Incidental Mutation 'R1401:Chia1'
ID 160100
Institutional Source Beutler Lab
Gene Symbol Chia1
Ensembl Gene ENSMUSG00000062778
Gene Name chitinase, acidic 1
Synonyms AMCase, 2200003E03Rik, Chia, YNL
MMRRC Submission 039463-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.419) question?
Stock # R1401 (G1)
Quality Score 163
Status Validated
Chromosome 3
Chromosomal Location 106020698-106039434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106036255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 278 (D278E)
Ref Sequence ENSEMBL: ENSMUSP00000078134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079132] [ENSMUST00000139086]
AlphaFold Q91XA9
Predicted Effect probably benign
Transcript: ENSMUST00000079132
AA Change: D278E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778
AA Change: D278E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 365 1.82e-161 SMART
ChtBD2 425 473 2.06e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139086
SMART Domains Protein: ENSMUSP00000121967
Gene: ENSMUSG00000062778

DomainStartEndE-ValueType
Glyco_18 3 215 2.24e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143128
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 98% (87/89)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abcg1 T A 17: 31,333,132 (GRCm39) I625N possibly damaging Het
Adam33 C A 2: 130,893,391 (GRCm39) probably benign Het
Adgrl2 A T 3: 148,528,617 (GRCm39) I1185N probably damaging Het
Afp A T 5: 90,649,486 (GRCm39) probably benign Het
Aggf1 A G 13: 95,501,356 (GRCm39) V342A probably benign Het
Ankrd11 A T 8: 123,619,789 (GRCm39) S1333R probably benign Het
Arhgef11 C A 3: 87,640,776 (GRCm39) S1311* probably null Het
Atp6v1g1 T C 4: 63,466,878 (GRCm39) Y47H probably benign Het
Atp8b4 T C 2: 126,165,013 (GRCm39) probably null Het
Barx2 A G 9: 31,770,327 (GRCm39) L67P probably damaging Het
Bbs7 G A 3: 36,627,706 (GRCm39) P694S probably benign Het
Btbd10 A T 7: 112,946,266 (GRCm39) V33E probably benign Het
C2 T C 17: 35,091,457 (GRCm39) T69A possibly damaging Het
C8b T G 4: 104,641,679 (GRCm39) L205R possibly damaging Het
Cct4 T G 11: 22,944,333 (GRCm39) N72K probably damaging Het
Cd300lg C A 11: 101,944,981 (GRCm39) P353H possibly damaging Het
Cdh20 A T 1: 104,875,222 (GRCm39) I335L possibly damaging Het
Cfhr2 T A 1: 139,738,757 (GRCm39) H268L probably benign Het
Cntn6 A G 6: 104,781,359 (GRCm39) T482A possibly damaging Het
Cst13 T A 2: 148,665,016 (GRCm39) F4I probably benign Het
Ctsc T A 7: 87,930,706 (GRCm39) V95E probably damaging Het
Ddhd1 A T 14: 45,842,508 (GRCm39) probably null Het
Dmxl2 A T 9: 54,322,712 (GRCm39) probably null Het
Dnah5 A C 15: 28,402,059 (GRCm39) T3407P probably damaging Het
Dock1 T A 7: 134,735,665 (GRCm39) Y1344* probably null Het
Eif4g3 T C 4: 137,933,395 (GRCm39) V1740A probably damaging Het
Epb41l5 A G 1: 119,506,634 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Gm10033 T C 8: 69,826,022 (GRCm39) noncoding transcript Het
Gm12790 A G 4: 101,825,396 (GRCm39) L6P probably benign Het
Gramd4 A G 15: 86,009,397 (GRCm39) D210G probably damaging Het
