Incidental Mutation 'IGL01133:Ccer1'
ID 52146
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 # IGL01133
Quality Score
Status
Chromosome 10
Chromosomal Location 97528921-97530785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97530401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 355 (F355L)
Ref Sequence ENSEMBL: ENSMUSP00000050554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060703]
AlphaFold Q9CQL2
Predicted Effect probably benign
Transcript: ENSMUST00000060703
AA Change: F355L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000050554
Gene: ENSMUSG00000047025
AA Change: F355L

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adam4 T C 12: 81,468,220 (GRCm39) T134A possibly damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cartpt T G 13: 100,036,548 (GRCm39) I67L probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Cert1 A G 13: 96,751,310 (GRCm39) E320G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap299 T C 5: 98,646,240 (GRCm39) probably null Het
Cfap36 A C 11: 29,184,414 (GRCm39) V114G probably damaging Het
Cyp2b9 G A 7: 25,909,660 (GRCm39) G476D probably damaging Het
Eif3l T C 15: 78,961,120 (GRCm39) Y58H possibly damaging Het
Gapvd1 T C 2: 34,615,410 (GRCm39) Y411C probably damaging Het
Gm27029 G T 11: 101,302,786 (GRCm39) F236L possibly damaging Het
Golga1 T C 2: 38,913,484 (GRCm39) T501A probably benign Het
Heg1 C T 16: 33,547,657 (GRCm39) H815Y probably benign Het
Krt1 A T 15: 101,756,628 (GRCm39) D298E probably damaging Het
Mecr T A 4: 131,570,907 (GRCm39) S32T probably benign Het
Med1 A T 11: 98,048,812 (GRCm39) Y661* probably null Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Pla2g12b G T 10: 59,252,239 (GRCm39) A37S probably benign Het
Plekha7 G T 7: 115,744,476 (GRCm39) probably null Het
Ralgapa1 T C 12: 55,689,133 (GRCm39) I1989V probably damaging Het
Ralgapa1 T C 12: 55,689,144 (GRCm39) H1938R probably damaging Het
Sanbr A T 11: 23,545,434 (GRCm39) D486E probably damaging Het
Sec31b A G 19: 44,515,480 (GRCm39) F309S probably damaging Het
Serpina3a T C 12: 104,087,758 (GRCm39) I227T probably benign Het
Slc1a3 A G 15: 8,675,171 (GRCm39) I278T probably damaging Het
Slc1a3 T C 15: 8,680,477 (GRCm39) Y127C probably damaging Het
Spen T C 4: 141,217,212 (GRCm39) K449R unknown Het
Thoc2l A G 5: 104,665,528 (GRCm39) T17A probably benign Het
Tmem130 A G 5: 144,689,255 (GRCm39) S129P probably damaging Het
Trim68 A T 7: 102,328,348 (GRCm39) probably null Het
Vdac3-ps1 T C 13: 18,206,034 (GRCm39) noncoding transcript Het
Vmn2r75 A G 7: 85,797,240 (GRCm39) probably benign Het
Zbtb9 G T 17: 27,193,985 (GRCm39) probably benign Het
Zfp568 T A 7: 29,687,233 (GRCm39) probably null Het
Other mutations in Ccer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Ccer1 APN 10 97,529,459 (GRCm39) missense unknown
IGL01895:Ccer1 APN 10 97,529,912 (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 2013-06-21