Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01137:Timmdc1'

52965

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 #

IGL01137

Quality Score

Status

Chromosome

Chromosomal Location

38318709-38343025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38338747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 114 (H114Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002925]

AlphaFold

Q8BUY5

Predicted Effect

probably benign
Transcript: ENSMUST00000002925
AA Change: H114Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000002925
Gene: ENSMUSG00000002846
AA Change: H114Q

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	A	15: 94,292,492 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,611,075 (GRCm39)	T2583A	probably damaging	Het
Anxa7	G	A	14: 20,506,648 (GRCm39)	Q431*	probably null	Het
Asb15	T	A	6: 24,556,521 (GRCm39)	D5E	probably benign	Het
Bex1	C	A	X: 135,115,243 (GRCm39)	D29Y	probably damaging	Het
Cadm2	G	A	16: 66,612,238 (GRCm39)	T108I	probably damaging	Het
Cecr2	T	G	6: 120,738,989 (GRCm39)	L1211V	probably damaging	Het
Cntn2	T	C	1: 132,449,035 (GRCm39)		probably benign	Het
Ctrc	C	A	4: 141,566,065 (GRCm39)	V198L	possibly damaging	Het
Cyp2g1	A	G	7: 26,513,684 (GRCm39)	S208G	possibly damaging	Het
Ddx46	T	A	13: 55,817,530 (GRCm39)	Y718*	probably null	Het
Dlec1	T	C	9: 118,966,379 (GRCm39)	I1116T	probably damaging	Het
Dnajc13	A	G	9: 104,037,689 (GRCm39)	Y2177H	probably benign	Het
Dpp6	T	C	5: 27,919,486 (GRCm39)	F661S	probably damaging	Het
Dpy19l2	G	A	9: 24,569,858 (GRCm39)	T365I	possibly damaging	Het
Flot2	T	C	11: 77,940,333 (GRCm39)	Y27H	probably damaging	Het
Gsta4	T	C	9: 78,113,204 (GRCm39)	Y95H	possibly damaging	Het
Kir3dl1	A	G	X: 135,427,360 (GRCm39)	T192A	probably damaging	Het
Llgl1	T	A	11: 60,600,825 (GRCm39)	N640K	probably benign	Het
Lrch1	C	T	14: 74,994,532 (GRCm39)	V691M	probably damaging	Het
Myh9	T	C	15: 77,653,742 (GRCm39)	D1302G	probably benign	Het
Myo18a	T	G	11: 77,718,655 (GRCm39)	F935V	probably damaging	Het
Mypn	T	C	10: 62,988,633 (GRCm39)	E464G	probably benign	Het
Or52l1	A	G	7: 104,829,695 (GRCm39)	V290A	probably benign	Het
Or5ac25	A	C	16: 59,182,335 (GRCm39)	M82R	probably benign	Het
Or5b101	A	T	19: 13,005,394 (GRCm39)	F100I	possibly damaging	Het
Or8k38	A	T	2: 86,488,055 (GRCm39)	I249N	possibly damaging	Het
R3hdm1	C	T	1: 128,109,612 (GRCm39)	R39C	probably damaging	Het
Rps3a3	A	T	13: 108,807,666 (GRCm39)		probably benign	Het
Sec24b	C	T	3: 129,801,093 (GRCm39)	S401N	probably benign	Het
Slc22a22	C	A	15: 57,117,674 (GRCm39)	G289V	probably damaging	Het
Stk33	T	C	7: 108,928,775 (GRCm39)	I246V	probably benign	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tlcd2	T	C	11: 75,360,337 (GRCm39)	Y127H	probably damaging	Het
Tnfrsf11a	G	A	1: 105,737,147 (GRCm39)	D85N	possibly damaging	Het
Trbc2	T	C	6: 41,524,751 (GRCm39)		probably benign	Het
Unc13b	G	A	4: 43,091,291 (GRCm39)	R39H	probably damaging	Het
Vwa8	T	C	14: 79,341,087 (GRCm39)	L1521P	probably damaging	Het
Zbtb17	T	A	4: 141,193,678 (GRCm39)	C607*	probably null	Het

Other mutations in Timmdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21