Incidental Mutation 'R5865:Ccbe1'
ID 454149
Institutional Source Beutler Lab
Gene Symbol Ccbe1
Ensembl Gene ENSMUSG00000046318
Gene Name collagen and calcium binding EGF domains 1
Synonyms 9430093N24Rik, 4933426F18Rik
MMRRC Submission 044074-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5865 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 66189926-66424909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66216222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 167 (I167N)
Ref Sequence ENSEMBL: ENSMUSP00000117636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061103] [ENSMUST00000130300]
AlphaFold Q3MI99
Predicted Effect possibly damaging
Transcript: ENSMUST00000061103
AA Change: I167N

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052011
Gene: ENSMUSG00000046318
AA Change: I167N

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 possibly damaging
Transcript: ENSMUST00000130300
AA Change: I167N

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117636
Gene: ENSMUSG00000046318
AA Change: I167N

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 0.1123 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.7%
  • 20x: 88.7%
Validation Efficiency 91% (59/65)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,766,277 (GRCm39) V48M possibly damaging Het
Adamts2 T G 11: 50,694,781 (GRCm39) Y1189* probably null Het
Bpifb9a T C 2: 154,108,756 (GRCm39) I419T probably benign Het
Ccdc187 T C 2: 26,183,380 (GRCm39) T207A probably benign Het
Cd300lf G A 11: 115,017,126 (GRCm39) L66F probably damaging Het
Cenpk A G 13: 104,372,702 (GRCm39) *92W probably null Het
Col12a1 A T 9: 79,511,760 (GRCm39) S2950R probably benign Het
Dnah3 T C 7: 119,574,331 (GRCm39) T2154A probably benign Het
Ebna1bp2 A T 4: 118,478,332 (GRCm39) probably benign Het
Elac2 G T 11: 64,888,783 (GRCm39) C532F probably benign Het
Fam171a1 T A 2: 3,226,374 (GRCm39) D377E probably benign Het
Haus6 A G 4: 86,504,594 (GRCm39) C466R possibly damaging Het
Il4ra T C 7: 125,174,348 (GRCm39) S297P probably benign Het
Itgb4 C T 11: 115,881,748 (GRCm39) R766W probably damaging Het
Kank4 T C 4: 98,659,630 (GRCm39) Y816C possibly damaging Het
Kcnc4 A T 3: 107,365,515 (GRCm39) probably null Het
Kif21b C T 1: 136,078,875 (GRCm39) R408* probably null Het
Lrrc31 A G 3: 30,733,289 (GRCm39) V475A probably benign Het
Map2k1 C T 9: 64,098,548 (GRCm39) probably null Het
Mc3r T A 2: 172,091,592 (GRCm39) N271K possibly damaging Het
Ms4a14 A G 19: 11,281,581 (GRCm39) S326P possibly damaging Het
Muc6 T A 7: 141,236,769 (GRCm39) I358F probably damaging Het
Myo5c A G 9: 75,204,770 (GRCm39) D1541G probably damaging Het
Myof T C 19: 37,899,382 (GRCm39) S1793G probably damaging Het
Nfkb1 T A 3: 135,309,541 (GRCm39) T518S probably damaging Het
Nphs1 T A 7: 30,173,810 (GRCm39) I989N probably damaging Het
Or5m12 T C 2: 85,734,865 (GRCm39) T178A probably benign Het
Pcdha5 T C 18: 37,094,474 (GRCm39) F328L probably benign Het
Pclo T A 5: 14,764,492 (GRCm39) S4322T probably benign Het
Peg10 A G 6: 4,754,375 (GRCm39) N52S probably damaging Het
Phf10 A C 17: 15,175,272 (GRCm39) probably benign Het
Pip4p1 A G 14: 51,166,332 (GRCm39) probably benign Het
Psme4 T C 11: 30,741,993 (GRCm39) I152T possibly damaging Het
Ptpn18 T A 1: 34,510,644 (GRCm39) probably benign Het
Rufy4 A T 1: 74,185,914 (GRCm39) Y527F probably damaging Het
Snx32 T C 19: 5,546,382 (GRCm39) M293V probably benign Het
Sorl1 A T 9: 41,894,330 (GRCm39) L1827M possibly damaging Het
Sstr5 T A 17: 25,710,218 (GRCm39) D337V probably benign Het
Tcaf3 A G 6: 42,573,631 (GRCm39) F194L probably benign Het
Tcerg1 T A 18: 42,669,413 (GRCm39) W459R probably damaging Het
Tet2 T A 3: 133,192,860 (GRCm39) I525L probably benign Het
Trim43b C T 9: 88,967,659 (GRCm39) V325I probably benign Het
Txndc11 A T 16: 10,940,552 (GRCm39) I180K probably damaging Het
Vmn1r193 A G 13: 22,403,395 (GRCm39) L199P probably damaging Het
Vmn2r110 A G 17: 20,804,557 (GRCm39) M121T probably benign Het
Zfhx4 G C 3: 5,467,719 (GRCm39) A2626P probably damaging Het
Zfp445 C T 9: 122,682,552 (GRCm39) S463N probably benign Het
Zwilch T A 9: 64,080,190 (GRCm39) probably null 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
R0722:Ccbe1 UTSW 18 66,217,877 (GRCm39) missense probably damaging 1.00
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
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'- GGGCTCCCAAGTACTTATAATTTAC -3'
(R):5'- TGTTCATACCAATATAGAGGGACCAG -3'

Sequencing Primer
(F):5'- CACACACAATTACACACACATATATG -3'
(R):5'- ACCAGGGTCATGTTGGATGC -3'
Posted On 2017-02-10