Incidental Mutation 'IGL00157:Cnn1'
ID 306555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnn1
Ensembl Gene ENSMUSG00000001349
Gene Name calponin 1
Synonyms calponin h1, CN, CnnI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00157
Quality Score
Status
Chromosome 9
Chromosomal Location 22099216-22109630 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 22099397 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 14 (L14F)
Ref Sequence ENSEMBL: ENSMUSP00000001384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001384] [ENSMUST00000213607] [ENSMUST00000214601] [ENSMUST00000216872]
AlphaFold Q08091
Predicted Effect possibly damaging
Transcript: ENSMUST00000001384
AA Change: L14F

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349
AA Change: L14F

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
AA Change: L14F

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 44,253,451 V331A possibly damaging Het
Casr C A 16: 36,495,810 V633F probably damaging Het
Cblb T G 16: 52,183,307 V716G probably benign Het
Cbln2 C T 18: 86,716,384 Q156* probably null Het
D830013O20Rik T C 12: 73,364,247 noncoding transcript Het
Drd1 A G 13: 54,053,878 S99P probably damaging Het
Fam35a A G 14: 34,268,625 V108A probably benign Het
Fat1 T C 8: 44,951,670 V486A possibly damaging Het
Galnt7 T C 8: 57,540,039 N416S probably damaging Het
Gm10735 T C 13: 113,041,484 probably benign Het
Gm8909 A T 17: 36,165,354 probably null Het
Jag2 T C 12: 112,912,718 T790A probably benign Het
Klhdc1 T A 12: 69,242,008 Y31N possibly damaging Het
Lama1 A T 17: 67,815,928 M2769L probably benign Het
Mms19 A G 19: 41,945,457 probably null Het
Msrb2 C A 2: 19,394,341 P172T probably damaging Het
Olfr228 T C 2: 86,483,218 S175G probably benign Het
Olfr955 A G 9: 39,470,243 V161A probably benign Het
Pcdhb9 T A 18: 37,403,279 D775E possibly damaging Het
Pkhd1 T C 1: 20,566,874 probably null Het
Preb A T 5: 30,955,964 D375E probably damaging Het
Prkdc T C 16: 15,697,226 I1010T probably damaging Het
Rbp2 A G 9: 98,498,897 probably null Het
Sept9 A G 11: 117,352,184 T66A probably damaging Het
Serpinb9b A T 13: 33,035,625 E178D probably benign Het
Tg A G 15: 66,847,166 Y258C probably damaging Het
Tmprss7 T C 16: 45,663,368 R548G probably benign Het
Uba7 G A 9: 107,979,111 A536T probably benign Het
Vmn2r114 G A 17: 23,291,665 P614S probably damaging Het
Xpc A G 6: 91,492,264 probably benign Het
Yrdc T C 4: 124,853,961 S86P probably damaging Het
Zbed6 G T 1: 133,657,376 A741D probably damaging Het
Other mutations in Cnn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02206:Cnn1 APN 9 22104378 splice site probably benign
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
R8290:Cnn1 UTSW 9 22101151 missense probably benign 0.35
R8725:Cnn1 UTSW 9 22099261 unclassified probably benign
R8727:Cnn1 UTSW 9 22099261 unclassified probably benign
R8966:Cnn1 UTSW 9 22099420 critical splice donor site probably null
R9216:Cnn1 UTSW 9 22108178 missense probably benign 0.00
R9332:Cnn1 UTSW 9 22108054 missense probably damaging 1.00
Posted On 2015-04-16