Incidental Mutation 'S24628:Tmem43'
| ID |
385659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem43
|
| Ensembl Gene |
ENSMUSG00000030095 |
| Gene Name |
transmembrane protein 43 |
| Synonyms |
LUMA, 1200015A22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
S24628 ()
of strain
waterfowl
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91450689-91465445 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91459300 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Proline to Glutamine
at position 257
(P257Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032183]
|
| AlphaFold |
Q9DBS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032183
AA Change: P257Q
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032183
Gene: ENSMUSG00000030095
AA Change: P257Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
51 |
N/A |
INTRINSIC |
|
Pfam:DUF1625
|
121 |
373 |
3.6e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153179
|
| Meta Mutation Damage Score |
0.1186 |
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 88.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
PHENOTYPE: In a gihg-throughput screen, female homozygous mutant mice exhibited an increased anxiety-like response during open field activity testing when compared with their gender-matched wild-type littermates and the historical mean. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
G |
A |
17: 56,159,288 (GRCm39) |
V658I |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,122,944 (GRCm39) |
Y249H |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Homo |
| Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
| Gpr183 |
C |
A |
14: 122,191,888 (GRCm39) |
C211F |
probably damaging |
Homo |
| Lcp1 |
A |
T |
14: 75,464,446 (GRCm39) |
I556F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,904,788 (GRCm39) |
P513S |
probably benign |
Het |
| Letm1 |
G |
A |
5: 33,904,790 (GRCm39) |
P512L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,483,294 (GRCm39) |
V283A |
possibly damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,717,782 (GRCm39) |
I213F |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,399 (GRCm39) |
H191L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,691,886 (GRCm39) |
A120V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,419 (GRCm39) |
Y609C |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,318 (GRCm39) |
H104Y |
probably benign |
Homo |
| Rnf213 |
A |
T |
11: 119,305,295 (GRCm39) |
I509F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,884,042 (GRCm39) |
S213G |
probably damaging |
Homo |
| Spint1 |
A |
G |
2: 119,076,096 (GRCm39) |
T231A |
probably damaging |
Het |
| Tbcel |
C |
A |
9: 42,355,796 (GRCm39) |
C139F |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,900,235 (GRCm39) |
S573A |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,248,430 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,936,249 (GRCm39) |
G229D |
probably damaging |
Homo |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,478,006 (GRCm39) |
V215D |
probably damaging |
Homo |
| Vmn1r22 |
G |
T |
6: 57,877,317 (GRCm39) |
T220K |
probably benign |
Homo |
| Vmn2r116 |
G |
A |
17: 23,606,253 (GRCm39) |
M388I |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,809,892 (GRCm39) |
M1V |
probably null |
Homo |
| Zfp282 |
A |
G |
6: 47,874,815 (GRCm39) |
D340G |
probably damaging |
Homo |
| Zfp282 |
T |
A |
6: 47,881,987 (GRCm39) |
I558N |
possibly damaging |
Homo |
|
| Other mutations in Tmem43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02887:Tmem43
|
APN |
6 |
91,454,356 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03105:Tmem43
|
APN |
6 |
91,457,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Tmem43
|
UTSW |
6 |
91,459,300 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1388:Tmem43
|
UTSW |
6 |
91,455,785 (GRCm39) |
splice site |
probably null |
|
|
R1581:Tmem43
|
UTSW |
6 |
91,455,717 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1777:Tmem43
|
UTSW |
6 |
91,454,312 (GRCm39) |
nonsense |
probably null |
|
|
R1895:Tmem43
|
UTSW |
6 |
91,463,891 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1946:Tmem43
|
UTSW |
6 |
91,463,891 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2697:Tmem43
|
UTSW |
6 |
91,456,911 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4778:Tmem43
|
UTSW |
6 |
91,459,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5205:Tmem43
|
UTSW |
6 |
91,463,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5366:Tmem43
|
UTSW |
6 |
91,455,240 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5383:Tmem43
|
UTSW |
6 |
91,450,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5516:Tmem43
|
UTSW |
6 |
91,455,192 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5569:Tmem43
|
UTSW |
6 |
91,454,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5656:Tmem43
|
UTSW |
6 |
91,457,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6490:Tmem43
|
UTSW |
6 |
91,463,862 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6490:Tmem43
|
UTSW |
6 |
91,455,759 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7853:Tmem43
|
UTSW |
6 |
91,458,968 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8330:Tmem43
|
UTSW |
6 |
91,455,746 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8947:Tmem43
|
UTSW |
6 |
91,462,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Tmem43
|
UTSW |
6 |
91,463,897 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9132:Tmem43
|
UTSW |
6 |
91,459,291 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9159:Tmem43
|
UTSW |
6 |
91,459,291 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTCAGTGTGTGCAGCAGC -3'
(R):5'- TTGGGGCAGATCTACACAGG -3'
Sequencing Primer
(F):5'- TTGCCCAGTGAGACCGGAG -3'
(R):5'- GCAGATCTACACAGGGAAAAGCC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation