Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01726:Slc25a32'

105303

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a32

Ensembl Gene

ENSMUSG00000022299

Gene Name

solute carrier family 25, member 32

Synonyms

2610043O12Rik, Mftc

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

IGL01726

Quality Score

Status

Chromosome

Chromosomal Location

38954626-38976111 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 38965466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022908] [ENSMUST00000227323] [ENSMUST00000228160]

AlphaFold

Q8BMG8

Predicted Effect

probably benign
Transcript: ENSMUST00000022908

SMART Domains

Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Pfam:Mito_carr	20	113	4.5e-24	PFAM
Pfam:Mito_carr	116	214	1e-24	PFAM
Pfam:Mito_carr	220	311	3.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226144

Predicted Effect

probably benign
Transcript: ENSMUST00000227323

Predicted Effect

probably benign
Transcript: ENSMUST00000228160

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 member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,638,147 (GRCm39)		probably null	Het
Arpc2	A	G	1: 74,287,338 (GRCm39)	T53A	probably benign	Het
Ccdc170	C	A	10: 4,499,713 (GRCm39)	L545M	probably benign	Het
Ccm2l	T	C	2: 152,922,821 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,810,391 (GRCm39)	N2166D	probably benign	Het
Clca4b	T	G	3: 144,634,103 (GRCm39)	D104A	probably damaging	Het
Clcnka	C	T	4: 141,120,051 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,551,518 (GRCm39)	N201K	probably damaging	Het
Cyp1a2	G	A	9: 57,589,485 (GRCm39)	L110F	possibly damaging	Het
Dhtkd1	T	C	2: 5,947,467 (GRCm39)	T6A	unknown	Het
Enthd1	A	C	15: 80,336,652 (GRCm39)	L594R	probably damaging	Het
Espnl	A	G	1: 91,272,626 (GRCm39)	D618G	probably benign	Het
Gm6096	A	T	7: 33,950,904 (GRCm39)	I148F	probably damaging	Het
Hsf5	C	T	11: 87,526,951 (GRCm39)	T541I	probably benign	Het
Il18r1	A	G	1: 40,537,563 (GRCm39)	S443G	possibly damaging	Het
Il1a	T	C	2: 129,146,640 (GRCm39)	D151G	possibly damaging	Het
Ints1	A	G	5: 139,754,166 (GRCm39)		probably benign	Het
Kcnh1	A	C	1: 192,188,164 (GRCm39)	D875A	possibly damaging	Het
Naip6	T	A	13: 100,439,760 (GRCm39)	I336F	probably benign	Het
Napepld	A	G	5: 21,880,657 (GRCm39)	F246S	possibly damaging	Het
Nova1	C	T	12: 46,760,280 (GRCm39)		probably null	Het
Nsa2	C	A	13: 97,268,525 (GRCm39)	A181S	probably damaging	Het
Ntn5	C	A	7: 45,343,671 (GRCm39)	R337S	probably damaging	Het
Nynrin	T	C	14: 56,101,611 (GRCm39)	S427P	probably benign	Het
Or52e5	A	G	7: 104,718,836 (GRCm39)	E54G	probably damaging	Het
Pcgf1	T	A	6: 83,055,867 (GRCm39)		probably null	Het
Pfn4	T	A	12: 4,824,446 (GRCm39)	L58I	probably benign	Het
Plekha1	C	A	7: 130,499,059 (GRCm39)	P116Q	probably damaging	Het
Pou5f2	T	C	13: 78,173,300 (GRCm39)	S81P	possibly damaging	Het
Prag1	A	G	8: 36,570,146 (GRCm39)	D243G	probably damaging	Het
Rbm26	G	A	14: 105,389,943 (GRCm39)	P227L	probably damaging	Het
Rgl1	A	T	1: 152,394,904 (GRCm39)	N756K	probably damaging	Het
Rhou	A	T	8: 124,380,880 (GRCm39)	T66S	possibly damaging	Het
Rspo3	A	T	10: 29,380,704 (GRCm39)	D103E	probably benign	Het
Rundc3b	T	C	5: 8,570,902 (GRCm39)	K306E	probably benign	Het
St6galnac2	C	T	11: 116,575,945 (GRCm39)	D169N	probably damaging	Het
Tars3	A	G	7: 65,332,566 (GRCm39)	T556A	possibly damaging	Het
Tmem266	A	G	9: 55,342,486 (GRCm39)	K324E	probably benign	Het
Tnrc6c	T	C	11: 117,640,161 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,817,971 (GRCm39)	S452T	probably damaging	Het
Tspear	T	A	10: 77,717,121 (GRCm39)		probably benign	Het
Ttll5	T	G	12: 85,965,708 (GRCm39)	I571S	probably benign	Het
Ttn	T	C	2: 76,797,433 (GRCm39)	T544A	probably benign	Het
Ubn1	T	C	16: 4,891,334 (GRCm39)		probably null	Het
Ubr2	C	A	17: 47,303,907 (GRCm39)		probably benign	Het
Usp21	A	T	1: 171,111,574 (GRCm39)	W360R	probably damaging	Het
Vmn2r62	A	T	7: 42,414,526 (GRCm39)	L639H	probably damaging	Het
Zc3h7b	T	A	15: 81,656,000 (GRCm39)	I116N	possibly damaging	Het
Zfp618	C	T	4: 63,050,872 (GRCm39)	T551I	probably damaging	Het
Zfp804b	T	C	5: 7,230,707 (GRCm39)		probably benign	Het
Zkscan8	T	C	13: 21,704,973 (GRCm39)	H322R	probably benign	Het
Zwint	T	G	10: 72,493,019 (GRCm39)		probably null	Het

