Mutagenetix > Incidental Mutation

Incidental Mutation 'R9684:Slc25a32'

728762

Institutional Source

Beutler Lab

Gene Symbol

Slc25a32

Ensembl Gene

ENSMUSG00000022299

Gene Name

solute carrier family 25, member 32

Synonyms

2610043O12Rik, Mftc

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R9684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38954626-38976111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38969339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 65 (I65V)

Ref Sequence

ENSEMBL: ENSMUSP00000022908 (fasta)

Gene Model

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

AlphaFold

Q8BMG8

Predicted Effect

probably benign
Transcript: ENSMUST00000022908
AA Change: I65V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299
AA Change: I65V

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: I65V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000228160
AA Change: I65V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.1264

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,283,307 (GRCm39)	D3243V	probably damaging	Het
Acot3	T	C	12: 84,105,650 (GRCm39)	L281P	probably benign	Het
Asb4	A	C	6: 5,398,296 (GRCm39)	H87P	probably damaging	Het
Ccnt1	A	T	15: 98,446,566 (GRCm39)	Y175N	probably damaging	Het
Cdh11	A	G	8: 103,391,327 (GRCm39)	V303A	probably benign	Het
Cdk19	T	A	10: 40,351,594 (GRCm39)	M297K	probably damaging	Het
Ces2c	A	C	8: 105,574,699 (GRCm39)	D52A	probably benign	Het
Cox10	C	T	11: 63,855,207 (GRCm39)	R358H	probably damaging	Het
Cryzl1	A	G	16: 91,487,634 (GRCm39)	I302T	probably benign	Het
Def6	T	C	17: 28,436,044 (GRCm39)	Y68H	probably damaging	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Ehmt1	T	C	2: 24,753,329 (GRCm39)	D357G	possibly damaging	Het
Ermp1	G	T	19: 29,594,106 (GRCm39)	T688N	probably benign	Het
F830016B08Rik	T	C	18: 60,433,043 (GRCm39)	I42T	probably damaging	Het
Gbp7	A	G	3: 142,240,327 (GRCm39)	E15G	possibly damaging	Het
Ghdc	A	G	11: 100,661,091 (GRCm39)	S25P	probably benign	Het
Gm45861	A	G	8: 28,014,601 (GRCm39)	N613S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gzmf	T	A	14: 56,444,444 (GRCm39)	D43V	probably benign	Het
Hdac10	C	A	15: 89,011,402 (GRCm39)	D172Y	probably damaging	Het
Krt32	T	A	11: 99,977,308 (GRCm39)	R197S	probably damaging	Het
Lama5	T	C	2: 179,849,038 (GRCm39)	D215G	probably damaging	Het
M1ap	C	A	6: 82,945,094 (GRCm39)	H129Q	probably benign	Het
Mfsd3	A	G	15: 76,587,183 (GRCm39)	D312G	probably benign	Het
Muc5ac	A	G	7: 141,364,798 (GRCm39)	D2628G	probably benign	Het
Myoz3	T	C	18: 60,712,026 (GRCm39)	D184G	possibly damaging	Het
Ncor2	A	G	5: 125,102,139 (GRCm39)	L1217P		Het
Nepn	T	C	10: 52,276,801 (GRCm39)	V179A	probably benign	Het
Niban1	T	A	1: 151,593,538 (GRCm39)	I741N	possibly damaging	Het
Npr2	T	C	4: 43,632,491 (GRCm39)	Y103H	probably damaging	Het
Oosp3	A	T	19: 11,682,806 (GRCm39)	K158M	probably benign	Het
Or51i1	C	A	7: 103,671,079 (GRCm39)	G149C	probably damaging	Het
Or56a3	A	G	7: 104,735,589 (GRCm39)	Y222C		Het
Orc3	G	A	4: 34,607,135 (GRCm39)	T65I	probably benign	Het
Pcdhga7	T	C	18: 37,848,667 (GRCm39)	S225P	probably damaging	Het
Pcsk9	G	T	4: 106,307,386 (GRCm39)	L286I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma1	T	C	12: 84,193,941 (GRCm39)	Y254C	probably benign	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ralgapa1	T	C	12: 55,659,485 (GRCm39)	T2012A	possibly damaging	Het
Selp	T	A	1: 163,953,858 (GRCm39)	W53R	probably damaging	Het
Slc10a7	T	A	8: 79,456,304 (GRCm39)	V302E	possibly damaging	Het
Spesp1	A	G	9: 62,180,545 (GRCm39)	F121S	probably damaging	Het
Syncrip	T	C	9: 88,361,671 (GRCm39)	T110A	probably benign	Het
Tc2n	T	C	12: 101,660,818 (GRCm39)	D138G	probably benign	Het
Tnfrsf9	C	T	4: 151,018,865 (GRCm39)	P179S	probably benign	Het
Ube2r2	A	G	4: 41,183,329 (GRCm39)	T117A	probably benign	Het
Ush2a	A	C	1: 188,132,078 (GRCm39)	K767Q	possibly damaging	Het
Vdr	A	G	15: 97,767,285 (GRCm39)	V161A	probably benign	Het
Vmn1r33	T	C	6: 66,589,075 (GRCm39)	T160A	possibly damaging	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmp1	T	C	11: 86,476,156 (GRCm39)	N400S	probably benign	Het
Zfp599	G	A	9: 22,160,824 (GRCm39)	T447I	probably damaging	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
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
X0002:Slc25a32	UTSW	15	38,965,473 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGAACAAGCTACTCCGCTTCC -3'
(R):5'- TGCTCTGGCTGAATACTTTGGC -3'

Sequencing Primer
(F):5'- TCTGATTAGATGACTCATCAGTTACC -3'
(R):5'- CTCTGGCTGAATACTTTGGCAAATTG -3'

Posted On

2022-10-06