Mutagenetix > Incidental Mutation

Incidental Mutation 'R5698:Slc25a12'

450765

Institutional Source

Beutler Lab

Gene Symbol

Slc25a12

Ensembl Gene

ENSMUSG00000027010

Gene Name

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

Synonyms

B230107K20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R5698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71104614-71198125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71112917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 448 (E448G)

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 damaging
Transcript: ENSMUST00000151937
AA Change: E448G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122103
Gene: ENSMUSG00000027010
AA Change: E448G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	A	G	11: 3,926,366 (GRCm39)	K334E	possibly damaging	Het
Ache	G	A	5: 137,288,821 (GRCm39)	V176M	probably damaging	Het
Acss3	T	C	10: 106,784,605 (GRCm39)	D539G	probably damaging	Het
Adam6b	T	A	12: 113,455,083 (GRCm39)	D633E	probably benign	Het
Aldh16a1	G	A	7: 44,803,831 (GRCm39)		probably benign	Het
Amigo2	G	A	15: 97,143,607 (GRCm39)	Q272*	probably null	Het
Aoc1l1	A	G	6: 48,953,256 (GRCm39)	T394A	possibly damaging	Het
Appbp2	A	T	11: 85,100,925 (GRCm39)	H171Q	probably damaging	Het
Arhgef18	A	G	8: 3,489,499 (GRCm39)	D277G	probably damaging	Het
Armc8	A	G	9: 99,417,873 (GRCm39)	V95A	probably benign	Het
Atp6v0a4	C	T	6: 38,027,442 (GRCm39)		probably null	Het
Atp8a1	A	T	5: 67,924,496 (GRCm39)	N289K	probably benign	Het
Cand2	C	T	6: 115,768,704 (GRCm39)	L505F	probably damaging	Het
Ccnt2	A	G	1: 127,730,965 (GRCm39)	K614R	probably benign	Het
Col25a1	A	G	3: 130,272,632 (GRCm39)		probably null	Het
Copa	T	A	1: 171,946,511 (GRCm39)	L976*	probably null	Het
Ddx39b	T	C	17: 35,470,287 (GRCm39)	V267A	probably benign	Het
Dpp4	T	A	2: 62,164,655 (GRCm39)	Q709L	probably damaging	Het
Eno4	A	G	19: 58,956,904 (GRCm39)		probably null	Het
Exoc3	A	G	13: 74,322,134 (GRCm39)	L647P	probably benign	Het
Eya4	T	C	10: 23,015,975 (GRCm39)	S308G	possibly damaging	Het
Fbxo41	T	C	6: 85,454,638 (GRCm39)	T693A	possibly damaging	Het
Fcgbp	A	G	7: 27,791,447 (GRCm39)	T903A	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Frem2	A	G	3: 53,559,926 (GRCm39)	I1527T	possibly damaging	Het
H13	T	A	2: 152,530,875 (GRCm39)	I220N	probably damaging	Het
Has2	T	C	15: 56,531,312 (GRCm39)	R468G	probably damaging	Het
Ighmbp2	A	G	19: 3,324,538 (GRCm39)	S243P	probably damaging	Het
Irs1	T	C	1: 82,266,455 (GRCm39)	H587R	probably benign	Het
Kcnk1	C	T	8: 126,752,144 (GRCm39)	T250M	probably damaging	Het
Kif9	T	C	9: 110,339,532 (GRCm39)	V458A	probably benign	Het
Krt14	T	C	11: 100,096,451 (GRCm39)	T208A	probably benign	Het
Mybpc3	C	A	2: 90,955,194 (GRCm39)	H349Q	possibly damaging	Het
Neurl3	T	A	1: 36,305,587 (GRCm39)	T207S	possibly damaging	Het
Nol9	T	C	4: 152,135,031 (GRCm39)	V388A	probably damaging	Het
Notch3	T	C	17: 32,376,961 (GRCm39)	N315D	probably damaging	Het
Oas1h	G	T	5: 121,009,045 (GRCm39)	A252S	probably damaging	Het
Or13c7b	C	A	4: 43,821,183 (GRCm39)	M59I	probably damaging	Het
Pcbp1	G	A	6: 86,502,134 (GRCm39)	T255M	possibly damaging	Het
Plec	A	G	15: 76,083,808 (GRCm39)	V18A	probably benign	Het
Ppp1r17	A	T	6: 56,003,529 (GRCm39)	E114V	probably damaging	Het
Scamp5	A	T	9: 57,352,716 (GRCm39)	M151K	possibly damaging	Het
Sestd1	T	C	2: 77,048,512 (GRCm39)	Y135C	possibly damaging	Het
Slc22a21	T	G	11: 53,842,175 (GRCm39)	K534N	probably benign	Het
Slco3a1	A	G	7: 73,996,566 (GRCm39)	L280P	probably damaging	Het
Sppl2b	C	A	10: 80,701,879 (GRCm39)		probably null	Het
Srd5a2	T	C	17: 74,334,014 (GRCm39)	E135G	possibly damaging	Het
Tfg	A	T	16: 56,521,467 (GRCm39)	M183K	probably damaging	Het
Ticrr	G	A	7: 79,328,881 (GRCm39)	M673I	probably benign	Het
Tm4sf20	T	G	1: 82,745,958 (GRCm39)	M61L	probably benign	Het
Ttll8	A	T	15: 88,823,209 (GRCm39)	S85T	possibly damaging	Het
Uggt2	G	A	14: 119,280,138 (GRCm39)	S780F	probably damaging	Het
Uroc1	T	C	6: 90,324,302 (GRCm39)	L442P	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het
Znrf3	A	G	11: 5,239,006 (GRCm39)		probably benign	Het
Zswim2	C	A	2: 83,755,527 (GRCm39)	D125Y	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
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'- GTGGGGTCATCTAGCTTCTTCATTC -3'
(R):5'- CTGTCTTACACCGAGCGAAATG -3'

Sequencing Primer
(F):5'- AACACATGTATGCACAGTGTG -3'
(R):5'- CTTACACCGAGCGAAATGTGTGC -3'

Posted On

2017-01-03