Incidental Mutation 'IGL02583:Tnfrsf19'
| ID |
299423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnfrsf19
|
| Ensembl Gene |
ENSMUSG00000060548 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 19 |
| Synonyms |
TAJ, TRADE, TAJ-ALPHA, Troy |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02583
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
61201324-61283939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61261659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 47
(V47F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111234]
[ENSMUST00000111236]
[ENSMUST00000224371]
[ENSMUST00000225730]
|
| AlphaFold |
Q9JLL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111234
AA Change: V47F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106865
Gene: ENSMUSG00000060548
AA Change: V47F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
TNFR
|
34 |
72 |
1.75e0 |
SMART |
|
TNFR
|
75 |
114 |
3.32e-1 |
SMART |
|
transmembrane domain
|
169 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111236
AA Change: V47F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106867
Gene: ENSMUSG00000060548
AA Change: V47F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
TNFR
|
34 |
72 |
1.75e0 |
SMART |
|
TNFR
|
75 |
114 |
3.32e-1 |
SMART |
|
transmembrane domain
|
169 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224371
AA Change: V47F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225730
AA Change: V47F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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 highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit no obvious physical abnormalities or alterations in behavior, locomotion, or fecundity, however neurons are more resistant to the suppressive action of myelin inhibitors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
C |
T |
5: 26,684,717 (GRCm39) |
|
noncoding transcript |
Het |
| A430005L14Rik |
T |
A |
4: 154,045,392 (GRCm39) |
D140E |
possibly damaging |
Het |
| Bod1l |
C |
T |
5: 41,973,550 (GRCm39) |
|
probably null |
Het |
| Brms1 |
T |
A |
19: 5,096,206 (GRCm39) |
V61D |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,863,881 (GRCm39) |
N952K |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cimap2 |
A |
T |
4: 106,468,602 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,279,866 (GRCm39) |
V697A |
probably benign |
Het |
| Col7a1 |
A |
T |
9: 108,791,297 (GRCm39) |
I1118F |
unknown |
Het |
| Cyfip2 |
T |
C |
11: 46,140,585 (GRCm39) |
E746G |
possibly damaging |
Het |
| Dach1 |
A |
G |
14: 98,065,830 (GRCm39) |
|
probably benign |
Het |
| Dock11 |
G |
T |
X: 35,270,370 (GRCm39) |
G1023W |
possibly damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,044,754 (GRCm39) |
D453G |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,738,955 (GRCm39) |
|
probably benign |
Het |
| Gm17415 |
A |
G |
1: 93,349,801 (GRCm39) |
|
probably benign |
Het |
| Gm4781 |
A |
T |
10: 100,232,507 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch2 |
A |
C |
1: 186,965,514 (GRCm39) |
|
probably null |
Het |
| Gpatch2 |
G |
T |
1: 186,965,515 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
G |
12: 16,756,296 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,542,362 (GRCm39) |
Y1319C |
probably damaging |
Het |
| Ice1 |
C |
T |
13: 70,753,854 (GRCm39) |
R744H |
possibly damaging |
Het |
| Kcnq2 |
T |
A |
2: 180,723,295 (GRCm39) |
S694C |
probably benign |
Het |
| Krt35 |
C |
A |
11: 99,983,360 (GRCm39) |
V448L |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,171,360 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,055,218 (GRCm39) |
S1984P |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,014,227 (GRCm39) |
Q341R |
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,180,330 (GRCm39) |
L286Q |
probably damaging |
Het |
| Or51a6 |
T |
C |
7: 102,603,918 (GRCm39) |
T297A |
possibly damaging |
Het |
| Osr1 |
C |
T |
12: 9,629,675 (GRCm39) |
H183Y |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,095,596 (GRCm39) |
V202A |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,200,462 (GRCm39) |
K1071E |
probably benign |
Het |
| Pwp2 |
T |
C |
10: 78,016,917 (GRCm39) |
R268G |
probably benign |
Het |
| Rwdd1 |
T |
A |
10: 33,877,669 (GRCm39) |
K178* |
probably null |
Het |
| Scn10a |
A |
T |
9: 119,520,506 (GRCm39) |
|
probably benign |
Het |
| Sema3g |
A |
G |
14: 30,943,476 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
C |
A |
19: 8,600,980 (GRCm39) |
A391E |
possibly damaging |
Het |
| Slc41a3 |
G |
A |
6: 90,621,153 (GRCm39) |
G372S |
probably damaging |
Het |
| Sqor |
G |
T |
2: 122,641,690 (GRCm39) |
K3N |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,310,244 (GRCm39) |
Q495R |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stxbp3 |
G |
T |
3: 108,708,187 (GRCm39) |
D371E |
probably damaging |
Het |
| Usp11 |
A |
T |
X: 20,584,284 (GRCm39) |
E622V |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,126 (GRCm39) |
Y143* |
probably null |
Het |
| Zfp280d |
A |
G |
9: 72,229,727 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zmat1 |
T |
C |
X: 133,874,021 (GRCm39) |
T457A |
probably damaging |
Het |
|
| Other mutations in Tnfrsf19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Tnfrsf19
|
APN |
14 |
61,261,631 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01564:Tnfrsf19
|
APN |
14 |
61,212,058 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01878:Tnfrsf19
|
APN |
14 |
61,234,093 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02220:Tnfrsf19
|
APN |
14 |
61,210,941 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02378:Tnfrsf19
|
APN |
14 |
61,208,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02546:Tnfrsf19
|
APN |
14 |
61,210,987 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03037:Tnfrsf19
|
APN |
14 |
61,261,721 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03221:Tnfrsf19
|
APN |
14 |
61,262,227 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0241:Tnfrsf19
|
UTSW |
14 |
61,211,041 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0373:Tnfrsf19
|
UTSW |
14 |
61,209,485 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1521:Tnfrsf19
|
UTSW |
14 |
61,242,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3038:Tnfrsf19
|
UTSW |
14 |
61,209,512 (GRCm39) |
missense |
probably benign |
|
|
R4346:Tnfrsf19
|
UTSW |
14 |
61,209,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4997:Tnfrsf19
|
UTSW |
14 |
61,208,658 (GRCm39) |
missense |
probably benign |
|
|
R5756:Tnfrsf19
|
UTSW |
14 |
61,262,224 (GRCm39) |
missense |
probably benign |
|
|
R5869:Tnfrsf19
|
UTSW |
14 |
61,208,627 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6110:Tnfrsf19
|
UTSW |
14 |
61,208,588 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7047:Tnfrsf19
|
UTSW |
14 |
61,242,667 (GRCm39) |
nonsense |
probably null |
|
|
R7266:Tnfrsf19
|
UTSW |
14 |
61,212,147 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7491:Tnfrsf19
|
UTSW |
14 |
61,242,654 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7729:Tnfrsf19
|
UTSW |
14 |
61,212,183 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7936:Tnfrsf19
|
UTSW |
14 |
61,208,382 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8358:Tnfrsf19
|
UTSW |
14 |
61,208,634 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8535:Tnfrsf19
|
UTSW |
14 |
61,208,417 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8693:Tnfrsf19
|
UTSW |
14 |
61,208,451 (GRCm39) |
missense |
probably benign |
|
|
R9028:Tnfrsf19
|
UTSW |
14 |
61,242,650 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9468:Tnfrsf19
|
UTSW |
14 |
61,261,623 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2015-04-16 |
Incidental Mutation