Mutagenetix > Incidental Mutation

Incidental Mutation 'R2179:Slc25a17'

237081

Institutional Source

Beutler Lab

Gene Symbol

Slc25a17

Ensembl Gene

ENSMUSG00000022404

Gene Name

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

Synonyms

PMP34, 34kDa

MMRRC Submission

040181-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R2179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81203122-81244966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81222151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 107 (V107A)

Ref Sequence

ENSEMBL: ENSMUSP00000155823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023040] [ENSMUST00000230309] [ENSMUST00000231140]

AlphaFold

O70579

Predicted Effect

probably benign
Transcript: ENSMUST00000023040
AA Change: V107A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: V107A

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: ENSMUST00000229617

Predicted Effect

probably benign
Transcript: ENSMUST00000230309

Predicted Effect

probably benign
Transcript: ENSMUST00000230983

Predicted Effect

probably benign
Transcript: ENSMUST00000231140
AA Change: V107A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,271,018 (GRCm39)	D849G	possibly damaging	Het
Amz2	A	G	11: 109,320,658 (GRCm39)	H155R	probably damaging	Het
Cfhr4	G	T	1: 139,659,279 (GRCm39)	P679Q	probably damaging	Het
Chuk	C	A	19: 44,092,160 (GRCm39)	C46F	possibly damaging	Het
Cp	A	T	3: 20,042,151 (GRCm39)	D973V	probably damaging	Het
Cpm	T	A	10: 117,519,266 (GRCm39)	D391E	probably benign	Het
Creb3	T	C	4: 43,566,306 (GRCm39)	S271P	probably damaging	Het
Cubn	T	A	2: 13,323,053 (GRCm39)	H2838L	possibly damaging	Het
Dennd2d	A	G	3: 106,399,776 (GRCm39)	H233R	probably benign	Het
Dnaaf2	C	A	12: 69,245,071 (GRCm39)		probably benign	Het
Enpp3	T	A	10: 24,681,793 (GRCm39)	Q304H	probably benign	Het
Fermt3	C	A	19: 6,991,782 (GRCm39)	R143L	probably benign	Het
Fndc8	A	C	11: 82,789,580 (GRCm39)	K246T	probably damaging	Het
Gaa	A	G	11: 119,165,884 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,119,404 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,653,698 (GRCm39)	T79A	probably damaging	Het
Ikbkb	C	T	8: 23,171,769 (GRCm39)		probably null	Het
Il16	A	T	7: 83,337,287 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,267,940 (GRCm39)	H92L	possibly damaging	Het
Itpr2	A	G	6: 146,277,464 (GRCm39)	M315T	probably benign	Het
Lrba	T	G	3: 86,261,588 (GRCm39)	L1514R	probably damaging	Het
Mcpt2	A	G	14: 56,279,573 (GRCm39)		probably benign	Het
Metap1d	A	G	2: 71,283,715 (GRCm39)	I5V	probably benign	Het
Mga	T	A	2: 119,790,923 (GRCm39)	S2479T	probably damaging	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Mroh2b	G	A	15: 4,950,928 (GRCm39)		probably null	Het
Mtfr1	C	T	3: 19,254,308 (GRCm39)	R15*	probably null	Het
Npm2	A	G	14: 70,885,749 (GRCm39)	V152A	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Ogdhl	A	G	14: 32,057,302 (GRCm39)	N303D	probably damaging	Het
Or10g9	T	C	9: 39,912,220 (GRCm39)	Y101C	probably benign	Het
Or10q1b	T	C	19: 13,682,758 (GRCm39)	V189A	probably damaging	Het
Or4d11	T	C	19: 12,013,452 (GRCm39)	Y218C	probably damaging	Het
Or6s1	A	G	14: 51,308,238 (GRCm39)	V204A	probably benign	Het
Pah	T	C	10: 87,403,197 (GRCm39)	F191L	probably damaging	Het
Paics	A	T	5: 77,109,291 (GRCm39)	I209F	probably damaging	Het
Pcare	T	C	17: 72,059,521 (GRCm39)	D52G	probably damaging	Het
Pld6	A	G	11: 59,678,184 (GRCm39)	L93P	probably damaging	Het
Plod3	T	C	5: 137,019,862 (GRCm39)	F431L	possibly damaging	Het
Ppm1b	T	A	17: 85,301,862 (GRCm39)	D247E	probably damaging	Het
Prx	A	G	7: 27,217,410 (GRCm39)	D637G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,720,679 (GRCm39)	Y2656*	probably null	Het
Setd2	T	A	9: 110,423,756 (GRCm39)	Y492*	probably null	Het
Shmt1	A	G	11: 60,697,825 (GRCm39)	W9R	possibly damaging	Het
Sptlc1	A	T	13: 53,505,675 (GRCm39)	Y248N	probably damaging	Het
Stam2	T	C	2: 52,584,936 (GRCm39)	T453A	probably benign	Het
Tango2	G	T	16: 18,128,762 (GRCm39)	N77K	probably damaging	Het
Tas2r121	A	T	6: 132,677,831 (GRCm39)	I47N	probably damaging	Het
Terb1	A	T	8: 105,179,347 (GRCm39)	C614S	probably damaging	Het
Terb1	T	C	8: 105,199,369 (GRCm39)	N525S	probably benign	Het
Ttc6	A	G	12: 57,719,904 (GRCm39)	D825G	possibly damaging	Het
U90926	A	T	5: 92,357,838 (GRCm39)	H104Q	probably benign	Het
Zfand4	G	A	6: 116,291,742 (GRCm39)	A559T	possibly damaging	Het
Zfp462	T	C	4: 55,009,524 (GRCm39)	S497P	possibly damaging	Het

Other mutations in Slc25a17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Slc25a17	APN	15	81,211,527 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GTAAGTTCCAGGACAGCCAG -3'
(R):5'- GCCCATGGCTTTTGTTCATG -3'

Sequencing Primer
(F):5'- GGGCTACACAGAGAAACCCTGTC -3'
(R):5'- CATGGCTTTTGTTCATGATCTTTAC -3'

Posted On

2014-10-02