Incidental Mutation 'R8096:Tnfsf13'
| ID |
630206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfsf13
|
| Ensembl Gene |
ENSMUSG00000089669 |
| Gene Name |
tumor necrosis factor (ligand) superfamily, member 13 |
| Synonyms |
2310026N09Rik, TRDL1, TALL2, APRIL |
| MMRRC Submission |
067528-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8096 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69573672-69576610 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69575983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 35
(C35R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005336]
[ENSMUST00000018896]
[ENSMUST00000066760]
[ENSMUST00000108648]
[ENSMUST00000108649]
[ENSMUST00000174159]
[ENSMUST00000180587]
[ENSMUST00000181261]
[ENSMUST00000181810]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005336
|
| SMART Domains |
Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
195 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
394 |
566 |
4.9e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018896
AA Change: C35R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018896
Gene: ENSMUSG00000089669
AA Change: C35R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TNF
|
39 |
87 |
1e-22 |
BLAST |
|
low complexity region
|
101 |
106 |
N/A |
INTRINSIC |
|
TNF
|
107 |
240 |
7.41e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066760
|
| SMART Domains |
Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
195 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
394 |
566 |
4.9e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108648
AA Change: C35R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104288
Gene: ENSMUSG00000089669
AA Change: C35R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TNF
|
39 |
87 |
1e-22 |
BLAST |
|
TNF
|
97 |
224 |
6.21e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108649
|
| SMART Domains |
Protein: ENSMUSP00000104289
Gene: ENSMUSG00000018752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
|
PDB:4HT1|T
|
110 |
166 |
1e-31 |
PDB |
|
Blast:TNF
|
117 |
166 |
4e-27 |
BLAST |
|
low complexity region
|
190 |
195 |
N/A |
INTRINSIC |
|
TNF
|
196 |
329 |
7.41e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174159
|
| SMART Domains |
Protein: ENSMUSP00000133951
Gene: ENSMUSG00000018752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
|
TNF
|
117 |
255 |
6.18e-10 |
SMART |
|
low complexity region
|
269 |
274 |
N/A |
INTRINSIC |
|
TNF
|
275 |
408 |
7.41e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180587
|
| SMART Domains |
Protein: ENSMUSP00000137973
Gene: ENSMUSG00000018752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
TNF
|
118 |
256 |
6.18e-10 |
SMART |
|
low complexity region
|
270 |
275 |
N/A |
INTRINSIC |
|
TNF
|
276 |
410 |
1.91e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181261
|
| SMART Domains |
Protein: ENSMUSP00000137916
Gene: ENSMUSG00000097328
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
71 |
N/A |
INTRINSIC |
|
Blast:TNF
|
72 |
98 |
8e-8 |
BLAST |
|
PDB:4HT1|T
|
72 |
98 |
1e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181810
|
| SMART Domains |
Protein: ENSMUSP00000137972
Gene: ENSMUSG00000097328
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
|
TNF
|
117 |
248 |
3.67e-35 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
98% (44/45) |
| 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 tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous null mice are viable and fertile. No apparent defects of the immune system have been reported. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
A |
14: 54,882,726 (GRCm39) |
A999V |
possibly damaging |
Het |
| Actn4 |
A |
G |
7: 28,594,008 (GRCm39) |
I833T |
possibly damaging |
Het |
| Actn4 |
C |
A |
7: 28,601,338 (GRCm39) |
R470L |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,127,700 (GRCm39) |
I580N |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 68,021,982 (GRCm39) |
