Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03265:Slc25a33'

415063

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a33

Ensembl Gene

ENSMUSG00000028982

Gene Name

solute carrier family 25, member 33

Synonyms

Pnc1, 5730438N18Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

149828493-149858734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 149846893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 56 (L56R)

Ref Sequence

ENSEMBL: ENSMUSP00000101311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105686]

AlphaFold

Q3TZX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000105686
AA Change: L56R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101311
Gene: ENSMUSG00000028982
AA Change: L56R

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	123	3e-25	PFAM
Pfam:Mito_carr	125	218	2.5e-22	PFAM
Pfam:Mito_carr	229	319	6.2e-18	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A33 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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	A	11: 109,943,929 (GRCm39)	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,495,014 (GRCm39)	M286T	probably benign	Het
Anapc1	T	C	2: 128,469,117 (GRCm39)	S1575G	probably damaging	Het
Apba2	A	G	7: 64,345,071 (GRCm39)	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,854,439 (GRCm39)	F1641S	probably benign	Het
Atad2b	T	A	12: 5,074,628 (GRCm39)	H1062Q	probably benign	Het
Bivm	A	G	1: 44,181,005 (GRCm39)	R396G	probably damaging	Het
Bltp1	T	A	3: 37,102,140 (GRCm39)	D4777E	probably benign	Het
Bmi1	T	A	2: 18,686,672 (GRCm39)	M17K	possibly damaging	Het
Bptf	T	C	11: 106,945,454 (GRCm39)	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,674,243 (GRCm39)	E944G	probably damaging	Het
Ces2a	C	T	8: 105,464,075 (GRCm39)	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,568,007 (GRCm39)	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,016,199 (GRCm39)	E91D	probably benign	Het
Dus2	C	A	8: 106,760,423 (GRCm39)		probably benign	Het
Epha6	T	C	16: 59,880,594 (GRCm39)		probably benign	Het
Erap1	A	T	13: 74,812,246 (GRCm39)	T354S	probably damaging	Het
Fbxo11	T	C	17: 88,300,259 (GRCm39)	H851R	probably damaging	Het
Gm20532	G	A	2: 26,522,696 (GRCm39)	C90Y	unknown	Het
Gpr21	T	C	2: 37,408,086 (GRCm39)	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,398,002 (GRCm39)		probably benign	Het
Hephl1	G	A	9: 14,972,255 (GRCm39)	T895I	probably benign	Het
Hey1	T	C	3: 8,729,974 (GRCm39)	Y161C	probably benign	Het
Kdr	A	G	5: 76,121,433 (GRCm39)	Y526H	probably damaging	Het
Lpp	A	G	16: 24,580,737 (GRCm39)	Y151C	probably damaging	Het
Macc1	A	G	12: 119,410,711 (GRCm39)	N493S	probably benign	Het
Or2t45	T	C	11: 58,669,697 (GRCm39)	V248A	probably damaging	Het
Or52s6	C	A	7: 103,091,655 (GRCm39)	R225L	probably benign	Het
Or5m10b	T	A	2: 85,699,494 (GRCm39)	M186K	possibly damaging	Het
Or5t16	T	A	2: 86,819,424 (GRCm39)	Y32F	probably damaging	Het
Or6c1b	A	T	10: 129,272,794 (GRCm39)	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,648,206 (GRCm39)	D445G	probably damaging	Het
Prkra	T	C	2: 76,470,614 (GRCm39)	N123D	probably benign	Het
Usp36	A	G	11: 118,155,635 (GRCm39)	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,453,898 (GRCm39)	L188*	probably null	Het
Vmn2r12	A	G	5: 109,239,936 (GRCm39)	V209A	probably benign	Het
Zfp809	A	G	9: 22,154,339 (GRCm39)	Y352C	probably benign	Het

Other mutations in Slc25a33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Slc25a33	APN	4	149,829,376 (GRCm39)	missense	probably damaging	1.00
IGL01501:Slc25a33	APN	4	149,840,615 (GRCm39)	splice site	probably benign
IGL03192:Slc25a33	APN	4	149,829,223 (GRCm39)	missense	probably damaging	1.00
R2226:Slc25a33	UTSW	4	149,838,306 (GRCm39)	missense	probably benign	0.10
R5711:Slc25a33	UTSW	4	149,846,914 (GRCm39)	missense	possibly damaging	0.91
R5853:Slc25a33	UTSW	4	149,838,349 (GRCm39)	missense	probably benign	0.26
R6064:Slc25a33	UTSW	4	149,836,921 (GRCm39)	missense	probably benign	0.17
R8094:Slc25a33	UTSW	4	149,840,609 (GRCm39)	missense	probably benign	0.35
R9623:Slc25a33	UTSW	4	149,833,767 (GRCm39)	missense	probably benign	0.04
R9663:Slc25a33	UTSW	4	149,836,913 (GRCm39)	missense	probably benign

Posted On

2016-08-02