Incidental Mutation 'IGL02340:Chchd6'
ID 289036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chchd6
Ensembl Gene ENSMUSG00000030086
Gene Name coiled-coil-helix-coiled-coil-helix domain containing 6
Synonyms 1700021B03Rik, Micos25, 0710001P09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02340
Quality Score
Status
Chromosome 6
Chromosomal Location 89360128-89572634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89396762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 216 (H216Q)
Ref Sequence ENSEMBL: ENSMUSP00000032172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032172] [ENSMUST00000113550]
AlphaFold Q91VN4
Predicted Effect probably damaging
Transcript: ENSMUST00000032172
AA Change: H216Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032172
Gene: ENSMUSG00000030086
AA Change: H216Q

DomainStartEndE-ValueType
Pfam:DUF737 16 227 1.5e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113550
AA Change: H188Q

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109179
Gene: ENSMUSG00000030086
AA Change: H188Q

DomainStartEndE-ValueType
Pfam:DUF737 16 179 4.8e-47 PFAM
Pfam:DUF737 173 199 9.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204970
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T A 7: 27,328,824 (GRCm39) I182N probably damaging Het
Alpk3 A G 7: 80,728,255 (GRCm39) T462A probably benign Het
Amz1 A G 5: 140,738,014 (GRCm39) R425G probably damaging Het
Aoc2 A G 11: 101,217,201 (GRCm39) E428G probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Chl1 A G 6: 103,675,086 (GRCm39) Y591C probably damaging Het
Cln8 T C 8: 14,945,178 (GRCm39) L164S probably damaging Het
Dscaml1 T C 9: 45,581,474 (GRCm39) I431T possibly damaging Het
Fam234b T C 6: 135,208,659 (GRCm39) L524P probably damaging Het
Fmo1 T C 1: 162,660,559 (GRCm39) N410S probably benign Het
Ftsj3 G A 11: 106,143,972 (GRCm39) R251* probably null Het
Greb1l A T 18: 10,515,200 (GRCm39) D555V probably damaging Het
Hcar1 G T 5: 124,017,135 (GRCm39) H185Q probably damaging Het
Kcnj12 G A 11: 60,960,319 (GRCm39) V206I probably benign Het
Lamc3 G A 2: 31,808,469 (GRCm39) G742S probably damaging Het
Lipg T C 18: 75,093,946 (GRCm39) probably null Het
Ltbp2 A G 12: 84,839,729 (GRCm39) probably null Het
Mcm3ap T G 10: 76,332,386 (GRCm39) Y1234* probably null Het
Myh6 T A 14: 55,194,612 (GRCm39) D719V possibly damaging Het
Myo9b A G 8: 71,743,689 (GRCm39) N250S probably damaging Het
Nherf1 A G 11: 115,070,858 (GRCm39) E270G probably benign Het
Notch2 G A 3: 98,054,652 (GRCm39) W2438* probably null Het
Nphp1 G A 2: 127,621,987 (GRCm39) Q47* probably null Het
Nptx2 T C 5: 144,493,056 (GRCm39) L381P probably damaging Het
Nrxn3 A G 12: 90,171,402 (GRCm39) N911S possibly damaging Het
Or10j2 A T 1: 173,097,972 (GRCm39) I77F probably benign Het
Or5d46 T C 2: 88,169,906 (GRCm39) probably benign Het
P4ha1 T A 10: 59,188,023 (GRCm39) F260Y probably benign Het
Pitpnm2 T C 5: 124,268,676 (GRCm39) D504G probably damaging Het
Prss54 A G 8: 96,292,237 (GRCm39) V114A probably benign Het
Ptprc G A 1: 137,998,957 (GRCm39) T1031M probably damaging Het
Rtf2 T C 2: 172,310,511 (GRCm39) probably benign Het
Ryr3 A G 2: 112,777,349 (GRCm39) probably benign Het
Slc14a2 C T 18: 78,206,341 (GRCm39) E492K probably damaging Het
Stab1 G T 14: 30,862,367 (GRCm39) N2322K probably damaging Het
Thsd7b A G 1: 130,087,369 (GRCm39) N1162S probably benign Het
Tmprss11b T C 5: 86,810,090 (GRCm39) I297V probably benign Het
Tnn T C 1: 159,972,775 (GRCm39) N276D probably benign Het
Trhde A T 10: 114,428,118 (GRCm39) probably benign Het
Vmn1r115 T A 7: 20,578,453 (GRCm39) H153L possibly damaging Het
Vmn1r203 T A 13: 22,708,997 (GRCm39) C259* probably null Het
Xpot T A 10: 121,451,109 (GRCm39) E97V probably damaging Het
Zbtb2 T C 10: 4,318,712 (GRCm39) D438G probably damaging Het
Other mutations in Chchd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Chchd6 APN 6 89,546,399 (GRCm39) splice site probably null
IGL02490:Chchd6 APN 6 89,361,656 (GRCm39) missense possibly damaging 0.90
R0557:Chchd6 UTSW 6 89,551,569 (GRCm39) missense probably damaging 1.00
R1170:Chchd6 UTSW 6 89,361,669 (GRCm39) missense probably damaging 1.00
R1341:Chchd6 UTSW 6 89,361,623 (GRCm39) missense probably benign 0.00
R1619:Chchd6 UTSW 6 89,396,736 (GRCm39) missense possibly damaging 0.95
R1757:Chchd6 UTSW 6 89,361,626 (GRCm39) missense probably damaging 1.00
R3886:Chchd6 UTSW 6 89,444,433 (GRCm39) missense probably damaging 1.00
R4627:Chchd6 UTSW 6 89,361,642 (GRCm39) missense probably damaging 1.00
R4635:Chchd6 UTSW 6 89,444,448 (GRCm39) missense probably damaging 1.00
R5518:Chchd6 UTSW 6 89,544,567 (GRCm39) critical splice donor site probably null
R6732:Chchd6 UTSW 6 89,551,436 (GRCm39) missense probably benign 0.03
R6869:Chchd6 UTSW 6 89,572,478 (GRCm39) missense probably damaging 1.00
R8673:Chchd6 UTSW 6 89,546,380 (GRCm39) missense probably damaging 0.98
R9365:Chchd6 UTSW 6 89,551,413 (GRCm39) missense probably benign 0.25
R9502:Chchd6 UTSW 6 89,396,763 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16