Incidental Mutation 'R3723:Tnfsf13b'
| ID |
270631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfsf13b
|
| Ensembl Gene |
ENSMUSG00000031497 |
| Gene Name |
tumor necrosis factor (ligand) superfamily, member 13b |
| Synonyms |
BLyS, TALL-1, zTNF4, D8Ertd387e, BAFF |
| MMRRC Submission |
040714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R3723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
10056229-10086000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10081545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 236
(I236V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033892]
[ENSMUST00000207792]
[ENSMUST00000208683]
|
| AlphaFold |
Q9WU72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033892
AA Change: I217V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000033892
Gene: ENSMUSG00000031497
AA Change: I217V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
67 |
N/A |
INTRINSIC |
|
TNF
|
169 |
308 |
1.88e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207792
AA Change: I236V
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208770
|
| Meta Mutation Damage Score |
0.1596 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
95% (38/40) |
| 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 cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous null mice have reduced number of B cells and reduced levels of immunoglobulins. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,994,217 (GRCm39) |
V5167A |
possibly damaging |
Het |
| Ano5 |
A |
G |
7: 51,226,276 (GRCm39) |
Y510C |
probably damaging |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,327 (GRCm39) |
Q1570L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,763 (GRCm39) |
N3415S |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,214,772 (GRCm39) |
I361F |
probably damaging |
Het |
| C9 |
G |
A |
15: 6,512,561 (GRCm39) |
E228K |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,731 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,364,256 (GRCm39) |
L269P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,486,505 (GRCm39) |
D3352V |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,658 (GRCm39) |
M3335K |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,221,412 (GRCm39) |
|
probably benign |
Het |
| Glis3 |
A |
T |
19: 28,239,991 (GRCm39) |
C97* |
probably null |
Het |
| Gm14221 |
C |
G |
2: 160,410,347 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8603 |
A |
C |
17: 13,737,075 (GRCm39) |
|
probably null |
Het |
| Gm9767 |
G |
T |
10: 25,954,469 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,102 (GRCm39) |
F78L |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
C |
A |
12: 57,503,878 (GRCm39) |
L349I |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,803,374 (GRCm39) |
V1527A |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,359,522 (GRCm39) |
Y571* |
probably null |
Het |
| Npl |
A |
G |
1: 153,391,210 (GRCm39) |
F182L |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,440,018 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,045 (GRCm39) |
T350A |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,693,251 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,553,252 (GRCm39) |
E148G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,613 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,335 (GRCm39) |
S1035P |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
A |
G |
17: 45,305,274 (GRCm39) |
D108G |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,964,099 (GRCm39) |
S1511G |
probably damaging |
Het |
| Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn1r117 |
T |
A |
7: 20,617,380 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,305,540 (GRCm39) |
|
probably null |
Het |
| Zfp30 |
A |
G |
7: 29,492,778 (GRCm39) |
E344G |
probably damaging |
Het |
|
| Other mutations in Tnfsf13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01016:Tnfsf13b
|
APN |
8 |
10,081,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01383:Tnfsf13b
|
APN |
8 |
10,081,528 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01650:Tnfsf13b
|
APN |
8 |
10,081,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Applecrisp
|
UTSW |
8 |
10,081,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
arrested
|
UTSW |
8 |
10,081,545 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Frozen
|
UTSW |
8 |
10,081,661 (GRCm39) |
splice site |
probably null |
|
|
F5493:Tnfsf13b
|
UTSW |
8 |
10,056,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Tnfsf13b
|
UTSW |
8 |
10,081,661 (GRCm39) |
splice site |
probably null |
|
|
R0723:Tnfsf13b
|
UTSW |
8 |
10,057,166 (GRCm39) |
splice site |
probably null |
|
|
R1435:Tnfsf13b
|
UTSW |
8 |
10,085,358 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1648:Tnfsf13b
|
UTSW |
8 |
10,081,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Tnfsf13b
|
UTSW |
8 |
10,081,661 (GRCm39) |
splice site |
probably null |
|
|
R2266:Tnfsf13b
|
UTSW |
8 |
10,057,306 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5230:Tnfsf13b
|
UTSW |
8 |
10,081,608 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5913:Tnfsf13b
|
UTSW |
8 |
10,056,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6741:Tnfsf13b
|
UTSW |
8 |
10,057,314 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7310:Tnfsf13b
|
UTSW |
8 |
10,081,651 (GRCm39) |
nonsense |
probably null |
|
|
R7882:Tnfsf13b
|
UTSW |
8 |
10,057,078 (GRCm39) |
missense |
not run |
|
|
R8420:Tnfsf13b
|
UTSW |
8 |
10,056,795 (GRCm39) |
start gained |
probably benign |
|
|
R9124:Tnfsf13b
|
UTSW |
8 |
10,056,966 (GRCm39) |
missense |
probably benign |
|
|
R9374:Tnfsf13b
|
UTSW |
8 |
10,085,391 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9474:Tnfsf13b
|
UTSW |
8 |
10,081,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tnfsf13b
|
UTSW |
8 |
10,085,427 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTCTCAGCTTTAAAAGAGG -3'
(R):5'- TCCCAAAGCAGCACTTTTGG -3'
Sequencing Primer
(F):5'- CTCAGCTTTAAAAGAGGAAATGCC -3'
(R):5'- AGGACAGCTACATACCAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation