Incidental Mutation 'R0722:Ccbe1'
ID 63583
Institutional Source Beutler Lab
Gene Symbol Ccbe1
Ensembl Gene ENSMUSG00000046318
Gene Name collagen and calcium binding EGF domains 1
Synonyms 9430093N24Rik, 4933426F18Rik
MMRRC Submission 038904-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0722 (G1)
Quality Score 165
Status Validated
Chromosome 18
Chromosomal Location 66189926-66424909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66217877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 112 (C112Y)
Ref Sequence ENSEMBL: ENSMUSP00000117636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061103] [ENSMUST00000130300]
AlphaFold Q3MI99
Predicted Effect probably damaging
Transcript: ENSMUST00000061103
AA Change: C112Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052011
Gene: ENSMUSG00000046318
AA Change: C112Y

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
EGF 93 134 7.95e0 SMART
EGF_CA 135 176 1.69e-12 SMART
Pfam:Collagen 246 295 7.7e-9 PFAM
Pfam:Collagen 299 337 1.2e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130300
AA Change: C112Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117636
Gene: ENSMUSG00000046318
AA Change: C112Y

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
EGF 93 134 7.95e0 SMART
EGF_CA 135 176 1.69e-12 SMART
Pfam:Collagen 246 295 7.4e-9 PFAM
low complexity region 302 317 N/A INTRINSIC
low complexity region 325 336 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146610
Meta Mutation Damage Score 0.8310 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 T C 11: 80,047,810 (GRCm39) F89L possibly damaging Het
Akr1c13 A G 13: 4,247,931 (GRCm39) probably null Het
Atp10a A G 7: 58,465,931 (GRCm39) I1053V possibly damaging Het
Bmper G T 9: 23,285,224 (GRCm39) V258L probably benign Het
Brd4 T C 17: 32,431,956 (GRCm39) H636R possibly damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccdc28b T A 4: 129,514,945 (GRCm39) probably null Het
Cd320 T C 17: 34,065,004 (GRCm39) S46P possibly damaging Het
Cfap251 T A 5: 123,394,248 (GRCm39) V379E probably damaging Het
Cfap44 G A 16: 44,225,039 (GRCm39) E95K possibly damaging Het
Clpp T C 17: 57,299,901 (GRCm39) V144A probably damaging Het
Crtam A T 9: 40,903,912 (GRCm39) C96S probably damaging Het
Dcst1 C T 3: 89,261,112 (GRCm39) R480H probably benign Het
Dock2 A T 11: 34,414,970 (GRCm39) probably benign Het
Ermard A G 17: 15,242,390 (GRCm39) T189A probably benign Het
Gm10840 A G 11: 106,051,902 (GRCm39) probably benign Het
Gm4845 T A 1: 141,184,598 (GRCm39) noncoding transcript Het
Heatr1 A G 13: 12,420,918 (GRCm39) E403G probably benign Het
Herc4 A G 10: 63,121,844 (GRCm39) I399V probably null Het
Htr1f A G 16: 64,746,254 (GRCm39) I346T probably damaging Het
Igf2r T C 17: 12,934,382 (GRCm39) probably null Het
Jmy G A 13: 93,589,325 (GRCm39) T644I probably benign Het
Kcnn2 T C 18: 45,692,543 (GRCm39) C40R possibly damaging Het
Krt13 T G 11: 100,009,979 (GRCm39) K297T probably damaging Het
Lrba T C 3: 86,513,296 (GRCm39) probably null Het
