Incidental Mutation 'IGL01016:Tnfsf13b'
| ID |
53728 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnfsf13b
|
| Ensembl Gene |
ENSMUSG00000031497 |
| Gene Name |
tumor necrosis factor (ligand) superfamily, member 13b |
| Synonyms |
BLyS, TALL-1, zTNF4, D8Ertd387e, BAFF |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL01016
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
10056229-10086000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10081612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 258
(Q258R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033892]
[ENSMUST00000207792]
[ENSMUST00000208683]
|
| AlphaFold |
Q9WU72 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033892
AA Change: Q239R
PolyPhen 2
Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000033892
Gene: ENSMUSG00000031497
AA Change: Q239R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
67 |
N/A |
INTRINSIC |
|
TNF
|
169 |
308 |
1.88e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207792
AA Change: Q258R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208770
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh20 |
G |
A |
1: 110,036,686 (GRCm39) |
|
probably null |
Het |
| Dennd1c |
T |
C |
17: 57,373,839 (GRCm39) |
I575V |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,310,252 (GRCm39) |
V1394I |
possibly damaging |
Het |
| Gldc |
G |
A |
19: 30,110,893 (GRCm39) |
S570F |
possibly damaging |
Het |
| Gm12695 |
T |
A |
4: 96,646,184 (GRCm39) |
Y286F |
probably benign |
Het |
| Grid1 |
C |
T |
14: 34,544,596 (GRCm39) |
Q56* |
probably null |
Het |
| Il7r |
A |
T |
15: 9,510,294 (GRCm39) |
V253E |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,014,867 (GRCm39) |
L861P |
probably damaging |
Het |
| Kcnc3 |
C |
T |
7: 44,244,810 (GRCm39) |
R367W |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,914,264 (GRCm39) |
Y107H |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,789,975 (GRCm39) |
E445G |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,436 (GRCm39) |
|
probably null |
Het |
| Nme5 |
T |
C |
18: 34,711,712 (GRCm39) |
|
probably null |
Het |
| Or52n2 |
A |
T |
7: 104,542,243 (GRCm39) |
N197K |
probably damaging |
Het |
| Or8b54 |
T |
A |
9: 38,686,737 (GRCm39) |
F62Y |
probably damaging |
Het |
| Or8s8 |
T |
A |
15: 98,354,186 (GRCm39) |
|
probably benign |
Het |
| Papolg |
A |
T |
11: 23,835,570 (GRCm39) |
N83K |
possibly damaging |
Het |
| Picalm |
A |
T |
7: 89,810,526 (GRCm39) |
D111V |
probably damaging |
Het |
| Ppargc1a |
T |
A |
5: 51,655,373 (GRCm39) |
|
probably null |
Het |
| Rnh1 |
G |
T |
7: 140,744,409 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,383,293 (GRCm39) |
Y576H |
probably damaging |
Het |
| Sobp |
T |
A |
10: 42,898,874 (GRCm39) |
Y237F |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,140,711 (GRCm39) |
Y637H |
probably damaging |
Het |
| St18 |
G |
T |
1: 6,914,547 (GRCm39) |
G797V |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,661,617 (GRCm39) |
D293G |
probably damaging |
Het |
| Tcl1b1 |
A |
T |
12: 105,130,663 (GRCm39) |
R49* |
probably null |
Het |
| Vmn1r223 |
A |
T |
13: 23,434,237 (GRCm39) |
Y277F |
probably damaging |
Het |
| Wdr62 |
T |
C |
7: 29,953,676 (GRCm39) |
T146A |
probably benign |
Het |
| Zfp236 |
G |
A |
18: 82,686,815 (GRCm39) |
A241V |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,711,003 (GRCm39) |
S909P |
probably damaging |
Het |
|
| Other mutations in Tnfsf13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3723:Tnfsf13b
|
UTSW |
8 |
10,081,545 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation