Mutagenetix > Incidental Mutation

Incidental Mutation 'R0285:Slc25a21'

24692

Institutional Source

Beutler Lab

Gene Symbol

Slc25a21

Ensembl Gene

ENSMUSG00000035472

Gene Name

solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21

Synonyms

9930033G19Rik

MMRRC Submission

038506-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

R0285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56712634-57197472 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 56858025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044634] [ENSMUST00000044634] [ENSMUST00000110680] [ENSMUST00000110680] [ENSMUST00000217690] [ENSMUST00000217690]

AlphaFold

Q8BZ09

Predicted Effect

probably null
Transcript: ENSMUST00000044634

SMART Domains

Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	10	104	2.3e-24	PFAM
Pfam:Mito_carr	107	200	1.3e-16	PFAM
Pfam:Mito_carr	202	298	3.4e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000044634

SMART Domains

Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	10	104	2.3e-24	PFAM
Pfam:Mito_carr	107	200	1.3e-16	PFAM
Pfam:Mito_carr	202	298	3.4e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110680

SMART Domains

Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	28	111	4.7e-21	PFAM
Pfam:Mito_carr	114	207	7.7e-17	PFAM
Pfam:Mito_carr	209	305	2e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110680

SMART Domains

Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	28	111	4.7e-21	PFAM
Pfam:Mito_carr	114	207	7.7e-17	PFAM
Pfam:Mito_carr	209	305	2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160892

Predicted Effect

probably null
Transcript: ENSMUST00000217690

Predicted Effect

probably null
Transcript: ENSMUST00000217690

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,533,865	G5S	probably damaging	Het
Acy3	A	G	19: 3,988,193	E162G	probably benign	Het
Angptl1	T	C	1: 156,845,215	S204P	probably benign	Het
Atf6b	C	T	17: 34,650,396		probably benign	Het
Card11	G	A	5: 140,887,101	S619F	probably damaging	Het
Ccl11	G	A	11: 82,062,258	V81I	probably damaging	Het
Cds1	T	C	5: 101,797,038	I126T	probably damaging	Het
Chd1	A	G	17: 17,374,680		probably benign	Het
Cndp1	C	A	18: 84,618,238	V384F	possibly damaging	Het
Cuta	A	G	17: 26,939,449		probably null	Het
Diaph3	G	A	14: 87,115,024	T47I	possibly damaging	Het
Dopey1	A	T	9: 86,512,639	S598C	probably damaging	Het
Dsp	A	G	13: 38,172,794	M217V	probably benign	Het
Esyt1	T	A	10: 128,512,218	I898F	possibly damaging	Het
Fam189a2	G	A	19: 23,979,385		probably benign	Het
Fam205a1	G	A	4: 42,850,236	T640M	probably benign	Het
Fam84b	T	C	15: 60,822,967	H310R	probably benign	Het
Fgd3	A	T	13: 49,263,948	W680R	possibly damaging	Het
Folh1	A	G	7: 86,742,165		probably benign	Het
Fuk	G	C	8: 110,893,717	H235Q	probably benign	Het
Gadl1	C	A	9: 116,030,738		probably benign	Het
Garem1	A	G	18: 21,129,612	M715T	probably benign	Het
Gpd2	A	T	2: 57,338,955	D257V	probably benign	Het
Hdac7	A	G	15: 97,798,222		probably null	Het
Heatr5b	A	G	17: 78,808,453	M858T	probably benign	Het
Inpp4b	A	T	8: 82,034,516		probably benign	Het
Iqgap3	G	T	3: 88,096,990	C461F	probably benign	Het
Lamb1	C	A	12: 31,326,645	C559*	probably null	Het
Lrrc31	T	C	3: 30,684,948	N308S	probably benign	Het
Ly75	T	C	2: 60,318,319	Y1222C	probably damaging	Het
Map3k10	C	A	7: 27,673,900	R42L	probably benign	Het
Meioc	A	G	11: 102,672,191	T72A	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,925,668	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,806,559	D650E	probably benign	Het
Ncoa6	T	C	2: 155,415,701	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nol4l	G	A	2: 153,483,853		probably benign	Het
Notch1	T	G	2: 26,460,861	D2089A	possibly damaging	Het
Olfr1156	A	G	2: 87,950,131	I34T	probably damaging	Het
Olfr1419	A	G	19: 11,871,138	L26P	probably damaging	Het
Olfr1449	A	T	19: 12,935,172	M145L	probably benign	Het
Olfr155	G	A	4: 43,854,398	V30M	possibly damaging	Het
Olfr493	A	G	7: 108,346,499	S161P	probably benign	Het
Olfr649	A	T	7: 104,189,324	Y294*	probably null	Het
Olfr930	T	A	9: 38,930,774	I201N	possibly damaging	Het
Otof	C	T	5: 30,379,533		probably null	Het
Paox	T	C	7: 140,129,140	F324L	probably damaging	Het
Pycr1	A	T	11: 120,640,316	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,576,129	H627L	probably damaging	Het
Rab21	G	A	10: 115,290,863	S193L	probably benign	Het
Ralgds	T	G	2: 28,550,569		probably null	Het
Rbm42	A	G	7: 30,645,840	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,110,378	V262A	probably benign	Het
Rhobtb3	A	G	13: 75,877,509	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,601,389	A901T	probably damaging	Het
Ryr2	T	C	13: 11,716,977	D2359G	probably damaging	Het
Sgo2b	A	C	8: 63,928,789	Y336*	probably null	Het
Slc16a7	T	A	10: 125,294,631	I62L	probably benign	Het
Slc22a21	A	T	11: 53,959,196		probably benign	Het
Slc5a4b	T	C	10: 76,062,283	I532M	probably damaging	Het
Srrm4	C	A	5: 116,467,789		probably benign	Het
Stxbp1	C	A	2: 32,823,542	E27D	probably benign	Het
Sult2a5	T	A	7: 13,628,760	Y131N	probably damaging	Het
Svopl	T	C	6: 37,984,522	Q492R	probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Tmem87a	A	G	2: 120,394,424	S119P	probably benign	Het
Tmprss11c	A	G	5: 86,271,430	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,452,868	D346V	probably damaging	Het
Ubr4	A	C	4: 139,440,801	S2820R	probably damaging	Het
Usp4	T	C	9: 108,378,564	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603		probably null	Het
Vill	C	T	9: 119,070,827		probably benign	Het
Vmn1r13	C	A	6: 57,209,994	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,345,611	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,396,557	W797R	probably damaging	Het
Washc2	T	A	6: 116,221,839	D287E	probably damaging	Het
Xpc	G	A	6: 91,498,064	L660F	probably damaging	Het

