Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01470:Timmdc1'

88260

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) question?

Stock #

IGL01470

Quality Score

Status

Chromosome

Chromosomal Location

38318709-38343025 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 38338902 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147543

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,382,414 (GRCm39)	T1184A	possibly damaging	Het
A2ml1	A	G	6: 128,557,375 (GRCm39)	I106T	probably damaging	Het
Asic4	C	T	1: 75,427,510 (GRCm39)	A12V	probably damaging	Het
Cacna1d	A	T	14: 29,821,099 (GRCm39)	V1139D	probably damaging	Het
Edc4	T	C	8: 106,616,613 (GRCm39)		probably benign	Het
Eif4h	A	T	5: 134,654,393 (GRCm39)		probably null	Het
Exog	C	A	9: 119,291,592 (GRCm39)	Q290K	probably damaging	Het
Fam83c	A	T	2: 155,676,728 (GRCm39)	I14K	possibly damaging	Het
Fes	A	T	7: 80,033,021 (GRCm39)	Y268N	probably benign	Het
Fhod1	A	G	8: 106,056,281 (GRCm39)	L1144P	probably damaging	Het
Frem3	C	T	8: 81,340,944 (GRCm39)	T1079I	probably damaging	Het
Gbp10	A	G	5: 105,368,980 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,404,918 (GRCm39)	V4496A	possibly damaging	Het
Lamb1	A	G	12: 31,350,261 (GRCm39)	R729G	possibly damaging	Het
Lifr	T	A	15: 7,205,147 (GRCm39)	C461*	probably null	Het
Lypd6	T	C	2: 50,078,795 (GRCm39)	V97A	probably benign	Het
Map3k5	A	G	10: 19,993,933 (GRCm39)	E973G	possibly damaging	Het
Mep1b	A	T	18: 21,230,524 (GRCm39)	N692I	probably benign	Het
Mrpl15	A	G	1: 4,846,754 (GRCm39)	V274A	probably damaging	Het
Naaa	A	G	5: 92,411,507 (GRCm39)	I264T	probably damaging	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or4x11	T	C	2: 89,868,162 (GRCm39)	W300R	possibly damaging	Het
Or5b95	T	C	19: 12,658,035 (GRCm39)	S188P	possibly damaging	Het
Or8b38	A	T	9: 37,973,300 (GRCm39)	H228L	possibly damaging	Het
Or8k3	T	C	2: 86,058,628 (GRCm39)	N229S	probably benign	Het
Phc2	C	T	4: 128,616,903 (GRCm39)	T392I	probably benign	Het
Ptprg	G	A	14: 12,213,702 (GRCm38)	W248*	probably null	Het
Pzp	T	A	6: 128,498,087 (GRCm39)	E243D	probably benign	Het
Rbm33	T	A	5: 28,592,846 (GRCm39)	L542Q	probably damaging	Het
Recql4	G	A	15: 76,593,144 (GRCm39)	T229I	probably benign	Het
Ssbp3	T	C	4: 106,894,855 (GRCm39)		probably benign	Het
Tfap2d	A	T	1: 19,218,620 (GRCm39)	Q373L	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Vps13c	T	C	9: 67,820,209 (GRCm39)		probably benign	Het
Zfp551	A	G	7: 12,152,468 (GRCm39)		probably null	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
IGL02480:Timmdc1	APN	16	38,342,763 (GRCm39)	missense	probably null	0.05
IGL03241:Timmdc1	APN	16	38,331,071 (GRCm39)	splice site	probably benign
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

2013-11-18