Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00432:Slc25a33'

6519

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 #

IGL00432

Quality Score

Status

Chromosome

Chromosomal Location

149828493-149858734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149829376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 261 (L261H)

Ref Sequence

ENSEMBL: ENSMUSP00000101311 (fasta)

Gene Model

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

AlphaFold

Q3TZX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000105686
AA Change: L261H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101311
Gene: ENSMUSG00000028982
AA Change: L261H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146250

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	T	1: 130,670,573 (GRCm39)	Q265L	possibly damaging	Het
Akr1c18	T	A	13: 4,187,232 (GRCm39)	H168L	probably damaging	Het
Arid3b	A	G	9: 57,741,207 (GRCm39)	S80P	possibly damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brd1	A	C	15: 88,614,361 (GRCm39)	V178G	probably benign	Het
Brd2	C	T	17: 34,333,397 (GRCm39)	R26Q	probably damaging	Het
Ddr2	T	C	1: 169,825,527 (GRCm39)	M358V	probably benign	Het
Dnajc14	A	G	10: 128,642,201 (GRCm39)	D41G	probably damaging	Het
Erap1	T	G	13: 74,821,778 (GRCm39)	V711G	probably benign	Het
Gchfr	A	G	2: 119,000,229 (GRCm39)	R37G	probably damaging	Het
Gm20518	T	A	16: 17,676,362 (GRCm39)	N136I	probably damaging	Het
Grm6	A	T	11: 50,754,124 (GRCm39)		probably benign	Het
Hydin	T	A	8: 111,327,884 (GRCm39)	V4797E	probably damaging	Het
Iws1	C	A	18: 32,217,741 (GRCm39)	N448K	probably benign	Het
Lin7c	T	C	2: 109,726,798 (GRCm39)		probably benign	Het
Lrrc40	T	A	3: 157,754,087 (GRCm39)	L196Q	probably damaging	Het
Lrrtm2	C	T	18: 35,346,321 (GRCm39)	G327D	probably benign	Het
Masp1	C	T	16: 23,332,601 (GRCm39)	C78Y	probably damaging	Het
Mmd	C	T	11: 90,155,360 (GRCm39)	R101W	probably damaging	Het
Myo1d	A	G	11: 80,492,566 (GRCm39)	Y730H	probably benign	Het
Pcdh15	A	G	10: 74,126,914 (GRCm39)		probably benign	Het
Pglyrp4	G	A	3: 90,646,335 (GRCm39)	V290M	probably damaging	Het
Plxna2	G	A	1: 194,326,404 (GRCm39)	V113I	probably benign	Het
Prkch	T	A	12: 73,749,363 (GRCm39)		probably benign	Het
Rabgef1	G	T	5: 130,237,565 (GRCm39)	E213*	probably null	Het
Rdh16f2	T	A	10: 127,702,533 (GRCm39)	C37S	probably damaging	Het
Reln	A	G	5: 22,215,125 (GRCm39)	Y1109H	probably damaging	Het
Scn7a	A	T	2: 66,572,326 (GRCm39)	L215*	probably null	Het
Slc28a3	A	T	13: 58,717,225 (GRCm39)		probably null	Het
Slc38a6	T	C	12: 73,398,577 (GRCm39)	I369T	probably benign	Het
Tgm4	A	T	9: 122,891,447 (GRCm39)		probably benign	Het
Tnr	A	G	1: 159,688,815 (GRCm39)	I426V	probably benign	Het
Vmn1r216	A	G	13: 23,283,574 (GRCm39)	I86V	probably benign	Het
Wwc1	G	A	11: 35,735,029 (GRCm39)	P949S	possibly damaging	Het
Zfp326	A	T	5: 106,044,399 (GRCm39)	I286F	probably damaging	Het

Other mutations in Slc25a33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03265:Slc25a33	APN	4	149,846,893 (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

2012-04-20