Incidental Mutation 'IGL03241:Timmdc1'
| ID |
414295 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Timmdc1
|
| Ensembl Gene |
ENSMUSG00000002846 |
| Gene Name |
translocase of inner mitochondrial membrane domain containing 1 |
| Synonyms |
2810021C21Rik, 4930455C21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03241
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38318709-38343025 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 38331071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002925]
|
| AlphaFold |
Q8BUY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002925
|
| SMART Domains |
Protein: ENSMUSP00000002925
Gene: ENSMUSG00000002846
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tim17
|
74 |
207 |
4e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117656
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit lethality. Heterozygous mice show an increased mean percentage of CD4 cells in the peripheral blood compared with controls, but no other notable heterozygous phenotype was detected. [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 |
|---|
| Abcc12 |
T |
A |
8: 87,236,436 (GRCm39) |
E1126V |
possibly damaging |
Het |
| Acnat1 |
A |
G |
4: 49,447,702 (GRCm39) |
V275A |
probably benign |
Het |
| Adamts15 |
G |
A |
9: 30,815,781 (GRCm39) |
P692S |
probably damaging |
Het |
| Aqp7 |
A |
T |
4: 41,045,270 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,362,970 (GRCm39) |
I413F |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,267 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
C |
T |
15: 23,227,019 (GRCm39) |
T160I |
probably benign |
Het |
| Cfap206 |
T |
C |
4: 34,711,553 (GRCm39) |
Y448C |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,967,332 (GRCm39) |
S3P |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,289,288 (GRCm39) |
H37Q |
possibly damaging |
Het |
| F7 |
A |
T |
8: 13,078,779 (GRCm39) |
E70V |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,274,027 (GRCm39) |
Q418H |
possibly damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,274,028 (GRCm39) |
E419K |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,397,975 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
T |
A |
14: 50,272,525 (GRCm39) |
M112L |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,021,061 (GRCm39) |
V293A |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,934 (GRCm39) |
S407P |
possibly damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,290,749 (GRCm39) |
V111A |
probably benign |
Het |
| St6galnac5 |
G |
T |
3: 152,552,223 (GRCm39) |
Q115K |
probably benign |
Het |
| Tex56 |
G |
T |
13: 35,128,313 (GRCm39) |
A177S |
probably damaging |
Het |
| Trim34b |
T |
C |
7: 103,983,820 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
A |
T |
8: 65,435,358 (GRCm39) |
I364N |
probably damaging |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,126 (GRCm39) |
N293Y |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,830 (GRCm39) |
T689A |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,438 (GRCm39) |
V111A |
probably benign |
Het |
| Zfp114 |
C |
T |
7: 23,880,437 (GRCm39) |
T261I |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,645 (GRCm39) |
T850A |
probably benign |
Het |
|
| Other mutations in Timmdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01137:Timmdc1
|
APN |
16 |
38,338,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01470:Timmdc1
|
APN |
16 |
38,338,902 (GRCm39) |
splice site |
probably benign |
|
|
IGL02480:Timmdc1
|
APN |
16 |
38,342,763 (GRCm39) |
missense |
probably null |
0.05 |
|
R0106:Timmdc1
|
UTSW |
16 |
38,342,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0579:Timmdc1
|
UTSW |
16 |
38,342,745 (GRCm39) |
missense |
probably benign |
|
|
R1054:Timmdc1
|
UTSW |
16 |
38,342,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1661:Timmdc1
|
UTSW |
16 |
38,331,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1665:Timmdc1
|
UTSW |
16 |
38,331,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1793:Timmdc1
|
UTSW |
16 |
38,319,419 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2135:Timmdc1
|
UTSW |
16 |
38,319,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6234:Timmdc1
|
UTSW |
16 |
38,338,861 (GRCm39) |
nonsense |
probably null |
|
|
R7472:Timmdc1
|
UTSW |
16 |
38,325,780 (GRCm39) |
nonsense |
probably null |
|
|
R8169:Timmdc1
|
UTSW |
16 |
38,331,148 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2016-08-02 |
Incidental Mutation