Incidental Mutation 'R0864:Chac1'
ID 82242
Institutional Source Beutler Lab
Gene Symbol Chac1
Ensembl Gene ENSMUSG00000027313
Gene Name ChaC, cation transport regulator 1
Synonyms 1810008K03Rik, Botch
MMRRC Submission 039038-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0864 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119181723-119184807 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 119183950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 184 (A184E)
Ref Sequence ENSEMBL: ENSMUSP00000028780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028780]
AlphaFold Q8R3J5
Predicted Effect probably damaging
Transcript: ENSMUST00000028780
AA Change: A184E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: A184E

DomainStartEndE-ValueType
low complexity region 5 25 N/A INTRINSIC
Pfam:ChaC 34 209 2.2e-71 PFAM
Meta Mutation Damage Score 0.3057 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 97.3%
  • 20x: 93.8%
Validation Efficiency 93% (39/42)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,784,798 (GRCm39) probably benign Het
Alx4 A G 2: 93,473,200 (GRCm39) Y66C probably damaging Het
Apol7e T A 15: 77,601,993 (GRCm39) V197E probably damaging Het
Clmn G A 12: 104,756,274 (GRCm39) T192I possibly damaging Het
Csmd1 T A 8: 16,240,040 (GRCm39) Y1124F probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
D430041D05Rik G A 2: 104,060,773 (GRCm39) P1374S possibly damaging Het
Dyrk4 T C 6: 126,854,296 (GRCm39) E499G possibly damaging Het
Fat1 T A 8: 45,471,074 (GRCm39) I1603N probably damaging Het
Fbn1 A T 2: 125,184,811 (GRCm39) C1660* probably null Het
Gapt G C 13: 110,490,273 (GRCm39) T130R probably damaging Het
Hpn T C 7: 30,808,426 (GRCm39) I41V probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Map4 A G 9: 109,808,037 (GRCm39) Y34C probably damaging Het
Mapk8 C T 14: 33,114,949 (GRCm39) R189H probably damaging Het
Mprip T C 11: 59,649,587 (GRCm39) V1097A probably benign Het
Msh2 A G 17: 87,987,480 (GRCm39) T207A probably benign Het
Muc4 A G 16: 32,570,820 (GRCm39) S627G probably benign Het
Nbeal2 G A 9: 110,457,263 (GRCm39) T2266I probably damaging Het
Pdcd6ip A T 9: 113,503,578 (GRCm39) probably benign Het
Pdk2 A G 11: 94,918,759 (GRCm39) Y339H probably damaging Het
Piwil2 T C 14: 70,632,823 (GRCm39) D583G probably benign Het
Plin4 T A 17: 56,410,966 (GRCm39) M1022L probably benign Het
Pmpca G A 2: 26,283,221 (GRCm39) probably null Het
Rbbp4 G T 4: 129,214,344 (GRCm39) probably benign Het
Rbbp8 G A 18: 11,865,241 (GRCm39) probably benign Het
Rbms3 A T 9: 117,458,860 (GRCm39) probably benign Het
Snx14 A T 9: 88,266,049 (GRCm39) S726T possibly damaging Het
Supt4a T A 11: 87,633,913 (GRCm39) S88T probably benign Het
Tmem245 G T 4: 56,890,837 (GRCm39) H321Q probably damaging Het
Trim43c A T 9: 88,725,087 (GRCm39) H202L probably benign Het
Trip12 A G 1: 84,721,730 (GRCm39) F1334S probably damaging Het
Vmn1r36 T C 6: 66,693,840 (GRCm39) T12A probably null Het
Ywhae T G 11: 75,650,256 (GRCm39) probably null Het
Zc3h4 T A 7: 16,154,104 (GRCm39) S131T probably damaging Het
Zfp280b C T 10: 75,874,139 (GRCm39) T6M probably benign Het
Other mutations in Chac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Chac1 APN 2 119,184,040 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACGAGGCCCTGAAGTACCTGAATG -3'
(R):5'- GCATACTGATGTCCACCAGTACCAC -3'

Sequencing Primer
(F):5'- CCCTGAAGTACCTGAATGTGAGG -3'
(R):5'- AGTACCACTCAGACACTTCTTG -3'
Posted On 2013-11-08