Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02130:Slc25a16'

281012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a16

Ensembl Gene

ENSMUSG00000071253

Gene Name

solute carrier family 25 (mitochondrial carrier, Graves disease autoantigen), member 16

Synonyms

ML7, 3110021G18Rik, HGT.1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02130

Quality Score

Status

Chromosome

Chromosomal Location

62756454-62782278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62780137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 299 (I299V)

Ref Sequence

ENSEMBL: ENSMUSP00000114510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044977] [ENSMUST00000092462] [ENSMUST00000131422] [ENSMUST00000144459]

AlphaFold

Q8C0K5

Predicted Effect

probably benign
Transcript: ENSMUST00000044977
AA Change: I296V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000043370
Gene: ENSMUSG00000071253
AA Change: I296V

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:Mito_carr	32	125	1.7e-25	PFAM
Pfam:Mito_carr	127	220	2.3e-26	PFAM
Pfam:Mito_carr	237	332	8.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092462

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:Dna2	68	284	4.7e-75	PFAM
Pfam:PDDEXK_1	125	404	4.3e-13	PFAM
Pfam:AAA_11	626	799	6.7e-42	PFAM
Pfam:AAA_30	626	848	1.1e-15	PFAM
Pfam:AAA_19	633	709	5.7e-9	PFAM
Pfam:AAA_12	806	944	4.1e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129785

Predicted Effect

probably benign
Transcript: ENSMUST00000131422

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:Dna2	72	283	8.2e-65	PFAM
Pfam:PDDEXK_1	125	404	3e-11	PFAM
Pfam:AAA_11	626	732	7.8e-17	PFAM
Pfam:AAA_30	626	848	1.3e-15	PFAM
Pfam:AAA_19	633	709	6.2e-9	PFAM
Pfam:AAA_11	722	799	1.2e-21	PFAM
Pfam:AAA_12	806	1020	5.3e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131715

Predicted Effect

probably benign
Transcript: ENSMUST00000144459
AA Change: I299V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114510
Gene: ENSMUSG00000071253
AA Change: I299V

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:Mito_carr	32	125	9.4e-28	PFAM
Pfam:Mito_carr	126	223	4.6e-25	PFAM
Pfam:Mito_carr	240	322	2.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152350

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7l1	A	T	12: 33,392,141 (GRCm39)	K239M	probably damaging	Het
Cep164	T	C	9: 45,691,090 (GRCm39)	E1230G	possibly damaging	Het
Fas	A	G	19: 34,292,695 (GRCm39)	T101A	probably benign	Het
Fcnb	A	G	2: 27,974,801 (GRCm39)		probably null	Het
Gm14325	A	G	2: 177,476,445 (GRCm39)		probably benign	Het
Gm4877	A	T	6: 42,496,991 (GRCm39)		noncoding transcript	Het
Heyl	T	C	4: 123,140,064 (GRCm39)	S208P	probably benign	Het
Ighv10-3	A	T	12: 114,487,121 (GRCm39)	L100H	probably damaging	Het
Irs1	T	C	1: 82,267,188 (GRCm39)	S343G	probably damaging	Het
Lrriq4	T	A	3: 30,704,896 (GRCm39)	V293E	probably damaging	Het
Mbd3l1	A	T	9: 18,396,023 (GRCm39)	R49S	probably damaging	Het
Mdga1	A	G	17: 30,076,643 (GRCm39)	I43T	possibly damaging	Het
N4bp3	T	C	11: 51,534,773 (GRCm39)	E430G	possibly damaging	Het
Olfml3	A	G	3: 103,644,283 (GRCm39)	Y129H	probably benign	Het
Or4c125	C	A	2: 89,169,927 (GRCm39)	V240F	probably damaging	Het
Or8b12i	A	G	9: 20,082,654 (GRCm39)	I71T	probably damaging	Het
Prex2	T	C	1: 11,183,023 (GRCm39)	V424A	probably damaging	Het
Prex2	T	A	1: 11,230,386 (GRCm39)	V804E	probably damaging	Het
Rnf103	T	C	6: 71,486,548 (GRCm39)	L393S	probably damaging	Het
Rnf20	T	C	4: 49,644,481 (GRCm39)		probably benign	Het
Tmprss2	A	T	16: 97,392,089 (GRCm39)	C5S	probably damaging	Het
Trpv3	A	C	11: 73,170,596 (GRCm39)	M159L	probably benign	Het
Vmn2r45	A	T	7: 8,486,556 (GRCm39)	M244K	possibly damaging	Het

Other mutations in Slc25a16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Slc25a16	APN	10	62,780,212 (GRCm39)	splice site	probably null
IGL01963:Slc25a16	APN	10	62,766,220 (GRCm39)	splice site	probably null
R1503:Slc25a16	UTSW	10	62,764,155 (GRCm39)	missense	probably damaging	1.00
R1533:Slc25a16	UTSW	10	62,756,643 (GRCm39)	missense	probably damaging	0.97
R2067:Slc25a16	UTSW	10	62,768,530 (GRCm39)	missense	probably benign	0.25
R4388:Slc25a16	UTSW	10	62,764,105 (GRCm39)	missense	probably benign	0.18
R6225:Slc25a16	UTSW	10	62,764,102 (GRCm39)	missense	probably damaging	1.00
R6457:Slc25a16	UTSW	10	62,776,938 (GRCm39)	missense	probably benign	0.20
R6459:Slc25a16	UTSW	10	62,773,256 (GRCm39)	nonsense	probably null
R7009:Slc25a16	UTSW	10	62,773,233 (GRCm39)	missense	possibly damaging	0.95
R7814:Slc25a16	UTSW	10	62,773,199 (GRCm39)	missense	probably benign	0.00
R8792:Slc25a16	UTSW	10	62,764,119 (GRCm39)	nonsense	probably null

Posted On

2015-04-16