Incidental Mutation 'IGL01959:Cald1'
ID 182331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cald1
Ensembl Gene ENSMUSG00000029761
Gene Name caldesmon 1
Synonyms C920027I18Rik, 4833423D12Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01959
Quality Score
Status
Chromosome 6
Chromosomal Location 34575433-34752404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34730403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 40 (D40G)
Ref Sequence ENSEMBL: ENSMUSP00000121911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031775] [ENSMUST00000079391] [ENSMUST00000115021] [ENSMUST00000115026] [ENSMUST00000115027] [ENSMUST00000142512] [ENSMUST00000126181] [ENSMUST00000149009]
AlphaFold E9QA15
Predicted Effect probably damaging
Transcript: ENSMUST00000031775
AA Change: D234G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: D234G

DomainStartEndE-ValueType
Pfam:Caldesmon 25 542 5.7e-256 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000079391
AA Change: D214G
SMART Domains Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: D214G

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Caldesmon 31 522 4.3e-260 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000115021
AA Change: D208G
SMART Domains Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: D208G

DomainStartEndE-ValueType
Pfam:Caldesmon 25 518 7.5e-259 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115026
AA Change: D214G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: D214G

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Caldesmon 31 524 4.9e-259 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000115027
AA Change: D448G
SMART Domains Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: D448G

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Caldesmon 31 363 8.4e-34 PFAM
Pfam:Caldesmon 243 755 3.8e-144 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000123823
AA Change: D83G
SMART Domains Protein: ENSMUSP00000117064
Gene: ENSMUSG00000029761
AA Change: D83G

DomainStartEndE-ValueType
Pfam:Caldesmon 1 210 4e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146685
Predicted Effect probably damaging
Transcript: ENSMUST00000142512
AA Change: D214G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761
AA Change: D214G

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Caldesmon 31 253 9.4e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126181
AA Change: D40G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121911
Gene: ENSMUSG00000029761
AA Change: D40G

DomainStartEndE-ValueType
Pfam:Caldesmon 1 138 7.6e-51 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000149009
AA Change: D208G
SMART Domains Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
AA Change: D208G

DomainStartEndE-ValueType
Pfam:Caldesmon 25 507 2e-247 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000136907
AA Change: D256G
SMART Domains Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761
AA Change: D256G

DomainStartEndE-ValueType
Pfam:Caldesmon 50 354 4.6e-15 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000142716
AA Change: D93G
SMART Domains Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761
AA Change: D93G

