Incidental Mutation 'IGL03070:Uqcc6'
ID 417497
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uqcc6
Ensembl Gene ENSMUSG00000063320
Gene Name ubiquinol-cytochrome c reductase complex assembly factor 6
Synonyms 1190007I07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL03070
Quality Score
Status
Chromosome 10
Chromosomal Location 82455685-82459062 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to T at 82455950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079648] [ENSMUST00000176200] [ENSMUST00000183363] [ENSMUST00000183416] [ENSMUST00000185168]
AlphaFold Q8BTC1
Predicted Effect probably benign
Transcript: ENSMUST00000079648
SMART Domains Protein: ENSMUSP00000078593
Gene: ENSMUSG00000063320

DomainStartEndE-ValueType
Pfam:DUF4516 1 46 1.5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176200
SMART Domains Protein: ENSMUSP00000134868
Gene: ENSMUSG00000063320

DomainStartEndE-ValueType
Pfam:DUF4516 1 47 2.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183363
SMART Domains Protein: ENSMUSP00000139234
Gene: ENSMUSG00000063320

DomainStartEndE-ValueType
Pfam:DUF4516 1 47 2.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183416
SMART Domains Protein: ENSMUSP00000139041
Gene: ENSMUSG00000063320

DomainStartEndE-ValueType
Pfam:DUF4516 1 40 1.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185168
SMART Domains Protein: ENSMUSP00000139244
Gene: ENSMUSG00000063320

DomainStartEndE-ValueType
Pfam:DUF4516 1 47 2.2e-28 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,193,800 (GRCm39) E404G probably damaging Het
Arid1a A G 4: 133,422,064 (GRCm39) S778P unknown Het
Asah2 A T 19: 31,983,744 (GRCm39) Y567N probably damaging Het
Crb1 G T 1: 139,168,996 (GRCm39) H841N possibly damaging Het
Ehbp1l1 A G 19: 5,765,981 (GRCm39) V1454A probably benign Het
Eif3d A G 15: 77,843,843 (GRCm39) L501P probably damaging Het
Fbxo4 A T 15: 4,007,344 (GRCm39) S107T possibly damaging Het
Galnt10 T C 11: 57,616,408 (GRCm39) Y108H probably damaging Het
Hspbap1 T A 16: 35,639,096 (GRCm39) D263E probably damaging Het
Kpna3 T C 14: 61,608,231 (GRCm39) probably benign Het
Miox A G 15: 89,220,287 (GRCm39) T160A possibly damaging Het
Mlxipl G A 5: 135,161,307 (GRCm39) V409M possibly damaging Het
Mrps21 A T 3: 95,777,897 (GRCm39) probably benign Het
Muc6 A G 7: 141,230,834 (GRCm39) probably benign Het
Mup6 A T 4: 60,003,999 (GRCm39) I31F probably damaging Het
Or52s1 A G 7: 102,861,904 (GRCm39) H279R probably benign Het
Pabir1 A C 19: 24,454,316 (GRCm39) D135E probably damaging Het
Pgr T A 9: 8,903,665 (GRCm39) I562N possibly damaging Het
Prag1 T A 8: 36,570,703 (GRCm39) W429R probably benign Het
Prrc2c G T 1: 162,504,978 (GRCm39) P2621Q probably damaging Het
Psip1 T G 4: 83,383,318 (GRCm39) K232N probably damaging Het
Ryr1 T C 7: 28,770,084 (GRCm39) Y2663C probably damaging Het
Trhr2 T A 8: 123,085,342 (GRCm39) Q214L probably benign Het
Txndc11 A T 16: 10,893,151 (GRCm39) Y860N probably damaging Het
Vmn2r72 C T 7: 85,401,249 (GRCm39) probably benign Het
Yif1a T A 19: 5,138,757 (GRCm39) H4Q possibly damaging Het
Other mutations in Uqcc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1985:Uqcc6 UTSW 10 82,456,051 (GRCm39) missense possibly damaging 0.71
R8677:Uqcc6 UTSW 10 82,456,050 (GRCm39) missense possibly damaging 0.93
R9127:Uqcc6 UTSW 10 82,458,588 (GRCm39) missense probably benign 0.05
R9235:Uqcc6 UTSW 10 82,458,586 (GRCm39) missense possibly damaging 0.71
R9393:Uqcc6 UTSW 10 82,458,475 (GRCm39) missense unknown
Posted On 2016-08-02