Incidental Mutation 'PIT4366001:Chac1'
ID 554742
Institutional Source Beutler Lab
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 # PIT4366001 (G1)
Quality Score 168.009
Status Not validated
Chromosome 2
Chromosomal Location 119181723-119184807 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119181986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 35 (W35R)
Ref Sequence ENSEMBL: ENSMUSP00000028780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028780]
AlphaFold Q8R3J5
Predicted Effect probably damaging
Transcript: ENSMUST00000028780
AA Change: W35R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: W35R

DomainStartEndE-ValueType
low complexity region 5 25 N/A INTRINSIC
Pfam:ChaC 34 209 2.2e-71 PFAM
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.5%
  • 20x: 73.8%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C A 11: 119,901,786 (GRCm39) S870I possibly damaging Het
Abca13 T C 11: 9,244,962 (GRCm39) V2275A probably benign Het
Abcb5 T C 12: 118,899,833 (GRCm39) K278R probably damaging Het
Adcy2 TA TAA 13: 68,858,109 (GRCm39) probably benign Het
Add3 C T 19: 53,205,298 (GRCm39) P16L unknown Het
Akap9 T A 5: 4,096,221 (GRCm39) D2365E probably benign Het
Asah1 A G 8: 41,796,783 (GRCm39) S300P possibly damaging Het
Astn1 A T 1: 158,424,779 (GRCm39) H655L probably benign Het
Astn1 A T 1: 158,424,781 (GRCm39) I656F probably benign Het
Bmpr1b T A 3: 141,586,224 (GRCm39) T13S probably benign Het
Camsap2 A G 1: 136,208,055 (GRCm39) F478L Het
Card10 G A 15: 78,671,631 (GRCm39) S611L probably benign Het
Cep68 T C 11: 20,190,007 (GRCm39) N335S probably benign Het
Cntn6 T C 6: 104,809,498 (GRCm39) V511A probably benign Het
Cpne9 G T 6: 113,271,707 (GRCm39) G356W probably damaging Het
Dnah10 C A 5: 124,852,588 (GRCm39) T1939K possibly damaging Het
Dock10 T C 1: 80,573,438 (GRCm39) N239D probably benign Het
Dock5 T C 14: 68,062,123 (GRCm39) K415R possibly damaging Het
Dtd2 C A 12: 52,046,582 (GRCm39) D86Y probably damaging Het
Efcab9 A G 11: 32,473,608 (GRCm39) F127S probably damaging Het
Ermp1 T C 19: 29,606,189 (GRCm39) H375R probably benign Het
Frem2 A T 3: 53,560,622 (GRCm39) M1295K probably damaging Het
Gbp7 T G 3: 142,248,712 (GRCm39) I325R probably benign Het
Gpr179 T C 11: 97,227,677 (GRCm39) K1493E probably benign Het
Gucy2g T A 19: 55,226,214 (GRCm39) E234V probably null Het
Itpr1 T A 6: 108,470,718 (GRCm39) C2215* probably null Het
Ltn1 G A 16: 87,177,728 (GRCm39) R1634* probably null Het
Lynx1 A T 15: 74,623,258 (GRCm39) M58K possibly damaging Het
Macc1 T C 12: 119,410,684 (GRCm39) V484A probably benign Het
Map3k9 C T 12: 81,819,535 (GRCm39) V240M possibly damaging Het
Mars1 A G 10: 127,135,267 (GRCm39) M608T possibly damaging Het
Mc2r T C 18: 68,540,826 (GRCm39) M156V probably benign Het
Mchr1 G T 15: 81,121,417 (GRCm39) V56L probably benign Het
Mlxip C T 5: 123,533,173 (GRCm39) P61S probably benign Het
Mtarc1 A G 1: 184,539,383 (GRCm39) F96S probably benign Het
Muc4 A G 16: 32,575,542 (GRCm39) T1557A unknown Het
Myt1 T C 2: 181,467,731 (GRCm39) V1135A probably damaging Het
Ndufaf6 A T 4: 11,073,215 (GRCm39) S76T probably benign Het
Ntrk2 A G 13: 59,208,149 (GRCm39) Y665C probably damaging Het
Oaz3 T G 3: 94,340,901 (GRCm39) R215S unknown Het
Or10x1 T C 1: 174,196,656 (GRCm39) Y58H probably damaging Het
Or5m10b T C 2: 85,699,226 (GRCm39) C97R probably damaging Het
Or5m8 A T 2: 85,822,385 (GRCm39) N75Y probably damaging Het
Or5w1b C T 2: 87,475,534 (GRCm39) W311* probably null Het
Perm1 G T 4: 156,303,192 (GRCm39) V579L probably benign Het
Phyhipl A G 10: 70,404,788 (GRCm39) V140A probably benign Het
Pip5k1c T A 10: 81,144,842 (GRCm39) S228T probably damaging Het
Plekhn1 T G 4: 156,309,268 (GRCm39) T213P probably damaging Het
Pomt2 A T 12: 87,163,303 (GRCm39) probably null Het
Ptcd1 A G 5: 145,088,145 (GRCm39) V622A probably benign Het
Ptn T A 6: 36,718,284 (GRCm39) H127L probably benign Het
Ptprk A T 10: 28,462,015 (GRCm39) M1193L probably benign Het
Ptpru G A 4: 131,527,023 (GRCm39) P650S probably benign Het
Pum2 T A 12: 8,783,390 (GRCm39) L613Q probably damaging Het
Rapgef6 A G 11: 54,582,446 (GRCm39) T1458A probably damaging Het
Sap130 C T 18: 31,810,462 (GRCm39) A470V probably benign Het
Sertad2 C A 11: 20,598,116 (GRCm39) P104Q probably benign Het
Sfrp4 A T 13: 19,814,414 (GRCm39) M324L unknown Het
Sh3bp4 A G 1: 89,073,156 (GRCm39) N668S probably benign Het
Snx30 C A 4: 59,894,653 (GRCm39) D410E probably benign Het
Spata31 C A 13: 65,069,319 (GRCm39) S489* probably null Het
Taok3 T A 5: 117,366,050 (GRCm39) M367K probably benign Het
Tfap2a T C 13: 40,874,850 (GRCm39) N254D possibly damaging Het
Tgtp1 T G 11: 48,877,867 (GRCm39) L279F possibly damaging Het
Tmpo A G 10: 90,999,172 (GRCm39) F205S probably damaging Het
Tmprss5 A T 9: 49,023,517 (GRCm39) I218L probably benign Het
Tti2 A G 8: 31,641,224 (GRCm39) E116G probably benign Het
Vmn2r59 A T 7: 41,695,205 (GRCm39) N402K possibly 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
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
Predicted Primers PCR Primer
(F):5'- GGTTTAAAGAGCGCCTCTGGAG -3'
(R):5'- TCTCTTAGTTAGCCCAGGGTC -3'

Sequencing Primer
(F):5'- TCAGCTGGAACGACCGATC -3'
(R):5'- TGCCACTCCAGGATACGAG -3'
Posted On 2019-06-07