Incidental Mutation 'IGL03152:Caln1'
ID411125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Caln1
Ensembl Gene ENSMUSG00000060371
Gene Namecalneuron 1
Synonyms9630012C17Rik, Cabp8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL03152
Quality Score
Status
Chromosome5
Chromosomal Location130369455-130847412 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130617852 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 43 (E43G)
Ref Sequence ENSEMBL: ENSMUSP00000106919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086029] [ENSMUST00000111287] [ENSMUST00000111288] [ENSMUST00000141131]
Predicted Effect possibly damaging
Transcript: ENSMUST00000086029
AA Change: E85G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083193
Gene: ENSMUSG00000060371
AA Change: E85G

DomainStartEndE-ValueType
EFh 82 110 2.98e-9 SMART
EFh 118 146 2.06e-3 SMART
low complexity region 195 204 N/A INTRINSIC
transmembrane domain 234 256 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111287
AA Change: E43G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106918
Gene: ENSMUSG00000060371
AA Change: E43G

DomainStartEndE-ValueType
EFh 40 68 2.98e-9 SMART
EFh 76 104 2.06e-3 SMART
low complexity region 153 162 N/A INTRINSIC
transmembrane domain 192 214 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111288
AA Change: E43G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106919
Gene: ENSMUSG00000060371
AA Change: E43G

DomainStartEndE-ValueType
EFh 40 68 2.98e-9 SMART
EFh 76 104 2.06e-3 SMART
low complexity region 153 162 N/A INTRINSIC
transmembrane domain 192 214 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000141131
AA Change: E43G

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144225
Gene: ENSMUSG00000060371
AA Change: E43G

DomainStartEndE-ValueType
Pfam:EF-hand_1 40 68 1.3e-9 PFAM
Pfam:EF-hand_6 40 69 2.6e-9 PFAM
Pfam:EF-hand_5 41 66 1.1e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201334
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik A G 2: 85,500,304 S220P probably damaging Het
Cacna2d1 T A 5: 16,322,568 N540K probably benign Het
Car14 A C 3: 95,898,845 C301W probably damaging Het
Clpx G A 9: 65,310,176 V9I possibly damaging Het
E430018J23Rik A G 7: 127,392,297 C173R probably damaging Het
Edar A G 10: 58,609,995 F249S possibly damaging Het
Fam160b1 C A 19: 57,378,832 T269K probably damaging Het
Gm4799 A G 10: 82,954,963 noncoding transcript Het
Gm9833 A T 3: 10,088,274 K34N probably benign Het
Grk4 T C 5: 34,745,357 S418P probably damaging Het
Kcnh4 A G 11: 100,745,772 S774P probably benign Het
Kif23 A G 9: 61,929,776 probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Olfr1042 A T 2: 86,159,686 I228N possibly damaging Het
Pcgf6 A T 19: 47,048,905 probably benign Het
Ryr2 G A 13: 11,853,150 R265C probably damaging Het
Smgc A G 15: 91,841,422 K2R possibly damaging Het
Stx5a T C 19: 8,749,774 probably null Het
Syne2 A T 12: 75,965,712 N2560I probably benign Het
Tuba3a A T 6: 125,281,337 L230Q probably damaging Het
Tubb4b-ps1 A G 5: 7,180,001 probably benign Het
Zfp217 A G 2: 170,119,052 S452P probably damaging Het
Zzef1 G A 11: 72,923,182 probably null Het
Other mutations in Caln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Caln1 APN 5 130669551 missense probably damaging 1.00
IGL03409:Caln1 APN 5 130617878 missense probably damaging 1.00
ANU22:Caln1 UTSW 5 130669551 missense probably damaging 1.00
R0346:Caln1 UTSW 5 130822921 missense possibly damaging 0.83
R2180:Caln1 UTSW 5 130839408 makesense probably null
R2352:Caln1 UTSW 5 130506152 nonsense probably null
R5489:Caln1 UTSW 5 130414832 missense possibly damaging 0.66
R7114:Caln1 UTSW 5 130839283 missense possibly damaging 0.93
R7159:Caln1 UTSW 5 130822997 missense probably benign 0.20
R7355:Caln1 UTSW 5 130414891 missense probably benign
R7611:Caln1 UTSW 5 130506077 missense probably damaging 0.99
Z1177:Caln1 UTSW 5 130839314 nonsense probably null
Posted On2016-08-02