Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02573:Slc25a30'

299121

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a30

Ensembl Gene

ENSMUSG00000022003

Gene Name

solute carrier family 25, member 30

Synonyms

KMCP1, 4933433D23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02573

Quality Score

Status

Chromosome

Chromosomal Location

75997557-76024477 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 76007108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022580] [ENSMUST00000227894]

AlphaFold

Q9CR58

Predicted Effect

probably benign
Transcript: ENSMUST00000022580

SMART Domains

Protein: ENSMUSP00000022580
Gene: ENSMUSG00000022003

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	2	100	1.2e-22	PFAM
Pfam:Mito_carr	102	194	3.2e-22	PFAM
Pfam:Mito_carr	197	290	7.4e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226574

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227621

Predicted Effect

probably benign
Transcript: ENSMUST00000227894

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl3	T	A	4: 98,926,171 (GRCm39)	W434R	probably damaging	Het
Atp7b	T	C	8: 22,512,486 (GRCm39)	Q344R	probably benign	Het
B4galt5	C	T	2: 167,146,982 (GRCm39)	R284Q	probably benign	Het
Ccdc80	T	G	16: 44,915,952 (GRCm39)	V236G	probably damaging	Het
Chd8	T	C	14: 52,457,191 (GRCm39)	I926V	possibly damaging	Het
Dgkz	A	C	2: 91,764,542 (GRCm39)	S1030R	probably damaging	Het
Disp3	T	A	4: 148,355,906 (GRCm39)	D318V	probably damaging	Het
Dnaaf10	T	C	11: 17,162,136 (GRCm39)	L58P	possibly damaging	Het
Ehd1	T	C	19: 6,344,330 (GRCm39)	S197P	probably damaging	Het
Emp1	A	G	6: 135,356,945 (GRCm39)	K42R	probably benign	Het
Garin4	G	A	1: 190,896,067 (GRCm39)	T192I	probably damaging	Het
Gm4922	T	A	10: 18,659,423 (GRCm39)	D433V	probably benign	Het
Gsdma	T	C	11: 98,561,577 (GRCm39)		probably benign	Het
Hspbp1	G	T	7: 4,680,852 (GRCm39)	A208E	probably damaging	Het
Il5ra	A	T	6: 106,693,712 (GRCm39)	V342E	possibly damaging	Het
Kif13b	T	C	14: 65,040,880 (GRCm39)	F1660S	probably damaging	Het
Lvrn	A	G	18: 47,010,016 (GRCm39)	E388G	probably damaging	Het
Mettl17	G	A	14: 52,125,504 (GRCm39)		probably null	Het
Mgat5b	T	C	11: 116,868,540 (GRCm39)	Y488H	probably benign	Het
Mtr	A	T	13: 12,214,013 (GRCm39)	D886E	possibly damaging	Het
Naip6	A	T	13: 100,435,979 (GRCm39)	L848*	probably null	Het
Nav3	A	G	10: 109,702,835 (GRCm39)	S233P	probably benign	Het
Nme9	A	T	9: 99,352,908 (GRCm39)	D286V	probably benign	Het
Nod1	C	A	6: 54,920,930 (GRCm39)	A463S	probably benign	Het
Nthl1	A	G	17: 24,852,949 (GRCm39)	K51R	probably benign	Het
Or1n2	A	G	2: 36,797,566 (GRCm39)	I203V	probably damaging	Het
Or6k14	T	A	1: 173,927,696 (GRCm39)	V224D	possibly damaging	Het
Pcnx2	G	A	8: 126,582,012 (GRCm39)	A908V	probably benign	Het
Pdcd6	A	G	13: 74,452,098 (GRCm39)	Y181H	probably damaging	Het
Pde10a	A	C	17: 9,180,722 (GRCm39)	I719L	probably benign	Het
Pikfyve	T	A	1: 65,270,014 (GRCm39)		probably null	Het
Plekha5	G	T	6: 140,527,742 (GRCm39)	A396S	probably damaging	Het
Ppfia2	A	G	10: 106,664,789 (GRCm39)	T342A	probably damaging	Het
Rbck1	A	G	2: 152,164,087 (GRCm39)	I339T	possibly damaging	Het
Rbms2	A	T	10: 127,979,309 (GRCm39)	I140N	probably damaging	Het
Scn1b	A	T	7: 30,822,546 (GRCm39)	L78Q	possibly damaging	Het
Slc12a6	T	C	2: 112,188,986 (GRCm39)		probably null	Het
Slc30a7	C	T	3: 115,783,796 (GRCm39)		probably benign	Het
Slc5a10	C	A	11: 61,563,898 (GRCm39)	R546L	possibly damaging	Het
Stxbp4	T	C	11: 90,431,095 (GRCm39)	D405G	probably damaging	Het
Tm4sf19	A	C	16: 32,226,678 (GRCm39)	T156P	possibly damaging	Het
Tmem37	A	T	1: 119,995,719 (GRCm39)	D119E	probably damaging	Het
Tor1aip1	T	A	1: 155,889,117 (GRCm39)	N113I	probably damaging	Het
Ubac2	T	A	14: 122,144,802 (GRCm39)	Y87N	possibly damaging	Het
Usp29	A	T	7: 6,965,617 (GRCm39)		probably null	Het
Zfp276	A	G	8: 123,991,736 (GRCm39)	E428G	probably damaging	Het

Other mutations in Slc25a30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Slc25a30	APN	14	76,004,365 (GRCm39)	missense	possibly damaging	0.90
IGL00922:Slc25a30	APN	14	76,007,038 (GRCm39)	missense	probably damaging	1.00
IGL01310:Slc25a30	APN	14	76,007,037 (GRCm39)	missense	probably damaging	1.00
IGL02135:Slc25a30	APN	14	76,004,435 (GRCm39)	missense	probably benign	0.00
R0044:Slc25a30	UTSW	14	76,007,089 (GRCm39)	missense	probably benign	0.37
R0330:Slc25a30	UTSW	14	76,000,112 (GRCm39)	nonsense	probably null
R1743:Slc25a30	UTSW	14	76,012,523 (GRCm39)	missense	probably benign	0.01
R1744:Slc25a30	UTSW	14	76,000,770 (GRCm39)	missense	probably damaging	1.00
R1950:Slc25a30	UTSW	14	76,007,007 (GRCm39)	missense	possibly damaging	0.55
R2122:Slc25a30	UTSW	14	76,007,658 (GRCm39)	missense	possibly damaging	0.90
R2880:Slc25a30	UTSW	14	76,007,651 (GRCm39)	missense	probably benign	0.05
R4791:Slc25a30	UTSW	14	76,000,806 (GRCm39)	missense	probably benign	0.00
R5158:Slc25a30	UTSW	14	76,008,956 (GRCm39)	missense	probably damaging	1.00
R5198:Slc25a30	UTSW	14	76,007,056 (GRCm39)	missense	probably benign	0.03
R5505:Slc25a30	UTSW	14	76,000,789 (GRCm39)	missense	probably damaging	1.00
R6485:Slc25a30	UTSW	14	76,012,447 (GRCm39)	missense	probably damaging	1.00
R8393:Slc25a30	UTSW	14	76,012,451 (GRCm39)	missense	probably benign	0.04
R8859:Slc25a30	UTSW	14	76,008,917 (GRCm39)	missense	probably benign	0.42
X0027:Slc25a30	UTSW	14	76,004,413 (GRCm39)	missense	probably benign	0.38

Posted On

2015-04-16