Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Slc25a23'

676800

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8879 (G1)

Quality Score

106.008

Status

Validated

Chromosome

Chromosomal Location

57043711-57059863 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 57059709 bp (GRCm38)

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704		probably benign	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	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
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'- ATAGTACCTGCTGTGCACG -3'
(R):5'- GATGTGCAAAACCAGAGCC -3'

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

Posted On

2021-07-15