Incidental Mutation 'IGL01895:Ccer1'
ID 179379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccer1
Ensembl Gene ENSMUSG00000047025
Gene Name coiled-coil glutamate-rich protein 1
Synonyms 4921510H08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL01895
Quality Score
Chromosome 10
Chromosomal Location 97528921-97530785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97529912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 192 (I192F)
Ref Sequence ENSEMBL: ENSMUSP00000050554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060703]
AlphaFold Q9CQL2
Predicted Effect unknown
Transcript: ENSMUST00000060703
AA Change: I192F
SMART Domains Protein: ENSMUSP00000050554
Gene: ENSMUSG00000047025
AA Change: I192F

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,678,482 (GRCm39) I56N possibly damaging Het
Akr1c13 A T 13: 4,255,372 (GRCm39) E321V possibly damaging Het
Atp8b3 A T 10: 80,357,662 (GRCm39) V1119D possibly damaging Het
Cacna1e G T 1: 154,319,646 (GRCm39) F1351L probably damaging Het
Cadps2 A G 6: 23,427,274 (GRCm39) W585R probably damaging Het
Ccdc113 C T 8: 96,263,086 (GRCm39) probably benign Het
Chd8 T C 14: 52,436,551 (GRCm39) N90S probably benign Het
Clca3a1 A T 3: 144,453,333 (GRCm39) C463* probably null Het
Cplane1 T A 15: 8,258,591 (GRCm39) V2279E possibly damaging Het
Cyp2c65 T A 19: 39,060,676 (GRCm39) C179S possibly damaging Het
Dennd4b A G 3: 90,182,874 (GRCm39) Q35R probably benign Het
Enpep T C 3: 129,063,983 (GRCm39) E928G possibly damaging Het
Fem1c T C 18: 46,638,629 (GRCm39) T458A probably benign Het
Fezf2 A T 14: 12,342,498 (GRCm38) *456R probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Iqcm T G 8: 76,615,188 (GRCm39) L423R probably damaging Het
Kcnc4 C A 3: 107,355,534 (GRCm39) V305L probably benign Het
Kif1a G A 1: 92,953,455 (GRCm39) T1337I possibly damaging Het
Lpxn A G 19: 12,810,450 (GRCm39) D298G probably damaging Het
Lypd8 A G 11: 58,281,046 (GRCm39) T203A possibly damaging Het
Mrps28 C T 3: 8,965,119 (GRCm39) V107M probably damaging Het
Myo15b A G 11: 115,774,324 (GRCm39) E586G possibly damaging Het
Pdzk1 C T 3: 96,776,417 (GRCm39) A459V possibly damaging Het
Rbpj A G 5: 53,808,728 (GRCm39) D285G probably damaging Het
Rimbp3 T C 16: 17,029,300 (GRCm39) L908P probably damaging Het
Samd4b T C 7: 28,101,334 (GRCm39) probably null Het
Slc28a2b A C 2: 122,355,572 (GRCm39) Y588S possibly damaging Het
Stau2 C T 1: 16,416,161 (GRCm39) G401S probably damaging Het
Trpa1 A T 1: 14,957,867 (GRCm39) I697K possibly damaging Het
Ttc17 A C 2: 94,205,491 (GRCm39) V285G possibly damaging Het
Unc5b A G 10: 60,602,864 (GRCm39) F845S probably damaging Het
Vmn1r19 A T 6: 57,382,245 (GRCm39) Q266L probably benign Het
Vmn2r106 T C 17: 20,499,227 (GRCm39) N228S probably benign Het
Vps13d A G 4: 144,882,836 (GRCm39) F919S possibly damaging Het
Zbtb38 C T 9: 96,570,461 (GRCm39) V208I probably benign Het
Zfp990 A T 4: 145,263,427 (GRCm39) T142S probably damaging Het
Zfp990 C A 4: 145,263,428 (GRCm39) T142N probably damaging Het
Other mutations in Ccer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Ccer1 APN 10 97,530,401 (GRCm39) missense probably benign 0.18
IGL01434:Ccer1 APN 10 97,529,459 (GRCm39) missense unknown
IGL02030:Ccer1 APN 10 97,529,472 (GRCm39) missense unknown
IGL02962:Ccer1 APN 10 97,529,702 (GRCm39) missense unknown
IGL03352:Ccer1 APN 10 97,529,439 (GRCm39) missense unknown
R1083:Ccer1 UTSW 10 97,530,520 (GRCm39) missense possibly damaging 0.70
R1911:Ccer1 UTSW 10 97,530,539 (GRCm39) missense possibly damaging 0.53
R3769:Ccer1 UTSW 10 97,530,414 (GRCm39) missense probably damaging 1.00
R4364:Ccer1 UTSW 10 97,530,232 (GRCm39) small deletion probably benign
R5737:Ccer1 UTSW 10 97,530,546 (GRCm39) missense possibly damaging 0.53
R7154:Ccer1 UTSW 10 97,530,201 (GRCm39) missense unknown
R7173:Ccer1 UTSW 10 97,529,217 (GRCm39) start gained probably benign
R7413:Ccer1 UTSW 10 97,529,804 (GRCm39) missense unknown
Posted On 2014-05-07