Mutagenetix > Incidental Mutation

Incidental Mutation 'R9076:Slc25a23'

689824

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57043711-57059863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57047309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 366 (Y366H)

Ref Sequence

ENSEMBL: ENSMUSP00000040198 (fasta)

Gene Model

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

AlphaFold

Q6GQS1

Predicted Effect

probably benign
Transcript: ENSMUST00000040280
AA Change: Y366H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: Y366H

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

SMART Domains

Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329
AA Change: Y57H

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

SMART Domains

Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: Y165H

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: Y114H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329
AA Change: Y114H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	A	8: 88,327,708	G1064R	probably damaging	Het
Adcy9	A	G	16: 4,288,823	V1046A	probably damaging	Het
Adgrv1	C	T	13: 81,422,128		probably null	Het
Apbb2	A	C	5: 66,312,164	L554W	probably damaging	Het
Arhgef10	C	T	8: 14,974,993	P722S	probably damaging	Het
Capns1	A	C	7: 30,194,085	M1R	probably null	Het
Chst1	C	T	2: 92,613,416	Q78*	probably null	Het
Clec12b	A	G	6: 129,379,617	S195P	possibly damaging	Het
Cog8	C	T	8: 107,052,576	M356I	probably damaging	Het
Cyp4b1	T	C	4: 115,625,227	N452D	probably damaging	Het
Defb40	A	T	8: 18,974,978	Y71N	probably benign	Het
Dhx8	G	T	11: 101,738,195	R190L		Het
Disp1	G	A	1: 183,087,235	T1207M	possibly damaging	Het
Dnah9	T	A	11: 66,117,638	Y787F	probably benign	Het
Egflam	T	C	15: 7,207,674	N1010D	probably damaging	Het
Fam151a	T	A	4: 106,746,057	Y272N	probably damaging	Het
Fat1	T	C	8: 45,039,901	Y3887H	probably damaging	Het
Fpr3	T	A	17: 17,971,463	I332N	probably benign	Het
Frmd4a	G	T	2: 4,603,954	G878W	probably damaging	Het
Fv1	T	C	4: 147,869,171	Y65H	possibly damaging	Het
Gabra6	G	A	11: 42,307,462	A387V	probably benign	Het
Gm34653	A	T	2: 34,839,197	Y336F	probably damaging	Het
Gna11	T	C	10: 81,530,881	T332A		Het
Gpr161	T	A	1: 165,306,188	H6Q	possibly damaging	Het
Grin2b	CA	C	6: 135,732,511		probably null	Het
Heatr3	A	T	8: 88,150,199	M290L	probably benign	Het
Ifi47	T	G	11: 49,096,015	I203R	probably benign	Het
Ighv5-8	TATACAT	TAT	12: 113,654,963		probably benign	Het
Klhl10	A	G	11: 100,447,136	M234V	possibly damaging	Het
Klra4	A	G	6: 130,062,144	I95T	possibly damaging	Het
Krt84	A	G	15: 101,529,663	F286L	probably damaging	Het
Lrp2	A	G	2: 69,519,916	V704A	probably benign	Het
Lypd6b	A	T	2: 49,947,522	S169C	possibly damaging	Het
Mapk12	T	C	15: 89,140,408	E22G	probably benign	Het
Ncapg	T	C	5: 45,676,641	C340R	probably benign	Het
Ncor2	A	G	5: 125,034,022	L394P		Het
Nek1	T	G	8: 61,028,734	S228A	probably damaging	Het
Olfr1224-ps1	C	T	2: 89,156,375	E267K	possibly damaging	Het
Olfr314	T	A	11: 58,786,733	F166L	possibly damaging	Het
Olfr320	T	C	11: 58,683,896	C8R	probably benign	Het
Olfr329-ps	A	T	11: 58,542,956	C186*	probably null	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Pcdha8	C	A	18: 36,993,232	P256T	possibly damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Ptprn	A	T	1: 75,252,374	M799K	probably damaging	Het
Rhpn2	A	T	7: 35,384,048		probably benign	Het
Sae1	A	G	7: 16,336,743	F281L	probably benign	Het
Slc25a25	G	T	2: 32,419,163	T222K	probably damaging	Het
Smarca2	T	A	19: 26,682,052	F914Y	possibly damaging	Het
Spef2	C	A	15: 9,653,005	V897L	probably benign	Het
Spon2	C	A	5: 33,216,710	E110*	probably null	Het
Sstr2	A	G	11: 113,624,351	N32S	probably benign	Het
Stk4	T	C	2: 164,118,065	V415A	probably benign	Het
Tcaf1	T	G	6: 42,677,438	T607P	probably benign	Het
Ush1c	C	A	7: 46,201,056	L766F	probably damaging	Het
Usp9y	T	C	Y: 1,383,354	I795V	probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn2r53	A	G	7: 12,606,304	S81P	probably damaging	Het
Vps45	A	G	3: 96,053,033		probably benign	Het
Wdr6	A	G	9: 108,574,428	V752A	probably benign	Het
Xkr4	G	A	1: 3,216,135	R611*	probably null	Het
Zc3h6	T	G	2: 129,017,176	Y1042*	probably null	Het
Zfp236	A	G	18: 82,620,344	S1384P	possibly damaging	Het
Zfp800	A	T	6: 28,243,216	N583K	probably benign	Het
Zpld1	T	C	16: 55,241,401	S206G	probably benign	Het
Zxdc	T	A	6: 90,372,839	S372R	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
R4581:Slc25a23	UTSW	17	57052740	missense	probably damaging	0.96
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
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'- AAGTGGCTGGCTTTCCTAC -3'
(R):5'- ATCCTCCAGTGAAGGTTCGG -3'

Sequencing Primer
(F):5'- GGCTGGCTTTCCTACCCCAG -3'
(R):5'- TTTCCTAGAATCCCCCAATGGAGG -3'

Posted On

2021-11-19