T203S |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,436,890 (GRCm39) |
Y824C |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,825,657 (GRCm39) |
V506A |
possibly damaging |
Het |
| Cdk17 |
T |
G |
10: 93,052,229 (GRCm39) |
M103R |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,455,446 (GRCm39) |
E449V |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,007,160 (GRCm39) |
Y834H |
possibly damaging |
Het |
| Dynlrb2 |
A |
G |
8: 117,234,256 (GRCm39) |
T7A |
possibly damaging |
Het |
| Ggcx |
G |
A |
6: 72,406,976 (GRCm39) |
R704Q |
probably benign |
Het |
| Gpr87 |
A |
T |
3: 59,087,229 (GRCm39) |
L92Q |
possibly damaging |
Het |
| Grik1 |
C |
T |
16: 87,803,355 (GRCm39) |
G279E |
|
Het |
| Igsf10 |
G |
T |
3: 59,236,380 (GRCm39) |
T1267N |
probably damaging |
Het |
| Mrc2 |
G |
T |
11: 105,234,333 (GRCm39) |
R951L |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,575,764 (GRCm39) |
S1755T |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,403,292 (GRCm39) |
V751A |
unknown |
Het |
| Or10a3 |
A |
T |
7: 108,480,248 (GRCm39) |
C188* |
probably null |
Het |
| Or1l4 |
T |
A |
2: 37,092,078 (GRCm39) |
V275E |
probably damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,056 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,762,975 (GRCm39) |
Y531C |
|
Het |
| Pigr |
A |
G |
1: 130,774,247 (GRCm39) |
E409G |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rsph14 |
T |
A |
10: 74,795,493 (GRCm39) |
I231F |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,708,626 (GRCm39) |
S4812P |
unknown |
Het |
| Scgb2b24 |
T |
A |
7: 33,438,646 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
A |
2: 65,594,366 (GRCm39) |
H1738Q |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,934,558 (GRCm39) |
D678E |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,590,417 (GRCm39) |
F370S |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,255,279 (GRCm39) |
D823E |
probably damaging |
Het |
| Srrm3 |
T |
A |
5: 135,898,094 (GRCm39) |
I555N |
unknown |
Het |
| Stx19 |
A |
C |
16: 62,642,524 (GRCm39) |
E113D |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,663 (GRCm39) |
Y91N |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,715,927 (GRCm39) |
M1180I |
possibly damaging |
Het |
| Tnn |
C |
T |
1: 159,950,411 (GRCm39) |
A732T |
probably damaging |
Het |
| Tpra1 |
C |
T |
6: 88,888,699 (GRCm39) |
Q294* |
probably null |
Het |
| Trim24 |
G |
T |
6: 37,935,592 (GRCm39) |
S895I |
probably benign |
Het |
| Trim68 |
A |
G |
7: 102,327,649 (GRCm39) |
S435P |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
| Zfp280d |
T |
C |
9: 72,226,560 (GRCm39) |
C335R |
probably damaging |
Het |
| Zfp958 |
G |
T |
8: 4,663,273 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tnfsf13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1517:Tnfsf13
|
UTSW |
11 |
69,575,564 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1745:Tnfsf13
|
UTSW |
11 |
69,575,973 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4825:Tnfsf13
|
UTSW |
11 |
69,576,075 (GRCm39) |
nonsense |
probably null |
|
|
R5613:Tnfsf13
|
UTSW |
11 |
69,574,821 (GRCm39) |
splice site |
probably null |
|
|
R6254:Tnfsf13
|
UTSW |
11 |
69,575,309 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7027:Tnfsf13
|
UTSW |
11 |
69,575,958 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7778:Tnfsf13
|
UTSW |
11 |
69,575,989 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8094:Tnfsf13
|
UTSW |
11 |
69,575,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8095:Tnfsf13
|
UTSW |
11 |
69,575,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8392:Tnfsf13
|
UTSW |
11 |
69,574,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Tnfsf13
|
UTSW |
11 |
69,576,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGATTGAGAGGCTCTGAG -3'
(R):5'- AGAGTGTCACTAGCTCGACC -3'
Sequencing Primer
(F):5'- ATTGAGAGGCTCTGAGACCCC -3'
(R):5'- TCACTAGCTCGACCCTGGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation