Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01396:Slc25a21'

79446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a21

Ensembl Gene

ENSMUSG00000035472

Gene Name

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

Synonyms

9930033G19Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

IGL01396

Quality Score

Status

Chromosome

Chromosomal Location

56759419-57244257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57205974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 19 (V19A)

Ref Sequence

ENSEMBL: ENSMUSP00000151751 (fasta)

Gene Model

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

AlphaFold

Q8BZ09

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000110680
AA Change: V19A

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

SMART Domains

Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472
AA Change: V19A

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 benign
Transcript: ENSMUST00000217690
AA Change: V19A

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

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,649 (GRCm39)	Y469N	probably benign	Het
Actl11	T	C	9: 107,805,964 (GRCm39)	S96P	possibly damaging	Het
Ankrd13b	T	A	11: 77,363,198 (GRCm39)		probably null	Het
Apobec4	T	A	1: 152,632,017 (GRCm39)	I15K	probably damaging	Het
Arhgef28	G	T	13: 98,090,401 (GRCm39)	D1039E	probably damaging	Het
Atp1a1	C	T	3: 101,498,769 (GRCm39)	G175R	probably damaging	Het
AU040320	T	A	4: 126,763,171 (GRCm39)		probably benign	Het
Bcl9l	G	A	9: 44,418,121 (GRCm39)	R653H	probably damaging	Het
Ccdc141	T	A	2: 76,958,669 (GRCm39)	I144L	possibly damaging	Het
Cdh20	C	T	1: 104,875,154 (GRCm39)	T312I	possibly damaging	Het
Cdh23	C	T	10: 60,220,848 (GRCm39)	V1297I	possibly damaging	Het
Cfap57	T	C	4: 118,467,792 (GRCm39)	Y315C	probably damaging	Het
Chd8	A	G	14: 52,442,044 (GRCm39)		probably benign	Het
Cog5	A	G	12: 31,944,095 (GRCm39)	D660G	probably benign	Het
Cps1	T	C	1: 67,196,945 (GRCm39)	I332T	probably damaging	Het
Csgalnact2	T	C	6: 118,103,288 (GRCm39)	T225A	probably damaging	Het
Dchs1	A	G	7: 105,421,490 (GRCm39)	L310P	probably damaging	Het
Dgki	T	C	6: 36,977,025 (GRCm39)	N695S	probably damaging	Het
Gas7	T	A	11: 67,543,740 (GRCm39)		probably null	Het
Gm21286	T	C	4: 60,794,323 (GRCm39)		noncoding transcript	Het
Gm4799	C	T	10: 82,790,518 (GRCm39)		noncoding transcript	Het
Hdac4	T	C	1: 91,887,196 (GRCm39)		probably benign	Het
Hif1a	T	A	12: 73,987,307 (GRCm39)	S467T	probably benign	Het
Ier5	A	G	1: 154,974,296 (GRCm39)	V294A	probably damaging	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Itga9	T	C	9: 118,436,191 (GRCm39)		probably benign	Het
Lbx1	G	T	19: 45,222,670 (GRCm39)	Q118K	probably benign	Het
Lta	A	T	17: 35,423,061 (GRCm39)		probably null	Het
Matr3	A	G	18: 35,721,442 (GRCm39)	Y471C	probably damaging	Het
Nrg2	A	T	18: 36,178,905 (GRCm39)		probably benign	Het
Or4c103	C	T	2: 88,513,575 (GRCm39)	C167Y	probably damaging	Het
Or4k51	T	C	2: 111,584,848 (GRCm39)	F85L	probably benign	Het
Or4k51	T	A	2: 111,584,948 (GRCm39)	M118K	probably damaging	Het
Or5l13	G	T	2: 87,780,207 (GRCm39)	F123L	probably damaging	Het
Patl1	A	G	19: 11,901,247 (GRCm39)	K299R	probably damaging	Het
Pdgfrb	A	G	18: 61,205,736 (GRCm39)	E574G	probably damaging	Het
Phf3	G	A	1: 30,843,386 (GRCm39)	Q1858*	probably null	Het
Prkca	T	C	11: 107,905,148 (GRCm39)	K197E	possibly damaging	Het
Psmc6	C	A	14: 45,581,124 (GRCm39)	Q307K	probably benign	Het
Rasa1	T	C	13: 85,406,561 (GRCm39)	I181V	probably benign	Het
Scel	A	G	14: 103,845,530 (GRCm39)		probably benign	Het
Scn5a	A	T	9: 119,363,770 (GRCm39)	S457T	probably damaging	Het
Sesn3	A	G	9: 14,232,374 (GRCm39)	T216A	probably benign	Het
Slc34a1	A	G	13: 55,550,546 (GRCm39)	T81A	probably damaging	Het
Slc35a5	A	G	16: 44,971,866 (GRCm39)	Y117H	probably damaging	Het
Sptbn4	A	G	7: 27,114,196 (GRCm39)	V569A	probably benign	Het
Sqle	A	G	15: 59,195,723 (GRCm39)	Y333C	probably damaging	Het
Svep1	T	C	4: 58,068,552 (GRCm39)	E3078G	possibly damaging	Het
Tacc2	T	A	7: 130,360,919 (GRCm39)	I2737N	probably damaging	Het
Tet3	A	T	6: 83,346,620 (GRCm39)	Y1272*	probably null	Het
Tnr	G	T	1: 159,724,594 (GRCm39)	R1095L	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,862 (GRCm39)	S203P	probably damaging	Het
Vmn2r94	A	G	17: 18,477,301 (GRCm39)	L370P	probably damaging	Het
Xrcc5	A	G	1: 72,393,404 (GRCm39)	H559R	probably benign	Het

