Mutagenetix > Incidental Mutation

Incidental Mutation 'R1952:Slc25a13'

217371

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

039966-MU

Accession Numbers

Essential gene?

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

Stock #

R1952 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6041218-6217173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6152482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 85 (L85P)

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: L85P

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

SMART Domains

Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: L85P

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

noncoding transcript
Transcript: ENSMUST00000177698

SMART Domains

Protein: ENSMUSP00000143688
Gene: ENSMUSG00000015112

Domain	Start	End	E-Value	Type
EFh	52	80	2.8e-1	SMART
EFh	86	114	3.1e-3	SMART
Pfam:Mito_carr	273	339	3.2e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188414
AA Change: L85P

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

SMART Domains

Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: L85P

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: ENSMUST00000203990

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	G	14: 32,110,293 (GRCm39)	V6A	possibly damaging	Het
Accsl	G	T	2: 93,689,778 (GRCm39)	H376Q	probably damaging	Het
Adgrg1	T	C	8: 95,735,119 (GRCm39)		probably null	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Ankrd12	T	C	17: 66,338,566 (GRCm39)	D128G	probably damaging	Het
Bcl2l14	A	G	6: 134,409,329 (GRCm39)	Y301C	probably damaging	Het
Camsap3	A	G	8: 3,654,789 (GRCm39)	T804A	probably damaging	Het
Capn11	A	T	17: 45,953,885 (GRCm39)	W154R	probably damaging	Het
Cd44	T	A	2: 102,683,432 (GRCm39)	T201S	probably damaging	Het
Cers4	G	A	8: 4,573,461 (GRCm39)	W319*	probably null	Het
Col27a1	T	A	4: 63,202,130 (GRCm39)		probably null	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dusp7	T	A	9: 106,248,028 (GRCm39)	C219S	probably benign	Het
Epha7	A	G	4: 28,950,474 (GRCm39)	N759S	probably damaging	Het
Fat1	T	C	8: 45,486,963 (GRCm39)	V3413A	probably benign	Het
Gls2	A	G	10: 128,045,231 (GRCm39)	H576R	probably benign	Het
Gm4884	G	A	7: 40,693,671 (GRCm39)	V547M	probably benign	Het
Hap1	A	G	11: 100,243,105 (GRCm39)	V174A	probably damaging	Het
Il12rb2	A	G	6: 67,269,300 (GRCm39)	S838P	probably damaging	Het
Ints8	T	C	4: 11,221,150 (GRCm39)	I742V	probably benign	Het
Katnal2	G	T	18: 77,067,707 (GRCm39)	S411R	probably benign	Het
Lrp1	A	C	10: 127,403,300 (GRCm39)	V2091G	probably damaging	Het
Mettl21c	A	T	1: 44,056,368 (GRCm39)	D20E	probably damaging	Het
Mib1	A	T	18: 10,812,077 (GRCm39)	E991D	possibly damaging	Het
Mip	T	C	10: 128,061,772 (GRCm39)	S8P	possibly damaging	Het
Mllt6	T	C	11: 97,568,048 (GRCm39)	S826P	probably damaging	Het
Mlst8	AT	ATT	17: 24,696,987 (GRCm39)		probably null	Het
Myrfl	C	T	10: 116,658,716 (GRCm39)	V414I	probably benign	Het
Nbeal1	T	C	1: 60,273,999 (GRCm39)	V409A	probably damaging	Het
