Mutagenetix > Incidental Mutation

Incidental Mutation 'R7331:Slc25a17'

569256

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

045424-MU

Accession Numbers

Essential gene?

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

Stock #

R7331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81203122-81244966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81213346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 119 (T119M)

Ref Sequence

ENSEMBL: ENSMUSP00000023040 (fasta)

Gene Model

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

AlphaFold

O70579

Predicted Effect

probably damaging
Transcript: ENSMUST00000023040
AA Change: T119M

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

SMART Domains

Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: T119M

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

probably damaging
Transcript: ENSMUST00000231140
AA Change: T119M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (48/48)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,331,728 (GRCm39)	H47L	possibly damaging	Het
Adgrf5	T	C	17: 43,748,484 (GRCm39)	S438P	probably damaging	Het
Atg16l2	C	A	7: 100,948,255 (GRCm39)	K96N	probably damaging	Het
Bglap2	A	T	3: 88,285,567 (GRCm39)	M35K	possibly damaging	Het
Btbd1	T	A	7: 81,465,720 (GRCm39)	I209L	probably damaging	Het
Cdc34	T	C	10: 79,521,146 (GRCm39)	Y148H	probably damaging	Het
Clcc1	A	G	3: 108,575,394 (GRCm39)	D157G	probably damaging	Het
Csmd2	A	T	4: 128,458,021 (GRCm39)		probably null	Het
Ctsj	G	A	13: 61,151,645 (GRCm39)	S90L	probably benign	Het
Cycs	A	G	6: 50,542,532 (GRCm39)	F37L	probably benign	Het
Dync2li1	T	A	17: 84,955,086 (GRCm39)	C248*	probably null	Het
Dzank1	A	T	2: 144,332,190 (GRCm39)	I382N	probably benign	Het
Eif4a3l2	G	A	6: 116,529,130 (GRCm39)	V336I	probably benign	Het
Enpp2	T	C	15: 54,739,066 (GRCm39)	I406V	probably damaging	Het
Ero1b	A	G	13: 12,615,015 (GRCm39)	E282G	probably damaging	Het
Fastkd5	A	T	2: 130,457,647 (GRCm39)	N314K	possibly damaging	Het
Fbh1	A	T	2: 11,768,797 (GRCm39)	C300S	probably benign	Het
Fchsd1	T	C	18: 38,101,823 (GRCm39)	I49V	possibly damaging	Het
Foxn1	A	G	11: 78,249,615 (GRCm39)	Y637H	probably damaging	Het
Gabarap	A	G	11: 69,885,298 (GRCm39)	E101G	possibly damaging	Het
Gm7247	A	G	14: 51,601,792 (GRCm39)	R22G	probably damaging	Het
Gm7694	A	T	1: 170,129,180 (GRCm39)	D116E	possibly damaging	Het
Gm9508	A	G	10: 77,532,629 (GRCm39)	C147R	unknown	Het
Gpr152	A	G	19: 4,192,608 (GRCm39)	M50V	probably damaging	Het
Hunk	T	A	16: 90,269,450 (GRCm39)	N331K	possibly damaging	Het
Il1r2	A	G	1: 40,162,409 (GRCm39)	T351A	probably benign	Het
Iqub	A	G	6: 24,500,393 (GRCm39)	V287A	possibly damaging	Het
Lix1	A	T	17: 17,647,474 (GRCm39)	T47S	probably benign	Het
Lrp1b	A	T	2: 40,553,622 (GRCm39)		probably null	Het
Nup107	G	A	10: 117,606,103 (GRCm39)	T500I	probably damaging	Het
Phf21b	G	C	15: 84,675,295 (GRCm39)	R405G	probably benign	Het
Piezo2	A	G	18: 63,241,101 (GRCm39)	V709A	probably damaging	Het
Psme3ip1	T	A	8: 95,309,564 (GRCm39)	K143*	probably null	Het
Rfc1	T	C	5: 65,468,387 (GRCm39)	T109A	probably damaging	Het
Rpa1	A	G	11: 75,203,941 (GRCm39)	V302A	probably damaging	Het
Ryr2	A	G	13: 11,760,517 (GRCm39)	I1522T	probably benign	Het
Ryr3	C	A	2: 112,594,010 (GRCm39)	R2578L	possibly damaging	Het
Scgb2b18	C	T	7: 32,872,681 (GRCm39)	W41*	probably null	Het
Sdccag8	C	G	1: 176,695,856 (GRCm39)	Q387E	possibly damaging	Het
Slc45a4	G	T	15: 73,477,489 (GRCm39)	Q16K	probably benign	Het
Slc4a1	G	A	11: 102,252,245 (GRCm39)		probably benign	Het
Slc7a14	T	C	3: 31,311,880 (GRCm39)	T47A	probably benign	Het
Stard6	A	G	18: 70,616,553 (GRCm39)	R71G	probably damaging	Het
Tecr	A	G	8: 84,298,564 (GRCm39)	V321A	probably damaging	Het
Ttc3	T	A	16: 94,195,218 (GRCm39)	F290L	probably benign	Het
Uqcc1	A	G	2: 155,753,731 (GRCm39)	V48A	probably benign	Het
V1rd19	T	A	7: 23,703,308 (GRCm39)	I258N	probably damaging	Het
Zar1	T	A	5: 72,737,655 (GRCm39)	E249V	possibly damaging	Het
Zfp101	T	C	17: 33,601,559 (GRCm39)	T66A	possibly damaging	Het
Zyx	A	G	6: 42,328,593 (GRCm39)	H230R	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
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
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'- AACAATGGCTTCCTGACAGTTG -3'
(R):5'- TGTGAGGAAGCCCTGCTATC -3'

Sequencing Primer
(F):5'- GCTTCCTGACAGTTGAAGCTG -3'
(R):5'- TCCAGATGGCTTCTAACAGCAGTG -3'

Posted On

2019-09-13