Mutagenetix > Incidental Mutation

Incidental Mutation 'R7646:Slc25a23'

590570

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

045724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7646 (G1)

Quality Score

97.0294

Status

Validated

Chromosome

Chromosomal Location

57350711-57366863 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 57366759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040280] [ENSMUST00000071826] [ENSMUST00000097299] [ENSMUST00000163628] [ENSMUST00000163763] [ENSMUST00000169543]

AlphaFold

Q6GQS1

Predicted Effect

probably benign
Transcript: ENSMUST00000040280

SMART Domains

Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329

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: ENSMUST00000071826

SMART Domains

Protein: ENSMUSP00000071729
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097299

SMART Domains

Protein: ENSMUSP00000094902
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163628

SMART Domains

Protein: ENSMUSP00000126402
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SCOP:d1fwxa1	30	52	5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163763

SMART Domains

Protein: ENSMUSP00000132502
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169543

SMART Domains

Protein: ENSMUSP00000125760
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171128

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,113,937 (GRCm39)	H936R	probably benign	Het
Afg3l1	C	A	8: 124,219,766 (GRCm39)	D431E	possibly damaging	Het
Agrn	T	C	4: 156,279,811 (GRCm39)	N120S	probably damaging	Het
Apob	A	G	12: 8,059,189 (GRCm39)	D2557G	probably damaging	Het
Atl2	A	G	17: 80,162,036 (GRCm39)	Y359H	probably damaging	Het
Banp	T	C	8: 122,750,775 (GRCm39)	S489P	possibly damaging	Het
Cage1	A	G	13: 38,206,823 (GRCm39)	C341R	probably damaging	Het
Cdh23	T	C	10: 60,140,931 (GRCm39)	N3139S	possibly damaging	Het
Chd2	G	T	7: 73,085,521 (GRCm39)	S1704R	possibly damaging	Het
Col4a2	T	A	8: 11,495,086 (GRCm39)	F1515I	probably benign	Het
Crocc	T	A	4: 140,748,966 (GRCm39)	Q1613L	probably null	Het
Cttnbp2	A	T	6: 18,375,939 (GRCm39)	S1533R	probably damaging	Het
Dlgap5	C	T	14: 47,636,976 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,868,651 (GRCm39)	D362N	probably benign	Het
Elf5	G	T	2: 103,269,588 (GRCm39)	K56N	probably benign	Het
Emsy	G	A	7: 98,268,560 (GRCm39)	P508S	probably damaging	Het
Fam135a	T	C	1: 24,067,704 (GRCm39)	H1055R	probably benign	Het
Fh1	C	T	1: 175,442,479 (GRCm39)	V124I	probably benign	Het
Gbf1	T	A	19: 46,272,111 (GRCm39)	D1610E	probably damaging	Het
Glp1r	A	G	17: 31,155,257 (GRCm39)	K415E	probably benign	Het
Glyr1	T	C	16: 4,836,361 (GRCm39)	D496G	probably damaging	Het
Herc2	A	G	7: 55,784,361 (GRCm39)	I1342V	probably benign	Het
Hoxa7	A	G	6: 52,192,699 (GRCm39)	*230Q	probably null	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Ildr1	T	A	16: 36,542,281 (GRCm39)	M271K	possibly damaging	Het
Klk1b22	T	G	7: 43,765,542 (GRCm39)		probably null	Het
Lig3	T	A	11: 82,674,304 (GRCm39)	N43K	probably benign	Het
Mcmdc2	A	G	1: 9,982,360 (GRCm39)	T83A	possibly damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,298,498 (GRCm39)	S2179T	possibly damaging	Het
Mrpl38	G	A	11: 116,023,593 (GRCm39)	S282L	probably damaging	Het
Ndst2	A	G	14: 20,774,527 (GRCm39)		probably null	Het
Nlrp4a	C	G	7: 26,148,987 (GRCm39)	A198G	probably damaging	Het
Nup98	A	C	7: 101,803,242 (GRCm39)	S653A	probably benign	Het
Or12e8	A	G	2: 87,188,102 (GRCm39)	I105V	probably benign	Het
Or13a27	A	G	7: 139,925,864 (GRCm39)	F13L	probably damaging	Het
Or14j10	G	T	17: 37,935,295 (GRCm39)	T77K	probably damaging	Het
Or51ai2	G	A	7: 103,587,504 (GRCm39)	A306T	probably damaging	Het
Or8k37	C	A	2: 86,469,513 (GRCm39)	D180Y	probably damaging	Het
Pclo	A	T	5: 14,570,909 (GRCm39)	D98V	probably damaging	Het
Peg3	A	T	7: 6,712,221 (GRCm39)	D1000E	probably benign	Het
Polr3h	A	G	15: 81,801,571 (GRCm39)	Y131H	probably damaging	Het
Rapgef6	A	G	11: 54,516,780 (GRCm39)	I346V	probably benign	Het
Rufy1	T	A	11: 50,301,436 (GRCm39)	K332M	probably damaging	Het
Scn1a	T	C	2: 66,118,102 (GRCm39)	M404V	possibly damaging	Het
Septin8	T	A	11: 53,428,744 (GRCm39)		probably null	Het
Sesn3	A	G	9: 14,219,911 (GRCm39)	D100G	probably damaging	Het
Setx	A	G	2: 29,067,561 (GRCm39)	I2388V	possibly damaging	Het
Skint5	T	A	4: 113,620,739 (GRCm39)		probably null	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slco3a1	G	A	7: 74,154,344 (GRCm39)	A76V	probably damaging	Het
Stradb	A	T	1: 59,033,567 (GRCm39)	D410V	probably benign	Het
Syne1	T	C	10: 5,122,949 (GRCm39)	D329G	probably damaging	Het
Syt4	A	C	18: 31,574,658 (GRCm39)	S320A	possibly damaging	Het
Tnfsf4	A	G	1: 161,244,733 (GRCm39)	T141A	possibly damaging	Het
Trim34b	G	A	7: 103,984,559 (GRCm39)	A279T	probably damaging	Het
Trpm6	A	T	19: 18,845,325 (GRCm39)	D1675V	probably benign	Het
Vmn2r24	T	A	6: 123,793,169 (GRCm39)	M832K	probably benign	Het
Wdr90	A	G	17: 26,079,104 (GRCm39)	V246A	probably benign	Het
Xkr6	G	T	14: 63,844,423 (GRCm39)	D149Y	probably damaging	Het
Zfp108	A	G	7: 23,960,840 (GRCm39)	Y477C	probably damaging	Het
Zfp37	T	G	4: 62,109,532 (GRCm39)	I552L	probably damaging	Het
Zfp426	A	T	9: 20,381,320 (GRCm39)	S556T	probably damaging	Het
Zfp954	G	A	7: 7,118,720 (GRCm39)	L275F	possibly damaging	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
R5423:Slc25a23	UTSW	17	57,360,597 (GRCm39)	missense	probably damaging	0.99
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
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'- ATAGTACCTGCTGTGCACG -3'
(R):5'- ACCAGAGCCTCCTAGAATGC -3'

Sequencing Primer
(F):5'- TGTGCACGGTCCGGATCTC -3'
(R):5'- AGAGCCTCCTAGAATGCTTCCC -3'

Posted On

2019-10-24