Incidental Mutation 'IGL01383:Tnfsf13b'
| ID |
78942 |
| 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: 0.097)
|
| Stock # |
IGL01383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
10056229-10086000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10081528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 230
(F230S)
|
| 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: F211S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000033892
Gene: ENSMUSG00000031497
AA Change: F211S
| 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: F230S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555G01Rik |
C |
A |
14: 5,051,570 (GRCm38) |
|
probably null |
Het |
| Abca9 |
A |
C |
11: 110,004,119 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,333,464 (GRCm39) |
M227K |
probably benign |
Het |
| Asb5 |
T |
A |
8: 55,003,544 (GRCm39) |
L22H |
probably damaging |
Het |
| Atrx |
T |
C |
X: 104,845,681 (GRCm39) |
D2309G |
probably damaging |
Het |
| Cand1 |
T |
A |
10: 119,044,072 (GRCm39) |
T1074S |
probably damaging |
Het |
| Cep97 |
T |
C |
16: 55,731,970 (GRCm39) |
E534G |
probably damaging |
Het |
| Cftr |
C |
A |
6: 18,226,040 (GRCm39) |
N329K |
probably benign |
Het |
| Clec7a |
T |
C |
6: 129,449,603 (GRCm39) |
T16A |
probably damaging |
Het |
| Col1a1 |
G |
A |
11: 94,836,351 (GRCm39) |
R674H |
probably damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,181,243 (GRCm39) |
S50G |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,393,778 (GRCm39) |
D14G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Grin1 |
C |
A |
2: 25,186,979 (GRCm39) |
R694L |
possibly damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,298,672 (GRCm39) |
I151T |
probably damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,375 (GRCm39) |
S152P |
probably damaging |
Het |
| Hvcn1 |
T |
C |
5: 122,375,766 (GRCm39) |
V15A |
probably damaging |
Het |
| Iqca1l |
A |
T |
5: 24,753,292 (GRCm39) |
N453K |
probably benign |
Het |
| Map3k10 |
C |
T |
7: 27,357,424 (GRCm39) |
V785M |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,195,763 (GRCm39) |
N667S |
probably benign |
Het |
| Mup3 |
A |
C |
4: 62,004,196 (GRCm39) |
Y106D |
probably damaging |
Het |
| Mypn |
G |
T |
10: 62,971,576 (GRCm39) |
N821K |
probably damaging |
Het |
| Odad1 |
T |
C |
7: 45,589,124 (GRCm39) |
S179P |
probably damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,140 (GRCm39) |
Y62C |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,316 (GRCm39) |
N88K |
probably benign |
Het |
| Or5i1 |
A |
G |
2: 87,613,217 (GRCm39) |
D111G |
possibly damaging |
Het |
| Pcdhb10 |
A |
T |
18: 37,546,328 (GRCm39) |
H468L |
probably benign |
Het |
| Pramel27 |
T |
G |
4: 143,573,102 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
C |
A |
6: 132,576,841 (GRCm39) |
P43T |
unknown |
Het |
| Psg26 |
A |
G |
7: 18,214,179 (GRCm39) |
V161A |
possibly damaging |
Het |
| Rab17 |
T |
G |
1: 90,887,815 (GRCm39) |
D115A |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,277,552 (GRCm39) |
F611L |
probably damaging |
Het |
| Skor1 |
T |
A |
9: 63,053,838 (GRCm39) |
T44S |
probably benign |
Het |
| Spaca5 |
T |
C |
X: 20,934,725 (GRCm39) |
|
probably benign |
Het |
| Tatdn3 |
G |
A |
1: 190,787,578 (GRCm39) |
|
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,412,184 (GRCm39) |
D118G |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,605,083 (GRCm39) |
S73P |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,383 (GRCm39) |
V658A |
possibly damaging |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,575 (GRCm39) |
L770F |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,259,923 (GRCm39) |
|
probably null |
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 |
|
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 |
2013-11-05 |
Incidental Mutation