Mutagenetix > Incidental Mutation

Incidental Mutation 'R0044:Slc25a30'

32907

Institutional Source

Beutler Lab

Gene Symbol

Slc25a30

Ensembl Gene

ENSMUSG00000022003

Gene Name

solute carrier family 25, member 30

Synonyms

KMCP1, 4933433D23Rik

MMRRC Submission

038338-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0044 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75997557-76024477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76007089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 85 (A85T)

Ref Sequence

ENSEMBL: ENSMUSP00000153810 (fasta)

Gene Model

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

AlphaFold

Q9CR58

Predicted Effect

probably benign
Transcript: ENSMUST00000022580
AA Change: A136T

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022580
Gene: ENSMUSG00000022003
AA Change: A136T

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
AA Change: A85T

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.3152

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

100% (77/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430571L13Rik	A	C	9: 107,219,698 (GRCm39)	R50S	probably damaging	Het
Actn2	G	T	13: 12,290,013 (GRCm39)	T176N	possibly damaging	Het
Adamts7	T	C	9: 90,053,641 (GRCm39)	V62A	possibly damaging	Het
Adcy2	A	G	13: 68,876,018 (GRCm39)	S495P	possibly damaging	Het
Agbl3	A	T	6: 34,776,834 (GRCm39)	M447L	probably damaging	Het
Asxl1	C	T	2: 153,242,129 (GRCm39)	T893I	probably benign	Het
Atp11b	T	A	3: 35,866,401 (GRCm39)	I400N	probably damaging	Het
Bpifb2	C	T	2: 153,724,599 (GRCm39)		probably benign	Het
Capn1	T	A	19: 6,064,373 (GRCm39)	Y42F	probably benign	Het
Cdk5rap2	A	T	4: 70,279,138 (GRCm39)	L190H	probably damaging	Het
Cfap54	T	C	10: 92,871,295 (GRCm39)	I594V	probably null	Het
Cpsf1	A	G	15: 76,483,753 (GRCm39)	V830A	probably benign	Het
Cyp2c70	T	A	19: 40,153,815 (GRCm39)	N258I	possibly damaging	Het
Dctn1	T	G	6: 83,168,116 (GRCm39)	Y386D	probably damaging	Het
Degs2	T	C	12: 108,658,413 (GRCm39)	N189D	probably damaging	Het
Dido1	C	T	2: 180,303,612 (GRCm39)	A1431T	probably damaging	Het
Diras1	G	T	10: 80,857,972 (GRCm39)	S93*	probably null	Het
E130308A19Rik	T	A	4: 59,690,290 (GRCm39)	H41Q	possibly damaging	Het
Ebf2	C	T	14: 67,548,417 (GRCm39)		probably benign	Het
Fcho2	A	G	13: 98,892,052 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,358,020 (GRCm39)	Y681*	probably null	Het
Gm10036	A	C	18: 15,965,873 (GRCm39)	K8T	probably benign	Het
Herc1	T	A	9: 66,355,457 (GRCm39)	M2236K	probably benign	Het
Hmcn2	A	T	2: 31,302,520 (GRCm39)	Y2948F	probably damaging	Het
Jakmip2	A	T	18: 43,715,170 (GRCm39)	C119S	probably benign	Het
Kif1b	A	G	4: 149,348,058 (GRCm39)		probably benign	Het
Kif6	T	C	17: 50,139,284 (GRCm39)		probably benign	Het
Lpin1	A	T	12: 16,618,530 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,357,899 (GRCm39)	I377V	probably benign	Het
Mavs	C	A	2: 131,083,944 (GRCm39)	T147N	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mreg	T	G	1: 72,201,534 (GRCm39)	T153P	probably damaging	Het
Naglu	T	C	11: 100,962,043 (GRCm39)	I172T	probably damaging	Het
Odad4	A	T	11: 100,457,827 (GRCm39)	I477F	probably damaging	Het
Ogdhl	T	C	14: 32,061,285 (GRCm39)	V492A	possibly damaging	Het
Or4a72	A	G	2: 89,405,974 (GRCm39)	I32T	possibly damaging	Het
Parvg	A	G	15: 84,222,083 (GRCm39)	E323G	probably benign	Het
Pgap1	A	G	1: 54,532,527 (GRCm39)	L664S	probably damaging	Het
Pgm2l1	A	G	7: 99,899,539 (GRCm39)	N51S	probably benign	Het
Pik3r6	A	G	11: 68,435,576 (GRCm39)	T609A	probably benign	Het
Plcb4	T	A	2: 135,813,776 (GRCm39)	V705E	probably damaging	Het
Plppr5	T	A	3: 117,465,538 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,120,989 (GRCm39)	D411Y	probably damaging	Het
Ptprd	A	G	4: 76,004,566 (GRCm39)	V63A	probably benign	Het
Ptprz1	T	A	6: 23,007,402 (GRCm39)	I1655N	probably damaging	Het
Raf1	T	A	6: 115,600,476 (GRCm39)	D10V	probably benign	Het
Rexo1	T	A	10: 80,380,212 (GRCm39)	Q928L	probably benign	Het
Rpl7l1	A	C	17: 47,089,456 (GRCm39)		probably null	Het
Rrm2b	A	G	15: 37,953,932 (GRCm39)	S39P	possibly damaging	Het
Scn5a	A	G	9: 119,321,113 (GRCm39)		probably null	Het
Sgtb	A	G	13: 104,265,768 (GRCm39)	T93A	probably benign	Het
Sigirr	G	T	7: 140,672,226 (GRCm39)		probably null	Het
Slc16a7	T	C	10: 125,063,951 (GRCm39)	D462G	probably benign	Het
Spata24	A	G	18: 35,789,887 (GRCm39)	S167P	probably damaging	Het
Spock3	C	T	8: 63,597,041 (GRCm39)	T115I	possibly damaging	Het
Srgap2	A	G	1: 131,247,289 (GRCm39)	I581T	possibly damaging	Het
Syn2	A	T	6: 115,112,108 (GRCm39)	M23L	unknown	Het
Synrg	G	A	11: 83,900,007 (GRCm39)	V839I	probably damaging	Het
Tmtc1	A	G	6: 148,314,327 (GRCm39)		probably benign	Het
Tnfaip3	C	A	10: 18,887,374 (GRCm39)	M50I	probably damaging	Het
Topbp1	T	A	9: 103,202,972 (GRCm39)	I721N	possibly damaging	Het
Ttc22	T	G	4: 106,494,003 (GRCm39)	V321G	probably benign	Het
Ubr2	A	G	17: 47,303,911 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,164,369 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,269,281 (GRCm39)		probably benign	Het
Vmn2r100	A	T	17: 19,742,441 (GRCm39)	I272L	possibly damaging	Het
Vrtn	T	A	12: 84,695,379 (GRCm39)	L43H	probably damaging	Het
Wnk1	G	T	6: 120,014,110 (GRCm39)	R162S	probably damaging	Het
Xkr9	G	A	1: 13,754,286 (GRCm39)	W93*	probably null	Het
Zfp804b	G	T	5: 6,819,655 (GRCm39)	P1136H	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
IGL02573:Slc25a30	APN	14	76,007,108 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- AGGCAGGAAGTGGCATTCTTCTTAC -3'
(R):5'- CCATCACTTGAAGACCAGGTGTAGC -3'

Sequencing Primer
(F):5'- TTCTTACGCCGCGAGGAC -3'
(R):5'- actcactcaatcaatagacctcc -3'

Posted On

2013-05-09