Mutagenetix > Incidental Mutation

Incidental Mutation 'R5198:Slc25a30'

400516

Institutional Source

Beutler Lab

Gene Symbol

Slc25a30

Ensembl Gene

ENSMUSG00000022003

Gene Name

solute carrier family 25, member 30

Synonyms

KMCP1, 4933433D23Rik

MMRRC Submission

042774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75997557-76024477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76007056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 147 (D147Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022580 (fasta)

Gene Model

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

AlphaFold

Q9CR58

Predicted Effect

probably benign
Transcript: ENSMUST00000022580
AA Change: D147Y

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022580
Gene: ENSMUSG00000022003
AA Change: D147Y

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,571,726 (GRCm39)	V1121A	probably benign	Het
Adamtsl3	A	C	7: 82,261,006 (GRCm39)	K1647Q	possibly damaging	Het
Adgrb1	A	T	15: 74,415,550 (GRCm39)	Q710L	probably null	Het
Alox12	T	C	11: 70,145,243 (GRCm39)	E110G	probably damaging	Het
Cep152	T	A	2: 125,429,544 (GRCm39)	M738L	probably benign	Het
Cma2	T	C	14: 56,209,532 (GRCm39)	V38A	probably benign	Het
Dlc1	C	T	8: 37,405,552 (GRCm39)	G79D	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dus3l	A	G	17: 57,076,574 (GRCm39)	I585V	probably benign	Het
Etl4	A	G	2: 20,718,198 (GRCm39)	Y313C	probably damaging	Het
Fbxw15	C	A	9: 109,387,242 (GRCm39)	S251I	probably benign	Het
Gata4	G	A	14: 63,437,900 (GRCm39)	S417L	probably benign	Het
Gdpd5	T	A	7: 99,087,515 (GRCm39)	Y60N	probably damaging	Het
Gm17669	T	C	18: 67,695,626 (GRCm39)	M57T	probably benign	Het
Gpr39	A	T	1: 125,605,173 (GRCm39)	I34F	probably benign	Het
Iffo2	T	A	4: 139,302,528 (GRCm39)	D90E	probably benign	Het
Il17c	A	G	8: 123,149,108 (GRCm39)	D84G	possibly damaging	Het
Itih3	T	C	14: 30,634,606 (GRCm39)	T134A	probably benign	Het
Lama2	G	A	10: 27,222,999 (GRCm39)	A429V	probably damaging	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mug1	G	A	6: 121,851,521 (GRCm39)	R806H	probably damaging	Het
Naaa	G	A	5: 92,415,904 (GRCm39)	R65*	probably null	Het
Nacc2	C	T	2: 25,950,346 (GRCm39)	M463I	probably benign	Het
Nemf	A	G	12: 69,402,821 (GRCm39)	S72P	probably damaging	Het
Nudt7	G	A	8: 114,862,185 (GRCm39)		probably null	Het
Or4b1b	T	C	2: 90,126,737 (GRCm39)	Q156R	probably damaging	Het
Or52z15	T	C	7: 103,331,936 (GRCm39)	S4P	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacs1	T	C	19: 5,189,325 (GRCm39)	D757G	probably benign	Het
Pkd2	A	C	5: 104,630,958 (GRCm39)	I461L	probably benign	Het
Potegl	G	A	2: 23,102,473 (GRCm39)	C121Y	probably damaging	Het
Pramel5	T	G	4: 144,000,064 (GRCm39)		probably benign	Het
Ptgdr	G	C	14: 45,096,300 (GRCm39)	F137L	probably damaging	Het
Pum1	T	A	4: 130,507,190 (GRCm39)	C1085*	probably null	Het
Rfx3	T	C	19: 27,808,176 (GRCm39)	D189G	probably damaging	Het
Rlf	T	A	4: 121,005,750 (GRCm39)	K1077*	probably null	Het
Smap2	T	C	4: 120,873,984 (GRCm39)	E22G	possibly damaging	Het
Szt2	T	C	4: 118,245,519 (GRCm39)	T1098A	probably benign	Het
Tbcc	T	C	17: 47,201,788 (GRCm39)	F58S	probably damaging	Het
Tekt3	G	A	11: 62,961,134 (GRCm39)	R101H	probably damaging	Het
Vcan	T	A	13: 89,838,991 (GRCm39)	E2184D	probably damaging	Het
Vkorc1	T	C	7: 127,493,760 (GRCm39)	E18G	probably benign	Het
Vmn1r68	T	C	7: 10,261,723 (GRCm39)	H125R	probably benign	Het
Vmn2r63	C	A	7: 42,553,169 (GRCm39)	V696L	probably benign	Het
Wdr59	G	A	8: 112,208,620 (GRCm39)	H421Y	probably benign	Het
Xkr7	T	C	2: 152,896,873 (GRCm39)	Y576H	probably damaging	Het
Zfp112	T	C	7: 23,824,281 (GRCm39)	V83A	possibly damaging	Het
Zfp616	G	A	11: 73,974,336 (GRCm39)	V293I	probably benign	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
IGL02573:Slc25a30	APN	14	76,007,108 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGTACTCAGCTATCACAAAACCCTG -3'
(R):5'- ATTGCCAGTTTTCCCCAAACAC -3'

Sequencing Primer
(F):5'- GCTATCACAAAACCCTGTGTATG -3'
(R):5'- CCGTTACACCATTAAGCACTAGGTG -3'

Posted On

2016-07-06