Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02421:Slc25a34'

292666

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: 0.058) question?

Stock #

IGL02421

Quality Score

Status

Chromosome

Chromosomal Location

141618824-141623821 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141621442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 237 (V237A)

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 benign
Transcript: ENSMUST00000038661
AA Change: V237A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039188
Gene: ENSMUSG00000040740
AA Change: V237A

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	C	2: 155,050,752	F117S	probably damaging	Het
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Acacb	A	G	5: 114,223,878	T1394A	probably benign	Het
Adam19	A	G	11: 46,137,553	N671S	probably damaging	Het
Akap13	A	T	7: 75,717,806	N1815I	possibly damaging	Het
Aloxe3	A	G	11: 69,130,046	D199G	possibly damaging	Het
Ap1g2	G	A	14: 55,102,402	A440V	probably damaging	Het
Bmt2	G	T	6: 13,628,842	Q281K	probably damaging	Het
Celsr3	T	C	9: 108,840,463	F2243L	probably damaging	Het
Cenpb	G	A	2: 131,179,681	R66C	probably damaging	Het
Chl1	A	T	6: 103,717,580	H1121L	probably damaging	Het
Cpb1	T	C	3: 20,251,984	Y344C	probably damaging	Het
Cspg5	T	A	9: 110,247,392		probably benign	Het
Dnah11	T	C	12: 118,186,902	N374D	probably damaging	Het
Dnah3	A	G	7: 119,950,992	V3368A	possibly damaging	Het
Eml4	T	C	17: 83,477,892	S829P	probably benign	Het
Gm14548	T	C	7: 3,896,995	N203D	possibly damaging	Het
Got2-ps1	T	C	5: 138,364,549		noncoding transcript	Het
Hal	T	C	10: 93,503,473	C475R	probably damaging	Het
Mapkbp1	C	T	2: 120,019,655	P806S	possibly damaging	Het
Mmrn1	A	T	6: 60,944,822	T88S	probably benign	Het
Napsa	A	G	7: 44,585,055	H237R	probably damaging	Het
Olfr1215	T	C	2: 89,001,344		probably null	Het
Olfr412	T	C	11: 74,365,191	I174T	probably damaging	Het
Olfr568	T	C	7: 102,877,759	I213T	probably damaging	Het
Olfr661	A	G	7: 104,688,533	N173D	probably benign	Het
Opn5	C	T	17: 42,596,555		probably benign	Het
Polb	C	T	8: 22,640,373	G179D	probably damaging	Het
Primpol	G	T	8: 46,607,795		probably benign	Het
Prom2	T	A	2: 127,531,882		probably null	Het
Psmb10	A	G	8: 105,937,492		probably null	Het
Ranbp2	T	G	10: 58,480,554	S2365R	probably damaging	Het
Sgce	G	A	6: 4,694,187		probably benign	Het
Slc39a2	A	T	14: 51,893,872	T25S	probably benign	Het
Smarca4	T	C	9: 21,639,239	C423R	probably damaging	Het
Stt3b	G	A	9: 115,251,852		probably benign	Het
Tbl1xr1	A	T	3: 22,203,163	I397F	probably damaging	Het
Tie1	A	G	4: 118,486,394	V117A	probably damaging	Het
Tmc3	T	C	7: 83,622,744	F1035L	probably benign	Het
Trhde	T	A	10: 114,412,461	K944N	probably damaging	Het
Vmn1r54	G	A	6: 90,269,151	A16T	probably benign	Het
Washc4	T	A	10: 83,579,550	N801K	probably damaging	Het
Xylt2	A	G	11: 94,667,762	Y523H	possibly damaging	Het
Znfx1	T	C	2: 167,060,080	R5G	probably damaging	Het

Other mutations in Slc25a34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Slc25a34	APN	4	141621436	missense	possibly damaging	0.84
IGL01578:Slc25a34	APN	4	141622510	splice site	probably null
IGL01694:Slc25a34	APN	4	141622253	missense	probably benign	0.03
R0139:Slc25a34	UTSW	4	141622352	missense	possibly damaging	0.51
R0415:Slc25a34	UTSW	4	141620469	missense	possibly damaging	0.48
R1851:Slc25a34	UTSW	4	141622268	missense	probably benign	0.06
R1852:Slc25a34	UTSW	4	141622268	missense	probably benign	0.06
R4776:Slc25a34	UTSW	4	141623588	missense	possibly damaging	0.83
R5112:Slc25a34	UTSW	4	141621458	missense	probably benign	0.01
R5426:Slc25a34	UTSW	4	141623566	missense	probably damaging	0.96
R5807:Slc25a34	UTSW	4	141623662	missense	probably benign
R6107:Slc25a34	UTSW	4	141623495	missense	probably benign	0.03
R6977:Slc25a34	UTSW	4	141620498	missense	probably damaging	1.00
R8191:Slc25a34	UTSW	4	141620584	missense	probably damaging	1.00
R9214:Slc25a34	UTSW	4	141623330	missense	probably damaging	0.99

Posted On

2015-04-16