 |
305 |
8.76e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025263
AA Change: V232G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025263
Gene: ENSMUSG00000024401
AA Change: V232G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
TNF
|
91 |
235 |
1.59e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025266
|
| SMART Domains |
Protein: ENSMUSP00000025266
Gene: ENSMUSG00000024402
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
TNF
|
60 |
202 |
5.38e-51 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167924
AA Change: V216G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126122
Gene: ENSMUSG00000024401
AA Change: V216G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
TNF
|
74 |
219 |
2.8e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173600
|
| SMART Domains |
Protein: ENSMUSP00000134706
Gene: ENSMUSG00000024399
| Domain | Start | End | E-Value | Type |
|---|
|
TNF
|
33 |
184 |
8.76e-42 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. Members of this family are classified based on primary sequence, function, and structure. This protein is synthesized as a type-II transmembrane protein and is reported to be cleaved into products that exert distinct biological functions. It plays an important role in the innate immune response as well as regulating homeostasis but is also implicated in diseases of chronic inflammation. In mouse deficiency of this gene is associated with defects in response to bacterial infection, with defects in forming organized follicular dendritic cell networks and germinal centers, and with a lack of primary B cell follicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mutations at this locus primarily affect the immune system, causing increased susceptibility to infection, failure to form splenic B-cell follicles, increased inflammation and impaired contact hypersensitivity. Homozygotes also may show metabolic defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(23) : Targeted(20) Spontaneous(2) Chemically induced(1)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
G |
3: 59,772,756 (GRCm39) |
S87G |
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,133,558 (GRCm39) |
H342R |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,024,721 (GRCm39) |
Y315C |
probably damaging |
Het |
| Atp10b |
C |
A |
11: 43,092,970 (GRCm39) |
T435K |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
| Bspry |
G |
T |
4: 62,414,337 (GRCm39) |
C310F |
probably benign |
Het |
| Camk2d |
A |
T |
3: 126,391,089 (GRCm39) |
M1L |
probably benign |
Het |
| Clock |
T |
A |
5: 76,414,256 (GRCm39) |
S19C |
probably benign |
Het |
| Cxxc1 |
G |
T |
18: 74,349,314 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
G |
C |
11: 104,855,397 (GRCm39) |
D3816H |
unknown |
Het |
| Ercc6l2 |
T |
A |
13: 63,989,328 (GRCm39) |
C176* |
probably null |
Het |
| Fkbp5 |
A |
G |
17: 28,657,071 (GRCm39) |
F49L |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,974,962 (GRCm39) |
D67V |
|
Het |
| Gpatch2 |
A |
G |
1: 186,964,963 (GRCm39) |
I297V |
probably benign |
Het |
| Gpr135 |
T |
G |
12: 72,116,733 (GRCm39) |
I345L |
probably benign |
Het |
| Gpr89 |
G |
A |
3: 96,787,941 (GRCm39) |
T271I |
possibly damaging |
Het |
| Hip1r |
T |
A |
5: 124,135,532 (GRCm39) |
S503T |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,317,753 (GRCm39) |
C2076* |
probably null |
Het |
| Hoxa2 |
A |
G |
6: 52,141,542 (GRCm39) |
V28A |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,573,991 (GRCm39) |
V765A |
unknown |
Het |
| Krt87 |
T |
C |
15: 101,385,813 (GRCm39) |
M261V |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,554 (GRCm39) |
Y166H |
probably damaging |
Het |
| Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
| Or4f52 |
T |
C |
2: 111,061,863 (GRCm39) |
I92V |
probably damaging |
Het |
| Or52e19 |
T |
C |
7: 102,959,768 (GRCm39) |
L280P |
probably damaging |
Het |
| Or5p80 |
C |
T |
7: 108,230,048 (GRCm39) |
P283L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,300 (GRCm39) |
M94T |
probably damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,681 (GRCm39) |
T213S |
probably damaging |
Het |
| Or8s16 |
A |
T |
15: 98,211,029 (GRCm39) |
M134K |
probably damaging |
Het |
| Orm3 |
A |
T |
4: 63,276,050 (GRCm39) |
E154V |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,804,496 (GRCm39) |
I780N |
possibly damaging |
Het |
| Phf21a |
T |
C |
2: 92,157,511 (GRCm39) |
|
probably null |
Het |
| Polh |
G |
T |
17: 46,483,626 (GRCm39) |
D546E |
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,998,502 (GRCm39) |
D204G |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rpl7l1 |
A |
G |
17: 47,090,271 (GRCm39) |
V121A |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,113,546 (GRCm39) |
T302A |
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,313,512 (GRCm39) |
V1134I |
possibly damaging |
Het |
| Slc10a6 |
C |
T |
5: 103,777,128 (GRCm39) |
|
probably benign |
Het |
| Tmprss11f |
C |
T |
5: 86,672,028 (GRCm39) |
G388D |
probably damaging |
Het |
| Trappc13 |
C |
T |
13: 104,283,845 (GRCm39) |
G302D |
probably benign |
Het |
| Trbj1-7 |
T |
G |
6: 41,512,617 (GRCm39) |
Y14* |
probably null |
Het |
| Vmn1r217 |
T |
C |
13: 23,298,269 (GRCm39) |
H211R |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,755 (GRCm39) |
H73L |
possibly damaging |
Het |
| Zfp827 |
T |
C |
8: 79,902,591 (GRCm39) |
L835S |
probably damaging |
Het |
|
| Other mutations in Tnf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Dome
|
UTSW |
17 |
35,420,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Panr1
|
UTSW |
17 |
35,419,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0783:Tnf
|
UTSW |
17 |
35,420,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0815:Tnf
|
UTSW |
17 |
35,420,120 (GRCm39) |
unclassified |
probably benign |
|
|
R0863:Tnf
|
UTSW |
17 |
35,420,120 (GRCm39) |
unclassified |
probably benign |
|
|
R2195:Tnf
|
UTSW |
17 |
35,420,089 (GRCm39) |
splice site |
probably null |
|
|
R2570:Tnf
|
UTSW |
17 |
35,419,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4660:Tnf
|
UTSW |
17 |
35,419,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6670:Tnf
|
UTSW |
17 |
35,420,800 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7319:Tnf
|
UTSW |
17 |
35,419,347 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8093:Tnf
|
UTSW |
17 |
35,420,072 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGTCCCAGCATCTTGTG -3'
(R):5'- GGAGAAAGTCAACCTCCTCTC -3'
Sequencing Primer
(F):5'- CCCAGCATCTTGTGTTTCTGAGTAG -3'
(R):5'- TCTCTGCCGTCAAGAGCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation