Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01311:Slc25a34'

73683

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 #

IGL01311

Quality Score

Status

Chromosome

Chromosomal Location

141346135-141351132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141348747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 239 (T239I)

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

possibly damaging
Transcript: ENSMUST00000038661
AA Change: T239I

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039188
Gene: ENSMUSG00000040740
AA Change: T239I

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	T	7: 101,037,343 (GRCm39)	K457*	probably null	Het
Arhgef10	C	A	8: 15,041,054 (GRCm39)		probably null	Het
Becn1	C	T	11: 101,182,342 (GRCm39)	G281S	probably damaging	Het
Borcs8	A	G	8: 70,617,818 (GRCm39)	S59G	probably damaging	Het
Brd10	C	T	19: 29,731,420 (GRCm39)	V531I	probably benign	Het
Capn5	C	A	7: 97,811,130 (GRCm39)	R53L	probably damaging	Het
Cdk5	C	T	5: 24,624,593 (GRCm39)		probably null	Het
Cnksr1	A	G	4: 133,957,777 (GRCm39)	L434P	probably damaging	Het
Col22a1	C	T	15: 71,845,486 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,667,299 (GRCm39)	D811G	probably damaging	Het
Haus3	G	A	5: 34,324,988 (GRCm39)	Q224*	probably null	Het
Jakmip2	A	G	18: 43,690,389 (GRCm39)		probably benign	Het
Jam3	T	G	9: 27,010,019 (GRCm39)	T296P	probably damaging	Het
Kcnrg	T	C	14: 61,849,274 (GRCm39)	L245P	probably damaging	Het
Kif1b	A	G	4: 149,305,059 (GRCm39)	L909P	probably damaging	Het
Klrc3	T	C	6: 129,618,375 (GRCm39)	D136G	probably damaging	Het
Lrrc37	T	A	11: 103,425,502 (GRCm39)	R1450S	unknown	Het
Ltf	T	C	9: 110,860,080 (GRCm39)		probably benign	Het
Meig1	A	T	2: 3,410,245 (GRCm39)	V85D	possibly damaging	Het
Mrgprb2	T	A	7: 48,201,746 (GRCm39)	E326D	probably benign	Het
Nlrp2	T	A	7: 5,322,238 (GRCm39)	D65V	possibly damaging	Het
Or4c100	T	C	2: 88,356,104 (GRCm39)	F59S	possibly damaging	Het
Or52h7	T	C	7: 104,214,036 (GRCm39)	Y203H	probably damaging	Het
Padi2	G	A	4: 140,644,948 (GRCm39)	V61I	probably benign	Het
Pkd1l1	T	C	11: 8,851,174 (GRCm39)	S753G	possibly damaging	Het
Ppp4r3b	T	C	11: 29,144,591 (GRCm39)	S314P	probably benign	Het
Serpina3i	T	C	12: 104,233,946 (GRCm39)	S305P	probably damaging	Het
Slc16a4	G	T	3: 107,199,821 (GRCm39)	V23F	possibly damaging	Het
Srebf2	T	C	15: 82,076,404 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,625,885 (GRCm39)	V1355A	possibly damaging	Het
Tcf12	A	T	9: 71,765,938 (GRCm39)		probably benign	Het
Tnpo3	T	C	6: 29,586,077 (GRCm39)	E171G	possibly damaging	Het
Ubr4	A	G	4: 139,206,356 (GRCm39)	H4864R	possibly damaging	Het
Vmn2r108	A	T	17: 20,682,939 (GRCm39)	L755*	probably null	Het
Zfp292	C	T	4: 34,807,961 (GRCm39)	M1699I	probably benign	Het
Zmynd8	T	C	2: 165,647,129 (GRCm39)	D880G	probably damaging	Het

Other mutations in Slc25a34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01578:Slc25a34	APN	4	141,349,821 (GRCm39)	splice site	probably null
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

2013-10-07