Other mutations in Slc25a21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Slc25a21	APN	12	56,764,922 (GRCm39)	splice site	probably null
IGL00776:Slc25a21	APN	12	56,816,990 (GRCm39)	missense	probably benign	0.43
IGL00788:Slc25a21	APN	12	56,760,597 (GRCm39)	utr 3 prime	probably benign
IGL01656:Slc25a21	APN	12	56,785,280 (GRCm39)	missense	probably damaging	1.00
IGL03095:Slc25a21	APN	12	56,785,410 (GRCm39)	missense	probably benign	0.09
R0285:Slc25a21	UTSW	12	56,904,810 (GRCm39)	critical splice donor site	probably null
R1238:Slc25a21	UTSW	12	56,785,272 (GRCm39)	missense	probably benign	0.00
R1509:Slc25a21	UTSW	12	56,904,864 (GRCm39)	missense	probably benign	0.00
R1803:Slc25a21	UTSW	12	56,904,872 (GRCm39)	missense	probably benign	0.01
R3862:Slc25a21	UTSW	12	56,764,920 (GRCm39)	splice site	probably benign
R4684:Slc25a21	UTSW	12	57,243,721 (GRCm39)	missense	probably benign	0.00
R4816:Slc25a21	UTSW	12	56,760,623 (GRCm39)	missense	probably damaging	1.00
R5718:Slc25a21	UTSW	12	56,764,941 (GRCm39)	missense	probably benign	0.00
R6265:Slc25a21	UTSW	12	57,243,685 (GRCm39)	missense	probably benign	0.33
R6953:Slc25a21	UTSW	12	57,205,954 (GRCm39)	missense	probably benign
R7337:Slc25a21	UTSW	12	56,904,828 (GRCm39)	missense	probably benign	0.03
R8980:Slc25a21	UTSW	12	56,816,949 (GRCm39)	missense	probably benign	0.00
R9750:Slc25a21	UTSW	12	56,785,382 (GRCm39)	missense	probably benign	0.00
U24488:Slc25a21	UTSW	12	56,785,282 (GRCm39)	missense	possibly damaging	0.66

Posted On

2013-11-05