Incidental Mutation 'IGL01578:Slc25a34'
ID91349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a34
Ensembl Gene ENSMUSG00000040740
Gene Namesolute carrier family 25, member 34
SynonymsLOC384071
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01578
Quality Score
Status
Chromosome4
Chromosomal Location141618824-141623821 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 141622510 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030751] [ENSMUST00000038661] [ENSMUST00000053263] [ENSMUST00000084203] [ENSMUST00000143154]
Predicted Effect probably benign
Transcript: ENSMUST00000030751
SMART Domains Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,270,710 E3167G unknown Het
Arhgap28 G A 17: 67,858,200 T516I probably benign Het
Birc6 T C 17: 74,648,197 C3486R probably benign Het
Camk2g G A 14: 20,747,854 probably benign Het
Dmxl1 T A 18: 49,962,205 H2950Q probably damaging Het
Eml6 A T 11: 29,850,870 S379T probably benign Het
Epb41l3 C T 17: 69,248,709 H13Y probably damaging Het
Fam149a A T 8: 45,350,442 D337E probably damaging Het
Galnt14 T A 17: 73,535,366 probably benign Het
Gm6489 G T 1: 31,287,335 noncoding transcript Het
Hspg2 G A 4: 137,539,183 R1885H probably damaging Het
Jag1 T A 2: 137,100,051 probably benign Het
Nalcn A T 14: 123,572,091 N216K probably benign Het
Ndst1 T C 18: 60,713,126 Y37C probably damaging Het
Nr2c2 A G 6: 92,162,038 N486S probably benign Het
Obscn A T 11: 58,999,680 L7342Q unknown Het
Olfr1051 C A 2: 86,275,741 V249F probably damaging Het
Olfr1402 A T 3: 97,410,720 C154S probably damaging Het
Olfr661 A G 7: 104,688,845 I277V probably benign Het
Pou4f2 A C 8: 78,435,655 D106E probably damaging Het
Ppic G A 18: 53,417,929 P10S unknown Het
Psd2 A G 18: 35,979,785 T178A probably damaging Het
Stap2 A G 17: 55,997,623 S360P probably benign Het
Stx3 T C 19: 11,786,605 E129G probably damaging Het
Sun3 T A 11: 9,029,436 E28D probably damaging Het
Tmem126a C T 7: 90,451,542 probably null Het
Trove2 A T 1: 143,761,300 N391K probably damaging Het
Trpc6 A T 9: 8,634,057 H379L probably damaging Het
Ttf2 A G 3: 100,956,195 S608P possibly damaging Het
Tubgcp3 T C 8: 12,661,297 probably benign Het
Other mutations in Slc25a34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Slc25a34 APN 4 141621436 missense possibly damaging 0.84
IGL01694:Slc25a34 APN 4 141622253 missense probably benign 0.03
IGL02421:Slc25a34 APN 4 141621442 missense probably benign 0.00
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
Posted On2013-12-09