Other mutations in Slc25a21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Slc25a21	APN	12	56718137	splice site	probably null
IGL00776:Slc25a21	APN	12	56770205	missense	probably benign	0.43
IGL00788:Slc25a21	APN	12	56713812	utr 3 prime	probably benign
IGL01396:Slc25a21	APN	12	57159189	missense	probably benign
IGL01656:Slc25a21	APN	12	56738495	missense	probably damaging	1.00
IGL03095:Slc25a21	APN	12	56738625	missense	probably benign	0.09
R1238:Slc25a21	UTSW	12	56738487	missense	probably benign	0.00
R1509:Slc25a21	UTSW	12	56858079	missense	probably benign	0.00
R1803:Slc25a21	UTSW	12	56858087	missense	probably benign	0.01
R3862:Slc25a21	UTSW	12	56718135	splice site	probably benign
R4684:Slc25a21	UTSW	12	57196936	missense	probably benign	0.00
R4816:Slc25a21	UTSW	12	56713838	missense	probably damaging	1.00
R5718:Slc25a21	UTSW	12	56718156	missense	probably benign	0.00
R6265:Slc25a21	UTSW	12	57196900	missense	probably benign	0.33
R6953:Slc25a21	UTSW	12	57159169	missense	probably benign
R7337:Slc25a21	UTSW	12	56858043	missense	probably benign	0.03
R8980:Slc25a21	UTSW	12	56770164	missense	probably benign	0.00
U24488:Slc25a21	UTSW	12	56738497	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CCTGGAAGAAGGCTTCTACAGGACTAA -3'
(R):5'- GCTAAGAAACAGAAACCTGGGCTCTCAT -3'

Sequencing Primer
(F):5'- TTCTACAGGACTAAGAACAAGTCTGG -3'
(R):5'- CTGGGCTCTCATAAAGTACAAAC -3'

Posted On

2013-04-16