Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01578:Slc25a34'

91349

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a34

Ensembl Gene

ENSMUSG00000040740

Gene Name

solute carrier family 25, member 34

Synonyms

LOC384071

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01578

Quality Score

Status

Chromosome

Chromosomal Location

141346135-141351132 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 141349821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030751] [ENSMUST00000038661] [ENSMUST00000053263] [ENSMUST00000084203] [ENSMUST00000143154]

AlphaFold

A2ADF7

Predicted Effect

probably benign
Transcript: ENSMUST00000030751

SMART Domains

Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917

Domain	Start	End	E-Value	Type
RUN	93	156	3.18e-21	SMART
low complexity region	230	246	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
low complexity region	485	495	N/A	INTRINSIC
low complexity region	505	538	N/A	INTRINSIC
Blast:PH	596	656	7e-31	BLAST
PH	766	869	2.43e-12	SMART
Blast:PH	879	960	6e-9	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000038661

SMART Domains

Protein: ENSMUSP00000039188
Gene: ENSMUSG00000040740

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	16	111	2.2e-14	PFAM
Pfam:Mito_carr	113	213	7.6e-18	PFAM
Pfam:Mito_carr	217	314	9.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053263

SMART Domains

Protein: ENSMUSP00000058412
Gene: ENSMUSG00000043085

Domain	Start	End	E-Value	Type
Pfam:TMEM82	10	315	2.4e-137	PFAM
low complexity region	342	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084203

SMART Domains

Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917

Domain	Start	End	E-Value	Type
RUN	93	156	3.18e-21	SMART
low complexity region	250	266	N/A	INTRINSIC
low complexity region	315	327	N/A	INTRINSIC
low complexity region	479	489	N/A	INTRINSIC
low complexity region	505	515	N/A	INTRINSIC
low complexity region	525	558	N/A	INTRINSIC
Blast:PH	616	676	7e-31	BLAST
PH	786	889	2.43e-12	SMART
Blast:PH	899	980	6e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000143154

SMART Domains

Protein: ENSMUSP00000120973
Gene: ENSMUSG00000043085

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
transmembrane domain	31	53	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
low complexity region	126	142	N/A	INTRINSIC
transmembrane domain	144	166	N/A	INTRINSIC
transmembrane domain	203	222	N/A	INTRINSIC
transmembrane domain	232	249	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156246

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A34 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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	G	A	17: 68,165,195 (GRCm39)	T516I	probably benign	Het
Birc6	T	C	17: 74,955,192 (GRCm39)	C3486R	probably benign	Het
Camk2g	G	A	14: 20,797,922 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,300,194 (GRCm39)	E3167G	unknown	Het
Dmxl1	T	A	18: 50,095,272 (GRCm39)	H2950Q	probably damaging	Het
Eml6	A	T	11: 29,800,870 (GRCm39)	S379T	probably benign	Het
Epb41l3	C	T	17: 69,555,704 (GRCm39)	H13Y	probably damaging	Het
Fam149a	A	T	8: 45,803,479 (GRCm39)	D337E	probably damaging	Het
Galnt14	T	A	17: 73,842,361 (GRCm39)		probably benign	Het
Gm6489	G	T	1: 31,326,416 (GRCm39)		noncoding transcript	Het
Hspg2	G	A	4: 137,266,494 (GRCm39)	R1885H	probably damaging	Het
Jag1	T	A	2: 136,941,971 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,809,503 (GRCm39)	N216K	probably benign	Het
Ndst1	T	C	18: 60,846,198 (GRCm39)	Y37C	probably damaging	Het
Nr2c2	A	G	6: 92,139,019 (GRCm39)	N486S	probably benign	Het
Obscn	A	T	11: 58,890,506 (GRCm39)	L7342Q	unknown	Het
Or13l2	A	T	3: 97,318,036 (GRCm39)	C154S	probably damaging	Het
Or56b2	A	G	7: 104,338,052 (GRCm39)	I277V	probably benign	Het
Or8k20	C	A	2: 86,106,085 (GRCm39)	V249F	probably damaging	Het
Pou4f2	A	C	8: 79,162,284 (GRCm39)	D106E	probably damaging	Het
Ppic	G	A	18: 53,551,001 (GRCm39)	P10S	unknown	Het
Psd2	A	G	18: 36,112,838 (GRCm39)	T178A	probably damaging	Het
Ro60	A	T	1: 143,637,038 (GRCm39)	N391K	probably damaging	Het
Stap2	A	G	17: 56,304,623 (GRCm39)	S360P	probably benign	Het
Stx3	T	C	19: 11,763,969 (GRCm39)	E129G	probably damaging	Het
Sun3	T	A	11: 8,979,436 (GRCm39)	E28D	probably damaging	Het
Tmem126a	C	T	7: 90,100,750 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,634,058 (GRCm39)	H379L	probably damaging	Het
Ttf2	A	G	3: 100,863,511 (GRCm39)	S608P	possibly damaging	Het
Tubgcp3	T	C	8: 12,711,297 (GRCm39)		probably benign	Het

Other mutations in Slc25a34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Slc25a34	APN	4	141,348,747 (GRCm39)	missense	possibly damaging	0.84
IGL01694:Slc25a34	APN	4	141,349,564 (GRCm39)	missense	probably benign	0.03
IGL02421:Slc25a34	APN	4	141,348,753 (GRCm39)	missense	probably benign	0.00
R0139:Slc25a34	UTSW	4	141,349,663 (GRCm39)	missense	possibly damaging	0.51
R0415:Slc25a34	UTSW	4	141,347,780 (GRCm39)	missense	possibly damaging	0.48
R1851:Slc25a34	UTSW	4	141,349,579 (GRCm39)	missense	probably benign	0.06
R1852:Slc25a34	UTSW	4	141,349,579 (GRCm39)	missense	probably benign	0.06
R4776:Slc25a34	UTSW	4	141,350,899 (GRCm39)	missense	possibly damaging	0.83
R5112:Slc25a34	UTSW	4	141,348,769 (GRCm39)	missense	probably benign	0.01
R5426:Slc25a34	UTSW	4	141,350,877 (GRCm39)	missense	probably damaging	0.96
R5807:Slc25a34	UTSW	4	141,350,973 (GRCm39)	missense	probably benign
R6107:Slc25a34	UTSW	4	141,350,806 (GRCm39)	missense	probably benign	0.03
R6977:Slc25a34	UTSW	4	141,347,809 (GRCm39)	missense	probably damaging	1.00
R8191:Slc25a34	UTSW	4	141,347,895 (GRCm39)	missense	probably damaging	1.00
R9214:Slc25a34	UTSW	4	141,350,641 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-09