Mutagenetix > Incidental Mutation

Incidental Mutation 'R4287:Slc25a51'

322057

Institutional Source

Beutler Lab

Gene Symbol

Slc25a51

Ensembl Gene

ENSMUSG00000045973

Gene Name

solute carrier family 25, member 51

Synonyms

Mcart1, 9130208E07Rik, D130005A03Rik

MMRRC Submission

041652-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R4287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45395923-45408766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45399768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 141 (V141M)

Ref Sequence

ENSEMBL: ENSMUSP00000122620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107796] [ENSMUST00000116341] [ENSMUST00000132815] [ENSMUST00000151516] [ENSMUST00000153904]

AlphaFold

Q5HZI9

Predicted Effect

probably benign
Transcript: ENSMUST00000107796
AA Change: V141M

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103425
Gene: ENSMUSG00000045973
AA Change: V141M

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	44	130	4.7e-11	PFAM
Pfam:Mito_carr	132	223	3.5e-11	PFAM
Pfam:Mito_carr	225	315	5.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116341
AA Change: V124M

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112044
Gene: ENSMUSG00000045973
AA Change: V124M

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	27	113	7.4e-12	PFAM
Pfam:Mito_carr	115	206	5.5e-12	PFAM
Pfam:Mito_carr	208	298	8.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132815
AA Change: V124M

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134132
Gene: ENSMUSG00000045973
AA Change: V124M

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	27	113	7.4e-12	PFAM
Pfam:Mito_carr	115	206	5.5e-12	PFAM
Pfam:Mito_carr	208	298	8.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151516
AA Change: V141M

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134108
Gene: ENSMUSG00000045973
AA Change: V141M

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	44	130	1.7e-11	PFAM
Pfam:Mito_carr	132	196	1.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153904
AA Change: V141M

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122620
Gene: ENSMUSG00000045973
AA Change: V141M

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	44	130	2e-11	PFAM
Pfam:Mito_carr	132	206	3e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175444

Meta Mutation Damage Score

0.1604

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc5	A	G	5: 122,938,664 (GRCm39)	V362A	probably benign	Het
Ash1l	T	A	3: 88,973,722 (GRCm39)	C2594S	probably damaging	Het
Ccdc82	C	A	9: 13,253,043 (GRCm39)	Q303K	probably benign	Het
Cog1	A	G	11: 113,544,853 (GRCm39)	Y345C	probably damaging	Het
Fpgt	T	C	3: 154,796,997 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,752,539 (GRCm39)	V408D	possibly damaging	Het
Gm7135	A	G	1: 97,328,123 (GRCm39)		noncoding transcript	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Itgav	G	T	2: 83,555,184 (GRCm39)	E36*	probably null	Het
Kidins220	G	A	12: 25,106,845 (GRCm39)	E1433K	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra3	A	G	6: 130,311,265 (GRCm39)	C39R	probably benign	Het
Lce1i	A	G	3: 92,684,742 (GRCm39)	S145P	unknown	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mpp3	G	A	11: 101,914,289 (GRCm39)	A102V	probably damaging	Het
Mug2	T	A	6: 122,040,632 (GRCm39)	D727E	probably benign	Het
Ndufb8	T	C	19: 44,541,130 (GRCm39)	I107V	probably benign	Het
Or5h18	A	T	16: 58,847,976 (GRCm39)	M98K	probably benign	Het
Pnn	C	T	12: 59,118,956 (GRCm39)	T513I	possibly damaging	Het
Ric8a	A	G	7: 140,441,335 (GRCm39)	Y210C	probably damaging	Het
Ripor2	G	A	13: 24,908,992 (GRCm39)	V1037M	probably damaging	Het
Rreb1	A	T	13: 38,115,907 (GRCm39)	T1089S	probably benign	Het
Rrs1	C	T	1: 9,616,440 (GRCm39)	S231L	probably damaging	Het
Rrs1	C	T	1: 9,616,448 (GRCm39)	R234C	possibly damaging	Het
Sec23ip	A	G	7: 128,379,057 (GRCm39)	D838G	probably benign	Het
Setbp1	T	C	18: 78,902,276 (GRCm39)	I464V	probably benign	Het
Slc41a3	A	T	6: 90,617,904 (GRCm39)	H310L	probably benign	Het
Smurf1	A	G	5: 144,828,268 (GRCm39)	S363P	probably benign	Het
Tln1	C	T	4: 43,543,509 (GRCm39)	R1269Q	probably benign	Het
Tmed3	A	G	9: 89,586,951 (GRCm39)	S10P	probably benign	Het
Tomm70a	T	G	16: 56,960,985 (GRCm39)	Y313D	probably damaging	Het
Umodl1	A	G	17: 31,207,039 (GRCm39)	E810G	probably benign	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	probably damaging	Het
Unc5d	T	A	8: 29,209,824 (GRCm39)	Y432F	probably benign	Het
Vmn2r97	A	T	17: 19,168,337 (GRCm39)		probably benign	Het
Zfp629	T	C	7: 127,211,110 (GRCm39)	Y233C	probably damaging	Het
Zfp986	T	C	4: 145,619,088 (GRCm39)		probably null	Het

Other mutations in Slc25a51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02417:Slc25a51	APN	4	45,400,074 (GRCm39)	missense	probably benign	0.03
R4284:Slc25a51	UTSW	4	45,399,768 (GRCm39)	missense	probably benign	0.43
R4285:Slc25a51	UTSW	4	45,399,768 (GRCm39)	missense	probably benign	0.43
R4505:Slc25a51	UTSW	4	45,399,768 (GRCm39)	missense	probably benign	0.43
R4506:Slc25a51	UTSW	4	45,399,768 (GRCm39)	missense	probably benign	0.43
R6819:Slc25a51	UTSW	4	45,399,365 (GRCm39)	missense	possibly damaging	0.95
R7387:Slc25a51	UTSW	4	45,399,841 (GRCm39)	missense	possibly damaging	0.95
R7432:Slc25a51	UTSW	4	45,399,765 (GRCm39)	missense	possibly damaging	0.95
R8094:Slc25a51	UTSW	4	45,399,783 (GRCm39)	missense	probably benign	0.00
R9056:Slc25a51	UTSW	4	45,399,494 (GRCm39)	missense	probably damaging	1.00
R9512:Slc25a51	UTSW	4	45,399,360 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCGGAAAAGGATGGGCAC -3'
(R):5'- ACCCGGTTCAGAAGATCCTC -3'

Sequencing Primer
(F):5'- ACCATGCCTCGGTAATACTCTG -3'
(R):5'- GCAGCTTTACGGCATCAAG -3'

Posted On

2015-06-20