Mutagenetix > Incidental Mutation

Incidental Mutation 'R1136:Mtch1'

95087

Institutional Source

Beutler Lab

Gene Symbol

Mtch1

Ensembl Gene

ENSMUSG00000024012

Gene Name

mitochondrial carrier 1

Synonyms

2310034O17Rik

MMRRC Submission

039209-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1136 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

29551046-29566908 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 29552744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095427] [ENSMUST00000114699] [ENSMUST00000114701] [ENSMUST00000118366]

AlphaFold

Q791T5

Predicted Effect

probably null
Transcript: ENSMUST00000095427

SMART Domains

Protein: ENSMUSP00000093077
Gene: ENSMUSG00000024012

Domain	Start	End	E-Value	Type
low complexity region	9	64	N/A	INTRINSIC
Pfam:Mito_carr	191	282	4e-10	PFAM
transmembrane domain	315	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114699

SMART Domains

Protein: ENSMUSP00000110347
Gene: ENSMUSG00000024011

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
SCP	33	175	7.72e-52	SMART
low complexity region	255	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114701

SMART Domains

Protein: ENSMUSP00000110349
Gene: ENSMUSG00000024011

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
SCP	33	175	7.72e-52	SMART
low complexity region	363	410	N/A	INTRINSIC
low complexity region	484	494	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118366

SMART Domains

Protein: ENSMUSP00000113021
Gene: ENSMUSG00000024012

Domain	Start	End	E-Value	Type
low complexity region	9	64	N/A	INTRINSIC
Pfam:Mito_carr	191	282	3.7e-10	PFAM
transmembrane domain	298	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151739

Predicted Effect

probably benign
Transcript: ENSMUST00000155348

SMART Domains

Protein: ENSMUSP00000116183
Gene: ENSMUSG00000024011

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
SCP	27	169	7.72e-52	SMART
low complexity region	216	226	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	C	T	13: 68,878,436 (GRCm39)	G401S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bmp2	T	C	2: 133,402,847 (GRCm39)	F133L	probably damaging	Het
C1qtnf3	A	G	15: 10,978,670 (GRCm39)	E290G	probably damaging	Het
Ccdc180	C	A	4: 45,914,589 (GRCm39)	D701E	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Csmd3	A	T	15: 47,539,213 (GRCm39)	I1508N	probably damaging	Het
Dgkh	T	C	14: 78,862,329 (GRCm39)	R80G	probably damaging	Het
Dock1	T	A	7: 134,449,902 (GRCm39)	V805D	possibly damaging	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Ercc6l2	T	A	13: 64,016,934 (GRCm39)	V679D	possibly damaging	Het
Esp6	T	C	17: 40,876,284 (GRCm39)	Y111H	probably benign	Het
Focad	T	C	4: 88,244,417 (GRCm39)	F799S	unknown	Het
Foxred1	C	A	9: 35,116,333 (GRCm39)	M438I	probably benign	Het
Galnt11	T	G	5: 25,463,943 (GRCm39)	V405G	probably damaging	Het
Gm4847	A	G	1: 166,457,935 (GRCm39)	Y473H	probably damaging	Het
Gpbp1l1	C	T	4: 116,450,115 (GRCm39)	T461M	probably damaging	Het
Hnrnpu	A	T	1: 178,158,790 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,755,646 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,705,948 (GRCm39)	H291R	probably damaging	Het
Mfsd14b	C	T	13: 65,243,506 (GRCm39)	S46N	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mylk	T	C	16: 34,820,688 (GRCm39)	I1880T	probably damaging	Het
N4bp2	T	C	5: 65,965,815 (GRCm39)	L1288P	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Nmd3	T	A	3: 69,654,049 (GRCm39)		probably benign	Het
Npdc1	G	T	2: 25,297,727 (GRCm39)	A127S	probably benign	Het
Nudt3	C	A	17: 27,842,080 (GRCm39)	R27L	probably benign	Het
Nwd1	C	T	8: 73,424,397 (GRCm39)		probably benign	Het
Pex7	T	A	10: 19,764,434 (GRCm39)	I170F	probably benign	Het
Phyhipl	A	G	10: 70,404,902 (GRCm39)	V57A	probably damaging	Het
Pkhd1	G	A	1: 20,593,053 (GRCm39)	P1687S	possibly damaging	Het
Plekhj1	A	T	10: 80,633,654 (GRCm39)		probably null	Het
Prss21	T	A	17: 24,091,968 (GRCm39)	L312H	probably damaging	Het
Samsn1	T	C	16: 75,670,408 (GRCm39)	I232V	probably null	Het
Sec63	A	T	10: 42,682,542 (GRCm39)	D411V	probably damaging	Het
Slc44a4	C	T	17: 35,146,998 (GRCm39)	H343Y	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tent2	C	T	13: 93,312,205 (GRCm39)		probably null	Het
Tmtc3	A	G	10: 100,307,905 (GRCm39)		probably benign	Het
Trafd1	C	T	5: 121,511,387 (GRCm39)	R477H	possibly damaging	Het
Uhrf2	T	A	19: 30,033,626 (GRCm39)		probably benign	Het
Vmn2r68	T	A	7: 84,871,549 (GRCm39)	D578V	possibly damaging	Het
Wdcp	G	A	12: 4,901,655 (GRCm39)	V504I	possibly damaging	Het
Wdr93	T	C	7: 79,423,196 (GRCm39)	Y487H	probably damaging	Het
Zfp457	T	C	13: 67,441,846 (GRCm39)	H147R	probably damaging	Het

Other mutations in Mtch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Mtch1	APN	17	29,559,430 (GRCm39)	missense	probably damaging	1.00
IGL01104:Mtch1	APN	17	29,555,196 (GRCm39)	missense	probably damaging	0.99
IGL02728:Mtch1	APN	17	29,557,716 (GRCm39)	missense	possibly damaging	0.55
IGL02935:Mtch1	APN	17	29,555,184 (GRCm39)	missense	probably benign
R0070:Mtch1	UTSW	17	29,559,033 (GRCm39)	splice site	probably benign
R0070:Mtch1	UTSW	17	29,559,033 (GRCm39)	splice site	probably benign
R0243:Mtch1	UTSW	17	29,559,080 (GRCm39)	missense	possibly damaging	0.78
R1829:Mtch1	UTSW	17	29,557,750 (GRCm39)	missense	probably damaging	1.00
R2156:Mtch1	UTSW	17	29,561,841 (GRCm39)	missense	probably damaging	1.00
R3845:Mtch1	UTSW	17	29,561,806 (GRCm39)	missense	probably damaging	1.00
R4849:Mtch1	UTSW	17	29,566,565 (GRCm39)	missense	probably benign	0.00
R5436:Mtch1	UTSW	17	29,566,564 (GRCm39)	missense	probably benign	0.44
R6234:Mtch1	UTSW	17	29,559,485 (GRCm39)	splice site	probably null
R6983:Mtch1	UTSW	17	29,557,750 (GRCm39)	missense	probably damaging	1.00
R7465:Mtch1	UTSW	17	29,551,698 (GRCm39)	missense	probably benign	0.00
R7939:Mtch1	UTSW	17	29,559,806 (GRCm39)	missense	probably damaging	1.00
R9244:Mtch1	UTSW	17	29,566,626 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCAGGACTTGAACACAGGGGAATAC -3'
(R):5'- TCCCTTCAGCCTGGTAGCCTAATG -3'

Sequencing Primer
(F):5'- CCTGTGGAGAACATGGGC -3'
(R):5'- AAGTTCTGCCTATGACCGTCAAG -3'

Posted On

2014-01-05