Mutagenetix > Incidental Mutation

Incidental Mutation 'R2027:Slc25a13'

220776

Institutional Source

Beutler Lab

Gene Symbol

Slc25a13

Ensembl Gene

ENSMUSG00000015112

Gene Name

solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13

Synonyms

Ctrn, citrin

MMRRC Submission

040035-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.359) question?

Stock #

R2027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6041218-6217173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6073487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 457 (L457S)

Ref Sequence

ENSEMBL: ENSMUSP00000139571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015256] [ENSMUST00000188414]

AlphaFold

Q9QXX4

Predicted Effect

probably damaging
Transcript: ENSMUST00000015256
AA Change: L457S

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

SMART Domains

Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: L457S

Domain	Start	End	E-Value	Type
EFh	57	85	5.75e1	SMART
EFh	91	119	6.14e-1	SMART
EFh	162	190	7.87e1	SMART
Pfam:Mito_carr	327	424	5.2e-27	PFAM
Pfam:Mito_carr	425	516	1.2e-17	PFAM
Pfam:Mito_carr	517	612	1.3e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188414
AA Change: L457S

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

SMART Domains

Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: L457S

Domain	Start	End	E-Value	Type
EFh	57	85	5.75e1	SMART
EFh	91	119	6.14e-1	SMART
EFh	162	190	7.87e1	SMART
Pfam:Mito_carr	327	424	2.6e-26	PFAM
Pfam:Mito_carr	425	516	4.4e-19	PFAM
Pfam:Mito_carr	517	612	1.4e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203551

