Incidental Mutation 'IGL02206:Cnn1'
ID284495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnn1
Ensembl Gene ENSMUSG00000001349
Gene Namecalponin 1
Synonymscalponin h1, CN, CnnI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02206
Quality Score
Status
Chromosome9
Chromosomal Location22099216-22109630 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 22104378 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001384] [ENSMUST00000213607] [ENSMUST00000214601] [ENSMUST00000216872]
Predicted Effect probably benign
Transcript: ENSMUST00000001384
SMART Domains Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349

DomainStartEndE-ValueType
CH 30 127 2.69e-25 SMART
low complexity region 134 143 N/A INTRINSIC
Pfam:Calponin 164 188 1.1e-18 PFAM
Pfam:Calponin 204 228 1.1e-17 PFAM
Pfam:Calponin 243 267 2.6e-15 PFAM
low complexity region 286 295 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213607
Predicted Effect probably benign
Transcript: ENSMUST00000214601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216141
Predicted Effect probably benign
Transcript: ENSMUST00000216872
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an allele lacking exons 5-7 exhibit accelerated cartilage formation and ossification. As adults mutant animals have increased width of the long bones and accelerated bone fracture repair. Mice homozygous for an allele lacking intron 1exhibit preweaning lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,260,747 K824* probably null Het
Acot12 A G 13: 91,759,987 D96G probably damaging Het
Acvr2b C T 9: 119,427,998 Q98* probably null Het
Aldh8a1 T C 10: 21,395,575 V400A probably benign Het
Aox1 C A 1: 58,065,340 H559N probably benign Het
Arhgef18 T A 8: 3,445,034 I431N probably benign Het
Atad5 A G 11: 80,094,183 D32G probably damaging Het
Cmtm8 T C 9: 114,843,899 H10R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Defb23 C A 2: 152,464,535 E20* probably null Het
Dennd2a A T 6: 39,523,449 S61T probably damaging Het
Fam13a A T 6: 58,987,219 I76K probably benign Het
Fgd5 A G 6: 91,987,258 probably benign Het
Flt4 A T 11: 49,630,390 R409W probably damaging Het
Gm11397 A G 13: 33,404,199 T256A probably damaging Het
Gramd1b T C 9: 40,300,032 T652A probably benign Het
Grik1 C T 16: 87,935,920 G703D probably damaging Het
Impg2 A G 16: 56,259,597 E479G possibly damaging Het
Itpr1 A G 6: 108,549,820 N2743S probably damaging Het
Klc1 A G 12: 111,778,116 probably benign Het
Mb21d1 T C 9: 78,443,080 probably null Het
Ndufa9 G A 6: 126,844,403 R75* probably null Het
Neurl4 A G 11: 69,910,340 N1181S probably damaging Het
Olfr1431 T C 19: 12,210,460 I298T probably damaging Het
Phf1 A G 17: 26,936,869 probably benign Het
Pkhd1l1 T C 15: 44,512,849 I969T probably benign Het
Pprc1 G A 19: 46,071,751 R1538Q probably damaging Het
Rasd1 C T 11: 59,963,952 G234D possibly damaging Het
Rnf152 T C 1: 105,284,824 T3A probably benign Het
Rrh C T 3: 129,811,697 V115I probably benign Het
Rundc3a G T 11: 102,399,634 E217* probably null Het
Sae1 A T 7: 16,330,656 V306E possibly damaging Het
Serpinb7 T C 1: 107,435,372 S89P possibly damaging Het
Sgo2b T A 8: 63,941,084 T74S possibly damaging Het
Slc5a7 T C 17: 54,296,994 D48G probably damaging Het
Stn1 T C 19: 47,516,173 M177V possibly damaging Het
Tgm1 T C 14: 55,704,935 E653G possibly damaging Het
Thsd4 T C 9: 60,394,115 K299R probably benign Het
Ttc22 A G 4: 106,635,989 T278A probably damaging Het
Ubl4b G T 3: 107,554,825 Q40K possibly damaging Het
Zfp677 A G 17: 21,393,237 D31G probably damaging Het
Other mutations in Cnn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Cnn1 APN 9 22099397 missense possibly damaging 0.95
spring_rolls UTSW 9 22107869 missense probably damaging 1.00
R1076:Cnn1 UTSW 9 22107869 missense probably damaging 1.00
R1647:Cnn1 UTSW 9 22107854 missense probably damaging 0.99
R1898:Cnn1 UTSW 9 22101264 critical splice donor site probably null
R3522:Cnn1 UTSW 9 22099368 missense probably benign 0.01
R5193:Cnn1 UTSW 9 22107836 missense probably damaging 0.97
R5343:Cnn1 UTSW 9 22105410 missense probably benign 0.41
R7172:Cnn1 UTSW 9 22105494 missense probably damaging 1.00
R7205:Cnn1 UTSW 9 22105782 critical splice donor site probably null
R7251:Cnn1 UTSW 9 22108217 missense unknown
Posted On2015-04-16