Incidental Mutation 'R0575:Ccbe1'
ID 56205
Institutional Source Beutler Lab
Gene Symbol Ccbe1
Ensembl Gene ENSMUSG00000046318
Gene Name collagen and calcium binding EGF domains 1
Synonyms 9430093N24Rik, 4933426F18Rik
MMRRC Submission 038765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0575 (G1)
Quality Score 191
Status Validated
Chromosome 18
Chromosomal Location 66189926-66424909 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 66227066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061103] [ENSMUST00000130300]
AlphaFold Q3MI99
Predicted Effect probably benign
Transcript: ENSMUST00000061103
SMART Domains Protein: ENSMUSP00000052011
Gene: ENSMUSG00000046318

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 benign
Transcript: ENSMUST00000130300
SMART Domains Protein: ENSMUSP00000117636
Gene: ENSMUSG00000046318

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Atf7ip2 G T 16: 10,055,075 (GRCm39) G281C probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Frs3 A G 17: 48,014,648 (GRCm39) H447R possibly damaging Het
Gmds T G 13: 32,124,566 (GRCm39) Q264P probably damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or2y1b G A 11: 49,208,880 (GRCm39) C169Y probably damaging Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Pom121l2 T G 13: 22,168,338 (GRCm39) F870V probably damaging Het
Prob1 T C 18: 35,787,774 (GRCm39) D160G possibly damaging Het
Spa17 T C 9: 37,514,689 (GRCm39) K133E probably damaging Het
Strbp T A 2: 37,530,885 (GRCm39) D123V possibly damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q probably damaging 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
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
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'- ACAGCTTGCTAAGCATGGACCC -3'
(R):5'- TGCTTTCCTTGAGCACACAGCTTAC -3'

Sequencing Primer
(F):5'- CCAATCTAAGCATGTCAGTGAGTC -3'
(R):5'- AATCTACCTTGTGGGACCCAG -3'
Posted On 2013-07-11