Mutagenetix > Incidental Mutation

Incidental Mutation 'R7794:Slc25a12'

600100

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

045850-MU

Accession Numbers

Essential gene?

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

Stock #

R7794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71104614-71198125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71141852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 267 (E267G)

Ref Sequence

ENSEMBL: ENSMUSP00000122103 (fasta)

Gene Model

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

AlphaFold

Q8BH59

Predicted Effect

probably damaging
Transcript: ENSMUST00000151937
AA Change: E267G

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

SMART Domains

Protein: ENSMUSP00000122103
Gene: ENSMUSG00000027010
AA Change: E267G

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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
Abcb11	A	T	2: 69,117,022 (GRCm39)	M542K	possibly damaging	Het
Abcc3	T	A	11: 94,249,697 (GRCm39)	I1083F	probably benign	Het
Acsm5	A	G	7: 119,137,352 (GRCm39)		probably benign	Het
Acyp1	G	T	12: 85,335,053 (GRCm39)	A22E	probably benign	Het
Afdn	C	A	17: 14,102,695 (GRCm39)	A1090E	probably damaging	Het
Ahdc1	T	G	4: 132,791,289 (GRCm39)	D843E	possibly damaging	Het
Bahcc1	G	T	11: 120,163,507 (GRCm39)	E602*	probably null	Het
Bora	A	G	14: 99,310,080 (GRCm39)	T470A	possibly damaging	Het
Bzw1	T	A	1: 58,439,959 (GRCm39)	S166T	probably benign	Het
Car13	A	G	3: 14,719,948 (GRCm39)	H120R	probably damaging	Het
Cstf3	G	A	2: 104,420,926 (GRCm39)	⇒1	probably benign	Het
Dip2a	T	C	10: 76,112,459 (GRCm39)	N1080D	probably damaging	Het
Dis3	A	G	14: 99,336,233 (GRCm39)	L91P	probably benign	Het
E2f6	A	G	12: 16,870,370 (GRCm39)	D174G	possibly damaging	Het
Emsy	A	T	7: 98,249,931 (GRCm39)	S785R	probably benign	Het
Fbxl17	A	G	17: 63,663,806 (GRCm39)	I561T	probably damaging	Het
Gabra6	A	T	11: 42,211,868 (GRCm39)		probably null	Het
Gm47996	C	G	1: 151,086,545 (GRCm39)	P209A	possibly damaging	Het
Hcls1	A	G	16: 36,782,426 (GRCm39)	E365G	probably damaging	Het
Hoxa6	T	A	6: 52,183,548 (GRCm39)	T166S	possibly damaging	Het
Hydin	A	G	8: 111,235,715 (GRCm39)	Y1900C	probably damaging	Het
I0C0044D17Rik	T	C	4: 98,708,582 (GRCm39)		probably benign	Het
Ifitm7	T	C	16: 13,801,610 (GRCm39)	T50A	probably benign	Het
Igkv10-95	A	G	6: 68,657,811 (GRCm39)	Q109R	possibly damaging	Het
Il1rap	A	T	16: 26,541,658 (GRCm39)	H633L	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kmt2e	G	A	5: 23,669,714 (GRCm39)	G67D	probably damaging	Het
Kpna6	T	C	4: 129,541,844 (GRCm39)	T518A	probably benign	Het
Marchf11	A	G	15: 26,409,284 (GRCm39)	I328V	probably benign	Het
Mbtps1	A	G	8: 120,265,623 (GRCm39)	I308T	probably damaging	Het
Mug1	A	T	6: 121,833,247 (GRCm39)	D284V	possibly damaging	Het
Myo16	A	G	8: 10,619,913 (GRCm39)	K1488R	unknown	Het
Myom2	G	A	8: 15,133,259 (GRCm39)	G384R	probably damaging	Het
Naa16	A	G	14: 79,614,934 (GRCm39)	Y189H	probably damaging	Het
Nav3	G	A	10: 109,524,717 (GRCm39)	A2304V	probably benign	Het
Or12e10	T	A	2: 87,640,818 (GRCm39)	V218E	probably damaging	Het
Or14c46	T	A	7: 85,918,341 (GRCm39)	I219L	probably damaging	Het
Or14j5	A	T	17: 38,161,678 (GRCm39)	Q65L	probably benign	Het
Orc5	A	T	5: 22,738,782 (GRCm39)	Y160N	possibly damaging	Het
Pan2	T	C	10: 128,152,396 (GRCm39)		probably null	Het
Pcdhb20	A	G	18: 37,637,485 (GRCm39)	R4G	probably benign	Het
Poc1b	A	G	10: 98,965,460 (GRCm39)	S130G	possibly damaging	Het
Psme2b	A	G	11: 48,836,683 (GRCm39)	V88A	probably benign	Het
Ptpn13	C	T	5: 103,640,090 (GRCm39)	T183M	probably benign	Het
Ptpn4	T	C	1: 119,653,767 (GRCm39)	E275G	probably damaging	Het
Rab21	A	T	10: 115,134,762 (GRCm39)	L119*	probably null	Het
Rep15	T	A	6: 146,934,638 (GRCm39)	I159N	probably damaging	Het
Rps6kc1	T	C	1: 190,515,825 (GRCm39)	E967G	probably benign	Het
Rptn	G	A	3: 93,303,036 (GRCm39)	R123K	probably benign	Het
Scn11a	A	T	9: 119,594,580 (GRCm39)	V1271D	probably damaging	Het
Scn5a	A	T	9: 119,358,153 (GRCm39)	I696N	probably damaging	Het
Slc5a4b	A	T	10: 75,898,133 (GRCm39)	M527K	probably benign	Het
Spata31e4	C	G	13: 50,856,344 (GRCm39)	P661A	probably damaging	Het
Speg	T	A	1: 75,365,514 (GRCm39)	S632T	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Synrg	G	T	11: 83,910,400 (GRCm39)	M933I	probably benign	Het
Tmem178b	A	T	6: 40,222,551 (GRCm39)	I89F	probably damaging	Het
Tyr	C	T	7: 87,133,028 (GRCm39)		probably null	Het
Usp30	T	A	5: 114,251,033 (GRCm39)	C237*	probably null	Het
Xpo6	G	T	7: 125,760,035 (GRCm39)	T188K	probably damaging	Het
Zfp382	G	A	7: 29,831,035 (GRCm39)	S108N	possibly damaging	Het
Zfp820	A	C	17: 22,039,109 (GRCm39)	V73G	probably 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
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
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'- AGAGACTTGATGTGCCAGGG -3'
(R):5'- GCAGTTATAGGCTGGATCTGAGC -3'

Sequencing Primer
(F):5'- GAAGCCTCCCCTTCTCAGAG -3'
(R):5'- CAGATTTCTGAGTTCAAGGCCAGC -3'

Posted On

2019-11-26