Incidental Mutation 'R7147:Cald1'
ID 553868
Institutional Source Beutler Lab
Gene Symbol Cald1
Ensembl Gene ENSMUSG00000029761
Gene Name caldesmon 1
Synonyms C920027I18Rik, 4833423D12Rik
MMRRC Submission 045224-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7147 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 34575433-34752404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34723231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 105 (Q105L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031775] [ENSMUST00000079391] [ENSMUST00000115021] [ENSMUST00000115026] [ENSMUST00000115027] [ENSMUST00000126181] [ENSMUST00000142512] [ENSMUST00000149009]
AlphaFold E9QA15
Predicted Effect probably benign
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 unknown
Transcript: ENSMUST00000115027
AA Change: Q299L
SMART Domains Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: Q299L

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 benign
Transcript: ENSMUST00000123823
SMART Domains Protein: ENSMUSP00000117064
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 1 210 4e-29 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761
AA Change: Q105L

DomainStartEndE-ValueType
Pfam:Caldesmon 50 354 4.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126181
SMART Domains Protein: ENSMUSP00000121911
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 1 138 7.6e-51 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 probably benign
Transcript: ENSMUST00000142716
SMART Domains Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 1 274 2.7e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149009
SMART Domains Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761

DomainStartEndE-ValueType
Pfam:Caldesmon 25 507 2e-247 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 C T 14: 56,017,182 (GRCm39) G303D probably damaging Het
Adgra3 C T 5: 50,118,587 (GRCm39) G987D probably damaging Het
Akap11 A G 14: 78,748,905 (GRCm39) S1161P Het
Ampd3 G A 7: 110,404,059 (GRCm39) E528K probably damaging Het
Arl8b G A 6: 108,791,976 (GRCm39) R79Q probably damaging Het
Atf4 AAGCGGGCTGAGC AAGC 15: 80,141,500 (GRCm39) probably benign Het
Casd1 T C 6: 4,624,187 (GRCm39) Y327H probably benign Het
Chodl T A 16: 78,743,629 (GRCm39) C239S probably damaging Het
D130043K22Rik A T 13: 25,066,546 (GRCm39) H781L probably benign Het
Dlg1 A T 16: 31,610,672 (GRCm39) M318L probably benign Het
Dlgap1 T C 17: 70,969,753 (GRCm39) S520P probably benign Het
Dmxl2 T C 9: 54,324,013 (GRCm39) I950V probably benign Het
Dnah17 T A 11: 117,985,755 (GRCm39) T1441S probably benign Het
Dock7 A T 4: 98,849,654 (GRCm39) N1638K unknown Het
Ect2 A T 3: 27,204,239 (GRCm39) D23E probably benign Het
Ephx1 T A 1: 180,829,384 (GRCm39) T55S probably damaging Het
F11 T C 8: 45,703,183 (GRCm39) Y169C probably damaging Het
Fbxw27 A G 9: 109,618,391 (GRCm39) probably null Het
Fhl5 T A 4: 25,213,777 (GRCm39) probably null Het
Gm5145 G A 17: 20,791,323 (GRCm39) E234K probably damaging Het
Gpr39 G A 1: 125,800,238 (GRCm39) D330N possibly damaging Het
Greb1 C T 12: 16,783,428 (GRCm39) R102H probably damaging Het
H4c17 A G 13: 21,996,159 (GRCm39) D69G probably damaging Het
Ighmbp2 T C 19: 3,321,676 (GRCm39) K361R probably benign Het
Inpp4b A G 8: 82,629,400 (GRCm39) D245G probably damaging Het
Ints14 T C 9: 64,891,267 (GRCm39) V416A possibly damaging Het
Kif21a A G 15: 90,865,086 (GRCm39) S529P probably benign Het
Limk1 A G 5: 134,686,195 (GRCm39) M609T probably benign Het
Lrrc75a G A 11: 62,496,795 (GRCm39) P256S probably damaging Het
Mcc T C 18: 44,626,580 (GRCm39) R339G probably damaging Het
Mdga1 C T 17: 30,065,495 (GRCm39) W371* probably null Het
Mei4 T A 9: 81,809,649 (GRCm39) L244Q probably damaging Het
Mical2 C T 7: 111,922,810 (GRCm39) P605L possibly damaging Het
Mrgprf G T 7: 144,862,128 (GRCm39) R230L possibly damaging Het
Nlgn1 T A 3: 26,187,509 (GRCm39) R125S probably benign Het
Or52h7 A G 7: 104,213,273 (GRCm39) probably benign Het
Papola A T 12: 105,774,897 (GRCm39) probably benign Het
Pold2 T C 11: 5,823,095 (GRCm39) D360G probably benign Het
Prr12 T C 7: 44,683,274 (GRCm39) R1797G unknown Het
Psmg2 C T 18: 67,786,338 (GRCm39) P233S probably benign Het
Ptprh A G 7: 4,553,781 (GRCm39) W857R probably damaging Het
Raet1e A T 10: 22,057,179 (GRCm39) M168L probably benign Het
Rhbdl2 A T 4: 123,703,908 (GRCm39) Y61F probably damaging Het
Sacm1l A G 9: 123,398,016 (GRCm39) N236S probably damaging Het
Sbf2 A T 7: 110,046,268 (GRCm39) S310T probably benign Het
Sdr42e2 A T 7: 120,412,238 (GRCm39) R33S probably damaging Het
Sh3d19 T A 3: 86,011,584 (GRCm39) I390N possibly damaging Het
Slco3a1 A G 7: 74,154,042 (GRCm39) Y177H probably damaging Het
Smo G A 6: 29,758,448 (GRCm39) G531D possibly damaging Het
Snx25 A C 8: 46,558,233 (GRCm39) V258G probably damaging Het
Spata31d1b T A 13: 59,866,028 (GRCm39) S1059T probably benign Het
Srgap2 C T 1: 131,238,332 (GRCm39) C274Y Het
Srrm1 A G 4: 135,074,137 (GRCm39) I48T probably damaging Het
Syne1 A T 10: 5,199,340 (GRCm39) V3719E probably damaging Het
Tcerg1 T A 18: 42,683,128 (GRCm39) M616K probably benign Het
Tgtp2 G C 11: 48,950,135 (GRCm39) R146G probably damaging Het
Tie1 A T 4: 118,341,610 (GRCm39) V234D probably damaging Het
Tom1 A G 8: 75,783,895 (GRCm39) N293S probably damaging Het
Trim13 A T 14: 61,842,080 (GRCm39) K32N probably damaging Het
Trim6 G A 7: 103,874,777 (GRCm39) V5I probably benign Het
Vps11 A T 9: 44,266,379 (GRCm39) L436* probably null Het
Vps50 C T 6: 3,567,750 (GRCm39) Q549* probably null Het
Vtcn1 T A 3: 100,791,210 (GRCm39) F83I probably damaging Het
Zfp131 T C 13: 120,228,079 (GRCm39) T523A probably benign Het
Zfp758 A T 17: 22,594,981 (GRCm39) Y489F possibly damaging Het
Zfp804a T C 2: 82,088,531 (GRCm39) Y787H probably benign Het
Zfp9 C T 6: 118,441,963 (GRCm39) C233Y probably 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
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
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'- CAGGTCAGCGCAGAAGAGTC -3'
(R):5'- CTCATGAGTCACAGGCATCAC -3'

Sequencing Primer
(F):5'- TCAGCGCAGAAGAGTCCAAAATAG -3'
(R):5'- CACAGTAGGTGCACAGTGCTTAC -3'
Posted On 2019-05-15