Mutagenetix > Incidental Mutation

Incidental Mutation 'R5423:Slc25a23'

426730

Institutional Source

Beutler Lab

Gene Symbol

Slc25a23

Ensembl Gene

ENSMUSG00000046329

Gene Name

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23

Synonyms

SCaMC-3, 2310067G05Rik

MMRRC Submission

042989-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57350711-57366863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57360597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 248 (V248M)

Ref Sequence

ENSEMBL: ENSMUSP00000040198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040280] [ENSMUST00000171528]

AlphaFold

Q6GQS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000040280
AA Change: V248M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: V248M

Domain	Start	End	E-Value	Type
EFh	13	41	2.72e-3	SMART
EFh	80	108	1.09e0	SMART
EFh	116	144	3.07e1	SMART
Pfam:Mito_carr	181	273	3.8e-25	PFAM
Pfam:Mito_carr	274	366	4.1e-26	PFAM
Pfam:Mito_carr	372	465	6.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163442

SMART Domains

Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	58	6.5e-15	PFAM
Pfam:Mito_carr	64	123	1.9e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165187

Predicted Effect

unknown
Transcript: ENSMUST00000170015
AA Change: V50M

SMART Domains

Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: V50M

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	76	1.9e-19	PFAM
Pfam:Mito_carr	77	166	1.2e-21	PFAM
Pfam:Mito_carr	172	265	7.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171128

Predicted Effect

probably benign
Transcript: ENSMUST00000171528

SMART Domains

Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	22	114	8.3e-29	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (60/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired mitochondrial function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts9	A	G	6: 92,857,678 (GRCm39)	I289T	possibly damaging	Het
Ak4	T	G	4: 101,317,760 (GRCm39)	I110S	probably damaging	Het
Arhgap9	T	G	10: 127,165,418 (GRCm39)	I609S	probably damaging	Het
Arid4a	C	A	12: 71,116,634 (GRCm39)	S242*	probably null	Het
Ceacam1	T	G	7: 25,173,951 (GRCm39)	I235L	probably benign	Het
Chil3	T	C	3: 106,055,978 (GRCm39)	D365G	probably damaging	Het
Ckap2	A	C	8: 22,667,212 (GRCm39)	S216R	probably benign	Het
Cyp2e1	G	T	7: 140,350,031 (GRCm39)	V239L	probably benign	Het
Dnah7b	T	A	1: 46,397,431 (GRCm39)	M3954K	probably benign	Het
Ercc6l2	A	T	13: 64,020,072 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,202,404 (GRCm39)	D468G	probably damaging	Het
Fbxo44	T	A	4: 148,238,686 (GRCm39)	I213F	probably benign	Het
Gm5084	A	G	13: 60,360,356 (GRCm39)		noncoding transcript	Het
Gpr17	G	A	18: 32,080,694 (GRCm39)	T123I	probably damaging	Het
Grin3a	A	G	4: 49,770,376 (GRCm39)		probably benign	Het
H2-D1	T	G	17: 35,484,883 (GRCm39)	L248R	probably damaging	Het
Hmcn1	T	C	1: 150,577,723 (GRCm39)	I2013V	probably damaging	Het
Hp1bp3	A	T	4: 137,953,208 (GRCm39)	D84V	probably damaging	Het
Ift140	T	C	17: 25,252,059 (GRCm39)	F33S	probably damaging	Het
Inhbc	C	G	10: 127,193,296 (GRCm39)	C240S	probably damaging	Het
Iqgap1	T	A	7: 80,449,610 (GRCm39)	E62V	probably damaging	Het
Kcna4	G	A	2: 107,126,151 (GRCm39)	W295*	probably null	Het
Kdm4a	C	T	4: 117,996,105 (GRCm39)	A975T	probably damaging	Het
Lrrtm3	T	C	10: 63,923,931 (GRCm39)	D412G	possibly damaging	Het
Midn	A	C	10: 79,991,027 (GRCm39)	I346L	probably benign	Het
Ndufa10	C	T	1: 92,390,042 (GRCm39)	D259N	probably benign	Het
Nefh	C	A	11: 4,890,985 (GRCm39)	A545S	possibly damaging	Het
Prpf8	A	G	11: 75,399,784 (GRCm39)	Y2281C	probably damaging	Het
Psip1	G	A	4: 83,378,367 (GRCm39)		probably benign	Het
Ptpro	G	T	6: 137,419,705 (GRCm39)	A184S	probably damaging	Het
Rab37	T	A	11: 115,047,853 (GRCm39)	I65K	possibly damaging	Het
Rasgrp4	T	C	7: 28,844,561 (GRCm39)	L247P	probably damaging	Het
Rnf20	T	C	4: 49,644,620 (GRCm39)	V295A	probably damaging	Het
Serpina3g	A	G	12: 104,204,253 (GRCm39)		probably benign	Het
Shox2	A	G	3: 66,881,087 (GRCm39)		probably benign	Het
Skint6	T	G	4: 112,707,937 (GRCm39)	D977A	possibly damaging	Het
Slco1a7	T	A	6: 141,690,188 (GRCm39)	K188N	probably damaging	Het
Smg1	A	T	7: 117,745,294 (GRCm39)	D3008E	possibly damaging	Het
St18	A	G	1: 6,872,840 (GRCm39)	S192G	possibly damaging	Het
Supt20	T	A	3: 54,616,746 (GRCm39)	V306E	probably damaging	Het
T	T	C	17: 8,660,597 (GRCm39)	Y403H	probably damaging	Het
Tars3	C	A	7: 65,333,567 (GRCm39)	N588K	probably benign	Het
Tmem132c	T	C	5: 127,640,907 (GRCm39)	V1026A	probably benign	Het
Trpv4	T	C	5: 114,774,506 (GRCm39)	T193A	probably benign	Het
Ubqln4	A	G	3: 88,470,506 (GRCm39)	N326S	probably damaging	Het
Uggt2	G	A	14: 119,256,898 (GRCm39)	T1112I	probably damaging	Het
Vasn	C	T	16: 4,466,284 (GRCm39)	P77L	probably benign	Het
Vps9d1	A	C	8: 123,974,704 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,415,418 (GRCm39)	Q803K	possibly damaging	Het
Zcchc2	C	T	1: 105,958,430 (GRCm39)	T967I	probably damaging	Het
Zfp874a	G	A	13: 67,590,473 (GRCm39)	L404F	possibly damaging	Het
Zscan30	T	C	18: 24,104,773 (GRCm39)		noncoding transcript	Het