DomainStartEndE-ValueType
Pfam:Caldesmon 1 274 2.7e-63 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Some homozygous mutant mice develop hernia and those that do, die within 5-7 hours after birth. Mice homozygous for a different targeted allele fail to develop. Mice heterozygous for this allele exhibit increased urinary bladder weight, smooth muscle bundles and non-voiding contractions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T C 11: 50,982,645 (GRCm39) noncoding transcript Het
Aip A G 19: 4,171,397 (GRCm39) I13T probably damaging Het
Cacna2d1 C T 5: 16,417,895 (GRCm39) P140S probably benign Het
Cep250 T A 2: 155,825,279 (GRCm39) V1052E possibly damaging Het
Chd1 A G 17: 15,962,435 (GRCm39) N731D probably damaging Het
Chml C T 1: 175,515,166 (GRCm39) V252I probably benign Het
Cog8 T C 8: 107,783,010 (GRCm39) Y93C probably damaging Het
Creld1 G A 6: 113,469,794 (GRCm39) A399T probably damaging Het
Cyp2a4 T A 7: 26,007,133 (GRCm39) V80E probably damaging Het
Cyp2c37 T A 19: 39,984,277 (GRCm39) L255* probably null Het
Cyp2d12 C A 15: 82,439,545 (GRCm39) probably benign Het
Dimt1 A G 13: 107,089,963 (GRCm39) I229V probably benign Het
Dsc1 G A 18: 20,230,282 (GRCm39) T341I probably damaging Het
Ercc3 T A 18: 32,390,411 (GRCm39) F567I probably damaging Het
Espl1 C A 15: 102,214,097 (GRCm39) probably benign Het
Fcrl2 T C 3: 87,166,939 (GRCm39) D18G probably damaging Het
Fnip1 T A 11: 54,381,738 (GRCm39) S296R possibly damaging Het
Fzd5 C A 1: 64,775,105 (GRCm39) A219S possibly damaging Het
Gbp7 A G 3: 142,247,108 (GRCm39) probably benign Het
Gm3298 T C 14: 5,018,731 (GRCm38) L162S probably damaging Het
Hspa1l A G 17: 35,196,111 (GRCm39) E50G probably damaging Het
Ipo9 T C 1: 135,348,093 (GRCm39) probably null Het
Kazn A G 4: 141,878,195 (GRCm39) L185P probably damaging Het
Kcnh8 T C 17: 53,141,635 (GRCm39) S293P probably damaging Het
Lrp1b T C 2: 41,202,539 (GRCm39) T1191A probably damaging Het
Mnat1 A G 12: 73,228,705 (GRCm39) probably benign Het
Msx2 C T 13: 53,622,638 (GRCm39) probably benign Het
Ndufs2 T G 1: 171,064,798 (GRCm39) I317L probably benign Het
Nms T C 1: 38,981,006 (GRCm39) probably benign Het
Oosp3 T A 19: 11,678,286 (GRCm39) F87L probably benign Het
Pask A G 1: 93,262,329 (GRCm39) V177A probably benign Het
Poldip2 G T 11: 78,403,133 (GRCm39) probably benign Het
Prr14l A T 5: 32,987,549 (GRCm39) S649T possibly damaging Het
Slc6a18 T A 13: 73,825,984 (GRCm39) N22I probably damaging Het
Smco2 T A 6: 146,763,208 (GRCm39) S228T probably benign Het
Speer4a1 G A 5: 26,240,902 (GRCm39) Q197* probably null Het
Speg A G 1: 75,367,734 (GRCm39) K641R probably damaging Het
Strip2 G A 6: 29,928,553 (GRCm39) V286M probably damaging Het
Tnfrsf22 C T 7: 143,197,012 (GRCm39) probably null Het
Tnpo3 A G 6: 29,589,019 (GRCm39) probably benign Het
Top2b T A 14: 16,422,695 (GRCm38) N1377K probably benign Het
Trmt1 T A 8: 85,418,005 (GRCm39) probably null Het
Trpm1 A G 7: 63,858,723 (GRCm39) M266V possibly damaging Het
Vmn1r199 A G 13: 22,567,290 (GRCm39) T195A probably benign Het
Vmn2r10 A G 5: 109,145,571 (GRCm39) V512A probably benign Het
Zfp777 A G 6: 48,021,275 (GRCm39) F116L probably benign Het
Zp3r T A 1: 130,519,188 (GRCm39) K253* probably null Het
Other mutations in Cald1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Cald1 APN 6 34,739,196 (GRCm39) missense possibly damaging 0.66
IGL01456:Cald1 APN 6 34,741,931 (GRCm39) missense probably damaging 1.00
IGL01822:Cald1 APN 6 34,730,507 (GRCm39) missense probably damaging 0.99
IGL02307:Cald1 APN 6 34,730,390 (GRCm39) missense probably damaging 1.00
IGL03122:Cald1 APN 6 34,741,963 (GRCm39) missense probably damaging 1.00
R0060:Cald1 UTSW 6 34,692,394 (GRCm39) intron probably benign
R0071:Cald1 UTSW 6 34,735,069 (GRCm39) splice site probably benign
R0071:Cald1 UTSW 6 34,735,069 (GRCm39) splice site probably benign
R0701:Cald1 UTSW 6 34,723,108 (GRCm39) frame shift probably null
R0776:Cald1 UTSW 6 34,723,108 (GRCm39) frame shift probably null
R1053:Cald1 UTSW 6 34,732,577 (GRCm39) missense probably damaging 1.00
R1696:Cald1 UTSW 6 34,722,646 (GRCm39) missense probably damaging 1.00
R2025:Cald1 UTSW 6 34,723,108 (GRCm39) frame shift probably null
R2157:Cald1 UTSW 6 34,662,976 (GRCm39) missense possibly damaging 0.86
R2973:Cald1 UTSW 6 34,734,931 (GRCm39) unclassified probably benign
R3839:Cald1 UTSW 6 34,722,700 (GRCm39) missense probably damaging 1.00
R4116:Cald1 UTSW 6 34,722,654 (GRCm39) missense probably damaging 1.00
R4674:Cald1 UTSW 6 34,723,108 (GRCm39) frame shift probably null
R5140:Cald1 UTSW 6 34,730,515 (GRCm39) missense probably damaging 1.00
R5254:Cald1 UTSW 6 34,723,351 (GRCm39) intron probably benign
R5620:Cald1 UTSW 6 34,739,047 (GRCm39) missense probably damaging 1.00
R5648:Cald1 UTSW 6 34,739,267 (GRCm39) splice site probably null
R5651:Cald1 UTSW 6 34,739,255 (GRCm39) missense probably damaging 0.98
R5783:Cald1 UTSW 6 34,730,468 (GRCm39) missense possibly damaging 0.51
R5872:Cald1 UTSW 6 34,748,043 (GRCm39) nonsense probably null
R5999:Cald1 UTSW 6 34,723,273 (GRCm39) intron probably benign
R6218:Cald1 UTSW 6 34,724,863 (GRCm39) frame shift probably null
R6347:Cald1 UTSW 6 34,741,981 (GRCm39) missense probably damaging 1.00
R6598:Cald1 UTSW 6 34,723,575 (GRCm39) critical splice donor site probably null
R7120:Cald1 UTSW 6 34,663,011 (GRCm39) critical splice donor site probably null
R7147:Cald1 UTSW 6 34,723,231 (GRCm39) missense
R7385:Cald1 UTSW 6 34,663,000 (GRCm39) missense probably damaging 0.99
R7516:Cald1 UTSW 6 34,686,492 (GRCm39) start gained probably benign
R7841:Cald1 UTSW 6 34,722,696 (GRCm39) missense unknown
R8732:Cald1 UTSW 6 34,734,946 (GRCm39) missense unknown
R9151:Cald1 UTSW 6 34,732,682 (GRCm39) missense unknown
R9184:Cald1 UTSW 6 34,730,512 (GRCm39) missense unknown
R9529:Cald1 UTSW 6 34,662,947 (GRCm39) missense probably damaging 1.00
R9792:Cald1 UTSW 6 34,723,071 (GRCm39) missense
R9793:Cald1 UTSW 6 34,723,071 (GRCm39) missense
R9795:Cald1 UTSW 6 34,723,071 (GRCm39) missense
X0064:Cald1 UTSW 6 34,723,140 (GRCm39) intron probably benign
Posted On 2014-05-07