Mutagenetix > Incidental Mutation

Incidental Mutation 'R6207:Slc25a17'

503223

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

044341-MU

Accession Numbers

Essential gene?

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

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81203122-81244966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81213265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 146 (Y146C)

Ref Sequence

ENSEMBL: ENSMUSP00000155823 (fasta)

Gene Model

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

AlphaFold

O70579

Predicted Effect

probably damaging
Transcript: ENSMUST00000023040
AA Change: Y146C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: Y146C

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 damaging
Transcript: ENSMUST00000231140
AA Change: Y146C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,430,065 (GRCm39)	P69S	probably damaging	Het
Abca15	A	G	7: 119,973,017 (GRCm39)	R864G	probably benign	Het
Acbd5	T	C	2: 22,959,490 (GRCm39)	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,604,955 (GRCm39)		probably null	Het
Ak3	T	A	19: 29,000,340 (GRCm39)	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,183,575 (GRCm39)		probably null	Het
Calcrl	T	C	2: 84,163,874 (GRCm39)	H439R	probably benign	Het
Casp7	T	A	19: 56,429,452 (GRCm39)	D279E	possibly damaging	Het
Cckar	A	G	5: 53,857,186 (GRCm39)	V337A	probably benign	Het
Cep85l	T	C	10: 53,157,651 (GRCm39)	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Homo
Commd7	T	C	2: 153,474,530 (GRCm39)	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,271,734 (GRCm39)	I365F	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dot1l	C	T	10: 80,622,277 (GRCm39)	A831V	probably benign	Het
Entrep1	T	C	19: 23,950,802 (GRCm39)	E593G	probably damaging	Het
Epcam	C	A	17: 87,947,864 (GRCm39)	N111K	probably damaging	Het
Etnk1	A	G	6: 143,126,524 (GRCm39)	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,415,017 (GRCm39)	E221V	probably damaging	Het
Fbl	T	C	7: 27,874,278 (GRCm39)	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,874,251 (GRCm39)	Y82*	probably null	Het
Fer1l5	A	G	1: 36,424,241 (GRCm39)	K285R	probably damaging	Het
Foxn3	G	T	12: 99,162,569 (GRCm39)	T444K	probably damaging	Het
Gak	C	T	5: 108,772,895 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,502,931 (GRCm39)	I311V	probably benign	Het
Hrg	T	C	16: 22,773,288 (GRCm39)		probably null	Het
Htatip2	G	A	7: 49,420,567 (GRCm39)	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,451,142 (GRCm39)		probably benign	Het
Kcnq2	T	C	2: 180,755,026 (GRCm39)	M174V	possibly damaging	Het
Krt39	G	T	11: 99,412,041 (GRCm39)	P15Q	probably damaging	Het
L1td1	G	A	4: 98,625,655 (GRCm39)	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,779,382 (GRCm39)	K88*	probably null	Het
Lims1	A	T	10: 58,230,386 (GRCm39)	K49M	possibly damaging	Het
Man2a1	T	C	17: 65,020,600 (GRCm39)	V792A	probably benign	Het
Mcm2	G	T	6: 88,862,844 (GRCm39)	D749E	probably benign	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Myb	A	G	10: 21,021,221 (GRCm39)	S403P	probably benign	Het
Nek6	T	C	2: 38,447,846 (GRCm39)	S37P	possibly damaging	Het
Or10d1b	T	C	9: 39,613,606 (GRCm39)	H153R	probably benign	Het
Or14c46	A	C	7: 85,918,968 (GRCm39)	F10V	probably damaging	Het
Or52a33	A	G	7: 103,289,209 (GRCm39)	V46A	probably benign	Het
Or56b2j	G	A	7: 104,352,818 (GRCm39)	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prune2	T	A	19: 17,095,480 (GRCm39)	I328N	probably damaging	Het
Psap	T	A	10: 60,136,317 (GRCm39)	C484S	probably damaging	Het
Pus1	T	C	5: 110,925,580 (GRCm39)	D80G	probably benign	Het
Rasa3	T	C	8: 13,648,251 (GRCm39)	T138A	possibly damaging	Het
Scaf1	G	T	7: 44,657,047 (GRCm39)		probably benign	Het
Skap1	T	A	11: 96,594,959 (GRCm39)	Y143*	probably null	Het
Slc22a20	A	G	19: 6,035,969 (GRCm39)	L67P	probably damaging	Het
Slfn4	C	T	11: 83,079,951 (GRCm39)	T154I	possibly damaging	Het
Snai1	T	A	2: 167,380,229 (GRCm39)	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,052,655 (GRCm39)	M84K	probably benign	Het
Spop	G	T	11: 95,362,063 (GRCm39)	K31N	possibly damaging	Het
Surf1	T	C	2: 26,804,819 (GRCm39)	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,037,165 (GRCm39)	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,363,266 (GRCm39)	A67V	probably damaging	Het
Timd4	A	T	11: 46,706,353 (GRCm39)	M52L	probably damaging	Het
Trav16	A	T	14: 53,981,045 (GRCm39)	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,907 (GRCm39)	T147A	probably damaging	Het
Tulp1	A	T	17: 28,577,651 (GRCm39)		probably benign	Het
Ubqlnl	A	T	7: 103,797,915 (GRCm39)	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,148,559 (GRCm39)	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,665,910 (GRCm39)	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,313,926 (GRCm39)	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 41,909,616 (GRCm39)	H47L	probably benign	Het
Vwa5a	A	G	9: 38,633,968 (GRCm39)	E57G	probably damaging	Het
Zfp180	A	T	7: 23,804,510 (GRCm39)	R310*	probably null	Het
Zfp672	T	C	11: 58,208,349 (GRCm39)		probably benign	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
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
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'- AATGTTCAGGGCTGAGACTC -3'
(R):5'- GGCATTTGTTGTAACCCAGC -3'

Sequencing Primer
(F):5'- TCAGCCCAGATGAGTTCTATGGAC -3'
(R):5'- TAAGCCTTACCTGAAGTCAGTGGC -3'

Posted On

2018-02-27