Other mutations in Slc25a23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Slc25a23	APN	17	57,354,233 (GRCm39)	missense	probably benign	0.01
IGL01614:Slc25a23	APN	17	57,352,579 (GRCm39)	missense	probably null	0.98
IGL01919:Slc25a23	APN	17	57,354,291 (GRCm39)	missense	possibly damaging	0.61
IGL01933:Slc25a23	APN	17	57,359,813 (GRCm39)	nonsense	probably null
IGL02297:Slc25a23	APN	17	57,360,324 (GRCm39)	missense	probably benign	0.00
R1317:Slc25a23	UTSW	17	57,360,888 (GRCm39)	missense	possibly damaging	0.63
R1411:Slc25a23	UTSW	17	57,366,622 (GRCm39)	missense	probably damaging	0.97
R1577:Slc25a23	UTSW	17	57,354,306 (GRCm39)	missense	probably benign	0.00
R2156:Slc25a23	UTSW	17	57,352,562 (GRCm39)	missense	probably benign	0.00
R4581:Slc25a23	UTSW	17	57,359,740 (GRCm39)	missense	probably damaging	0.96
R4755:Slc25a23	UTSW	17	57,359,794 (GRCm39)	missense	possibly damaging	0.92
R4786:Slc25a23	UTSW	17	57,354,326 (GRCm39)	missense	possibly damaging	0.68
R4789:Slc25a23	UTSW	17	57,366,597 (GRCm39)	missense	probably damaging	1.00
R5402:Slc25a23	UTSW	17	57,360,336 (GRCm39)	missense	probably benign	0.07
R5478:Slc25a23	UTSW	17	57,359,780 (GRCm39)	missense	probably damaging	1.00
R5659:Slc25a23	UTSW	17	57,352,500 (GRCm39)	unclassified	probably benign
R5787:Slc25a23	UTSW	17	57,360,825 (GRCm39)	missense	probably damaging	1.00
R6417:Slc25a23	UTSW	17	57,359,780 (GRCm39)	missense	probably damaging	0.98
R6420:Slc25a23	UTSW	17	57,359,780 (GRCm39)	missense	probably damaging	0.98
R6462:Slc25a23	UTSW	17	57,359,720 (GRCm39)	missense	probably damaging	1.00
R6830:Slc25a23	UTSW	17	57,360,804 (GRCm39)	nonsense	probably null
R6858:Slc25a23	UTSW	17	57,365,171 (GRCm39)	missense	probably damaging	1.00
R7311:Slc25a23	UTSW	17	57,359,827 (GRCm39)	missense	probably damaging	1.00
R7381:Slc25a23	UTSW	17	57,360,587 (GRCm39)	missense	probably damaging	1.00
R7491:Slc25a23	UTSW	17	57,359,822 (GRCm39)	nonsense	probably null
R7543:Slc25a23	UTSW	17	57,365,106 (GRCm39)	critical splice donor site	probably null
R7646:Slc25a23	UTSW	17	57,366,759 (GRCm39)	unclassified	probably benign
R8879:Slc25a23	UTSW	17	57,366,709 (GRCm39)	unclassified	probably benign
R9042:Slc25a23	UTSW	17	57,352,553 (GRCm39)	missense	probably damaging	1.00
R9076:Slc25a23	UTSW	17	57,354,309 (GRCm39)	missense	probably benign	0.00
R9399:Slc25a23	UTSW	17	57,360,930 (GRCm39)	missense	probably damaging	1.00
X0026:Slc25a23	UTSW	17	57,362,350 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACATTCTCTGCTTGCCACAGTG -3'
(R):5'- TCTGGACCGACTCAAGGTATTC -3'

Sequencing Primer
(F):5'- TTGCCACAGTGCTGACCAG -3'
(R):5'- CCGACTCAAGGTATTCATGCAGG -3'

Posted On

2016-09-01