Nin	T	A	12: 70,077,700 (GRCm39)	Q1035L	probably damaging	Het
Nlgn1	T	A	3: 25,490,464 (GRCm39)	D421V	probably damaging	Het
Nlrp10	A	G	7: 108,523,770 (GRCm39)	V570A	probably benign	Het
Olfm3	A	T	3: 114,895,589 (GRCm39)	E157V	probably null	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8g37	T	C	9: 39,731,363 (GRCm39)	S143P	probably benign	Het
Otud7a	A	G	7: 63,300,624 (GRCm39)	D21G	probably damaging	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pcf11	A	T	7: 92,310,546 (GRCm39)	S481T	probably damaging	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Prl3a1	G	A	13: 27,454,136 (GRCm39)	G38E	possibly damaging	Het
Psmb8	T	C	17: 34,419,884 (GRCm39)	V246A	probably damaging	Het
Ptpn12	A	T	5: 21,203,308 (GRCm39)	V490E	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Qars1	G	A	9: 108,390,380 (GRCm39)	R427H	probably benign	Het
R3hdml	T	C	2: 163,340,216 (GRCm39)	F128L	probably benign	Het
Rapgef4	A	G	2: 72,038,471 (GRCm39)	M541V	probably benign	Het
Rhbdf1	G	A	11: 32,164,277 (GRCm39)	R234*	probably null	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Satb1	A	T	17: 52,047,173 (GRCm39)	L683Q	probably damaging	Het
Satb2	T	C	1: 56,938,229 (GRCm39)	T132A	probably damaging	Het
Sbspon	A	G	1: 15,930,519 (GRCm39)	S156P	probably damaging	Het
Shb	A	T	4: 45,458,347 (GRCm39)		probably null	Het
She	A	G	3: 89,756,792 (GRCm39)	K282R	possibly damaging	Het
Slc7a13	A	T	4: 19,841,578 (GRCm39)	H475L	probably benign	Het
Sorl1	C	T	9: 41,957,920 (GRCm39)	V575I	probably benign	Het
Spag9	T	A	11: 93,988,184 (GRCm39)	C833S	possibly damaging	Het
Speer2	A	C	16: 69,654,052 (GRCm39)	N232K	probably damaging	Het
Syncrip	A	T	9: 88,358,927 (GRCm39)	M194K	probably damaging	Het
Sytl3	A	C	17: 6,995,732 (GRCm39)	T171P	probably damaging	Het
Taar7f	T	A	10: 23,925,747 (GRCm39)	Y114N	probably damaging	Het
Tamalin	T	C	15: 101,122,381 (GRCm39)	Y67H	probably benign	Het
Tap1	C	G	17: 34,412,481 (GRCm39)	P506R	probably damaging	Het
Tle6	T	C	10: 81,431,319 (GRCm39)	D212G	possibly damaging	Het
Trim80	G	T	11: 115,332,155 (GRCm39)	E116*	probably null	Het
Ttll4	A	G	1: 74,726,718 (GRCm39)	R745G	probably damaging	Het
Vdac2	A	T	14: 21,887,947 (GRCm39)	I85F	possibly damaging	Het
Vmn1r188	A	G	13: 22,272,309 (GRCm39)	R88G	probably damaging	Het
Washc2	T	C	6: 116,232,052 (GRCm39)	S821P	possibly damaging	Het
Wdhd1	T	C	14: 47,507,647 (GRCm39)	Y213C	probably damaging	Het
Wdr55	C	A	18: 36,893,437 (GRCm39)	P33Q	probably damaging	Het
Yrdc	C	T	4: 124,745,739 (GRCm39)	A32V	probably benign	Het
Zfp608	T	A	18: 55,030,851 (GRCm39)	K1030*	probably null	Het
Zfp618	T	A	4: 63,050,555 (GRCm39)		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
R1969:Slc25a13	UTSW	6	6,096,668 (GRCm39)	critical splice donor site	probably null
R2027:Slc25a13	UTSW	6	6,073,487 (GRCm39)	missense	probably damaging	1.00
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'- CCCTTGAGGTCTTCTATATGAGG -3'
(R):5'- AGCTGTGTGAAGTGGGAATC -3'

Sequencing Primer
(F):5'- TGTCCCTTAGAAGCCTGTTTG -3'
(R):5'- TGGGAATCCACGGTTCTACCAG -3'

Posted On

2014-08-01