Hectd3 T C 4: 116,859,466 (GRCm39) S697P possibly damaging Het
Hsf4 T C 8: 106,002,235 (GRCm39) V399A probably benign Het
Hyal6 T A 6: 24,743,434 (GRCm39) C377S probably damaging Het
Myb C T 10: 21,028,844 (GRCm39) V85M probably damaging Het
Mypn A G 10: 62,988,636 (GRCm39) V463A probably damaging Het
Nav1 T A 1: 135,388,163 (GRCm39) I1144L probably benign Het
Nckap5 A G 1: 125,942,398 (GRCm39) probably benign Het
Nipbl A T 15: 8,401,657 (GRCm39) S30T probably damaging Het
Nmt1 T C 11: 102,948,307 (GRCm39) F277S probably damaging Het
Nploc4 A C 11: 120,274,115 (GRCm39) probably benign Het
Nup54 C A 5: 92,576,080 (GRCm39) R137I probably damaging Het
Or52n2b T C 7: 104,565,963 (GRCm39) Y180C probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pkd1l1 G T 11: 8,804,487 (GRCm39) Y1701* probably null Het
Plekhg6 T C 6: 125,340,072 (GRCm39) T763A probably damaging Het
Pmepa1 C T 2: 173,070,368 (GRCm39) probably null Het
Ppfia2 A G 10: 106,666,518 (GRCm39) E408G possibly damaging Het
Pramel13 G A 4: 144,121,658 (GRCm39) T122M probably benign Het
Prl8a2 G A 13: 27,537,979 (GRCm39) V218I possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Shisal2b A T 13: 105,000,113 (GRCm39) C37S probably damaging Het
Slc13a1 A T 6: 24,118,082 (GRCm39) probably null Het
Slc17a8 T A 10: 89,427,076 (GRCm39) T342S probably damaging Het
Slc30a9 A G 5: 67,510,005 (GRCm39) E519G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc39a5 G A 10: 128,233,610 (GRCm39) L296F probably damaging Het
Slco6b1 A C 1: 96,857,610 (GRCm39) noncoding transcript Het
Slco6d1 G A 1: 98,418,341 (GRCm39) G509D probably damaging Het
Spen A G 4: 141,199,132 (GRCm39) V3142A probably damaging Het
Spta1 T A 1: 174,050,250 (GRCm39) H1763Q probably damaging Het
Srcap T C 7: 127,159,124 (GRCm39) probably benign Het
Stard9 T C 2: 120,543,328 (GRCm39) probably benign Het
Stat4 A G 1: 52,111,106 (GRCm39) probably benign Het
Svbp T A 4: 119,053,225 (GRCm39) probably benign Het
Tm2d1 A T 4: 98,258,833 (GRCm39) probably benign Het
Trpv1 C A 11: 73,130,952 (GRCm39) probably null Het
Trrap A G 5: 144,794,232 (GRCm39) D3713G possibly damaging Het
Ubr1 T A 2: 120,786,125 (GRCm39) D165V probably benign Het
Utrn C A 10: 12,524,897 (GRCm39) M2195I probably benign Het
Vmn1r229 G A 17: 21,034,904 (GRCm39) V50I possibly damaging Het
Vmn1r44 A T 6: 89,870,632 (GRCm39) H126L probably benign Het
Vmn2r116 T C 17: 23,605,570 (GRCm39) probably benign Het
Vmn2r27 A C 6: 124,168,591 (GRCm39) Y846* probably null Het
Vmn2r84 T A 10: 130,227,859 (GRCm39) S126C possibly damaging Het
Xylb T A 9: 119,197,133 (GRCm39) probably benign Het
Zfp282 A T 6: 47,867,108 (GRCm39) K232* probably null Het
Zfp39 C A 11: 58,781,149 (GRCm39) V538L probably benign Het
Zfp560 T C 9: 20,263,149 (GRCm39) N76D possibly damaging Het
Zmym4 C T 4: 126,804,962 (GRCm39) V433I probably benign Het
Zscan5b A G 7: 6,233,425 (GRCm39) E83G probably damaging Het
Other mutations in Chia1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01917:Chia1 APN 3 106,035,536 (GRCm39) missense probably damaging 1.00
Pet UTSW 3 106,036,338 (GRCm39) critical splice donor site probably null
