Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01470

Quality Score

Status

Chromosome

Chromosomal Location

38498347-38522663 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 38518540 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002925 (fasta)

Gene Model

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

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: 32,660,457	T1184A	possibly damaging	Het
A2ml1	A	G	6: 128,580,412	I106T	probably damaging	Het
Asic4	C	T	1: 75,450,866	A12V	probably damaging	Het
Cacna1d	A	T	14: 30,099,142	V1139D	probably damaging	Het
Edc4	T	C	8: 105,889,981		probably benign	Het
Eif4h	A	T	5: 134,625,539		probably null	Het
Exog	C	A	9: 119,462,526	Q290K	probably damaging	Het
Fam83c	A	T	2: 155,834,808	I14K	possibly damaging	Het
Fes	A	T	7: 80,383,273	Y268N	probably benign	Het
Fhod1	A	G	8: 105,329,649	L1144P	probably damaging	Het
Frem3	C	T	8: 80,614,315	T1079I	probably damaging	Het
Gbp10	A	G	5: 105,221,114		probably benign	Het
Herc1	T	C	9: 66,497,636	V4496A	possibly damaging	Het
Lamb1	A	G	12: 31,300,262	R729G	possibly damaging	Het
Lifr	T	A	15: 7,175,666	C461*	probably null	Het
Lypd6	T	C	2: 50,188,783	V97A	probably benign	Het
Map3k5	A	G	10: 20,118,187	E973G	possibly damaging	Het
Mep1b	A	T	18: 21,097,467	N692I	probably benign	Het
Mrpl15	A	G	1: 4,776,531	V274A	probably damaging	Het
Naaa	A	G	5: 92,263,648	I264T	probably damaging	Het
Nlrp4c	T	C	7: 6,100,784	C906R	possibly damaging	Het
Olfr1047	T	C	2: 86,228,284	N229S	probably benign	Het
Olfr1265	T	C	2: 90,037,818	W300R	possibly damaging	Het
Olfr1443	T	C	19: 12,680,671	S188P	possibly damaging	Het
Olfr344	T	A	2: 36,568,742	L48H	probably damaging	Het
Olfr885	A	T	9: 38,062,004	H228L	possibly damaging	Het
Phc2	C	T	4: 128,723,110	T392I	probably benign	Het
Ptprg	G	A	14: 12,213,702	W248*	probably null	Het
Pzp	T	A	6: 128,521,124	E243D	probably benign	Het
Rbm33	T	A	5: 28,387,848	L542Q	probably damaging	Het
Recql4	G	A	15: 76,708,944	T229I	probably benign	Het
Ssbp3	T	C	4: 107,037,658		probably benign	Het
Tfap2d	A	T	1: 19,148,396	Q373L	probably damaging	Het
Tiparp	G	T	3: 65,552,609	G442*	probably null	Het
Vmn2r4	A	T	3: 64,406,395	N388K	probably damaging	Het
Vps13c	T	C	9: 67,912,927		probably benign	Het
Zfp551	A	G	7: 12,418,541		probably null	Het

Other mutations in Timmdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Timmdc1	APN	16	38518385	missense	probably benign	0.01
IGL02480:Timmdc1	APN	16	38522401	missense	probably null	0.05
IGL03241:Timmdc1	APN	16	38510709	splice site	probably benign
R0106:Timmdc1	UTSW	16	38522362	missense	probably damaging	1.00
R0579:Timmdc1	UTSW	16	38522383	missense	probably benign
R1054:Timmdc1	UTSW	16	38522428	missense	probably benign	0.00
R1661:Timmdc1	UTSW	16	38510717	critical splice donor site	probably null
R1665:Timmdc1	UTSW	16	38510717	critical splice donor site	probably null
R1793:Timmdc1	UTSW	16	38499057	missense	possibly damaging	0.89
R2135:Timmdc1	UTSW	16	38498951	missense	probably benign	0.01
R6234:Timmdc1	UTSW	16	38518499	nonsense	probably null
R7472:Timmdc1	UTSW	16	38505418	nonsense	probably null
R8169:Timmdc1	UTSW	16	38510786	missense	probably benign	0.10

Posted On

2013-11-18