Mutagenetix > Incidental Mutation

Incidental Mutation 'R9042:Slc25a23'

687802

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 #

R9042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57043711-57059863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57045553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 444 (V444I)

Ref Sequence

ENSEMBL: ENSMUSP00000040198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040280] [ENSMUST00000058661] [ENSMUST00000169012] [ENSMUST00000171528]

AlphaFold

Q6GQS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000040280
AA Change: V444I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: V444I

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: ENSMUST00000058661

SMART Domains

Protein: ENSMUSP00000058877
Gene: ENSMUSG00000011486

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	25	118	4.5e-22	PFAM
Pfam:Mito_carr	119	210	7.8e-21	PFAM
Pfam:Mito_carr	215	308	2.1e-19	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329
AA Change: G127D

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

probably benign
Transcript: ENSMUST00000169012

SMART Domains

Protein: ENSMUSP00000130857
Gene: ENSMUSG00000011486

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	11	104	3.7e-24	PFAM
Pfam:Mito_carr	105	197	3.5e-22	PFAM
Pfam:Mito_carr	201	294	4e-19	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: V243I

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

0.6346

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,287,351	I3275T	probably benign	Het
Adamts12	A	G	15: 11,152,048	K208R	probably benign	Het
Amh	T	C	10: 80,806,609	M242T	possibly damaging	Het
Anpep	T	C	7: 79,838,762	Y440C	probably damaging	Het
Atf7ip	G	T	6: 136,561,265	E499*	probably null	Het
Clasp2	A	G	9: 113,905,997	I967V	probably benign	Het
Cpa6	T	C	1: 10,337,290	T341A	probably benign	Het
Cyp26b1	T	A	6: 84,576,608	Y263F	probably benign	Het
Ecm2	C	A	13: 49,528,963	Y489*	probably null	Het
Gm597	T	C	1: 28,776,956	Q665R	possibly damaging	Het
Gpr22	C	A	12: 31,709,854	V90L	probably benign	Het
Grip1	G	A	10: 120,000,533	V516M	probably benign	Het
Ipo5	C	T	14: 120,923,135	S188L	probably benign	Het
Kcnh6	T	A	11: 106,017,638	I360N	possibly damaging	Het
Lrp1b	C	A	2: 41,502,017	D512Y		Het
Lrpprc	C	T	17: 84,752,308		probably null	Het
Lta4h	A	G	10: 93,482,988	K547R	probably benign	Het
Nacad	G	C	11: 6,598,948	P1340R	possibly damaging	Het
Ncapd2	T	C	6: 125,179,338	K495E	probably benign	Het
Ndufaf7	A	T	17: 78,938,539		probably null	Het
Nsrp1	A	G	11: 77,050,651	V77A	probably benign	Het
Olfr1087	T	C	2: 86,690,795	Y60C	probably damaging	Het
Olfr161	A	T	16: 3,593,268	S291C	probably damaging	Het
P2ry12	A	G	3: 59,218,035	V73A	probably damaging	Het
Pafah1b1	G	A	11: 74,683,667	T231I	probably benign	Het
Parp11	C	A	6: 127,471,652	Y77*	probably null	Het
Phc3	T	A	3: 30,929,767	T712S	unknown	Het
Pkm	T	A	9: 59,671,937	I335N	probably damaging	Het
Pmpca	A	G	2: 26,393,569	T417A	probably benign	Het
Pot1b	C	T	17: 55,699,991		probably null	Het
Prrc1	T	A	18: 57,374,692		probably null	Het
Psg18	A	T	7: 18,349,122	N369K	probably benign	Het
Pum3	T	A	19: 27,422,391	Y214F	probably damaging	Het
Reln	G	A	5: 22,048,038	T637M	probably damaging	Het
Rpe65	A	T	3: 159,615,655	Y368F	probably damaging	Het
Serpina3a	A	G	12: 104,116,103	D45G	probably benign	Het
Serpinb3c	T	A	1: 107,272,001	L263F	probably damaging	Het
Slc40a1	C	T	1: 45,909,461	G553D	probably benign	Het
Taf7	C	A	18: 37,643,170	D115Y	probably damaging	Het
Tanc1	G	C	2: 59,843,422	A1624P	probably benign	Het
Tmed4	T	C	11: 6,274,405	D85G	probably benign	Het
Tmed6	A	G	8: 107,063,753	V138A	probably benign	Het
Tmem63b	T	C	17: 45,666,591	T370A	probably benign	Het
Ttc38	A	G	15: 85,836,109	T91A	probably benign	Het
Ube4b	C	G	4: 149,360,376	A476P	probably benign	Het
Vmn2r53	A	G	7: 12,581,508	C795R	probably benign	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
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'- TACCATGGTCAGGACACAGG -3'
(R):5'- TCAGCCCTAGGATGAGGTAG -3'

Sequencing Primer
(F):5'- GGTTAGGATCCACTGGTCAGGC -3'
(R):5'- CCCTAGGATGAGGTAGGAGGG -3'

Posted On

2021-11-19