Incidental Mutation 'IGL02880:Tnfrsf17'
ID |
362771 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tnfrsf17
|
Ensembl Gene |
ENSMUSG00000022496 |
Gene Name |
tumor necrosis factor receptor superfamily, member 17 |
Synonyms |
Tnfrsf13, Tnfrsf13a, BCMA, BCM |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02880
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
11131676-11137938 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 11137622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 120
(Y120H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023140]
[ENSMUST00000115814]
[ENSMUST00000180792]
|
AlphaFold |
O88472 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023140
AA Change: Y120H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023140 Gene: ENSMUSG00000022496 AA Change: Y120H
Domain | Start | End | E-Value | Type |
Pfam:BCMA-Tall_bind
|
5 |
40 |
4.2e-23 |
PFAM |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115814
|
SMART Domains |
Protein: ENSMUSP00000111481 Gene: ENSMUSG00000071669
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
74 |
N/A |
INTRINSIC |
RUN
|
115 |
178 |
7.89e-26 |
SMART |
internal_repeat_1
|
192 |
211 |
2.98e-5 |
PROSPERO |
internal_repeat_1
|
203 |
222 |
2.98e-5 |
PROSPERO |
low complexity region
|
252 |
262 |
N/A |
INTRINSIC |
low complexity region
|
270 |
275 |
N/A |
INTRINSIC |
low complexity region
|
314 |
323 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180792
|
SMART Domains |
Protein: ENSMUSP00000138025 Gene: ENSMUSG00000071669
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
74 |
N/A |
INTRINSIC |
RUN
|
115 |
178 |
7.89e-26 |
SMART |
internal_repeat_1
|
192 |
211 |
2.63e-5 |
PROSPERO |
internal_repeat_1
|
203 |
222 |
2.63e-5 |
PROSPERO |
low complexity region
|
252 |
262 |
N/A |
INTRINSIC |
low complexity region
|
270 |
275 |
N/A |
INTRINSIC |
low complexity region
|
314 |
323 |
N/A |
INTRINSIC |
low complexity region
|
445 |
462 |
N/A |
INTRINSIC |
coiled coil region
|
467 |
548 |
N/A |
INTRINSIC |
PX
|
661 |
764 |
3.13e-9 |
SMART |
|
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 member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for targeted null mutations in this gene are viable and fertile with no apparent defects in immune system development or function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankzf1 |
T |
C |
1: 75,169,312 (GRCm39) |
S73P |
probably benign |
Het |
Camsap3 |
T |
C |
8: 3,653,913 (GRCm39) |
Y517H |
probably damaging |
Het |
Catsperg1 |
C |
T |
7: 28,894,910 (GRCm39) |
M562I |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,283,310 (GRCm39) |
D7G |
probably benign |
Het |
Ccdc65 |
A |
C |
15: 98,606,973 (GRCm39) |
N60T |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
Col19a1 |
A |
G |
1: 24,365,054 (GRCm39) |
|
probably benign |
Het |
Ddx6 |
T |
C |
9: 44,524,194 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
G |
A |
6: 5,966,821 (GRCm39) |
|
probably null |
Het |
Eml6 |
T |
C |
11: 29,699,959 (GRCm39) |
N1726D |
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,660,640 (GRCm39) |
S706P |
probably damaging |
Het |
Fcamr |
C |
T |
1: 130,741,071 (GRCm39) |
P497S |
probably benign |
Het |
Galntl6 |
T |
C |
8: 58,257,306 (GRCm39) |
E477G |
probably benign |
Het |
Gatd1 |
T |
G |
7: 140,990,951 (GRCm39) |
Q65H |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
Lag3 |
A |
G |
6: 124,882,434 (GRCm39) |
L354S |
probably benign |
Het |
Lrp1 |
A |
C |
10: 127,376,091 (GRCm39) |
V4342G |
probably benign |
Het |
Rap1gds1 |
T |
C |
3: 138,651,517 (GRCm39) |
I491V |
probably benign |
Het |
Scrib |
A |
G |
15: 75,937,973 (GRCm39) |
L291P |
probably damaging |
Het |
Shoc2 |
T |
C |
19: 54,019,525 (GRCm39) |
Y523H |
probably benign |
Het |
Slc47a2 |
C |
T |
11: 61,198,366 (GRCm39) |
G443E |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,654,024 (GRCm39) |
|
probably benign |
Het |
Stra6l |
C |
T |
4: 45,885,278 (GRCm39) |
T582M |
possibly damaging |
Het |
Tmem144 |
G |
A |
3: 79,734,929 (GRCm39) |
T163I |
probably benign |
Het |
Tspan3 |
G |
T |
9: 56,053,800 (GRCm39) |
Q184K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,628,270 (GRCm39) |
V14630D |
possibly damaging |
Het |
Zfp236 |
T |
A |
18: 82,642,584 (GRCm39) |
N1054I |
probably benign |
Het |
|
Other mutations in Tnfrsf17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02556:Tnfrsf17
|
APN |
16 |
11,131,811 (GRCm39) |
utr 5 prime |
probably benign |
|
R0514:Tnfrsf17
|
UTSW |
16 |
11,133,191 (GRCm39) |
missense |
probably benign |
|
R0659:Tnfrsf17
|
UTSW |
16 |
11,137,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R0764:Tnfrsf17
|
UTSW |
16 |
11,133,063 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1463:Tnfrsf17
|
UTSW |
16 |
11,133,066 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1716:Tnfrsf17
|
UTSW |
16 |
11,137,595 (GRCm39) |
missense |
probably benign |
0.15 |
R2436:Tnfrsf17
|
UTSW |
16 |
11,137,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Tnfrsf17
|
UTSW |
16 |
11,131,833 (GRCm39) |
missense |
probably benign |
0.08 |
R6440:Tnfrsf17
|
UTSW |
16 |
11,137,754 (GRCm39) |
missense |
probably benign |
0.00 |
R8802:Tnfrsf17
|
UTSW |
16 |
11,137,819 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8898:Tnfrsf17
|
UTSW |
16 |
11,131,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |