Incidental Mutation 'IGL01694:Slc25a34'
ID104213
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 #IGL01694
Quality Score
Status
Chromosome4
Chromosomal Location141618824-141623821 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 141622253 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 197 (A197V)
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 benign
Transcript: ENSMUST00000038661
AA Change: A197V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000039188
Gene: ENSMUSG00000040740
AA Change: A197V

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 36,096,702 *219W probably null Het
Abi1 G A 2: 22,960,713 T238M probably damaging Het
Agbl2 C T 2: 90,801,074 L259F probably damaging Het
Cacna1g T A 11: 94,429,112 I1413F probably damaging Het
Ddx21 T A 10: 62,598,651 K110* probably null Het
Dnm1l A T 16: 16,316,651 I463N probably benign Het
Dst C A 1: 34,188,160 H1286Q probably benign Het
Elmo2 A T 2: 165,314,773 N67K probably benign Het
Eps8l3 G A 3: 107,892,308 C578Y probably damaging Het
Fam83b T A 9: 76,490,990 I944F probably benign Het
Itga10 A T 3: 96,652,517 D496V probably damaging Het
Lama2 T G 10: 27,006,742 K2608N possibly damaging Het
Lap3 T A 5: 45,498,595 probably null Het
Madd T C 2: 91,157,975 probably benign Het
Mdh1b T A 1: 63,711,106 probably benign Het
Ncapg2 G A 12: 116,407,230 probably benign Het
Olfr1509 A G 14: 52,450,584 N57S probably benign Het
Opalin A G 19: 41,063,800 probably benign Het
Plxna3 T A X: 74,338,508 D1291E probably damaging Het
Prss40 T A 1: 34,556,097 I101F probably benign Het
Rpl5 T C 5: 107,907,240 Y253H probably benign Het
Sephs2 A G 7: 127,273,087 I278T probably benign Het
Slco6d1 C T 1: 98,499,845 R634W probably damaging Het
Smarca4 C A 9: 21,665,870 A871D probably damaging Het
Speer2 C T 16: 69,858,112 S155N probably damaging Het
Speer2 T A 16: 69,858,113 S155C probably damaging Het
Spink12 T A 18: 44,107,760 V71E probably damaging Het
Tecta T C 9: 42,367,179 D1011G possibly damaging Het
Tmtc4 G A 14: 122,973,212 T78I possibly damaging Het
Tub T C 7: 109,021,036 probably benign Het
Vps13c T A 9: 67,895,349 V644D probably damaging Het
Zfp7 C T 15: 76,890,795 Q346* probably null Het
Other mutations in Slc25a34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Slc25a34 APN 4 141621436 missense possibly damaging 0.84
IGL01578:Slc25a34 APN 4 141622510 splice site probably null
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 On2014-01-21