Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01710:Slc25a17'

104757

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a17

Ensembl Gene

ENSMUSG00000022404

Gene Name

solute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17

Synonyms

PMP34, 34kDa

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

IGL01710

Quality Score

Status

Chromosome

Chromosomal Location

81203122-81244966 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 81211527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 163 (L163*)

Ref Sequence

ENSEMBL: ENSMUSP00000023040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023040] [ENSMUST00000231140]

AlphaFold

O70579

Predicted Effect

probably null
Transcript: ENSMUST00000023040
AA Change: L163*

SMART Domains

Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: L163*

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	6	97	1e-17	PFAM
Pfam:Mito_carr	97	197	6.3e-24	PFAM
Pfam:Mito_carr	199	297	3.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229617

Predicted Effect

probably benign
Transcript: ENSMUST00000231140

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 peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	A	18: 62,004,645 (GRCm39)	T48I	probably damaging	Het
Ccpg1	T	C	9: 72,904,723 (GRCm39)		probably benign	Het
Chkb	G	A	15: 89,310,843 (GRCm39)	Q379*	probably null	Het
Chst15	T	A	7: 131,872,236 (GRCm39)	D15V	probably benign	Het
Cntn4	G	A	6: 106,527,392 (GRCm39)	V425I	possibly damaging	Het
Cpa6	T	A	1: 10,395,497 (GRCm39)	N390I	probably damaging	Het
Efhd2	A	G	4: 141,587,872 (GRCm39)	F193S	probably damaging	Het
Ell3	T	C	2: 121,271,993 (GRCm39)	H128R	probably damaging	Het
Ercc5	T	G	1: 44,203,235 (GRCm39)	L291V	probably damaging	Het
Eva1c	A	G	16: 90,701,235 (GRCm39)	Y302C	probably damaging	Het
Fmo3	A	C	1: 162,810,612 (GRCm39)	L26R	probably damaging	Het
Galntl6	T	A	8: 58,989,002 (GRCm39)	D17V	probably damaging	Het
Gm6483	C	T	8: 19,741,629 (GRCm39)	P55S	probably damaging	Het
Gstt2	A	G	10: 75,669,579 (GRCm39)		probably benign	Het
Hmcn2	T	A	2: 31,233,114 (GRCm39)	L221Q	probably damaging	Het
Hoxa3	T	C	6: 52,147,554 (GRCm39)		probably benign	Het
Kctd12b	T	C	X: 152,472,479 (GRCm39)	D70G	probably damaging	Het
Kdm7a	T	A	6: 39,152,320 (GRCm39)	E125D	probably benign	Het
Klk1b21	T	A	7: 43,755,919 (GRCm39)	F249L	probably benign	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Nomo1	T	A	7: 45,687,980 (GRCm39)	L82Q	probably damaging	Het
Or5p58	G	T	7: 107,694,449 (GRCm39)	F109L	probably benign	Het
Papolg	A	T	11: 23,814,026 (GRCm39)	S718T	probably damaging	Het
Pex6	A	G	17: 47,036,252 (GRCm39)		probably benign	Het
Pi4k2a	T	A	19: 42,093,418 (GRCm39)	L253Q	probably damaging	Het
Prdx6b	T	A	2: 80,123,490 (GRCm39)	F100I	probably damaging	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Ptgfrn	T	C	3: 100,980,404 (GRCm39)	E312G	probably damaging	Het
Rasgrf1	A	G	9: 89,873,745 (GRCm39)	I685V	probably benign	Het
Setdb1	T	C	3: 95,246,164 (GRCm39)	E586G	probably damaging	Het
Sez6l2	C	A	7: 126,567,388 (GRCm39)	T841K	probably damaging	Het
Slc35f3	A	T	8: 127,115,900 (GRCm39)	I276F	probably benign	Het
Tcerg1l	T	A	7: 137,996,789 (GRCm39)	K149N	possibly damaging	Het
Tex28	T	A	X: 73,195,939 (GRCm39)	K278*	probably null	Het
Tmprss9	A	G	10: 80,733,793 (GRCm39)		probably benign	Het
Tnfaip8l1	A	G	17: 56,478,782 (GRCm39)	K24R	probably benign	Het
Trim36	T	C	18: 46,321,455 (GRCm39)		probably benign	Het
Uba1	C	T	X: 20,537,604 (GRCm39)	T274I	possibly damaging	Het
Ubr2	T	C	17: 47,254,335 (GRCm39)	T1439A	probably benign	Het
Ubr4	A	G	4: 139,145,772 (GRCm39)	D1523G	possibly damaging	Het
Uchl4	A	T	9: 64,142,788 (GRCm39)	T90S	probably benign	Het

Other mutations in Slc25a17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02655:Slc25a17	APN	15	81,207,844 (GRCm39)	missense	probably benign	0.02
IGL03258:Slc25a17	APN	15	81,213,243 (GRCm39)	splice site	probably benign
Acquisitive	UTSW	15	81,211,485 (GRCm39)	missense	probably benign	0.01
big_guy	UTSW	15	81,244,975 (GRCm39)	utr 5 prime	probably benign
grubbing	UTSW	15	81,213,346 (GRCm39)	missense	probably damaging	1.00
R0114:Slc25a17	UTSW	15	81,222,160 (GRCm39)	missense	probably damaging	1.00
R0763:Slc25a17	UTSW	15	81,207,907 (GRCm39)	splice site	probably benign
R1628:Slc25a17	UTSW	15	81,244,925 (GRCm39)	missense	possibly damaging	0.92
R2179:Slc25a17	UTSW	15	81,222,151 (GRCm39)	missense	probably benign	0.02
R3420:Slc25a17	UTSW	15	81,244,901 (GRCm39)	missense	probably benign	0.04
R3421:Slc25a17	UTSW	15	81,244,901 (GRCm39)	missense	probably benign	0.04
R3687:Slc25a17	UTSW	15	81,211,485 (GRCm39)	missense	probably benign	0.01
R3688:Slc25a17	UTSW	15	81,211,485 (GRCm39)	missense	probably benign	0.01
R4707:Slc25a17	UTSW	15	81,211,527 (GRCm39)	missense	probably damaging	0.97
R5617:Slc25a17	UTSW	15	81,244,975 (GRCm39)	utr 5 prime	probably benign
R5650:Slc25a17	UTSW	15	81,213,377 (GRCm39)	splice site	probably null
R5817:Slc25a17	UTSW	15	81,211,261 (GRCm39)	missense	probably damaging	0.97
R6207:Slc25a17	UTSW	15	81,213,265 (GRCm39)	missense	probably damaging	1.00
R6727:Slc25a17	UTSW	15	81,222,154 (GRCm39)	missense	probably benign	0.05
R7331:Slc25a17	UTSW	15	81,213,346 (GRCm39)	missense	probably damaging	1.00
R8101:Slc25a17	UTSW	15	81,222,248 (GRCm39)	missense	probably damaging	1.00
R9276:Slc25a17	UTSW	15	81,207,814 (GRCm39)	missense	probably benign	0.37
R9703:Slc25a17	UTSW	15	81,224,193 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-01-21