Incidental Mutation 'IGL02611:Chac1'
ID300465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chac1
Ensembl Gene ENSMUSG00000027313
Gene NameChaC, cation transport regulator 1
SynonymsBotch, 1810008K03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02611
Quality Score
Status
Chromosome2
Chromosomal Location119351229-119354381 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119353453 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 179 (Y179N)
Ref Sequence ENSEMBL: ENSMUSP00000028780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028780]
Predicted Effect probably damaging
Transcript: ENSMUST00000028780
AA Change: Y179N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: Y179N

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cyp2c37 T G 19: 39,993,865 F103L probably benign Het
Dmp1 A T 5: 104,212,514 D352V probably damaging Het
Dpp8 T C 9: 65,055,793 I443T probably benign Het
Furin G A 7: 80,391,778 A544V probably benign Het
Galntl6 A G 8: 57,958,416 M260T probably damaging Het
Gm17654 G A 14: 43,579,005 T47I possibly damaging Het
Hadha A G 5: 30,128,943 probably benign Het
Itfg2 T A 6: 128,424,725 N30I probably damaging Het
Kntc1 T A 5: 123,812,065 L1977H probably damaging Het
Lats1 T C 10: 7,705,787 F779L possibly damaging Het
Ltbp4 T C 7: 27,310,655 Y1160C probably damaging Het
Mcm7 C A 5: 138,167,439 S401I probably damaging Het
Olfr659 A T 7: 104,671,407 D235V possibly damaging Het
Olfr694 G T 7: 106,688,789 T314K probably benign Het
Pcdh8 C T 14: 79,767,667 V876I probably benign Het
Pfpl T C 19: 12,430,283 S633P probably benign Het
Psg29 G A 7: 17,208,791 R239Q probably benign Het
St18 T A 1: 6,768,890 probably benign Het
Syt2 G A 1: 134,741,882 C87Y possibly damaging Het
Unc79 A G 12: 103,165,708 T2300A probably damaging Het
Other mutations in Chac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Chac1 APN 2 119353559 missense probably benign
PIT4366001:Chac1 UTSW 2 119351505 missense probably damaging 1.00
R0218:Chac1 UTSW 2 119353460 nonsense probably null
R0862:Chac1 UTSW 2 119353469 missense probably damaging 0.96
R0864:Chac1 UTSW 2 119353469 missense probably damaging 0.96
R1734:Chac1 UTSW 2 119353458 missense probably damaging 1.00
R5398:Chac1 UTSW 2 119353244 missense possibly damaging 0.92
R5609:Chac1 UTSW 2 119351406 missense unknown
R5641:Chac1 UTSW 2 119351518 missense probably damaging 1.00
R6416:Chac1 UTSW 2 119353534 missense probably damaging 0.98
R7877:Chac1 UTSW 2 119353506 missense probably damaging 1.00
R8954:Chac1 UTSW 2 119353355 missense probably damaging 1.00
Posted On2015-04-16