Mutagenetix > Incidental Mutation

Incidental Mutation 'R3889:Slc25a45'

310218

Institutional Source

Beutler Lab

Gene Symbol

Slc25a45

Ensembl Gene

ENSMUSG00000024818

Gene Name

solute carrier family 25, member 45

Synonyms

MMRRC Submission

040801-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3889 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

5927828-5935796 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 5930661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025732] [ENSMUST00000125114] [ENSMUST00000136833] [ENSMUST00000145200] [ENSMUST00000155697]

AlphaFold

Q8CFJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000025732

SMART Domains

Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	87	1.2e-20	PFAM
Pfam:Mito_carr	95	195	6.9e-22	PFAM
Pfam:Mito_carr	197	288	7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125114

SMART Domains

Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	87	4.7e-22	PFAM
Pfam:Mito_carr	95	195	3.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136833

SMART Domains

Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	102	2.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141362

SMART Domains

Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	70	3.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145200

SMART Domains

Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Mito_carr	37	137	5.1e-23	PFAM
Pfam:Mito_carr	139	195	4.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155697

SMART Domains

Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	87	8.9e-22	PFAM
Pfam:Mito_carr	95	195	6.8e-23	PFAM
Pfam:Mito_carr	197	288	2.4e-23	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

94% (51/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
7530416G11Rik	A	G	15: 85,378,292 (GRCm39)	F117S	unknown	Het
Adamts5	A	G	16: 85,665,009 (GRCm39)	W652R	probably damaging	Het
Adamtsl4	G	T	3: 95,588,167 (GRCm39)	Q607K	probably damaging	Het
Atm	T	C	9: 53,417,936 (GRCm39)		probably benign	Het
Atp6v0a2	G	A	5: 124,777,203 (GRCm39)	R168Q	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Baiap2l1	T	C	5: 144,215,345 (GRCm39)	T387A	possibly damaging	Het
Cct3	A	T	3: 88,228,334 (GRCm39)	Q472L	probably benign	Het
Chd3	C	T	11: 69,250,011 (GRCm39)	E623K	probably damaging	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
Dclre1a	A	T	19: 56,533,752 (GRCm39)	C263S	probably benign	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Eif2ak1	A	T	5: 143,821,479 (GRCm39)	Q265L	probably benign	Het
Elp1	G	A	4: 56,759,852 (GRCm39)	R1138C	probably damaging	Het
Epha3	A	G	16: 63,431,327 (GRCm39)	F526L	probably damaging	Het
Etl4	C	T	2: 20,534,772 (GRCm39)	Q76*	probably null	Het
Fat2	C	A	11: 55,172,589 (GRCm39)	G2708V	probably damaging	Het
Fgd6	G	A	10: 93,925,499 (GRCm39)	E853K	probably damaging	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Fsd1	A	G	17: 56,300,893 (GRCm39)	K251E	probably benign	Het
Gjc3	T	A	5: 137,956,105 (GRCm39)	N60I	possibly damaging	Het
Gpc5	T	C	14: 115,607,472 (GRCm39)	M358T	probably benign	Het
H6pd	T	A	4: 150,080,230 (GRCm39)	Y197F	possibly damaging	Het
Hip1r	C	T	5: 124,139,854 (GRCm39)	R986*	probably null	Het
Igkv9-120	A	G	6: 68,027,362 (GRCm39)	D92G	probably damaging	Het
Il6	A	G	5: 30,223,066 (GRCm39)	K128E	possibly damaging	Het
Irf4	T	C	13: 30,945,473 (GRCm39)		probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Ltbp2	A	G	12: 84,831,681 (GRCm39)		probably benign	Het
Pcmt1	C	T	10: 7,524,814 (GRCm39)		probably null	Het
Plekhm2	C	T	4: 141,369,301 (GRCm39)		probably benign	Het
Prkca	C	T	11: 107,870,066 (GRCm39)	G450R	probably damaging	Het
Psme3	C	A	11: 101,210,282 (GRCm39)	P82T	probably damaging	Het
Rgs11	T	C	17: 26,426,561 (GRCm39)	I262T	probably damaging	Het
Rreb1	G	T	13: 38,077,941 (GRCm39)	R51L	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpina1e	A	T	12: 103,917,132 (GRCm39)	V179E	probably damaging	Het
Sgo2b	T	C	8: 64,380,777 (GRCm39)	Q685R	possibly damaging	Het
Slc15a2	A	G	16: 36,602,666 (GRCm39)	F65S	probably damaging	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Spen	A	G	4: 141,205,192 (GRCm39)	V1145A	unknown	Het
Stub1	T	C	17: 26,050,276 (GRCm39)		probably benign	Het
Taar8a	A	G	10: 23,952,923 (GRCm39)	I176V	probably benign	Het
Tacr2	G	A	10: 62,100,865 (GRCm39)	C325Y	probably damaging	Het
Tbc1d17	T	A	7: 44,495,362 (GRCm39)	H154L	probably damaging	Het
Tll1	A	T	8: 64,658,258 (GRCm39)	C54S	possibly damaging	Het
Tpsb2	G	A	17: 25,586,457 (GRCm39)	V181I	probably damaging	Het
Trak1	A	G	9: 121,274,939 (GRCm39)	N146S	probably null	Het
Vmn1r177	T	C	7: 23,565,289 (GRCm39)	I196V	possibly damaging	Het
Zfp820	T	C	17: 22,037,877 (GRCm39)	I484V	probably benign	Het

