Incidental Mutation 'IGL01822:Cald1'
ID154576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cald1
Ensembl Gene ENSMUSG00000029761
Gene Namecaldesmon 1
Synonyms4833423D12Rik, C920027I18Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01822
Quality Score
Status
Chromosome6
Chromosomal Location34598500-34775473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34753572 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 269 (T269S)
Ref Sequence ENSEMBL: ENSMUSP00000031775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031775] [ENSMUST00000079391] [ENSMUST00000115021] [ENSMUST00000115026] [ENSMUST00000115027] [ENSMUST00000126181] [ENSMUST00000142512] [ENSMUST00000149009]
Predicted Effect probably damaging
Transcript: ENSMUST00000031775
AA Change: T269S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: T269S

DomainStartEndE-ValueType
Pfam:Caldesmon 25 542 5.7e-256 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000079391
AA Change: T249S
SMART Domains Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: T249S

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: T243S
SMART Domains Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: T243S

DomainStartEndE-ValueType
Pfam:Caldesmon 25 518 7.5e-259 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115026
AA Change: T249S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: T249S

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: T483S
SMART Domains Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: T483S

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: T118S
SMART Domains Protein: ENSMUSP00000117064
Gene: ENSMUSG00000029761
AA Change: T118S

DomainStartEndE-ValueType
Pfam:Caldesmon 1 210 4e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000126181
AA Change: T75S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121911
Gene: ENSMUSG00000029761
AA Change: T75S

DomainStartEndE-ValueType
Pfam:Caldesmon 1 138 7.6e-51 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000136907
AA Change: T291S
SMART Domains Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761
AA Change: T291S

DomainStartEndE-ValueType
Pfam:Caldesmon 50 354 4.6e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142512
AA Change: T249S

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761
AA Change: T249S

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Caldesmon 31 253 9.4e-97 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000142716
AA Change: T128S
SMART Domains Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761
AA Change: T128S

DomainStartEndE-ValueType
Pfam:Caldesmon 1 274 2.7e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146685
Predicted Effect unknown
Transcript: ENSMUST00000149009
AA Change: T243S
SMART Domains Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
AA Change: T243S

DomainStartEndE-ValueType
Pfam:Caldesmon 25 507 2e-247 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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cntnap5c T A 17: 58,055,705 I351N probably damaging Het
Dhcr7 T A 7: 143,845,499 I296N probably damaging Het
Dnah17 A G 11: 118,081,993 F2038S probably damaging Het
Dsel A G 1: 111,861,896 L303P probably damaging Het
Fabp12 G A 3: 10,246,022 R127* probably null Het
Fgf12 A T 16: 28,189,599 S150T possibly damaging Het
Fkbp15 A G 4: 62,352,504 M32T probably benign Het
Lrrc66 G A 5: 73,629,968 T13I probably benign Het
Mmgt2 T C 11: 62,665,006 V60A possibly damaging Het
Neb G T 2: 52,258,746 S2596R possibly damaging Het
Nfkbib T C 7: 28,761,709 D171G probably benign Het
Oas1a T C 5: 120,899,214 E250G probably benign Het
Olfr1197 A T 2: 88,728,792 I269N probably benign Het
Olfr134 C A 17: 38,175,448 D121E probably damaging Het
Rnf182 T C 13: 43,668,032 C20R probably damaging Het
Scn3a T C 2: 65,495,264 K970E probably damaging Het
Slc30a2 T A 4: 134,348,637 Y192N probably damaging Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Vmn2r100 T A 17: 19,504,838 C10S probably null Het
Vmn2r61 A T 7: 42,300,706 H850L probably benign Het
Vmn2r87 T C 10: 130,472,122 Y749C probably damaging Het
Wnt5b A T 6: 119,433,472 C336S probably damaging Het
Zfp398 G A 6: 47,866,271 R287Q probably damaging Het
Other mutations in Cald1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Cald1 APN 6 34762261 missense possibly damaging 0.66
IGL01456:Cald1 APN 6 34764996 missense probably damaging 1.00
IGL01959:Cald1 APN 6 34753468 missense probably damaging 1.00
IGL02307:Cald1 APN 6 34753455 missense probably damaging 1.00
IGL03122:Cald1 APN 6 34765028 missense probably damaging 1.00
R0060:Cald1 UTSW 6 34715459 intron probably benign
R0071:Cald1 UTSW 6 34758134 splice site probably benign
R0071:Cald1 UTSW 6 34758134 splice site probably benign
R0701:Cald1 UTSW 6 34746173 frame shift probably null
R0776:Cald1 UTSW 6 34746173 frame shift probably null
R1053:Cald1 UTSW 6 34755642 missense probably damaging 1.00
R1696:Cald1 UTSW 6 34745711 missense probably damaging 1.00
R2025:Cald1 UTSW 6 34746173 frame shift probably null
R2157:Cald1 UTSW 6 34686041 missense possibly damaging 0.86
R2973:Cald1 UTSW 6 34757996 unclassified probably benign
R3839:Cald1 UTSW 6 34745765 missense probably damaging 1.00
R4116:Cald1 UTSW 6 34745719 missense probably damaging 1.00
R4674:Cald1 UTSW 6 34746173 frame shift probably null
R5140:Cald1 UTSW 6 34753580 missense probably damaging 1.00
R5254:Cald1 UTSW 6 34746416 intron probably benign
R5620:Cald1 UTSW 6 34762112 missense probably damaging 1.00
R5648:Cald1 UTSW 6 34762332 splice site probably null
R5651:Cald1 UTSW 6 34762320 missense probably damaging 0.98
R5783:Cald1 UTSW 6 34753533 missense possibly damaging 0.51
R5872:Cald1 UTSW 6 34771108 nonsense probably null
R5999:Cald1 UTSW 6 34746338 intron probably benign
R6218:Cald1 UTSW 6 34747928 frame shift probably null
R6347:Cald1 UTSW 6 34765046 missense probably damaging 1.00
R6598:Cald1 UTSW 6 34746640 critical splice donor site probably null
R7120:Cald1 UTSW 6 34686076 critical splice donor site probably null
R7147:Cald1 UTSW 6 34746296 missense
R7385:Cald1 UTSW 6 34686065 missense probably damaging 0.99
R7516:Cald1 UTSW 6 34709557 start gained probably benign
R7841:Cald1 UTSW 6 34745761 missense unknown
X0064:Cald1 UTSW 6 34746205 intron probably benign
Posted On2014-02-04