Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01545:Slc25a47'

90280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a47

Ensembl Gene

ENSMUSG00000048856

Gene Name

solute carrier family 25, member 47

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01545

Quality Score

Status

Chromosome

Chromosomal Location

108815740-108822741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108820142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 49 (V49L)

Ref Sequence

ENSEMBL: ENSMUSP00000152260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057026] [ENSMUST00000221080]

AlphaFold

Q6IS41

Predicted Effect

probably benign
Transcript: ENSMUST00000057026
AA Change: V49L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000050329
Gene: ENSMUSG00000048856
AA Change: V49L

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	84	1.2e-19	PFAM
Pfam:Mito_carr	94	212	1.5e-19	PFAM
Pfam:Mito_carr	215	308	6.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221080
AA Change: V49L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223296

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	G	A	11: 30,376,228 (GRCm39)	S213L	probably benign	Het
Adgrv1	A	G	13: 81,614,303 (GRCm39)	I4030T	possibly damaging	Het
Ap4b1	G	A	3: 103,720,143 (GRCm39)	R55H	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Atp6v1h	T	A	1: 5,159,282 (GRCm39)	M55K	probably benign	Het
B3galt4	A	C	17: 34,170,187 (GRCm39)	V17G	probably benign	Het
Cd79a	A	T	7: 24,600,691 (GRCm39)	M172L	probably benign	Het
Cry1	A	T	10: 85,020,226 (GRCm39)	L37H	possibly damaging	Het
D5Ertd615e	A	T	5: 45,326,755 (GRCm39)		noncoding transcript	Het
Dnah17	A	T	11: 118,010,394 (GRCm39)	L308Q	probably damaging	Het
Dnah7a	C	T	1: 53,557,941 (GRCm39)	A2158T	probably benign	Het
Dusp2	A	G	2: 127,179,695 (GRCm39)	T313A	probably benign	Het
Fam110c	T	C	12: 31,124,982 (GRCm39)	S315P	probably damaging	Het
Fcer2a	G	A	8: 3,733,598 (GRCm39)	R198*	probably null	Het
Fryl	G	A	5: 73,211,940 (GRCm39)	T2359M	probably damaging	Het
Gm14221	G	A	2: 160,410,303 (GRCm39)		noncoding transcript	Het
Gpc6	T	G	14: 118,202,242 (GRCm39)	L484R	probably damaging	Het
Igdcc3	G	A	9: 65,087,355 (GRCm39)	V298M	probably damaging	Het
Impg2	T	A	16: 56,046,080 (GRCm39)		probably benign	Het
Iqca1	T	A	1: 89,973,364 (GRCm39)	M803L	probably benign	Het
Itga4	T	C	2: 79,146,314 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,352,143 (GRCm39)		probably null	Het
Kidins220	T	C	12: 25,090,459 (GRCm39)	F1141S	possibly damaging	Het
Kif7	A	G	7: 79,352,026 (GRCm39)	I912T	probably damaging	Het
Klhl38	G	A	15: 58,185,854 (GRCm39)	R292W	probably damaging	Het
Lama3	A	G	18: 12,574,188 (GRCm39)	D590G	probably benign	Het
Map4k4	T	C	1: 40,053,389 (GRCm39)		probably benign	Het
Mbd4	A	T	6: 115,827,758 (GRCm39)	D39E	probably damaging	Het
Mrm2	A	G	5: 140,317,010 (GRCm39)	V8A	probably benign	Het
Myod1	A	T	7: 46,026,539 (GRCm39)	E148V	probably damaging	Het
Or5d47	A	C	2: 87,804,895 (GRCm39)	I38S	probably benign	Het
Pdcd10	A	T	3: 75,448,475 (GRCm39)	F30I	possibly damaging	Het
Ptcd1	T	A	5: 145,096,346 (GRCm39)	H249L	probably damaging	Het
Ptcd3	A	T	6: 71,865,561 (GRCm39)	D451E	probably benign	Het
Rab44	C	A	17: 29,366,351 (GRCm39)	S680R	unknown	Het
Rad21l	A	T	2: 151,497,084 (GRCm39)	D340E	probably benign	Het
Ranbp2	T	C	10: 58,314,703 (GRCm39)	F1808L	possibly damaging	Het
Rnf122	T	C	8: 31,618,630 (GRCm39)	V126A	probably damaging	Het
Slc36a2	T	C	11: 55,075,633 (GRCm39)		probably null	Het
Sorl1	G	A	9: 41,955,252 (GRCm39)	R668W	probably damaging	Het
Tbx19	T	A	1: 164,966,725 (GRCm39)	N383I	possibly damaging	Het
Tenm4	A	G	7: 96,523,510 (GRCm39)	H1676R	probably benign	Het
Tgm5	G	T	2: 120,883,289 (GRCm39)	R351S	probably damaging	Het
Tmem106b	A	G	6: 13,071,842 (GRCm39)	S34G	probably benign	Het
Trmo	C	T	4: 46,386,169 (GRCm39)	G119R	probably damaging	Het
Ubr4	G	A	4: 139,170,140 (GRCm39)		probably benign	Het
Wfdc11	A	G	2: 164,507,365 (GRCm39)		probably null	Het
Xrn2	T	A	2: 146,880,099 (GRCm39)	I474K	probably benign	Het
Zfp827	A	G	8: 79,797,063 (GRCm39)	K383R	probably damaging	Het

Other mutations in Slc25a47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Slc25a47	APN	12	108,821,314 (GRCm39)	missense	probably benign	0.00
IGL01138:Slc25a47	APN	12	108,821,948 (GRCm39)	missense	probably damaging	1.00
IGL01978:Slc25a47	APN	12	108,817,116 (GRCm39)	missense	probably damaging	0.96
R0592:Slc25a47	UTSW	12	108,820,184 (GRCm39)	missense	probably damaging	0.98
R4783:Slc25a47	UTSW	12	108,821,260 (GRCm39)	missense	probably damaging	1.00
R5549:Slc25a47	UTSW	12	108,822,143 (GRCm39)	makesense	probably null
R6085:Slc25a47	UTSW	12	108,820,254 (GRCm39)	missense	probably benign	0.19
R6378:Slc25a47	UTSW	12	108,822,069 (GRCm39)	missense	probably damaging	1.00
R6612:Slc25a47	UTSW	12	108,821,904 (GRCm39)	missense	probably benign	0.02
R7237:Slc25a47	UTSW	12	108,821,386 (GRCm39)	missense	probably damaging	1.00
R8304:Slc25a47	UTSW	12	108,821,868 (GRCm39)	missense	possibly damaging	0.61
R8711:Slc25a47	UTSW	12	108,820,313 (GRCm39)	missense	probably damaging	0.99
R8734:Slc25a47	UTSW	12	108,820,247 (GRCm39)	missense	probably benign
R9263:Slc25a47	UTSW	12	108,820,215 (GRCm39)	missense	probably benign	0.23

Posted On

2013-12-03