Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02622:Slc25a45'

300934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a45

Ensembl Gene

ENSMUSG00000024818

Gene Name

solute carrier family 25, member 45

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02622

Quality Score

Status

Chromosome

Chromosomal Location

5927828-5935796 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 5928725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025728] [ENSMUST00000025732] [ENSMUST00000125114] [ENSMUST00000136833] [ENSMUST00000145200] [ENSMUST00000155227] [ENSMUST00000155697]

AlphaFold

Q8CFJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000025728

SMART Domains

Protein: ENSMUSP00000025728
Gene: ENSMUSG00000024816

Domain	Start	End	E-Value	Type
B41	26	273	9.58e-4	SMART
low complexity region	383	398	N/A	INTRINSIC

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: ENSMUST00000155227

SMART Domains

Protein: ENSMUSP00000116453
Gene: ENSMUSG00000024816

Domain	Start	End	E-Value	Type
low complexity region	16	32	N/A	INTRINSIC
Pfam:FERM_M	136	202	9.6e-10	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

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,887,101 (GRCm39)	V32M	possibly damaging	Het
Abca1	T	C	4: 53,034,046 (GRCm39)	D2228G	probably damaging	Het
Actr5	A	G	2: 158,480,728 (GRCm39)	K582R	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,518,454 (GRCm39)	D128G	possibly damaging	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Cep112	A	G	11: 108,409,509 (GRCm39)	H133R	probably benign	Het
Cops3	C	T	11: 59,723,864 (GRCm39)	D98N	probably benign	Het
Crlf3	T	C	11: 79,950,150 (GRCm39)	D160G	probably damaging	Het
Csn1s1	T	C	5: 87,825,501 (GRCm39)		probably null	Het
Ddx60	C	A	8: 62,395,470 (GRCm39)		probably null	Het
Depdc1a	T	A	3: 159,221,147 (GRCm39)	N159K	probably benign	Het
Dsg3	A	T	18: 20,662,004 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,824,677 (GRCm39)		probably benign	Het
Ercc6l2	T	A	13: 64,001,437 (GRCm39)		probably null	Het
Fbxw19	T	A	9: 109,322,602 (GRCm39)	M123L	probably benign	Het
Fus	T	A	7: 127,584,794 (GRCm39)	L100H	probably damaging	Het
Gm29247	A	G	1: 44,146,269 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,115,857 (GRCm39)	T842A	probably damaging	Het
Inpp4a	A	T	1: 37,418,115 (GRCm39)	Q519L	probably benign	Het
Kcnip1	C	A	11: 33,593,290 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,855,975 (GRCm39)	L2432H	probably damaging	Het
Mastl	A	G	2: 23,022,857 (GRCm39)	V622A	probably benign	Het
Myh15	A	G	16: 48,997,317 (GRCm39)	T1712A	probably benign	Het
Nlrp1a	T	C	11: 71,013,826 (GRCm39)	T475A	possibly damaging	Het
Nr4a3	G	A	4: 48,051,649 (GRCm39)	M134I	probably benign	Het
Or2a56	T	G	6: 42,932,663 (GRCm39)	V77G	probably damaging	Het
Or52m1	T	A	7: 102,290,290 (GRCm39)	L279Q	probably damaging	Het
Or5p60	T	A	7: 107,723,595 (GRCm39)	I292F	probably damaging	Het
Paqr6	T	G	3: 88,273,085 (GRCm39)	I52S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,721 (GRCm39)	L677Q	probably benign	Het
Phax	C	T	18: 56,717,372 (GRCm39)	R250*	probably null	Het
Pkn3	A	G	2: 29,973,158 (GRCm39)	D356G	probably benign	Het
Pnpla2	T	C	7: 141,035,285 (GRCm39)	L29P	probably damaging	Het
Rad18	G	A	6: 112,664,948 (GRCm39)	T62I	probably damaging	Het
Riok3	C	T	18: 12,276,017 (GRCm39)	R238C	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sccpdh	G	T	1: 179,504,025 (GRCm39)	G125W	probably damaging	Het
Skint11	T	A	4: 114,051,925 (GRCm39)	L91H	probably damaging	Het
Slco2a1	C	T	9: 102,954,128 (GRCm39)	Q370*	probably null	Het
Szt2	A	G	4: 118,250,087 (GRCm39)	S474P	probably damaging	Het
Tchh	C	A	3: 93,350,719 (GRCm39)	T53K	probably damaging	Het
Tiam1	T	C	16: 89,595,588 (GRCm39)	T1298A	possibly damaging	Het
Tmem161a	C	T	8: 70,633,887 (GRCm39)	Q183*	probably null	Het
Trim26	C	A	17: 37,161,797 (GRCm39)	A72E	probably damaging	Het
Trmt11	A	T	10: 30,435,169 (GRCm39)	I330K	probably benign	Het
Tspan1	A	G	4: 116,021,052 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,194,561 (GRCm39)	C4286*	probably null	Het
Unc13a	T	C	8: 72,105,158 (GRCm39)		probably null	Het
Vmn1r20	T	A	6: 57,409,583 (GRCm39)	F303Y	probably damaging	Het
Washc2	T	C	6: 116,190,979 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,661,699 (GRCm39)	D585N	probably benign	Het
Ythdc2	C	T	18: 44,993,001 (GRCm39)	L791F	probably damaging	Het
Zfp319	C	A	8: 96,055,589 (GRCm39)	V205F	probably damaging	Het
Zscan25	A	T	5: 145,227,512 (GRCm39)	H392L	probably damaging	Het
Zswim6	A	T	13: 107,884,786 (GRCm39)		noncoding transcript	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
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
R3889:Slc25a45	UTSW	19	5,930,661 (GRCm39)	splice site	probably benign
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

Posted On

2015-04-16