Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Slc25a27'

153388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a27

Ensembl Gene

ENSMUSG00000023912

Gene Name

solute carrier family 25, member 27

Synonyms

3632410G24Rik, D530043E16Rik, 9430092A03Rik, Ucp4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

43952782-43978105 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 43974964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024705] [ENSMUST00000024705] [ENSMUST00000170988]

AlphaFold

Q9D6D0

Predicted Effect

probably null
Transcript: ENSMUST00000024705

SMART Domains

Protein: ENSMUSP00000024705
Gene: ENSMUSG00000023912

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	15	119	1.4e-21	PFAM
Pfam:Mito_carr	122	221	2e-23	PFAM
Pfam:Mito_carr	224	319	1.1e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000024705

SMART Domains

Protein: ENSMUSP00000024705
Gene: ENSMUSG00000023912

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	15	119	1.4e-21	PFAM
Pfam:Mito_carr	122	221	2e-23	PFAM
Pfam:Mito_carr	224	319	1.1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170988

SMART Domains

Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963

Domain	Start	End	E-Value	Type
Pfam:p450	32	464	1.9e-52	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,960,126 (GRCm39)	D31V	probably damaging	Het
Acaca	A	T	11: 84,211,368 (GRCm39)	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980 (GRCm39)	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,598,895 (GRCm39)	V270A	probably benign	Het
Adgre4	G	A	17: 56,104,740 (GRCm39)	V269I	probably benign	Het
Ankhd1	A	G	18: 36,781,427 (GRCm39)	T2160A	probably damaging	Het
Bltp1	T	C	3: 37,095,512 (GRCm39)	V4505A	probably benign	Het
Bnip2	T	A	9: 69,909,398 (GRCm39)		probably benign	Het
Casp16	A	G	17: 23,771,027 (GRCm39)	V126A	probably damaging	Het
Ccser1	C	A	6: 61,695,136 (GRCm39)	T157K	probably benign	Het
Cdh23	A	G	10: 60,151,503 (GRCm39)	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,804,291 (GRCm39)	C21S	probably damaging	Het
Chmp6	G	A	11: 119,807,812 (GRCm39)	E72K	probably benign	Het
Cldn23	T	C	8: 36,292,816 (GRCm39)	Y224C	probably damaging	Het
Cry1	C	T	10: 84,982,338 (GRCm39)	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,725,956 (GRCm39)	F30I	probably benign	Het
Dgcr8	T	A	16: 18,096,200 (GRCm39)	D496V	probably damaging	Het
Dhx9	A	G	1: 153,344,614 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,820,801 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,860,282 (GRCm39)	E880G	possibly damaging	Het
Dscam	A	G	16: 96,456,136 (GRCm39)	V1264A	probably damaging	Het
Eno1	T	C	4: 150,331,167 (GRCm39)	Y270H	probably benign	Het
Eprs1	A	G	1: 185,117,112 (GRCm39)	D385G	probably damaging	Het
Ercc2	A	G	7: 19,124,346 (GRCm39)	Y215C	probably damaging	Het
Fscn2	A	G	11: 120,258,576 (GRCm39)	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,666,512 (GRCm39)	T449I	probably benign	Het
Gm43638	T	C	5: 87,613,290 (GRCm39)	K492E	probably damaging	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,090,158 (GRCm39)	T111A	unknown	Het
Gtf3c2	T	A	5: 31,314,979 (GRCm39)	N923Y	probably benign	Het
Il17a	T	A	1: 20,803,864 (GRCm39)	D86E	probably benign	Het
Itgb2l	G	T	16: 96,231,775 (GRCm39)	N330K	probably benign	Het
Kcnj11	T	C	7: 45,748,489 (GRCm39)	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,658,257 (GRCm39)	Y272*	probably null	Het
Kndc1	A	T	7: 139,509,959 (GRCm39)	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,374,120 (GRCm39)	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,398,861 (GRCm39)	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,612,332 (GRCm39)	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,898,434 (GRCm39)	L270P	probably damaging	Het
Med13	A	T	11: 86,210,609 (GRCm39)	I511N	probably benign	Het
Myo3a	A	T	2: 22,428,033 (GRCm39)	E763D	probably damaging	Het
Or1e25	T	A	11: 73,493,858 (GRCm39)	F151I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or4a68	C	T	2: 89,270,144 (GRCm39)	V160I	probably benign	Het
Or5b97	T	A	19: 12,879,112 (GRCm39)	T11S	probably benign	Het
Or7g27	G	A	9: 19,250,598 (GRCm39)	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,214,613 (GRCm39)	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,008,882 (GRCm39)	Y127*	probably null	Het
Psg18	A	G	7: 18,087,322 (GRCm39)	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,299,918 (GRCm39)	N108K	probably benign	Het
Rictor	A	G	15: 6,806,865 (GRCm39)	Y707C	probably damaging	Het
Rptn	T	C	3: 93,302,946 (GRCm39)	F93S	probably benign	Het
Rxrg	T	A	1: 167,454,884 (GRCm39)	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,189,946 (GRCm39)		probably benign	Het
Slx4	T	C	16: 3,808,112 (GRCm39)	K481E	probably benign	Het
Snx19	T	C	9: 30,374,560 (GRCm39)	W940R	possibly damaging	Het
Spopfm1	T	A	3: 94,173,791 (GRCm39)	D262E	probably benign	Het
Tasor2	G	A	13: 3,626,633 (GRCm39)	P1106S	probably benign	Het
Tcf20	G	A	15: 82,740,209 (GRCm39)	P414L	probably damaging	Het
Treml2	T	C	17: 48,609,838 (GRCm39)	V90A	probably benign	Het
Uckl1	C	T	2: 181,211,327 (GRCm39)	V501M	probably damaging	Het
Unc79	C	T	12: 103,108,256 (GRCm39)	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,567,903 (GRCm39)	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,383,237 (GRCm39)	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,603,643 (GRCm39)	D607G	probably benign	Het
Vps13a	C	T	19: 16,641,258 (GRCm39)	G2288D	probably damaging	Het
Znfx1	G	T	2: 166,897,643 (GRCm39)	T427N	probably damaging	Het

Other mutations in Slc25a27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Slc25a27	APN	17	43,974,980 (GRCm39)	missense	probably benign	0.01
IGL02207:Slc25a27	APN	17	43,972,575 (GRCm39)	missense	probably damaging	1.00
IGL02218:Slc25a27	APN	17	43,974,964 (GRCm39)	critical splice donor site	probably null
IGL02795:Slc25a27	APN	17	43,958,003 (GRCm39)	missense	probably damaging	1.00
R0243:Slc25a27	UTSW	17	43,954,518 (GRCm39)	missense	probably benign	0.03
R1591:Slc25a27	UTSW	17	43,964,315 (GRCm39)	missense	probably benign	0.12
R2165:Slc25a27	UTSW	17	43,968,663 (GRCm39)	missense	probably benign	0.00
R2974:Slc25a27	UTSW	17	43,964,262 (GRCm39)	missense	probably damaging	1.00
R5087:Slc25a27	UTSW	17	43,977,821 (GRCm39)	missense	probably damaging	1.00
R5888:Slc25a27	UTSW	17	43,960,585 (GRCm39)	missense	probably damaging	1.00
R6283:Slc25a27	UTSW	17	43,968,621 (GRCm39)	missense	probably damaging	1.00
R7309:Slc25a27	UTSW	17	43,975,083 (GRCm39)	missense	probably benign
R7920:Slc25a27	UTSW	17	43,960,564 (GRCm39)	missense	probably benign	0.00

Posted On

2014-02-04