Incidental Mutation 'R2436:Tnfrsf17'
| ID |
249603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf17
|
| Ensembl Gene |
ENSMUSG00000022496 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 17 |
| Synonyms |
Tnfrsf13, Tnfrsf13a, BCMA, BCM |
| MMRRC Submission |
040397-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2436 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
11131676-11137938 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 11137676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 138
(D138N)
|
| 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: D138N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023140
Gene: ENSMUSG00000022496
AA Change: D138N
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,582,308 (GRCm39) |
S277P |
possibly damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,662 (GRCm39) |
S52P |
probably benign |
Het |
| Barx2 |
T |
C |
9: 31,824,383 (GRCm39) |
H2R |
probably damaging |
Het |
| Calhm3 |
T |
C |
19: 47,140,404 (GRCm39) |
T230A |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,868,117 (GRCm39) |
V844M |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,126,156 (GRCm39) |
R1327Q |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,923,549 (GRCm39) |
I427V |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,039,524 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
A |
3: 82,921,496 (GRCm39) |
I393N |
possibly damaging |
Het |
| Foxq1 |
A |
T |
13: 31,742,516 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,566 (GRCm39) |
T646A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,745,706 (GRCm39) |
E324K |
possibly damaging |
Het |
| Krt80 |
A |
G |
15: 101,257,384 (GRCm39) |
F183L |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,354 (GRCm39) |
K647* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,325,891 (GRCm39) |
Y1067C |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,104,097 (GRCm39) |
Q921H |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,862,029 (GRCm39) |
F200S |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,309,143 (GRCm39) |
N153S |
possibly damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,591 (GRCm39) |
F209L |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,952 (GRCm39) |
C142R |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,117 (GRCm39) |
V114A |
probably benign |
Het |
| Or5k1 |
C |
T |
16: 58,617,607 (GRCm39) |
V201I |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,782,943 (GRCm39) |
L86F |
probably damaging |
Het |
| Polr3h |
G |
T |
15: 81,801,406 (GRCm39) |
L157I |
probably benign |
Het |
| Prex2 |
G |
A |
1: 11,336,376 (GRCm39) |
V1525M |
possibly damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,996,079 (GRCm39) |
D561E |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,440,354 (GRCm39) |
D800V |
possibly damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,655 (GRCm39) |
L223F |
possibly damaging |
Het |
| Slc16a9 |
TCCCC |
TCCCCC |
10: 70,091,911 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
G |
T |
5: 135,864,030 (GRCm39) |
E43* |
probably null |
Het |
| Tcaf3 |
G |
A |
6: 42,570,663 (GRCm39) |
A363V |
probably damaging |
Het |
| Tmem138 |
A |
G |
19: 10,552,268 (GRCm39) |
F78S |
probably damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,986,568 (GRCm39) |
V1344I |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,266,842 (GRCm39) |
L1875* |
probably null |
Het |
| Vmn2r109 |
C |
A |
17: 20,774,798 (GRCm39) |
G186C |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,373 (GRCm39) |
N137D |
possibly damaging |
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 |
|
|
IGL02880:Tnfrsf17
|
APN |
16 |
11,137,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCATGGCATGACAATACC -3'
(R):5'- GCTCTCCTGACAGAAGGTTC -3'
Sequencing Primer
(F):5'- TGGCATGACAATACCACTGAG -3'
(R):5'- GAAGGTTCTCAAAGCAGCTTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation