Mutagenetix > Incidental Mutation

Incidental Mutation 'R7270:Slc25a12'

565207

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

045390-MU

Accession Numbers

Essential gene?

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

Stock #

R7270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71104614-71198125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71154369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 139 (H139R)

Ref Sequence

ENSEMBL: ENSMUSP00000122103 (fasta)

Gene Model

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

AlphaFold

Q8BH59

Predicted Effect

probably benign
Transcript: ENSMUST00000151937
AA Change: H139R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122103
Gene: ENSMUSG00000027010
AA Change: H139R

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	A	T	10: 42,301,245 (GRCm39)	Y193N	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Aimp1	T	C	3: 132,382,772 (GRCm39)	K44E	probably damaging	Het
Arid1b	T	A	17: 5,046,318 (GRCm39)	Y369N	unknown	Het
Art5	A	T	7: 101,747,080 (GRCm39)	V233D	probably damaging	Het
Baz2b	T	A	2: 59,792,836 (GRCm39)	N431Y	possibly damaging	Het
Bik	T	A	15: 83,428,364 (GRCm39)	F131I	possibly damaging	Het
Bmpr1a	A	G	14: 34,163,082 (GRCm39)	Y103H	probably damaging	Het
Cabp7	C	T	11: 4,696,676 (GRCm39)	V18M	possibly damaging	Het
Cacna1a	C	A	8: 85,297,866 (GRCm39)	T1240N	probably damaging	Het
Cacna1h	A	G	17: 25,603,739 (GRCm39)	V1311A	probably damaging	Het
Cbarp	A	C	10: 79,973,151 (GRCm39)	S16A	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2b	A	T	8: 105,564,472 (GRCm39)	H494L	possibly damaging	Het
Cfap43	T	A	19: 47,728,224 (GRCm39)	H1511L	possibly damaging	Het
Cfap54	A	G	10: 92,675,320 (GRCm39)	V2867A	probably benign	Het
Col5a1	C	T	2: 27,887,597 (GRCm39)	P956L	unknown	Het
Dcakd	T	G	11: 102,891,032 (GRCm39)	Q19P	possibly damaging	Het
Ddx47	T	A	6: 135,000,301 (GRCm39)	D432E	probably benign	Het
Dhrs7b	T	C	11: 60,735,055 (GRCm39)	F29L	probably benign	Het
Dis3l2	A	T	1: 86,918,025 (GRCm39)	D558V	possibly damaging	Het
Dtx3l	T	A	16: 35,754,027 (GRCm39)	D193V	probably damaging	Het
Eif1ad12	T	C	12: 87,541,663 (GRCm39)	L58P	probably damaging	Het
Epha4	G	A	1: 77,376,422 (GRCm39)	R486C	probably damaging	Het
Fam186a	T	C	15: 99,842,033 (GRCm39)	T1404A	possibly damaging	Het
Fat1	A	G	8: 45,490,475 (GRCm39)	T3796A	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Ftmt	A	G	18: 52,465,091 (GRCm39)	I136V	probably benign	Het
Gm10300	T	C	4: 131,802,167 (GRCm39)	W54R	unknown	Het
Gm10518	C	T	1: 179,630,949 (GRCm39)	P3L	unknown	Het
Grm2	G	A	9: 106,528,257 (GRCm39)	T209M	probably damaging	Het
Gtdc1	C	T	2: 44,525,322 (GRCm39)	M176I	probably benign	Het
Insrr	T	C	3: 87,710,440 (GRCm39)	L382P	probably damaging	Het
Jade2	A	G	11: 51,708,011 (GRCm39)	V734A	possibly damaging	Het
Kcnh4	C	T	11: 100,638,472 (GRCm39)	R586H	probably benign	Het
Kdm1a	A	T	4: 136,279,838 (GRCm39)	D721E	probably damaging	Het
Knl1	G	A	2: 118,933,003 (GRCm39)	C2054Y	possibly damaging	Het
Lrrk2	C	T	15: 91,584,644 (GRCm39)	P354S	probably benign	Het
Luzp2	A	G	7: 54,724,774 (GRCm39)	I112V	probably damaging	Het
Mgl2	T	C	11: 70,026,506 (GRCm39)	S105P	probably damaging	Het
Mocs1	T	A	17: 49,756,143 (GRCm39)	M200K	possibly damaging	Het
Oat	T	A	7: 132,168,927 (GRCm39)	I98L	probably benign	Het
Obscn	T	C	11: 58,920,312 (GRCm39)	Y8C		Het
Or5b108	G	A	19: 13,168,768 (GRCm39)	V246I	possibly damaging	Het
Or6c1b	T	G	10: 129,273,319 (GRCm39)	F213V	probably benign	Het
Pde1b	T	A	15: 103,430,082 (GRCm39)	M137K	possibly damaging	Het
Phf21a	T	C	2: 92,157,484 (GRCm39)	I204T	probably damaging	Het
Plcd4	A	G	1: 74,593,838 (GRCm39)	E321G	possibly damaging	Het
Plpp7	C	T	2: 31,985,662 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,566 (GRCm39)	I419T	probably benign	Het
Sec16b	A	T	1: 157,392,032 (GRCm39)	R855W	probably damaging	Het
Sec16b	G	T	1: 157,392,033 (GRCm39)	R855M	probably damaging	Het
Sec31b	T	C	19: 44,511,482 (GRCm39)	T640A	probably benign	Het
Siglec1	T	C	2: 130,923,471 (GRCm39)	T425A	possibly damaging	Het
Sirpd	A	T	3: 15,385,704 (GRCm39)	I66N	probably benign	Het
Skil	T	C	3: 31,151,324 (GRCm39)		probably benign	Het
Slc1a5	G	A	7: 16,519,623 (GRCm39)	V200M	probably damaging	Het
Slc25a32	A	T	15: 38,961,630 (GRCm39)	V187D	probably damaging	Het
Slc35a3	G	A	3: 116,505,455 (GRCm39)		probably benign	Het
Smap2	C	A	4: 120,829,264 (GRCm39)	M328I	probably benign	Het
Spef2	C	T	15: 9,600,066 (GRCm39)		probably null	Het
Srarp	A	G	4: 141,160,389 (GRCm39)	V148A	possibly damaging	Het
Stard9	T	A	2: 120,464,755 (GRCm39)	Y73*	probably null	Het
Tars1	A	G	15: 11,392,105 (GRCm39)	C236R	probably benign	Het
Tchh	G	C	3: 93,351,837 (GRCm39)	D426H	unknown	Het
Tnks2	T	C	19: 36,836,545 (GRCm39)	F17S		Het
Ube2g1	T	C	11: 72,553,939 (GRCm39)	I30T	possibly damaging	Het
Ube2o	C	T	11: 116,434,761 (GRCm39)	D567N	possibly damaging	Het
Unc5b	A	T	10: 60,608,002 (GRCm39)	Y710*	probably null	Het
Vmn1r215	T	C	13: 23,260,089 (GRCm39)	V43A	possibly damaging	Het
Xkr8	A	G	4: 132,455,648 (GRCm39)	F242L	probably benign	Het
Zfp526	T	A	7: 24,925,345 (GRCm39)	C535S	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
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'- GACTACTTACATGAATGCACGTACAGG -3'
(R):5'- TAGAAGCAGCCGGTCTTGAC -3'

Sequencing Primer
(F):5'- TGCACGTACAGGCTGAAAG -3'
(R):5'- AGCAGCCGGTCTTGACTTTTTAAAC -3'

Posted On

2019-06-26