Incidental Mutation 'IGL01750:Ccz1'
ID153113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccz1
Ensembl Gene ENSMUSG00000029617
Gene NameCCZ1 vacuolar protein trafficking and biogenesis associated
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.785) question?
Stock #IGL01750
Quality Score
Status
Chromosome5
Chromosomal Location143987909-144014877 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 144004062 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 225 (Y225N)
Ref Sequence ENSEMBL: ENSMUSP00000031621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031621]
Predicted Effect probably damaging
Transcript: ENSMUST00000031621
AA Change: Y225N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031621
Gene: ENSMUSG00000029617
AA Change: Y225N

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:DUF1712 25 422 3.7e-97 PFAM
Pfam:DUF1712 398 477 5.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200669
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 A G 7: 81,092,282 R616G probably damaging Het
BC030867 T C 11: 102,254,951 probably benign Het
Cacna1b G A 2: 24,654,395 P1260S probably damaging Het
Col15a1 C T 4: 47,303,897 P1101S probably damaging Het
Cyp2d22 T A 15: 82,374,369 H97L probably benign Het
Emsy G A 7: 98,619,301 S511F probably damaging Het
Fnbp1l G T 3: 122,544,677 Y351* probably null Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Hook2 T C 8: 84,993,236 probably null Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Kmt2d G A 15: 98,853,168 probably benign Het
Lpin1 T C 12: 16,577,176 N123S probably benign Het
Man2c1 T C 9: 57,140,780 probably null Het
Obscn T C 11: 59,031,639 E6558G probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr531 T C 7: 140,400,657 T130A probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcdh7 A G 5: 57,720,422 T440A probably damaging Het
Pitx1 A G 13: 55,826,491 Y176H probably damaging Het
Plec A G 15: 76,173,389 V4116A probably damaging Het
Polrmt A G 10: 79,739,846 V617A possibly damaging Het
Pprc1 T C 19: 46,071,829 probably benign Het
Rbm19 G A 5: 120,118,792 A57T probably benign Het
Rin1 T C 19: 5,052,036 I134T possibly damaging Het
Thumpd2 G A 17: 81,054,386 A137V probably benign Het
Tle4 T C 19: 14,449,789 Y756C probably damaging Het
Tln1 A G 4: 43,545,435 L986P probably damaging Het
Tmem132c C A 5: 127,462,959 Q350K possibly damaging Het
Zfp474 A G 18: 52,639,277 N334S possibly damaging Het
Other mutations in Ccz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Ccz1 APN 5 144012895 missense probably damaging 0.99
3-1:Ccz1 UTSW 5 143990764 missense probably benign 0.00
R0128:Ccz1 UTSW 5 144009294 splice site probably benign
R1456:Ccz1 UTSW 5 144011018 splice site probably benign
R2511:Ccz1 UTSW 5 144012997 missense probably damaging 1.00
R4691:Ccz1 UTSW 5 143991562 missense possibly damaging 0.96
R4858:Ccz1 UTSW 5 144012810 missense probably damaging 0.97
R5761:Ccz1 UTSW 5 143992510 missense probably damaging 1.00
R6260:Ccz1 UTSW 5 144004041 critical splice donor site probably null
R7286:Ccz1 UTSW 5 144013079 missense probably damaging 1.00
R7343:Ccz1 UTSW 5 143998182 missense probably damaging 1.00
R7488:Ccz1 UTSW 5 143991583 missense probably damaging 1.00
R7606:Ccz1 UTSW 5 144014808 missense probably benign 0.38
R8729:Ccz1 UTSW 5 144011492 missense probably damaging 0.99
R8753:Ccz1 UTSW 5 143988232 missense probably benign 0.44
R8840:Ccz1 UTSW 5 144004164 missense probably damaging 0.98
Posted On2014-02-04