Mutagenetix > Incidental Mutation

Incidental Mutation 'R1148:Slc25a12'

165187

Institutional Source

Beutler Lab

Gene Symbol

Slc25a12

Ensembl Gene

ENSMUSG00000027010

Gene Name

solute carrier family 25 (mitochondrial carrier, Aralar), member 12

Synonyms

B230107K20Rik

MMRRC Submission

039221-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R1148 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71104614-71198125 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 71142912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000151937] [ENSMUST00000184169]

AlphaFold

Q8BH59

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137916

Predicted Effect

probably benign
Transcript: ENSMUST00000151937

SMART Domains

Protein: ENSMUSP00000122103
Gene: ENSMUSG00000027010

Domain	Start	End	E-Value	Type
EFh	56	84	1.83e1	SMART
EFh	90	118	5.8e-1	SMART
EFh	161	189	2.49e0	SMART
Pfam:Mito_carr	324	421	3e-27	PFAM
Pfam:Mito_carr	422	513	2.9e-18	PFAM
Pfam:Mito_carr	515	609	2.1e-27	PFAM
low complexity region	662	677	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184169

SMART Domains

Protein: ENSMUSP00000139371
Gene: ENSMUSG00000027010

Domain	Start	End	E-Value	Type
SCOP:d1irja_	3	71	5e-5	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
AC149051.1	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Alg10b	T	C	15: 90,112,068 (GRCm39)	F304S	possibly damaging	Het
Ank3	C	T	10: 69,718,369 (GRCm39)	S540F	probably damaging	Het
Arhgef16	T	C	4: 154,365,346 (GRCm39)	N590D	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bbs9	T	C	9: 22,486,396 (GRCm39)		probably benign	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Cilp	T	A	9: 65,187,598 (GRCm39)	L1231Q	possibly damaging	Het
Coq8a	G	A	1: 179,996,968 (GRCm39)		probably benign	Het
Cyp4x1	A	G	4: 114,983,752 (GRCm39)		probably benign	Het
Dars1	T	C	1: 128,294,646 (GRCm39)		probably benign	Het
Disp2	G	A	2: 118,636,899 (GRCm39)		probably null	Het
Dnah5	T	C	15: 28,421,836 (GRCm39)	L3896P	probably damaging	Het
Dpp8	T	C	9: 64,961,114 (GRCm39)		probably null	Het
Esp4	A	C	17: 40,913,262 (GRCm39)	N43T	probably benign	Het
Fat3	T	C	9: 15,908,070 (GRCm39)	D2644G	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Homo
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Lonp2	A	G	8: 87,363,168 (GRCm39)	E262G	probably benign	Het
Ly6h	G	T	15: 75,437,021 (GRCm39)	S118R	unknown	Het
Mapk12	T	C	15: 89,018,826 (GRCm39)	Y203C	probably damaging	Het
Mapk15	A	G	15: 75,870,004 (GRCm39)	T375A	probably benign	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or5g9	C	A	2: 85,552,620 (GRCm39)	Y290*	probably null	Het
Osbpl11	T	C	16: 33,047,582 (GRCm39)	F515S	probably damaging	Het
Pcdh15	T	C	10: 74,006,392 (GRCm39)	V90A	probably damaging	Het
Ptpn4	T	A	1: 119,603,439 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,612,270 (GRCm39)	D41G	probably damaging	Het
Rbm4b	A	G	19: 4,807,527 (GRCm39)	H81R	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sh3d19	A	G	3: 86,014,634 (GRCm39)	D475G	possibly damaging	Het
Shprh	T	C	10: 11,089,226 (GRCm39)	S1655P	possibly damaging	Het
Strc	A	G	2: 121,202,558 (GRCm39)		probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Ttc22	G	A	4: 106,480,228 (GRCm39)	V161M	probably damaging	Het
Unc79	T	C	12: 103,078,926 (GRCm39)	L1504P	probably damaging	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Wnk1	A	G	6: 119,928,967 (GRCm39)		probably benign	Het
Wsb2	T	C	5: 117,508,742 (GRCm39)		probably benign	Het

Other mutations in Slc25a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Slc25a12	APN	2	71,174,376 (GRCm39)	missense	possibly damaging	0.63
IGL01116:Slc25a12	APN	2	71,123,696 (GRCm39)	splice site	probably benign
IGL01375:Slc25a12	APN	2	71,138,394 (GRCm39)	splice site	probably benign
IGL02631:Slc25a12	APN	2	71,127,086 (GRCm39)	missense	possibly damaging	0.90
IGL02899:Slc25a12	APN	2	71,109,979 (GRCm39)	missense	probably damaging	1.00
R0031:Slc25a12	UTSW	2	71,163,958 (GRCm39)	missense	possibly damaging	0.93
R0689:Slc25a12	UTSW	2	71,141,837 (GRCm39)	missense	possibly damaging	0.95
R1148:Slc25a12	UTSW	2	71,142,912 (GRCm39)	splice site	probably benign
R1832:Slc25a12	UTSW	2	71,164,054 (GRCm39)	missense	possibly damaging	0.85
R2044:Slc25a12	UTSW	2	71,142,892 (GRCm39)	missense	probably benign	0.00
R4537:Slc25a12	UTSW	2	71,105,450 (GRCm39)	utr 3 prime	probably benign
R4668:Slc25a12	UTSW	2	71,145,406 (GRCm39)	missense	probably benign	0.22
R4830:Slc25a12	UTSW	2	71,127,149 (GRCm39)	missense	probably damaging	1.00
R5476:Slc25a12	UTSW	2	71,105,666 (GRCm39)	missense	probably benign
R5698:Slc25a12	UTSW	2	71,112,917 (GRCm39)	missense	probably damaging	1.00
R6074:Slc25a12	UTSW	2	71,106,798 (GRCm39)	missense	probably benign	0.01
R6516:Slc25a12	UTSW	2	71,154,427 (GRCm39)	missense	probably damaging	0.97
R7270:Slc25a12	UTSW	2	71,154,369 (GRCm39)	missense	probably benign
R7794:Slc25a12	UTSW	2	71,141,852 (GRCm39)	missense	probably damaging	1.00
R8022:Slc25a12	UTSW	2	71,105,533 (GRCm39)	missense	unknown
R9295:Slc25a12	UTSW	2	71,128,986 (GRCm39)	missense	possibly damaging	0.92
R9715:Slc25a12	UTSW	2	71,109,899 (GRCm39)	missense	probably benign	0.43
Z1176:Slc25a12	UTSW	2	71,127,090 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGGGCCAAAGGCTCTTTTCAAAAC -3'
(R):5'- GTGAGCCATGAACTCCAACTTCCAG -3'

Sequencing Primer
(F):5'- GGGCCTCACATCTATCTGATGAAG -3'
(R):5'- CTCCCCTAAGGGTACAAAGTG -3'

Posted On

2014-03-28