Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Slc25a23'

343711

Institutional Source

Beutler Lab

Gene Symbol

Slc25a23

Ensembl Gene

ENSMUSG00000046329

Gene Name

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

Synonyms

MMRRC Submission

041802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57043711-57059863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57052740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 337 (Y337F)

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: Y337F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: Y337F

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

unknown
Transcript: ENSMUST00000163442
AA Change: Y28F

SMART Domains

Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329
AA Change: Y28F

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: Y136F

SMART Domains

Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: Y136F

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
AA Change: Y85F

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329
AA Change: Y85F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,171,798	P20T	possibly damaging	Het
3425401B19Rik	G	T	14: 32,661,871	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,860,353	D20G	possibly damaging	Het
Abca7	A	G	10: 80,006,568	D1112G	probably benign	Het
Actc1	G	T	2: 114,049,608	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,202,531	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,283,120	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,021	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,732,124	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,711,025	I991T	probably damaging	Het
Cacna1s	T	A	1: 136,070,970		probably null	Het
Camk1d	A	T	2: 5,354,704	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,783	I110N	probably damaging	Het
Cenpe	A	G	3: 135,247,000	K1484E	probably benign	Het
Cep68	A	G	11: 20,239,333	S560P	probably benign	Het
Cog3	G	T	14: 75,732,951	T352K	probably benign	Het
Cox6a2	A	G	7: 128,205,980	S44P	possibly damaging	Het
Csmd2	T	C	4: 128,369,088	V689A	probably benign	Het
Ddx60	A	T	8: 62,023,261	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 149,016,984		silent	Het
Dlgap2	T	C	8: 14,846,679	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,184,685	D502E	probably damaging	Het
Efhb	C	A	17: 53,426,275	A523S	probably damaging	Het
Epha8	C	T	4: 136,933,464	V648M	probably damaging	Het
Fanca	C	T	8: 123,274,338		probably null	Het
Fbxw7	G	A	3: 84,967,545	E205K	probably benign	Het
Fer1l6	C	T	15: 58,640,226	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,416,683	E112G	probably damaging	Het
Gm7535	T	C	17: 17,911,083		probably benign	Het
Irf2bp2	T	A	8: 126,591,255	Q524L	probably damaging	Het
Itih4	A	G	14: 30,900,968	D864G	probably benign	Het
Kdm4c	T	G	4: 74,357,339		probably null	Het
Ltn1	A	T	16: 87,402,024		probably null	Het
Mafa	G	T	15: 75,747,736	P63T	unknown	Het
Mars2	T	A	1: 55,237,862	L208H	probably damaging	Het
Myom2	A	G	8: 15,106,459	I769V	probably benign	Het
Nyap1	A	G	5: 137,736,022	S250P	probably damaging	Het
Olfr1082	A	T	2: 86,594,228	M200K	probably benign	Het
Osmr	C	T	15: 6,842,894	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,676,881	T796A	probably benign	Het
Pclo	T	C	5: 14,675,505	V1459A	unknown	Het
Phactr3	A	C	2: 178,283,172	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,548,224	W48R	probably damaging	Het
Prdm16	A	G	4: 154,323,353	S1140P	probably damaging	Het
Rarg	A	C	15: 102,252,551	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,844,300	S114T	possibly damaging	Het
Sec14l4	G	A	11: 4,043,375		probably null	Het
Six1	T	G	12: 73,045,934	T165P	probably benign	Het
Skint4	T	C	4: 112,087,042	L17P	probably damaging	Het
Slc9a3	A	G	13: 74,164,165	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401		probably null	Het
Spryd3	A	G	15: 102,130,364	S141P	probably damaging	Het
Src	A	T	2: 157,463,038	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310		probably benign	Het
Stc2	A	G	11: 31,365,326		probably null	Het
Taf6l	T	C	19: 8,778,208	D261G	probably damaging	Het
Tal1	T	G	4: 115,064,722	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,125	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,697,230	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trappc11	A	T	8: 47,493,345	M1084K	probably damaging	Het
Trem3	A	C	17: 48,249,611	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Urb1	T	C	16: 90,788,146	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,801,704	T426S	probably benign	Het
Yipf4	T	C	17: 74,499,094	Y243H	probably benign	Het
Zfp574	T	A	7: 25,081,313	C587S	probably damaging	Het
Zfp93	C	A	7: 24,275,668	H359Q	probably damaging	Het
Znfx1	T	C	2: 167,050,316	E660G	probably damaging	Het

Other mutations in Slc25a23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Slc25a23	APN	17	57047233	missense	probably benign	0.01
IGL01614:Slc25a23	APN	17	57045579	missense	probably null	0.98
IGL01919:Slc25a23	APN	17	57047291	missense	possibly damaging	0.61
IGL01933:Slc25a23	APN	17	57052813	nonsense	probably null
IGL02297:Slc25a23	APN	17	57053324	missense	probably benign	0.00
R1317:Slc25a23	UTSW	17	57053888	missense	possibly damaging	0.63
R1411:Slc25a23	UTSW	17	57059622	missense	probably damaging	0.97
R1577:Slc25a23	UTSW	17	57047306	missense	probably benign	0.00
R2156:Slc25a23	UTSW	17	57045562	missense	probably benign	0.00
R4755:Slc25a23	UTSW	17	57052794	missense	possibly damaging	0.92
R4786:Slc25a23	UTSW	17	57047326	missense	possibly damaging	0.68
R4789:Slc25a23	UTSW	17	57059597	missense	probably damaging	1.00
R5402:Slc25a23	UTSW	17	57053336	missense	probably benign	0.07
R5423:Slc25a23	UTSW	17	57053597	missense	probably damaging	0.99
R5478:Slc25a23	UTSW	17	57052780	missense	probably damaging	1.00
R5659:Slc25a23	UTSW	17	57045500	unclassified	probably benign
R5787:Slc25a23	UTSW	17	57053825	missense	probably damaging	1.00
R6417:Slc25a23	UTSW	17	57052780	missense	probably damaging	0.98
R6420:Slc25a23	UTSW	17	57052780	missense	probably damaging	0.98
R6462:Slc25a23	UTSW	17	57052720	missense	probably damaging	1.00
R6830:Slc25a23	UTSW	17	57053804	nonsense	probably null
R6858:Slc25a23	UTSW	17	57058171	missense	probably damaging	1.00
R7311:Slc25a23	UTSW	17	57052827	missense	probably damaging	1.00
R7381:Slc25a23	UTSW	17	57053587	missense	probably damaging	1.00
R7491:Slc25a23	UTSW	17	57052822	nonsense	probably null
R7543:Slc25a23	UTSW	17	57058106	critical splice donor site	probably null
R7646:Slc25a23	UTSW	17	57059759	unclassified	probably benign
R8879:Slc25a23	UTSW	17	57059709	unclassified	probably benign
R9042:Slc25a23	UTSW	17	57045553	missense	probably damaging	1.00
R9076:Slc25a23	UTSW	17	57047309	missense	probably benign	0.00
R9399:Slc25a23	UTSW	17	57053930	missense	probably damaging	1.00
X0026:Slc25a23	UTSW	17	57055350	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGGGTTCCAAGACCCAACATAG -3'
(R):5'- ACATCTGCTTTCAGGAGTAGC -3'

Sequencing Primer
(F):5'- GGGTTCCAAGACCCAACATAGTTTTC -3'
(R):5'- AGTAGCCACTTCTAGGTGATGTCAC -3'

Posted On

2015-09-24