Lrrc8b T C 5: 105,627,978 (GRCm39) V108A possibly damaging Het
Lrrc8c T A 5: 105,727,414 (GRCm39) V26E probably damaging Het
Or10g6 A G 9: 39,934,295 (GRCm39) D202G probably damaging Het
Or5p6 A G 7: 107,631,541 (GRCm39) F3S probably benign Het
Pcna A G 2: 132,093,155 (GRCm39) probably benign Het
Pgm2 A T 5: 64,265,022 (GRCm39) R348* probably null Het
Pikfyve T G 1: 65,292,682 (GRCm39) S1378A probably damaging Het
Pkp2 T C 16: 16,064,892 (GRCm39) V472A probably benign Het
Pld5 A G 1: 175,803,081 (GRCm39) F395L probably benign Het
Plekhb1 A T 7: 100,294,810 (GRCm39) Y169N probably damaging Het
Polr2c T A 8: 95,589,265 (GRCm39) Y186N probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prr5l A G 2: 101,547,819 (GRCm39) probably benign Het
Ptbp2 C T 3: 119,514,570 (GRCm39) R419Q possibly damaging Het
Ralgapa2 A G 2: 146,230,451 (GRCm39) V1038A probably damaging Het
Rassf2 A G 2: 131,844,830 (GRCm39) V204A probably damaging Het
Slc22a22 T C 15: 57,119,949 (GRCm39) probably null Het
Slit1 T C 19: 41,596,874 (GRCm39) Y1075C probably damaging Het
Smc5 C A 19: 23,186,291 (GRCm39) L1055F probably damaging Het
Spidr A G 16: 15,730,645 (GRCm39) F620S probably damaging Het
Susd1 A G 4: 59,379,749 (GRCm39) S293P possibly damaging Het
Tepsin A G 11: 119,986,163 (GRCm39) probably benign Het
Vmn2r68 A T 7: 84,870,794 (GRCm39) L830I possibly damaging Het
Vtn A G 11: 78,391,680 (GRCm39) probably benign Het
Zfp267 C T 3: 36,219,218 (GRCm39) H414Y probably benign Het
Zfp280d T G 9: 72,219,383 (GRCm39) S162A possibly damaging Het
Zfp608 T G 18: 55,033,306 (GRCm39) K409T probably damaging Het
Zfp738 A T 13: 67,819,643 (GRCm39) M116K probably benign Het
Other mutations in Ccbe1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Ccbe1 APN 18 66,199,798 (GRCm39) critical splice donor site probably null
R0032:Ccbe1 UTSW 18 66,424,723 (GRCm39) missense possibly damaging 0.81
R0575:Ccbe1 UTSW 18 66,227,066 (GRCm39) splice site probably benign
R3122:Ccbe1 UTSW 18 66,199,900 (GRCm39) missense probably benign 0.02
R4642:Ccbe1 UTSW 18 66,424,654 (GRCm39) intron probably benign
R5218:Ccbe1 UTSW 18 66,216,229 (GRCm39) missense probably damaging 1.00
R5334:Ccbe1 UTSW 18 66,216,316 (GRCm39) missense probably damaging 0.99
R5369:Ccbe1 UTSW 18 66,194,485 (GRCm39) missense probably benign 0.00
R5806:Ccbe1 UTSW 18 66,209,426 (GRCm39) nonsense probably null
R5865:Ccbe1 UTSW 18 66,216,222 (GRCm39) missense possibly damaging 0.48
R6752:Ccbe1 UTSW 18 66,209,378 (GRCm39) critical splice donor site probably null
R6763:Ccbe1 UTSW 18 66,194,459 (GRCm39) missense possibly damaging 0.65
R7226:Ccbe1 UTSW 18 66,216,199 (GRCm39) missense probably damaging 1.00
R7807:Ccbe1 UTSW 18 66,199,828 (GRCm39) missense probably damaging 1.00
R7878:Ccbe1 UTSW 18 66,209,462 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACACACTAGAGCTGCTCCTCTGAAC -3'
(R):5'- TGGAGAGGCCGTGCATTAATCATC -3'

Sequencing Primer
(F):5'- CTGAACTGGTCCTGCTGC -3'
(R):5'- GAGGCCGTGCATTAATCATCTATTG -3'
Posted On 2013-07-30