Meta Mutation Damage Score

0.9154

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene appear normal, healthy and fertile, although they have a number of metabolic defects, but the spontaneous hyperspin deletion spanning from intron 3 to exon 17 also eliminates a modifier of Dlx5 causing a recessive vestibular and mortality phenotype [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,502,254 (GRCm39)	V138A	possibly damaging	Het
Aatk	A	G	11: 119,900,143 (GRCm39)	S1291P	probably damaging	Het
Adgrv1	C	T	13: 81,743,301 (GRCm39)	V67M	probably damaging	Het
Apoa4	G	A	9: 46,154,298 (GRCm39)	V300M	probably damaging	Het
Bcl2a1d	A	T	9: 88,613,438 (GRCm39)	V112E	possibly damaging	Het
Bltp1	T	A	3: 37,102,110 (GRCm39)		probably benign	Het
Cabp2	T	A	19: 4,137,126 (GRCm39)	M166K	probably damaging	Het
Camsap1	A	G	2: 25,828,538 (GRCm39)	V1062A	possibly damaging	Het
Cap1	T	G	4: 122,756,686 (GRCm39)		probably benign	Het
Caprin2	A	G	6: 148,779,385 (GRCm39)	Y141H	probably damaging	Het
Card11	T	C	5: 140,892,522 (GRCm39)	Y181C	probably damaging	Het
Ccdc107	T	C	4: 43,495,874 (GRCm39)	V259A	probably benign	Het
Ccn4	A	G	15: 66,789,258 (GRCm39)	E248G	possibly damaging	Het
Chd9	A	G	8: 91,634,619 (GRCm39)		probably benign	Het
Cibar1	T	A	4: 12,171,216 (GRCm39)	D79V	probably damaging	Het
Col12a1	T	C	9: 79,553,075 (GRCm39)		probably null	Het
Cuzd1	T	C	7: 130,921,820 (GRCm39)	T61A	possibly damaging	Het
Dbp	C	A	7: 45,357,700 (GRCm39)	D89E	probably benign	Het
Dhps	A	T	8: 85,799,240 (GRCm39)	N140Y	probably damaging	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dnah9	T	G	11: 65,846,164 (GRCm39)	N2958T	probably benign	Het
Dpp8	T	A	9: 64,986,056 (GRCm39)	Y849N	probably damaging	Het
Dsg2	A	G	18: 20,716,061 (GRCm39)		probably benign	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Faxc	T	C	4: 21,958,439 (GRCm39)		probably benign	Het
Frem3	G	T	8: 81,421,966 (GRCm39)	C2122F	possibly damaging	Het
Gan	T	C	8: 117,914,238 (GRCm39)		probably null	Het
Gnl1	A	G	17: 36,293,850 (GRCm39)	N274D	probably benign	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Itpr1	C	A	6: 108,363,814 (GRCm39)	S812Y	possibly damaging	Het
Kbtbd3	C	T	9: 4,317,075 (GRCm39)		probably benign	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msantd5f6	A	G	4: 73,321,295 (GRCm39)	I154T	possibly damaging	Het
Myh11	A	G	16: 14,050,532 (GRCm39)	Y478H	probably damaging	Het
Myo7b	A	G	18: 32,118,013 (GRCm39)	V871A	probably benign	Het
Nckap1	A	T	2: 80,365,862 (GRCm39)	M466K	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k6	A	G	14: 50,475,406 (GRCm39)	I312T	probably benign	Het
Or52r1b	A	T	7: 102,690,731 (GRCm39)	H15L	probably benign	Het
Or5aq1b	T	A	2: 86,901,897 (GRCm39)	N194Y	possibly damaging	Het
Or5m13	A	C	2: 85,749,114 (GRCm39)	S282R	probably damaging	Het
Or9k2	A	G	10: 129,998,604 (GRCm39)	I197T	probably benign	Het
Or9s23	A	T	1: 92,501,489 (GRCm39)	T199S	probably damaging	Het
Otof	T	C	5: 30,578,358 (GRCm39)	T97A	probably benign	Het
Peli2	G	A	14: 48,493,602 (GRCm39)	E275K	probably benign	Het
Pik3c2a	T	C	7: 115,950,057 (GRCm39)	Y1320C	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Pramel5	A	G	4: 143,998,274 (GRCm39)	L323P	probably damaging	Het
Prr5	A	T	15: 84,585,580 (GRCm39)	R183W	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rabgef1	A	G	5: 130,237,620 (GRCm39)	D231G	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rc3h1	C	T	1: 160,782,507 (GRCm39)	P662L	probably benign	Het
Rpl7a-ps5	G	T	17: 58,146,090 (GRCm39)	Q47K	probably benign	Het
Sclt1	G	A	3: 41,685,323 (GRCm39)	T45I	probably benign	Het
Slc22a17	A	G	14: 55,145,543 (GRCm39)	I202T	probably damaging	Het
Slc44a3	T	C	3: 121,257,059 (GRCm39)		probably benign	Het
Slc7a9	G	A	7: 35,153,562 (GRCm39)	V188M	probably damaging	Het
Spata31d1e	A	G	13: 59,890,401 (GRCm39)	M55T	possibly damaging	Het
Tmem161a	T	A	8: 70,630,170 (GRCm39)	F119I	probably damaging	Het
Tmem240	A	G	4: 155,819,892 (GRCm39)	D32G	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Uqcrc1	G	A	9: 108,776,083 (GRCm39)	V262M	probably benign	Het
Vmn1r87	G	A	7: 12,865,823 (GRCm39)	R155C	probably damaging	Het
Vmn2r100	A	T	17: 19,742,334 (GRCm39)	Q236L	probably benign	Het
Vmn2r97	T	A	17: 19,149,944 (GRCm39)	I444N	unknown	Het
Yif1a	A	T	19: 5,139,900 (GRCm39)	H115L	probably damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het

