Incidental Mutation 'IGL01434:Ccer1'
ID84275
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: 0.057) question?
Stock #IGL01434
Quality Score
Status
Chromosome10
Chromosomal Location97693059-97694923 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97693597 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 41 (S41P)
Ref Sequence ENSEMBL: ENSMUSP00000050554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060703]
Predicted Effect unknown
Transcript: ENSMUST00000060703
AA Change: S41P
SMART Domains Protein: ENSMUSP00000050554
Gene: ENSMUSG00000047025
AA Change: S41P

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,781,074 probably benign Het
Adcy7 A G 8: 88,324,844 N864S probably damaging Het
Anapc7 A G 5: 122,438,216 D302G probably benign Het
Atm A T 9: 53,507,807 C782S probably benign Het
Bicdl1 G A 5: 115,670,156 Q37* probably null Het
Cabin1 T C 10: 75,725,586 D1027G possibly damaging Het
Cbl T C 9: 44,164,206 I364V probably damaging Het
Cenpf G A 1: 189,657,868 Q1256* probably null Het
Copa T A 1: 172,119,561 I1093N probably benign Het
Cped1 C T 6: 22,017,005 L118F probably damaging Het
Dner T C 1: 84,384,010 H626R probably benign Het
Ears2 G A 7: 122,063,088 probably benign Het
Eif3c A G 7: 126,556,410 I562T probably damaging Het
Eml6 T C 11: 29,819,090 Y685C probably damaging Het
Fam71f1 T C 6: 29,320,701 V108A probably damaging Het
Gm5483 T A 16: 36,186,407 V37E probably benign Het
Gpt A G 15: 76,698,782 K321E probably damaging Het
Hspd1 C T 1: 55,081,126 G306R probably damaging Het
Kmt2c T C 5: 25,409,308 Y138C probably damaging Het
Lhcgr A G 17: 88,742,437 Y554H probably damaging Het
Nell1 A T 7: 50,701,208 K534N probably benign Het
Nob1 A G 8: 107,424,728 probably benign Het
Olfr45 G A 7: 140,691,618 A238T probably damaging Het
Phf12 C T 11: 78,023,559 P60L probably damaging Het
Prkdc A G 16: 15,713,587 E1358G probably benign Het
Rimbp3 A G 16: 17,211,702 T997A probably benign Het
Rsg1 T C 4: 141,218,653 V169A probably benign Het
Slc9a9 T A 9: 95,019,194 N393K possibly damaging Het
Sohlh2 T C 3: 55,195,161 S206P probably damaging Het
Stard10 G A 7: 101,321,980 V125M probably benign Het
Tff2 G T 17: 31,143,266 probably null Het
Tha1 T C 11: 117,868,599 T355A probably benign Het
Tmem120a G T 5: 135,737,010 F127L possibly damaging Het
Tmem41b A G 7: 109,978,702 probably benign Het
Tonsl T C 15: 76,631,102 D1028G probably benign Het
Other mutations in Ccer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Ccer1 APN 10 97694539 missense probably benign 0.18
IGL01895:Ccer1 APN 10 97694050 missense unknown
IGL02030:Ccer1 APN 10 97693610 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 On2013-11-11