Other mutations in Slc25a32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Slc25a32	APN	15	38,961,002 (GRCm39)	missense	probably damaging	1.00
IGL02719:Slc25a32	APN	15	38,963,300 (GRCm39)	missense	probably benign	0.31
IGL03387:Slc25a32	APN	15	38,969,359 (GRCm39)	missense	probably benign	0.33
IGL03408:Slc25a32	APN	15	38,963,425 (GRCm39)	missense	probably benign	0.08
R0103:Slc25a32	UTSW	15	38,963,292 (GRCm39)	nonsense	probably null
R0103:Slc25a32	UTSW	15	38,963,292 (GRCm39)	nonsense	probably null
R0511:Slc25a32	UTSW	15	38,960,940 (GRCm39)	missense	probably benign
R1346:Slc25a32	UTSW	15	38,963,411 (GRCm39)	missense	probably benign	0.03
R2519:Slc25a32	UTSW	15	38,959,450 (GRCm39)	missense	probably damaging	1.00
R4987:Slc25a32	UTSW	15	38,963,414 (GRCm39)	missense	possibly damaging	0.96
R5586:Slc25a32	UTSW	15	38,963,308 (GRCm39)	missense	possibly damaging	0.87
R5718:Slc25a32	UTSW	15	38,960,957 (GRCm39)	missense	probably benign	0.18
R6932:Slc25a32	UTSW	15	38,960,984 (GRCm39)	missense	possibly damaging	0.80
R7021:Slc25a32	UTSW	15	38,963,321 (GRCm39)	missense	probably benign
R7270:Slc25a32	UTSW	15	38,961,630 (GRCm39)	missense	probably damaging	0.99
R8224:Slc25a32	UTSW	15	38,976,015 (GRCm39)	unclassified	probably benign
R8523:Slc25a32	UTSW	15	38,963,281 (GRCm39)	missense	probably benign	0.23
R8872:Slc25a32	UTSW	15	38,969,339 (GRCm39)	missense	probably benign	0.01
R8955:Slc25a32	UTSW	15	38,960,946 (GRCm39)	missense	probably damaging	1.00
R9684:Slc25a32	UTSW	15	38,969,339 (GRCm39)	missense	probably benign	0.01
X0002:Slc25a32	UTSW	15	38,965,473 (GRCm39)	splice site	probably null

Posted On

2014-01-21