Mutagenetix > Incidental Mutation

Incidental Mutation 'R5718:Slc25a32'

451311

Institutional Source

Beutler Lab

Gene Symbol

Slc25a32

Ensembl Gene

ENSMUSG00000022299

Gene Name

solute carrier family 25, member 32

Synonyms

2610043O12Rik, Mftc

MMRRC Submission

043338-MU

Accession Numbers

Essential gene?

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

Stock #

R5718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38954626-38976111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38960957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 242 (V242E)

Ref Sequence

ENSEMBL: ENSMUSP00000154227 (fasta)

Gene Model

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

AlphaFold

Q8BMG8

Predicted Effect

probably benign
Transcript: ENSMUST00000022908
AA Change: V257E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299
AA Change: V257E

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

probably benign
Transcript: ENSMUST00000227323
AA Change: V242E

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000228160

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,603,514 (GRCm39)		probably null	Het
Ahctf1	G	T	1: 179,596,904 (GRCm39)	H81N	possibly damaging	Het
Alyref2	T	C	1: 171,331,678 (GRCm39)	S152P	possibly damaging	Het
Arhgef7	C	T	8: 11,835,774 (GRCm39)	T20I	probably damaging	Het
Armc3	T	G	2: 19,308,610 (GRCm39)	Y759*	probably null	Het
Atg5	A	G	10: 44,238,983 (GRCm39)	S255G	probably benign	Het
Atp11b	A	G	3: 35,891,665 (GRCm39)	I1026V	probably benign	Het
Atp1a2	C	A	1: 172,107,009 (GRCm39)	K770N	probably damaging	Het
Bptf	G	T	11: 107,002,260 (GRCm39)	A284E	probably damaging	Het
Celsr2	A	G	3: 108,300,674 (GRCm39)	S815P	probably benign	Het
Chrna5	A	G	9: 54,905,389 (GRCm39)	H67R	probably benign	Het
Cic	A	G	7: 24,972,203 (GRCm39)	I645V	probably benign	Het
Clpx	A	T	9: 65,207,246 (GRCm39)	Q48L	probably benign	Het
Crhr2	G	A	6: 55,069,085 (GRCm39)	Q397*	probably null	Het
Cyp11a1	G	A	9: 57,925,508 (GRCm39)	V48I	probably benign	Het
Dchs1	C	T	7: 105,404,955 (GRCm39)	R2529H	probably benign	Het
Dnah7c	A	T	1: 46,787,826 (GRCm39)	H3293L	possibly damaging	Het
Dock6	G	T	9: 21,735,789 (GRCm39)	D986E	probably benign	Het
Efcab6	T	A	15: 83,788,439 (GRCm39)	N952Y	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epg5	G	A	18: 78,029,618 (GRCm39)	C1327Y	probably damaging	Het
Fbxw18	T	C	9: 109,520,636 (GRCm39)	E241G	probably benign	Het
Fsd1	T	G	17: 56,297,542 (GRCm39)		probably benign	Het
Gcnt3	A	G	9: 69,941,552 (GRCm39)	S339P	probably benign	Het
Gldc	T	A	19: 30,088,172 (GRCm39)	K829*	probably null	Het
Gli3	G	A	13: 15,652,750 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Hmcn1	A	T	1: 150,566,351 (GRCm39)	C2217*	probably null	Het
Hmcn1	A	T	1: 150,485,417 (GRCm39)	I4395N	probably damaging	Het
Hmgxb3	A	G	18: 61,273,909 (GRCm39)	M861T	probably benign	Het
Ift172	A	G	5: 31,412,621 (GRCm39)	S1545P	possibly damaging	Het
Jak3	C	A	8: 72,136,998 (GRCm39)	L725M	probably damaging	Het
Lrig2	A	T	3: 104,375,931 (GRCm39)	C90*	probably null	Het
Mcm7	C	T	5: 138,163,081 (GRCm39)	R357H	possibly damaging	Het
Mcoln2	T	C	3: 145,887,581 (GRCm39)	S333P	probably damaging	Het
Mrpl22	A	T	11: 58,068,109 (GRCm39)	I136L	probably benign	Het
Ncam2	A	T	16: 81,386,702 (GRCm39)		probably null	Het
Ncdn	G	A	4: 126,643,743 (GRCm39)	Q360*	probably null	Het
Nsun2	A	G	13: 69,771,403 (GRCm39)	K338E	probably benign	Het
Obscn	T	C	11: 58,927,634 (GRCm39)	T6105A	probably damaging	Het
Or2aj6	G	A	16: 19,443,139 (GRCm39)	S237F	probably benign	Het
Or8g36	A	T	9: 39,422,338 (GRCm39)	L226H	probably damaging	Het
Pcnx4	T	A	12: 72,613,968 (GRCm39)	F638I	possibly damaging	Het
Pfn3	T	C	13: 55,562,853 (GRCm39)	I43V	probably benign	Het
Pigm	C	A	1: 172,205,012 (GRCm39)		probably null	Het
Pkhd1l1	T	A	15: 44,408,813 (GRCm39)	S2433R	probably damaging	Het
Pomt1	C	A	2: 32,138,704 (GRCm39)	A440D	possibly damaging	Het
Ptprj	T	C	2: 90,288,613 (GRCm39)	D691G	probably benign	Het
Qrich1	T	A	9: 108,406,022 (GRCm39)	S72T	probably damaging	Het
Ralgapa2	T	A	2: 146,295,326 (GRCm39)		probably null	Het
Rarg	A	C	15: 102,149,502 (GRCm39)	S156A	probably damaging	Het
Rasl11a	A	G	5: 146,783,954 (GRCm39)	K133R	probably benign	Het
Rcor1	A	G	12: 111,068,069 (GRCm39)	D158G	probably benign	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Sipa1l2	T	A	8: 126,217,987 (GRCm39)	H450L	probably damaging	Het
Slc25a21	T	C	12: 56,764,941 (GRCm39)	I263V	probably benign	Het
Slc5a5	T	A	8: 71,340,399 (GRCm39)	T484S	probably benign	Het
Tdrd3	T	C	14: 87,743,876 (GRCm39)	V608A	probably benign	Het
Thnsl1	C	A	2: 21,216,811 (GRCm39)	H188Q	possibly damaging	Het
Tshz1	A	T	18: 84,032,649 (GRCm39)	H586Q	probably damaging	Het
Vmn2r27	C	T	6: 124,169,103 (GRCm39)	A676T	possibly damaging	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Xbp1	T	A	11: 5,471,903 (GRCm39)	F10I	probably benign	Het
Zbtb1	G	A	12: 76,433,698 (GRCm39)	M561I	probably benign	Het
Zfp708	T	C	13: 67,218,522 (GRCm39)	K446E	probably benign	Het

Other mutations in Slc25a32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Slc25a32	APN	15	38,965,466 (GRCm39)	intron	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGACAGCCACACTCATCTTTTC -3'
(R):5'- AGACCTCGTGTTAAAGAGATAATGG -3'

Sequencing Primer
(F):5'- ACACTCATCTTTTCCACAGCAG -3'
(R):5'- CAGCCTGGTCTACAAAGTGAGTTC -3'

Posted On

2017-01-03