Mutagenetix > Incidental Mutation

Incidental Mutation 'R4506:Slc25a51'

332004

Institutional Source

Beutler Lab

Gene Symbol

Slc25a51

Ensembl Gene

ENSMUSG00000045973

Gene Name

solute carrier family 25, member 51

Synonyms

Mcart1, 9130208E07Rik, D130005A03Rik

MMRRC Submission

041584-MU

Accession Numbers

Essential gene?

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

Stock #

R4506 (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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,685,087 (GRCm39)	P137T	probably damaging	Het
Abcc5	A	T	16: 20,152,445 (GRCm39)	I1367N	probably damaging	Het
Ace	T	A	11: 105,867,492 (GRCm39)	L152Q	probably damaging	Het
Adam19	G	A	11: 46,009,271 (GRCm39)	D232N	possibly damaging	Het
Anapc4	A	T	5: 52,993,072 (GRCm39)	N61I	possibly damaging	Het
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Atr	T	A	9: 95,747,290 (GRCm39)	C191S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cnot6l	A	T	5: 96,234,033 (GRCm39)	V326E	possibly damaging	Het
Fcer2a	A	T	8: 3,738,603 (GRCm39)		probably null	Het
Fgfr3	A	G	5: 33,887,343 (GRCm39)	T221A	probably damaging	Het
Gm6632	C	T	5: 59,211,821 (GRCm39)		noncoding transcript	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
H2-T5	A	T	17: 36,472,372 (GRCm39)		probably benign	Het
Ip6k3	A	T	17: 27,364,154 (GRCm39)	L298Q	possibly damaging	Het
Itpr1	A	G	6: 108,409,647 (GRCm39)	D1727G	probably damaging	Het
Kdm2b	T	C	5: 123,026,688 (GRCm39)	T589A	possibly damaging	Het
Krtcap2	A	G	3: 89,153,563 (GRCm39)		probably benign	Het
Map3k13	A	G	16: 21,740,928 (GRCm39)	S752G	probably benign	Het
Mvb12a	G	T	8: 71,996,103 (GRCm39)	A86S	probably benign	Het
Nktr	T	A	9: 121,577,949 (GRCm39)		probably benign	Het
Or1e33	A	T	11: 73,738,521 (GRCm39)	C143*	probably null	Het
Or8a1b	C	T	9: 37,622,760 (GRCm39)	V272I	probably benign	Het
Parp4	T	A	14: 56,889,761 (GRCm39)	N1847K	unknown	Het
Pcdhga8	G	C	18: 37,949,816 (GRCm39)	V411L	probably damaging	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Slc7a5	A	T	8: 122,614,234 (GRCm39)		probably null	Het
Slc7a9	A	T	7: 35,152,845 (GRCm39)	T88S	probably damaging	Het
Tbrg1	T	A	9: 37,565,691 (GRCm39)	E87V	probably damaging	Het
Tnfsf4	T	C	1: 161,244,745 (GRCm39)	S145P	probably damaging	Het
Tomm34	C	A	2: 163,896,292 (GRCm39)		probably null	Het
Trpv3	A	G	11: 73,186,150 (GRCm39)	N647S	probably benign	Het
Upf1	G	A	8: 70,790,216 (GRCm39)	R637C	probably damaging	Het
Vmn2r23	A	T	6: 123,679,884 (GRCm39)	Q35H	probably damaging	Het
Wdtc1	C	T	4: 133,036,130 (GRCm39)	V137M	probably damaging	Het
Zfp276	G	A	8: 123,991,666 (GRCm39)		probably null	Het
Zfp90	C	T	8: 107,151,496 (GRCm39)	P403L	possibly damaging	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
R4287: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
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'- CTTACCCGGTTCAGAAGATCCTC -3'

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

Posted On

2015-07-21