Other mutations in Slc25a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Slc25a13	APN	6	6,042,739 (GRCm39)	critical splice donor site	probably null
IGL02237:Slc25a13	APN	6	6,042,646 (GRCm39)	missense	probably damaging	1.00
IGL02285:Slc25a13	APN	6	6,042,643 (GRCm39)	missense	possibly damaging	0.95
IGL02287:Slc25a13	APN	6	6,216,992 (GRCm39)	splice site	probably benign
IGL02593:Slc25a13	APN	6	6,042,265 (GRCm39)	missense	probably benign	0.00
R0028:Slc25a13	UTSW	6	6,181,047 (GRCm39)	missense	probably benign	0.10
R0045:Slc25a13	UTSW	6	6,109,277 (GRCm39)	missense	probably benign	0.05
R0384:Slc25a13	UTSW	6	6,042,600 (GRCm39)	nonsense	probably null
R0711:Slc25a13	UTSW	6	6,117,128 (GRCm39)	missense	probably damaging	0.99
R1299:Slc25a13	UTSW	6	6,113,937 (GRCm39)	critical splice donor site	probably null
R1625:Slc25a13	UTSW	6	6,096,675 (GRCm39)	missense	probably damaging	1.00
R1701:Slc25a13	UTSW	6	6,152,525 (GRCm39)	critical splice acceptor site	probably null
R1792:Slc25a13	UTSW	6	6,115,104 (GRCm39)	missense	possibly damaging	0.79
R1932:Slc25a13	UTSW	6	6,042,264 (GRCm39)	missense	probably benign	0.33
R1933:Slc25a13	UTSW	6	6,109,262 (GRCm39)	missense	probably damaging	1.00
R1952:Slc25a13	UTSW	6	6,152,482 (GRCm39)	missense	probably damaging	1.00
R1969:Slc25a13	UTSW	6	6,096,668 (GRCm39)	critical splice donor site	probably null
R2074:Slc25a13	UTSW	6	6,114,017 (GRCm39)	missense	probably benign	0.21
R2432:Slc25a13	UTSW	6	6,114,017 (GRCm39)	missense	probably benign	0.21
R2508:Slc25a13	UTSW	6	6,117,190 (GRCm39)	missense	probably benign	0.06
R3774:Slc25a13	UTSW	6	6,109,288 (GRCm39)	missense	probably damaging	1.00
R3775:Slc25a13	UTSW	6	6,109,288 (GRCm39)	missense	probably damaging	1.00
R4804:Slc25a13	UTSW	6	6,109,213 (GRCm39)	missense	probably damaging	1.00
R4816:Slc25a13	UTSW	6	6,114,274 (GRCm39)	missense	possibly damaging	0.71
R4978:Slc25a13	UTSW	6	6,042,300 (GRCm39)	missense	probably damaging	0.97
R6529:Slc25a13	UTSW	6	6,073,451 (GRCm39)	missense	probably benign	0.39
R6615:Slc25a13	UTSW	6	6,073,454 (GRCm39)	missense	probably damaging	1.00
R6709:Slc25a13	UTSW	6	6,073,440 (GRCm39)	missense	possibly damaging	0.88
R7346:Slc25a13	UTSW	6	6,181,100 (GRCm39)	missense	possibly damaging	0.67
R7571:Slc25a13	UTSW	6	6,052,785 (GRCm39)	missense	probably damaging	1.00
R7807:Slc25a13	UTSW	6	6,117,164 (GRCm39)	missense	probably damaging	0.99
R7852:Slc25a13	UTSW	6	6,152,461 (GRCm39)	missense	probably damaging	0.96
R8460:Slc25a13	UTSW	6	6,073,513 (GRCm39)	missense	probably damaging	1.00
R8710:Slc25a13	UTSW	6	6,114,238 (GRCm39)	missense	probably benign	0.21
R9128:Slc25a13	UTSW	6	6,109,987 (GRCm39)	missense	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- GCAATTTGCTGGCAGATGG -3'
(R):5'- ACTGAGTTATCTGAGACCATCAATC -3'

Sequencing Primer
(F):5'- GTCTCCAAGTTGACATGATAGTGCC -3'
(R):5'- CAATCCATGGTGATGAATATCCC -3'

Posted On

2014-08-25