Incidental Mutation 'R6218:Cald1'
ID 503836
Institutional Source Beutler Lab
Gene Symbol Cald1
Ensembl Gene ENSMUSG00000029761
Gene Name caldesmon 1
Synonyms C920027I18Rik, 4833423D12Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6218 (G1)
Quality Score 159.468
Status Validated
Chromosome 6
Chromosomal Location 34575433-34752404 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CAAAA to CAAA at 34724863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031775] [ENSMUST00000079391] [ENSMUST00000115021] [ENSMUST00000115026] [ENSMUST00000115027] [ENSMUST00000126181] [ENSMUST00000142512] [ENSMUST00000149009]
AlphaFold E9QA15
Predicted Effect probably null
Transcript: ENSMUST00000031775
SMART Domains Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 25 542 5.7e-256 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079391
SMART Domains Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761

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

DomainStartEndE-ValueType
Pfam:Caldesmon 25 518 7.5e-259 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115026
SMART Domains Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761

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

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 probably null
Transcript: ENSMUST00000123823
SMART Domains Protein: ENSMUSP00000117064
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 1 210 4e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000126181
SMART Domains Protein: ENSMUSP00000121911
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 1 138 7.6e-51 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000136907
SMART Domains Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 50 354 4.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142512
SMART Domains Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Caldesmon 31 253 9.4e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146685
Predicted Effect probably benign
Transcript: ENSMUST00000149009
SMART Domains Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 25 507 2e-247 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142716
SMART Domains Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 1 274 2.7e-63 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,728,730 (GRCm39) Q38K probably benign Het
9930111J21Rik2 A T 11: 48,910,134 (GRCm39) N766K probably benign Het
Adam15 A C 3: 89,251,190 (GRCm39) I505S probably benign Het
Apc2 T C 10: 80,142,254 (GRCm39) M391T probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bclaf1 A G 10: 20,210,374 (GRCm39) S840G probably benign Het
Cacna2d4 A G 6: 119,216,021 (GRCm39) Y96C probably damaging Het
Ddhd1 A G 14: 45,851,633 (GRCm39) L141P probably damaging Het
Dnaaf3 A T 7: 4,526,671 (GRCm39) S469T probably benign Het
Dzip3 A T 16: 48,778,828 (GRCm39) M323K possibly damaging Het
Eci2 T A 13: 35,177,048 (GRCm39) probably null Het
Fam227b A T 2: 125,968,882 (GRCm39) V64E probably damaging Het
Galnt2 A G 8: 125,070,054 (GRCm39) I524V probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm3443 T A 19: 21,533,110 (GRCm39) S25T probably damaging Het
Gpr22 T A 12: 31,761,616 (GRCm39) K14* probably null Het
Grip1 T C 10: 119,822,251 (GRCm39) S405P possibly damaging Het
Helz2 T C 2: 180,877,738 (GRCm39) H1020R probably damaging Het
Helz2 C A 2: 180,874,087 (GRCm39) V2136L probably benign Het
Il36rn G A 2: 24,167,502 (GRCm39) probably benign Het
Iqsec1 T A 6: 90,666,617 (GRCm39) S607C probably damaging Het
Irag1 G A 7: 110,476,112 (GRCm39) T819M probably benign Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
L3mbtl3 T C 10: 26,168,645 (GRCm39) I595V unknown Het
Large2 T C 2: 92,200,981 (GRCm39) D65G probably damaging Het
Lrrfip1 T C 1: 91,009,881 (GRCm39) Y122H probably damaging Het
Map1b A T 13: 99,569,714 (GRCm39) D1002E unknown Het
Mink1 C T 11: 70,489,720 (GRCm39) T59I possibly damaging Het
Myo7b T C 18: 32,092,507 (GRCm39) N2097D probably benign Het
Nbea C A 3: 55,535,905 (GRCm39) C2893F probably damaging Het
Nlgn1 A T 3: 25,490,257 (GRCm39) V490E probably damaging Het
Or2w1b G A 13: 21,300,401 (GRCm39) E180K probably damaging Het
Or2y3 A G 17: 38,393,620 (GRCm39) M83T probably damaging Het
Or4c123 G T 2: 89,127,306 (GRCm39) H103N probably damaging Het
Or4f62 T C 2: 111,986,701 (GRCm39) I135T probably damaging Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Pctp A G 11: 89,878,144 (GRCm39) I130T probably benign Het
Pdcl3 T C 1: 39,027,152 (GRCm39) probably null Het
Pheta2 T A 15: 82,227,917 (GRCm39) H145Q probably benign Het
Pira12 A T 7: 3,897,031 (GRCm39) S602T possibly damaging Het
Pkp1 T C 1: 135,807,646 (GRCm39) K541E probably damaging Het
Plekhh2 G A 17: 84,898,992 (GRCm39) V990I probably benign Het
Ppp1r3a A T 6: 14,718,430 (GRCm39) V828D probably damaging Het
Prrc2b T C 2: 32,098,823 (GRCm39) Y712H probably damaging Het
Prune2 T C 19: 17,098,926 (GRCm39) S1477P probably benign Het
Psma5 A G 3: 108,187,118 (GRCm39) K239R probably benign Het
Rhobtb1 G C 10: 69,106,286 (GRCm39) A284P probably benign Het
Samsn1 G A 16: 75,742,162 (GRCm39) noncoding transcript Het
Scel A G 14: 103,809,478 (GRCm39) T273A probably benign Het
Slc22a5 T A 11: 53,782,444 (GRCm39) probably benign Het
Slc25a37 A T 14: 69,486,953 (GRCm39) M110K possibly damaging Het
Slc6a2 A T 8: 93,708,609 (GRCm39) M242L probably benign Het
Slc8a3 C A 12: 81,246,341 (GRCm39) W904L probably benign Het
Ss18l1 G A 2: 179,696,905 (GRCm39) V109I probably benign Het
Tbx5 C T 5: 119,991,663 (GRCm39) H245Y probably damaging Het
Thumpd2 C A 17: 81,360,342 (GRCm39) L244F probably damaging Het
Tmem107 T A 11: 68,962,241 (GRCm39) V66E probably damaging Het
Tnr T C 1: 159,715,884 (GRCm39) V882A possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttbk1 A G 17: 46,781,733 (GRCm39) V340A possibly damaging Het
Veph1 T C 3: 66,162,481 (GRCm39) E59G probably damaging Het
Vmn1r234 T A 17: 21,449,983 (GRCm39) M299K possibly damaging Het
Vps13b T C 15: 35,770,610 (GRCm39) Y2018H probably benign Het
Zbtb11 A G 16: 55,818,436 (GRCm39) E620G probably benign Het
Zfp418 A G 7: 7,185,627 (GRCm39) H530R possibly damaging Het
Zfp764l1 C T 7: 126,992,581 (GRCm39) A10T possibly damaging 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
IGL01959:Cald1 APN 6 34,730,403 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCTGATGACAAGCCACTAGC -3'
(R):5'- TGGAGGCACCTATACAATCTCATCAG -3'

Sequencing Primer
(F):5'- ACTAGCACCAGGTACCACTG -3'
(R):5'- GTGACTCATGAGCCACAGTCTG -3'
Posted On 2018-02-27