Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00959:Slc25a20'

28224

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a20

Ensembl Gene

ENSMUSG00000032602

Gene Name

solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20

Synonyms

Cact, mCAC, 1110007P09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00959

Quality Score

Status

Chromosome

Chromosomal Location

108539335-108561841 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108559198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 188 (M188R)

Ref Sequence

ENSEMBL: ENSMUSP00000035222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035222]

AlphaFold

Q9Z2Z6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035222
AA Change: M188R

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035222
Gene: ENSMUSG00000032602
AA Change: M188R

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	6	104	4.9e-25	PFAM
Pfam:Mito_carr	106	201	5.6e-27	PFAM
Pfam:Mito_carr	205	297	7.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195260

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	A	T	11: 69,057,069 (GRCm39)	H430L	probably damaging	Het
Aox4	G	T	1: 58,278,333 (GRCm39)	V443F	probably damaging	Het
Bmpr2	A	T	1: 59,854,474 (GRCm39)	I108F	possibly damaging	Het
Cflar	G	A	1: 58,768,321 (GRCm39)		probably null	Het
Chchd3	A	G	6: 32,945,188 (GRCm39)	V106A	probably benign	Het
Chl1	G	T	6: 103,686,211 (GRCm39)		probably null	Het
Clvs2	C	T	10: 33,404,459 (GRCm39)	M252I	probably benign	Het
Cntnap5a	T	A	1: 116,112,057 (GRCm39)	L449Q	probably benign	Het
Col6a2	T	A	10: 76,450,368 (GRCm39)	I188F	probably damaging	Het
Cyp2c55	A	G	19: 39,026,587 (GRCm39)	D398G	probably benign	Het
Dennd1b	T	C	1: 139,071,626 (GRCm39)		probably benign	Het
Dop1a	T	A	9: 86,369,484 (GRCm39)	Y106N	probably damaging	Het
Dpy19l1	A	T	9: 24,334,493 (GRCm39)		probably null	Het
Extl3	C	T	14: 65,314,361 (GRCm39)	V274I	probably benign	Het
Fras1	G	A	5: 96,929,140 (GRCm39)	R3848H	probably damaging	Het
Gm11437	A	C	11: 84,039,448 (GRCm39)		probably benign	Het
Gss	T	A	2: 155,423,871 (GRCm39)	D2V	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ilvbl	G	A	10: 78,419,739 (GRCm39)	D548N	probably damaging	Het
Jmjd6	A	T	11: 116,733,202 (GRCm39)	D115E	possibly damaging	Het
Kidins220	T	A	12: 25,101,132 (GRCm39)	S1110R	possibly damaging	Het
Kmt2c	T	A	5: 25,481,227 (GRCm39)	I4784F	probably damaging	Het
Mrpl52	T	C	14: 54,664,494 (GRCm39)	V11A	possibly damaging	Het
Myo3b	A	G	2: 70,144,636 (GRCm39)	Y1036C	probably damaging	Het
Omp	T	C	7: 97,794,357 (GRCm39)	D90G	probably damaging	Het
Or6c2b	T	A	10: 128,947,893 (GRCm39)	M134L	probably benign	Het
Osmr	T	C	15: 6,854,086 (GRCm39)	I541V	probably benign	Het
Ppp2r1a	A	T	17: 21,181,840 (GRCm39)		probably benign	Het
Ptpn13	T	A	5: 103,665,437 (GRCm39)		probably null	Het
Rock2	C	A	12: 17,028,056 (GRCm39)	N1429K	probably benign	Het
Saxo4	A	T	19: 10,454,887 (GRCm39)		probably null	Het
Slc28a1	T	C	7: 80,818,816 (GRCm39)		probably benign	Het
Sult2a6	T	C	7: 13,988,634 (GRCm39)	Y42C	probably damaging	Het
Tgfb2	A	G	1: 186,436,784 (GRCm39)	V63A	probably benign	Het
Ugt2b38	A	T	5: 87,559,682 (GRCm39)	N403K	probably damaging	Het
Vmn2r29	A	G	7: 7,244,855 (GRCm39)	W340R	probably benign	Het
Wnt5a	C	T	14: 28,244,866 (GRCm39)	T351M	probably damaging	Het

Other mutations in Slc25a20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02496:Slc25a20	APN	9	108,559,599 (GRCm39)	missense	probably damaging	1.00
R0882:Slc25a20	UTSW	9	108,559,189 (GRCm39)	missense	possibly damaging	0.52
R1294:Slc25a20	UTSW	9	108,554,838 (GRCm39)	missense	probably benign	0.14
R1881:Slc25a20	UTSW	9	108,557,408 (GRCm39)	splice site	probably null
R4936:Slc25a20	UTSW	9	108,559,191 (GRCm39)	missense	probably damaging	1.00
R7298:Slc25a20	UTSW	9	108,539,343 (GRCm39)	start gained	probably benign
R7347:Slc25a20	UTSW	9	108,559,657 (GRCm39)	critical splice donor site	probably null
R7400:Slc25a20	UTSW	9	108,559,172 (GRCm39)	missense	possibly damaging	0.78
R7631:Slc25a20	UTSW	9	108,539,491 (GRCm39)	missense	probably benign	0.03
R9139:Slc25a20	UTSW	9	108,557,398 (GRCm39)	missense	probably benign	0.24
R9603:Slc25a20	UTSW	9	108,549,675 (GRCm39)	missense	probably benign	0.20

Posted On

2013-04-17