Incidental Mutation 'IGL02628:Cmc1'
ID301171
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmc1
Ensembl Gene ENSMUSG00000039163
Gene NameCOX assembly mitochondrial protein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.222) question?
Stock #IGL02628
Quality Score
Status
Chromosome9
Chromosomal Location118064522-118150177 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118065308 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 33 (Y33H)
Ref Sequence ENSEMBL: ENSMUSP00000150859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044220] [ENSMUST00000044454] [ENSMUST00000133580] [ENSMUST00000134433] [ENSMUST00000135251] [ENSMUST00000154583] [ENSMUST00000215799]
Predicted Effect probably damaging
Transcript: ENSMUST00000044220
AA Change: Y81H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047904
Gene: ENSMUSG00000039163
AA Change: Y81H

DomainStartEndE-ValueType
Pfam:Cmc1 19 87 5.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044454
SMART Domains Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 224 278 4.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123690
SMART Domains Protein: ENSMUSP00000121245
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
Pfam:TBD 1 51 4.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130735
SMART Domains Protein: ENSMUSP00000114634
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 22 123 N/A INTRINSIC
Pfam:TBD 153 197 3.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133580
SMART Domains Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 226 278 1.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133814
Predicted Effect probably benign
Transcript: ENSMUST00000134433
SMART Domains Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 224 273 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135251
SMART Domains Protein: ENSMUSP00000116971
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 20 50 N/A INTRINSIC
Pfam:TBD 77 131 1.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154583
SMART Domains Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 40 83 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000215799
AA Change: Y33H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 T A 12: 70,954,656 probably null Het
Ankhd1 T C 18: 36,647,703 V1936A probably benign Het
Ap3m1 C A 14: 21,045,520 E81* probably null Het
Camkk1 T C 11: 73,029,169 probably benign Het
Cbwd1 T A 19: 24,957,905 E78D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntnap5b A T 1: 100,072,069 D184V probably damaging Het
F5 A T 1: 164,194,075 D1373V probably damaging Het
Fam169a T C 13: 97,111,288 probably benign Het
Fem1c G A 18: 46,505,952 R328W probably damaging Het
Gba2 T C 4: 43,568,919 R579G probably benign Het
Gm42641 G A 9: 109,058,630 Q98* probably null Het
Hsd17b7 A G 1: 169,964,489 F117L possibly damaging Het
Itsn1 A G 16: 91,899,623 D38G possibly damaging Het
Map1a T C 2: 121,300,104 I467T probably damaging Het
Map2k4 T A 11: 65,690,741 I382F possibly damaging Het
Myh1 T G 11: 67,206,262 probably benign Het
Nr1h4 C T 10: 89,473,839 A339T probably damaging Het
Olfr190 A C 16: 59,074,792 M96R probably benign Het
Olfr429 A G 1: 174,089,190 Y50C probably benign Het
Opn4 T A 14: 34,593,057 T420S probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc17a3 T A 13: 23,842,451 M1K probably null Het
T T A 17: 8,435,358 I125N probably damaging Het
Tns2 T A 15: 102,111,828 S710T probably benign Het
Trav3-1 T A 14: 52,581,094 V75E probably benign Het
U2surp A G 9: 95,472,090 Y832H possibly damaging Het
Other mutations in Cmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01628:Cmc1 APN 9 118115384 missense probably benign 0.00
R0122:Cmc1 UTSW 9 118065320 missense probably damaging 1.00
R4739:Cmc1 UTSW 9 118075177 missense probably benign 0.27
R5761:Cmc1 UTSW 9 118115375 missense probably benign 0.07
R7289:Cmc1 UTSW 9 118075182 missense possibly damaging 0.63
Posted On2015-04-16