Incidental Mutation 'IGL00597:Chac1'
ID 9656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chac1
Ensembl Gene ENSMUSG00000027313
Gene Name ChaC, cation transport regulator 1
Synonyms 1810008K03Rik, Botch
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00597
Quality Score
Status
Chromosome 2
Chromosomal Location 119181723-119184807 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119184040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 214 (Y214C)
Ref Sequence ENSEMBL: ENSMUSP00000028780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028780]
AlphaFold Q8R3J5
Predicted Effect probably benign
Transcript: ENSMUST00000028780
AA Change: Y214C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: Y214C

DomainStartEndE-ValueType
low complexity region 5 25 N/A INTRINSIC
Pfam:ChaC 34 209 2.2e-71 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdkrb1 A T 12: 105,571,210 (GRCm39) I259F probably damaging Het
Ctnnd2 A C 15: 30,647,287 (GRCm39) T328P possibly damaging Het
Gart A G 16: 91,435,677 (GRCm39) S179P possibly damaging Het
Gbp9 A G 5: 105,242,364 (GRCm39) V125A probably damaging Het
Gpc6 T A 14: 118,188,646 (GRCm39) S427T probably benign Het
Ifna7 A T 4: 88,734,675 (GRCm39) I71F probably benign Het
Kcnip1 A T 11: 33,593,289 (GRCm39) probably benign Het
Kcnip1 A T 11: 33,593,294 (GRCm39) probably null Het
Krt86 A G 15: 101,374,107 (GRCm39) K222R probably benign Het
Nacad G A 11: 6,550,921 (GRCm39) P757S probably benign Het
Obox7 C A 7: 14,397,957 (GRCm39) probably benign Het
Pam T A 1: 97,762,169 (GRCm39) T805S probably benign Het
Pgam2 G A 11: 5,753,442 (GRCm39) R83C probably damaging Het
Prtg T A 9: 72,716,926 (GRCm39) I89N probably damaging Het
Rpusd4 T A 9: 35,179,738 (GRCm39) V77E probably benign Het
Sirpb1a T C 3: 15,481,977 (GRCm39) Y50C probably damaging Het
Whamm T C 7: 81,228,014 (GRCm39) V87A probably damaging Het
Other mutations in Chac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02611:Chac1 APN 2 119,183,934 (GRCm39) missense probably damaging 1.00
PIT4366001:Chac1 UTSW 2 119,181,986 (GRCm39) missense probably damaging 1.00
R0218:Chac1 UTSW 2 119,183,941 (GRCm39) nonsense probably null
R0862:Chac1 UTSW 2 119,183,950 (GRCm39) missense probably damaging 0.96
R0864:Chac1 UTSW 2 119,183,950 (GRCm39) missense probably damaging 0.96
R1734:Chac1 UTSW 2 119,183,939 (GRCm39) missense probably damaging 1.00
R5398:Chac1 UTSW 2 119,183,725 (GRCm39) missense possibly damaging 0.92
R5609:Chac1 UTSW 2 119,181,887 (GRCm39) missense unknown
R5641:Chac1 UTSW 2 119,181,999 (GRCm39) missense probably damaging 1.00
R6416:Chac1 UTSW 2 119,184,015 (GRCm39) missense probably damaging 0.98
R7877:Chac1 UTSW 2 119,183,987 (GRCm39) missense probably damaging 1.00
R8954:Chac1 UTSW 2 119,183,836 (GRCm39) missense probably damaging 1.00
R9360:Chac1 UTSW 2 119,182,854 (GRCm39) missense probably damaging 1.00
R9426:Chac1 UTSW 2 119,183,914 (GRCm39) missense possibly damaging 0.80
Posted On 2012-12-06