Other mutations in Slc25a45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02523:Slc25a45	APN	19	5,934,637 (GRCm39)	splice site	probably null
IGL02620:Slc25a45	APN	19	5,934,554 (GRCm39)	missense	probably damaging	1.00
IGL02622:Slc25a45	APN	19	5,928,725 (GRCm39)	splice site	probably benign
R0055:Slc25a45	UTSW	19	5,930,495 (GRCm39)	missense	probably damaging	1.00
R0055:Slc25a45	UTSW	19	5,930,495 (GRCm39)	missense	probably damaging	1.00
R0630:Slc25a45	UTSW	19	5,930,556 (GRCm39)	missense	probably damaging	1.00
R1464:Slc25a45	UTSW	19	5,929,928 (GRCm39)	splice site	probably benign
R1764:Slc25a45	UTSW	19	5,934,958 (GRCm39)	missense	probably damaging	1.00
R1902:Slc25a45	UTSW	19	5,934,550 (GRCm39)	missense	probably damaging	1.00
R2372:Slc25a45	UTSW	19	5,934,580 (GRCm39)	missense	probably benign	0.00
R3547:Slc25a45	UTSW	19	5,934,574 (GRCm39)	missense	probably damaging	1.00
R4173:Slc25a45	UTSW	19	5,930,611 (GRCm39)	nonsense	probably null
R4222:Slc25a45	UTSW	19	5,930,146 (GRCm39)	missense	probably damaging	1.00
R4223:Slc25a45	UTSW	19	5,930,146 (GRCm39)	missense	probably damaging	1.00
R4225:Slc25a45	UTSW	19	5,930,146 (GRCm39)	missense	probably damaging	1.00
R4598:Slc25a45	UTSW	19	5,934,464 (GRCm39)	missense	probably damaging	1.00
R4998:Slc25a45	UTSW	19	5,934,945 (GRCm39)	missense	probably damaging	1.00
R5063:Slc25a45	UTSW	19	5,934,490 (GRCm39)	missense	possibly damaging	0.89
R5711:Slc25a45	UTSW	19	5,934,451 (GRCm39)	missense	probably benign
R6693:Slc25a45	UTSW	19	5,930,162 (GRCm39)	missense	possibly damaging	0.63
R7486:Slc25a45	UTSW	19	5,934,997 (GRCm39)	missense	probably damaging	0.96
R8437:Slc25a45	UTSW	19	5,930,135 (GRCm39)	missense	probably benign	0.06
R9415:Slc25a45	UTSW	19	5,934,967 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc25a45	UTSW	19	5,934,460 (GRCm39)	missense	probably damaging	0.99
Z1177:Slc25a45	UTSW	19	5,930,207 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AATGAGTTTCCCCATCGCCAG -3'
(R):5'- ATTGACTGCTTCTGCCTGGC -3'

Sequencing Primer
(F):5'- AGTGTAGCCCTGGTCAACTC -3'
(R):5'- GGCATCTTCTTCACACTGACC -3'

Posted On

2015-04-17