Incidental Mutation 'IGL01305:Caln1'
ID 73398
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: 0.106) question?
Stock # IGL01305
Quality Score
Status
Chromosome 5
Chromosomal Location 130398296-130876253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130698392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 96 (E96G)
Ref Sequence ENSEMBL: ENSMUSP00000106919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086029] [ENSMUST00000111287] [ENSMUST00000111288]
AlphaFold Q9JJG7
Predicted Effect probably damaging
Transcript: ENSMUST00000086029
AA Change: E138G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083193
Gene: ENSMUSG00000060371
AA Change: E138G

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: E96G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106918
Gene: ENSMUSG00000060371
AA Change: E96G

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: E96G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106919
Gene: ENSMUSG00000060371
AA Change: E96G

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,797,915 (GRCm39) E663G possibly damaging Het
Adam29 T A 8: 56,324,879 (GRCm39) H525L probably benign Het
Adamts6 T A 13: 104,526,590 (GRCm39) V506E probably damaging Het
Ankfy1 G A 11: 72,655,617 (GRCm39) E1101K probably damaging Het
Arap3 C T 18: 38,124,380 (GRCm39) probably null Het
Asxl3 T A 18: 22,649,503 (GRCm39) H497Q probably benign Het
Cdh23 T C 10: 60,148,403 (GRCm39) T2653A probably damaging Het
Cdk5rap2 T A 4: 70,298,472 (GRCm39) I87F possibly damaging Het
Chi3l1 A G 1: 134,110,554 (GRCm39) probably benign Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Crybg3 T A 16: 59,349,590 (GRCm39) H934L probably damaging Het
Cyp2d22 G A 15: 82,255,869 (GRCm39) T461I probably damaging Het
Dhcr24 T C 4: 106,429,475 (GRCm39) F183L possibly damaging Het
Dnajc13 T C 9: 104,107,836 (GRCm39) probably null Het
Dusp16 A T 6: 134,695,824 (GRCm39) S336T probably benign Het
F930017D23Rik T G 10: 43,480,371 (GRCm39) noncoding transcript Het
Fasl A G 1: 161,609,407 (GRCm39) V193A probably damaging Het
Fgf5 T C 5: 98,423,175 (GRCm39) Y187H probably damaging Het
Focad C A 4: 88,311,784 (GRCm39) Q1423K probably benign Het
Gabrp T C 11: 33,505,055 (GRCm39) T249A probably damaging Het
Galnt5 A T 2: 57,915,354 (GRCm39) K637* probably null Het
Gm20479 G A 7: 27,056,812 (GRCm39) R2525* probably null Het
Grm6 A T 11: 50,750,346 (GRCm39) D503V probably benign Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Lyst C T 13: 13,852,641 (GRCm39) R2214C probably benign Het
Micu2 T A 14: 58,181,082 (GRCm39) D184V probably damaging Het
Nabp2 T A 10: 128,244,631 (GRCm39) I52F probably damaging Het
Nat8f7 A T 6: 85,684,570 (GRCm39) L90* probably null Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4k47 T C 2: 111,451,546 (GRCm39) N291S probably damaging Het
Pphln1 A G 15: 93,386,985 (GRCm39) E273G probably damaging Het
Ppil1 C A 17: 29,482,862 (GRCm39) V14F possibly damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Rpl21 A G 5: 146,770,996 (GRCm39) probably benign Het
Rrp36 A T 17: 46,979,017 (GRCm39) probably benign Het
Skic8 C A 9: 54,635,470 (GRCm39) V44L probably damaging Het
St8sia5 G A 18: 77,342,358 (GRCm39) G320D probably damaging Het
Taf2 T C 15: 54,911,670 (GRCm39) E582G probably damaging Het
Tas2r116 T A 6: 132,832,406 (GRCm39) N2K probably benign Het
Tmem168 A T 6: 13,583,045 (GRCm39) V612E probably damaging Het
Unc79 A G 12: 102,968,130 (GRCm39) S119G probably damaging Het
Washc5 T A 15: 59,227,688 (GRCm39) K425* probably null Het
Wtap G T 17: 13,186,782 (GRCm39) T255K probably benign Het
Zfp148 T C 16: 33,277,313 (GRCm39) V134A probably benign Het
Other mutations in Caln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03152:Caln1 APN 5 130,646,693 (GRCm39) missense probably damaging 0.97
IGL03409:Caln1 APN 5 130,646,719 (GRCm39) missense probably damaging 1.00
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 2013-10-07