Incidental Mutation 'R0862:Chac1'
ID 82140
Institutional Source Beutler Lab
Gene Symbol Chac1
Ensembl Gene ENSMUSG00000027313
Gene Name ChaC, cation transport regulator 1
Synonyms 1810008K03Rik, Botch
MMRRC Submission 039036-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0862 (G1)
Quality Score 194
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: 99.1%
  • 3x: 98.1%
  • 10x: 94.9%
  • 20x: 87.0%
Validation Efficiency 100% (40/40)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
9230009I02Rik T C 11: 50,982,144 (GRCm39) noncoding transcript Het
Adamts13 G A 2: 26,896,336 (GRCm39) probably null Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Csmd1 T A 8: 16,240,040 (GRCm39) Y1124F probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign 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
Gm19684 A T 17: 36,432,792 (GRCm39) 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
Mgst1 C T 6: 138,124,749 (GRCm39) T21M probably damaging Het
Msh2 A G 17: 87,987,480 (GRCm39) T207A probably benign Het
Mthfd2 A G 6: 83,290,376 (GRCm39) V85A probably damaging 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
Or51b6b T C 7: 103,309,735 (GRCm39) T241A probably damaging Het
Or7g16 T C 9: 18,727,002 (GRCm39) Y196C probably damaging Het
Or8d1 T C 9: 38,766,478 (GRCm39) V40A possibly damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pdcd6ip A T 9: 113,503,578 (GRCm39) probably benign 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
Rbm48 A G 5: 3,640,438 (GRCm39) S314P 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
Trim43c A T 9: 88,725,087 (GRCm39) H202L probably benign Het
Trip12 A G 1: 84,721,730 (GRCm39) F1334S probably damaging Het
Tyk2 T C 9: 21,027,463 (GRCm39) H503R probably benign Het
Ubr2 G A 17: 47,278,009 (GRCm39) Q745* probably null Het
Ush2a T A 1: 188,275,015 (GRCm39) Y1829* probably null Het
Vmn2r65 T A 7: 84,592,853 (GRCm39) E451D 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
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
Predicted Primers PCR Primer
(F):5'- ACGAGGCCCTGAAGTACCTGAATG -3'
(R):5'- TGATGTCCACCAGTACCACTCAGAC -3'

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