R0004:Chia1 UTSW 3 106,036,325 (GRCm39) missense probably damaging 1.00
R0011:Chia1 UTSW 3 106,038,290 (GRCm39) unclassified probably benign
R0047:Chia1 UTSW 3 106,022,573 (GRCm39) missense probably damaging 0.99
R0345:Chia1 UTSW 3 106,029,755 (GRCm39) missense probably damaging 1.00
R0456:Chia1 UTSW 3 106,035,795 (GRCm39) missense probably damaging 1.00
R0638:Chia1 UTSW 3 106,035,753 (GRCm39) splice site probably benign
R0847:Chia1 UTSW 3 106,039,253 (GRCm39) missense probably benign 0.12
R1055:Chia1 UTSW 3 106,038,199 (GRCm39) missense probably damaging 1.00
R1513:Chia1 UTSW 3 106,039,220 (GRCm39) missense probably benign 0.44
R1846:Chia1 UTSW 3 106,038,181 (GRCm39) missense probably damaging 0.98
R1882:Chia1 UTSW 3 106,035,790 (GRCm39) missense probably damaging 1.00
R1914:Chia1 UTSW 3 106,035,875 (GRCm39) missense probably benign 0.06
R1915:Chia1 UTSW 3 106,035,875 (GRCm39) missense probably benign 0.06
R2107:Chia1 UTSW 3 106,036,156 (GRCm39) nonsense probably null
R3969:Chia1 UTSW 3 106,028,951 (GRCm39) splice site probably null
R3970:Chia1 UTSW 3 106,028,951 (GRCm39) splice site probably null
R4112:Chia1 UTSW 3 106,035,844 (GRCm39) missense probably damaging 1.00
R4432:Chia1 UTSW 3 106,022,641 (GRCm39) missense probably benign 0.03
R4625:Chia1 UTSW 3 106,036,256 (GRCm39) missense probably benign 0.00
R4748:Chia1 UTSW 3 106,029,765 (GRCm39) missense probably damaging 1.00
R5805:Chia1 UTSW 3 106,035,792 (GRCm39) missense probably damaging 0.98
R5906:Chia1 UTSW 3 106,039,304 (GRCm39) missense probably benign 0.01
R6173:Chia1 UTSW 3 106,036,338 (GRCm39) critical splice donor site probably null
R6214:Chia1 UTSW 3 106,029,761 (GRCm39) missense probably damaging 1.00
R6215:Chia1 UTSW 3 106,029,761 (GRCm39) missense probably damaging 1.00
R6225:Chia1 UTSW 3 106,038,213 (GRCm39) missense possibly damaging 0.66
R6383:Chia1 UTSW 3 106,039,127 (GRCm39) missense probably benign
R6423:Chia1 UTSW 3 106,036,304 (GRCm39) missense possibly damaging 0.60
R6668:Chia1 UTSW 3 106,038,264 (GRCm39) missense probably damaging 1.00
R6764:Chia1 UTSW 3 106,038,056 (GRCm39) critical splice donor site probably null
R7030:Chia1 UTSW 3 106,022,641 (GRCm39) missense probably damaging 1.00
R7221:Chia1 UTSW 3 106,039,236 (GRCm39) missense probably damaging 1.00
R7265:Chia1 UTSW 3 106,036,239 (GRCm39) missense probably damaging 1.00
R7343:Chia1 UTSW 3 106,039,331 (GRCm39) makesense probably null
R7420:Chia1 UTSW 3 106,037,980 (GRCm39) missense probably benign 0.00
R8933:Chia1 UTSW 3 106,036,333 (GRCm39) nonsense probably null
R9031:Chia1 UTSW 3 106,035,777 (GRCm39) missense probably benign 0.00
R9289:Chia1 UTSW 3 106,022,502 (GRCm39) start gained probably benign
R9307:Chia1 UTSW 3 106,035,991 (GRCm39) intron probably benign
R9581:Chia1 UTSW 3 106,035,879 (GRCm39) missense possibly damaging 0.50
R9681:Chia1 UTSW 3 106,037,996 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTCAATGTGGTAAGACCCTACAGAA -3'
(R):5'- CAACAGAGGAGAAGTAAGGTAGAATGGAGA -3'

Sequencing Primer
(F):5'- CTACAGAAATGCACACTGGGG -3'
(R):5'- GTGTGCGTGCATAAGTTAGG -3'
Posted On 2014-03-14