Incidental Mutation 'IGL03409:Caln1'
ID 421712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Caln1
Ensembl Gene ENSMUSG00000060371
Gene Name calneuron 1
Synonyms Cabp8, 9630012C17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL03409
Quality Score
Status
Chromosome 5
Chromosomal Location 130398296-130876253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 130646719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 52 (G52C)
Ref Sequence ENSEMBL: ENSMUSP00000144225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086029] [ENSMUST00000111287] [ENSMUST00000111288] [ENSMUST00000141131]
AlphaFold Q9JJG7
Predicted Effect probably damaging
Transcript: ENSMUST00000086029
AA Change: G94C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083193
Gene: ENSMUSG00000060371
AA Change: G94C

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: G52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106918
Gene: ENSMUSG00000060371
AA Change: G52C

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: G52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106919
Gene: ENSMUSG00000060371
AA Change: G52C

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: ENSMUST00000141131
AA Change: G52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144225
Gene: ENSMUSG00000060371
AA Change: G52C

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 124,691,762 (GRCm39) M401K possibly damaging Het
Ablim3 T A 18: 61,978,922 (GRCm39) H203L probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aox1 T G 1: 58,393,588 (GRCm39) D1249E possibly damaging Het
Astn2 T C 4: 65,353,423 (GRCm39) I1116V possibly damaging Het
Atad3a T C 4: 155,831,807 (GRCm39) D489G probably damaging Het
Clcn7 A G 17: 25,374,359 (GRCm39) T467A probably damaging Het
Col17a1 A T 19: 47,654,979 (GRCm39) I599N possibly damaging Het
Cul2 T A 18: 3,429,593 (GRCm39) H547Q probably damaging Het
Cxcl14 T C 13: 56,440,320 (GRCm39) T80A probably damaging Het
Dscaml1 T A 9: 45,581,401 (GRCm39) Y407N probably damaging Het
Edc4 T A 8: 106,611,748 (GRCm39) I108N probably damaging Het
Exoc2 T C 13: 31,124,720 (GRCm39) probably benign Het
Gm1110 T G 9: 26,807,916 (GRCm39) H290P probably benign Het
Gm16223 T A 5: 42,225,336 (GRCm39) W12R unknown Het
Herc2 C A 7: 55,878,317 (GRCm39) H4623Q probably damaging Het
Igkv18-36 A T 6: 69,969,589 (GRCm39) H68Q possibly damaging Het
Kif7 T C 7: 79,357,301 (GRCm39) E635G probably benign Het
Or2t47 T C 11: 58,442,388 (GRCm39) K226E probably benign Het
Or4c109 A T 2: 88,817,931 (GRCm39) I205N possibly damaging Het
Or52z13 T A 7: 103,246,574 (GRCm39) M17K possibly damaging Het
Or9m1b A T 2: 87,836,239 (GRCm39) N285K probably damaging Het
Pam C A 1: 97,792,054 (GRCm39) A456S probably benign Het
Pgap3 T C 11: 98,289,764 (GRCm39) T76A possibly damaging Het
Pkd2 C A 5: 104,637,215 (GRCm39) Y609* probably null Het
Plcg2 A G 8: 118,310,234 (GRCm39) D362G probably damaging Het
Polr3h C A 15: 81,801,595 (GRCm39) A94S probably benign Het
Rhod T C 19: 4,482,186 (GRCm39) D76G probably damaging Het
Rims2 T C 15: 39,320,129 (GRCm39) V670A probably damaging Het
Rpap3 G A 15: 97,579,620 (GRCm39) T464M possibly damaging Het
Rufy1 T A 11: 50,297,310 (GRCm39) I381L probably benign Het
Slc1a4 T C 11: 20,256,506 (GRCm39) T442A probably damaging Het
Slc9b1 T C 3: 135,100,670 (GRCm39) S472P probably damaging Het
Tmtc3 T C 10: 100,287,294 (GRCm39) T501A possibly damaging Het
Tnpo3 C A 6: 29,555,181 (GRCm39) D801Y probably damaging Het
Ttc39b T C 4: 83,179,193 (GRCm39) Y111C probably damaging Het
Ubr4 A T 4: 139,127,240 (GRCm39) R543* probably null Het
Vmn1r74 T G 7: 11,581,240 (GRCm39) L180R probably damaging Het
Vps45 T G 3: 95,960,401 (GRCm39) E80A probably benign Het
Zfp677 T C 17: 21,617,107 (GRCm39) Y55H probably damaging Het
Zng1 A G 19: 24,900,130 (GRCm39) V289A probably benign Het
Other mutations in Caln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Caln1 APN 5 130,698,392 (GRCm39) missense probably damaging 1.00
IGL03152:Caln1 APN 5 130,646,693 (GRCm39) missense probably damaging 0.97
ANU22:Caln1 UTSW 5 130,698,392 (GRCm39) missense probably damaging 1.00
R0346:Caln1 UTSW 5 130,851,762 (GRCm39) missense possibly damaging 0.83
R2180:Caln1 UTSW 5 130,868,249 (GRCm39) makesense probably null
R2352:Caln1 UTSW 5 130,534,993 (GRCm39) nonsense probably null
R5489:Caln1 UTSW 5 130,443,673 (GRCm39) missense possibly damaging 0.66
R7114:Caln1 UTSW 5 130,868,124 (GRCm39) missense possibly damaging 0.93
R7159:Caln1 UTSW 5 130,851,838 (GRCm39) missense probably benign 0.20
R7355:Caln1 UTSW 5 130,443,732 (GRCm39) missense probably benign
R7611:Caln1 UTSW 5 130,534,918 (GRCm39) missense probably damaging 0.99
R8119:Caln1 UTSW 5 130,851,825 (GRCm39) missense probably damaging 0.96
R9088:Caln1 UTSW 5 130,443,617 (GRCm39) start gained probably benign
R9138:Caln1 UTSW 5 130,698,449 (GRCm39) missense probably damaging 0.98
Z1177:Caln1 UTSW 5 130,868,155 (GRCm39) nonsense probably null
Posted On 2016-08-02