Incidental Mutation 'R5609:Chac1'
ID 437954
Institutional Source Beutler Lab
Gene Symbol Chac1
Ensembl Gene ENSMUSG00000027313
Gene Name ChaC, cation transport regulator 1
Synonyms 1810008K03Rik, Botch
MMRRC Submission 043158-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5609 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 119181723-119184807 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119181887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 2 (K2E)
Ref Sequence ENSEMBL: ENSMUSP00000028780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028780]
AlphaFold Q8R3J5
Predicted Effect unknown
Transcript: ENSMUST00000028780
AA Change: K2E
SMART Domains Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: K2E

DomainStartEndE-ValueType
low complexity region 5 25 N/A INTRINSIC
Pfam:ChaC 34 209 2.2e-71 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,353,874 (GRCm39) I3732T probably benign Het
Ago1 C A 4: 126,354,830 (GRCm39) K127N possibly damaging Het
Akap8l T C 17: 32,557,374 (GRCm39) N79S probably damaging Het
Ano5 T C 7: 51,243,385 (GRCm39) L836P probably damaging Het
AY358078 A G 14: 52,042,065 (GRCm39) T147A unknown Het
Cabp4 T C 19: 4,189,251 (GRCm39) D102G probably benign Het
Cdc34 C T 10: 79,520,655 (GRCm39) R61C probably damaging Het
Cltc C T 11: 86,621,093 (GRCm39) V305I probably damaging Het
Cog7 T C 7: 121,524,683 (GRCm39) T704A probably benign Het
Cux1 A G 5: 136,421,174 (GRCm39) V184A probably damaging Het
Daglb A T 5: 143,464,274 (GRCm39) T262S probably benign Het
Dglucy A G 12: 100,753,905 (GRCm39) I12V probably null Het
Dnah7a A G 1: 53,621,753 (GRCm39) V1124A probably benign Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Eif3k C A 7: 28,681,133 (GRCm39) A9S probably benign Het
Elapor1 T A 3: 108,378,731 (GRCm39) I408F probably damaging Het
Gli3 A T 13: 15,723,038 (GRCm39) M60L possibly damaging Het
Hk1 C T 10: 62,178,330 (GRCm39) E4K probably benign Het
Kmt2b C A 7: 30,276,570 (GRCm39) V1701L probably damaging Het
Lrp1b T C 2: 41,231,807 (GRCm39) H1107R probably damaging Het
Lypd10 A T 7: 24,413,711 (GRCm39) R242S possibly damaging Het
Ncor1 A G 11: 62,249,679 (GRCm39) probably null Het
Or5h23 T A 16: 58,906,439 (GRCm39) M136L possibly damaging Het
Or6c70 T G 10: 129,710,607 (GRCm39) R6S probably benign Het
Plekhg4 G A 8: 106,106,134 (GRCm39) probably null Het
Pmfbp1 G T 8: 110,251,739 (GRCm39) E327D probably damaging Het
Slc22a17 G A 14: 55,146,427 (GRCm39) P63L probably damaging Het
Slc37a1 G A 17: 31,556,982 (GRCm39) V383M possibly damaging Het
Slc9a9 T A 9: 94,691,990 (GRCm39) Y182N probably damaging Het
Slx4ip A G 2: 136,842,162 (GRCm39) D29G probably damaging Het
St3gal5 T C 6: 72,130,446 (GRCm39) V319A possibly damaging Het
Tbc1d10c C T 19: 4,239,881 (GRCm39) M76I possibly damaging Het
Thrb C A 14: 18,033,526 (GRCm38) H416N probably benign Het
Timp2 T A 11: 118,210,987 (GRCm39) D60V probably damaging Het
Ubxn6 C T 17: 56,376,745 (GRCm39) E216K probably benign Het
Unc79 T C 12: 103,094,527 (GRCm39) M1977T probably benign Het
Uri1 G A 7: 37,662,954 (GRCm39) R347* probably null Het
Vmn1r73 G A 7: 11,490,591 (GRCm39) W136* probably null Het
Vmn2r124 T C 17: 18,294,102 (GRCm39) Y730H probably benign Het
Wnk4 C T 11: 101,166,462 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,468,679 (GRCm39) N2971D probably damaging 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
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
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'- ATTGGCCAGAAAGAGATTTGCCC -3'
(R):5'- GCTATAGCCACGAACGAAGC -3'

Sequencing Primer
(F):5'- CCCAATCATAGGGACAGCTGG -3'
(R):5'- CCCACACGGCTGTCACTATAGG -3'
Posted On 2016-10-26