Mutagenetix > Incidental Mutation

Incidental Mutation 'R6074:Slc25a12'

482622

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

044235-MU

Accession Numbers

Essential gene?

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

Stock #

R6074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71104614-71198125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71106798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 605 (F605L)

Ref Sequence

ENSEMBL: ENSMUSP00000122103 (fasta)

Gene Model

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

AlphaFold

Q8BH59

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147553

Predicted Effect

probably benign
Transcript: ENSMUST00000151937
AA Change: F605L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000122103
Gene: ENSMUSG00000027010
AA Change: F605L

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

0.1329

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

97% (61/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo1	T	A	3: 108,099,009 (GRCm39)	C189*	probably null	Het
Auts2	G	T	5: 131,505,828 (GRCm39)		probably benign	Het
Cadps2	C	A	6: 23,626,670 (GRCm39)	W177L	probably damaging	Het
Camk2b	G	T	11: 5,939,635 (GRCm39)	P223Q	probably damaging	Het
Ccdc74a	C	A	16: 17,464,591 (GRCm39)	S9*	probably null	Het
Ccnt1	A	C	15: 98,441,205 (GRCm39)	Y688D	probably damaging	Het
Cdhr1	T	C	14: 36,801,600 (GRCm39)	N781S	probably benign	Het
Ceacam3	C	T	7: 16,885,484 (GRCm39)	T29I	probably benign	Het
Cep170b	T	C	12: 112,710,589 (GRCm39)	S1473P	probably damaging	Het
Col19a1	T	A	1: 24,565,564 (GRCm39)	T256S	unknown	Het
Eif2d	T	A	1: 131,094,079 (GRCm39)	D423E	probably damaging	Het
Fam13a	A	G	6: 58,966,723 (GRCm39)		probably null	Het
Gaa	G	A	11: 119,175,012 (GRCm39)	R871H	probably benign	Het
Galnt12	T	A	4: 47,112,405 (GRCm39)	V37D	probably damaging	Het
Glp2r	A	G	11: 67,637,640 (GRCm39)	S13P	unknown	Het
Gnptab	C	T	10: 88,268,940 (GRCm39)	L548F	probably damaging	Het
Heg1	C	T	16: 33,547,573 (GRCm39)	P787S	possibly damaging	Het
Hivep2	T	A	10: 14,007,485 (GRCm39)	M1361K	probably benign	Het
Hivep3	T	C	4: 119,954,891 (GRCm39)	I1069T	possibly damaging	Het
Hspg2	A	G	4: 137,268,046 (GRCm39)	D2121G	probably benign	Het
Htatip2	A	G	7: 49,422,322 (GRCm39)		probably null	Het
Ighv1-75	T	C	12: 115,798,007 (GRCm39)	S4G	probably benign	Het
Ip6k1	A	G	9: 107,901,308 (GRCm39)		probably benign	Het
Kcna6	A	G	6: 126,716,242 (GRCm39)	S216P	probably benign	Het
Kif21a	T	A	15: 90,865,095 (GRCm39)	T526S	probably benign	Het
Kng2	C	T	16: 22,819,346 (GRCm39)	G230D	probably benign	Het
Lgi2	A	T	5: 52,703,984 (GRCm39)	F216I	probably benign	Het
Lratd1	G	A	12: 14,200,512 (GRCm39)	H72Y	probably benign	Het
Lss	T	A	10: 76,379,693 (GRCm39)	N383K	probably damaging	Het
Mical1	T	C	10: 41,362,061 (GRCm39)	M929T	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nat8f4	A	G	6: 85,878,169 (GRCm39)	V118A	probably damaging	Het
Or10j5	T	A	1: 172,784,945 (GRCm39)	N194K	probably benign	Het
Or4p23	A	C	2: 88,576,566 (GRCm39)	L222R	probably damaging	Het
Or6b2	G	A	1: 92,407,497 (GRCm39)	T282M	probably benign	Het
Osbpl11	T	A	16: 33,030,335 (GRCm39)	S188T	probably benign	Het
Pea15a	C	T	1: 172,026,752 (GRCm39)	R85H	possibly damaging	Het
Ppp1r13b	A	G	12: 111,798,836 (GRCm39)	I919T	probably damaging	Het
Rasgrf1	A	G	9: 89,835,968 (GRCm39)	D232G	probably benign	Het
Rp1	A	G	1: 4,415,602 (GRCm39)	S1837P	probably benign	Het
Samd5	T	A	10: 9,550,334 (GRCm39)	Y125F	possibly damaging	Het
Skint5	T	C	4: 113,662,397 (GRCm39)	T597A	unknown	Het
Slc39a12	C	T	2: 14,412,290 (GRCm39)	Q321*	probably null	Het
Slc6a19	T	C	13: 73,837,882 (GRCm39)	S206G	probably benign	Het
Tacc2	T	A	7: 130,227,165 (GRCm39)	H1283Q	possibly damaging	Het
Thumpd3	A	G	6: 113,036,971 (GRCm39)	E290G	possibly damaging	Het
Timd2	C	T	11: 46,577,999 (GRCm39)	G44D	possibly damaging	Het
Tmem74	A	G	15: 43,730,134 (GRCm39)	V303A	possibly damaging	Het
Tpo	A	G	12: 30,128,186 (GRCm39)	V785A	probably benign	Het
Tpra1	T	A	6: 88,888,919 (GRCm39)	I367N	possibly damaging	Het
Txnrd2	T	C	16: 18,256,297 (GRCm39)	I95T	probably damaging	Het
Usp32	A	G	11: 84,885,399 (GRCm39)	V1216A	probably benign	Het
Usp54	C	A	14: 20,602,167 (GRCm39)	M1394I	probably benign	Het
Vmn2r13	A	G	5: 109,322,167 (GRCm39)	F177L	probably benign	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Wdfy4	C	T	14: 32,805,596 (GRCm39)		probably null	Het
Wnk2	A	T	13: 49,204,875 (GRCm39)	C458S	probably damaging	Het
Xkr6	T	G	14: 63,844,519 (GRCm39)	F181V	possibly damaging	Het
Zfp212	T	A	6: 47,903,986 (GRCm39)	C149*	probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp661	A	G	2: 127,419,793 (GRCm39)	S116P	probably benign	Het
Zfp770	A	G	2: 114,026,870 (GRCm39)	Y400H	possibly damaging	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
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
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'- ATTTGCCTCTCTTAATGTGGAAGGC -3'
(R):5'- CGGCATTTTGGAAAGGGACTG -3'

Posted On

2017-07-14