Incidental Mutation 'IGL02030:Ccer1'
ID184338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccer1
Ensembl Gene ENSMUSG00000047025
Gene Namecoiled-coil glutamate-rich protein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02030
Quality Score
Status
Chromosome10
Chromosomal Location97693059-97694923 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97693610 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 45 (Y45C)
Ref Sequence ENSEMBL: ENSMUSP00000050554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060703]
Predicted Effect unknown
Transcript: ENSMUST00000060703
AA Change: Y45C
SMART Domains Protein: ENSMUSP00000050554
Gene: ENSMUSG00000047025
AA Change: Y45C

DomainStartEndE-ValueType
Pfam:CCER1 4 218 5.9e-123 PFAM
coiled coil region 292 323 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220233
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,857 D532G probably benign Het
Adam29 C T 8: 55,872,122 M432I probably benign Het
Cbs A G 17: 31,625,489 probably null Het
Clu G A 14: 65,975,791 G209S probably benign Het
Ddx17 T C 15: 79,530,376 D530G probably benign Het
Ddx4 T C 13: 112,624,777 probably benign Het
Fry C T 5: 150,471,618 probably benign Het
Fut10 C T 8: 31,235,978 Q254* probably null Het
Gucy2e A G 11: 69,223,816 F1002S probably damaging Het
Hsd3b6 T C 3: 98,806,173 Y270C probably benign Het
Jup A G 11: 100,376,991 I502T probably damaging Het
Lrrc71 T A 3: 87,745,224 probably null Het
Mei1 T C 15: 82,115,743 V1127A probably benign Het
Ncstn A T 1: 172,072,457 probably benign Het
Nin T C 12: 70,045,268 R756G probably damaging Het
Notch2 C A 3: 98,099,421 probably null Het
Oacyl T C 18: 65,737,910 V394A probably damaging Het
Olfr1444 T C 19: 12,862,435 F220S probably benign Het
Olfr348 A G 2: 36,787,398 Y291C probably damaging Het
Olfr524 A G 7: 140,202,632 I46T probably damaging Het
Parn A G 16: 13,664,650 probably null Het
Rspo3 T G 10: 29,500,048 E173A probably damaging Het
Rusc2 T A 4: 43,416,095 V467E possibly damaging Het
Sema7a G A 9: 57,955,140 E209K possibly damaging Het
Uchl4 T C 9: 64,235,629 S131P probably benign Het
Usp54 T C 14: 20,565,946 I769V probably benign Het
Xirp2 T C 2: 67,508,981 M522T probably benign Het
Other mutations in Ccer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Ccer1 APN 10 97694539 missense probably benign 0.18
IGL01434:Ccer1 APN 10 97693597 missense unknown
IGL01895:Ccer1 APN 10 97694050 missense unknown
IGL02962:Ccer1 APN 10 97693840 missense unknown
IGL03352:Ccer1 APN 10 97693577 missense unknown
R1083:Ccer1 UTSW 10 97694658 missense possibly damaging 0.70
R1911:Ccer1 UTSW 10 97694677 missense possibly damaging 0.53
R3769:Ccer1 UTSW 10 97694552 missense probably damaging 1.00
R4364:Ccer1 UTSW 10 97694370 small deletion probably benign
R5737:Ccer1 UTSW 10 97694684 missense possibly damaging 0.53
R7154:Ccer1 UTSW 10 97694339 missense unknown
R7173:Ccer1 UTSW 10 97693355 start gained probably benign
R7413:Ccer1 UTSW 10 97693942 missense unknown
Posted On2014-05-07