Incidental Mutation 'R0004:Chia1'
ID 19163
Institutional Source Beutler Lab
Gene Symbol Chia1
Ensembl Gene ENSMUSG00000062778
Gene Name chitinase, acidic 1
Synonyms AMCase, 2200003E03Rik, Chia, YNL
MMRRC Submission 038300-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.419) question?
Stock # R0004 (G1)
Quality Score
Status Validated
Chromosome 3
Chromosomal Location 106020698-106039434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106036325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 302 (A302S)
Ref Sequence ENSEMBL: ENSMUSP00000078134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079132] [ENSMUST00000139086]
AlphaFold Q91XA9
Predicted Effect probably damaging
Transcript: ENSMUST00000079132
AA Change: A302S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778
AA Change: A302S

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 0.3092 question?
Coding Region Coverage
  • 1x: 72.9%
  • 3x: 51.7%
  • 10x: 14.4%
  • 20x: 3.8%
Validation Efficiency 93% (26/28)
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T C 1: 38,308,807 (GRCm39) D376G possibly damaging Het
Akap12 A T 10: 4,303,218 (GRCm39) E9D possibly damaging Het
Cnp T C 11: 100,467,633 (GRCm39) F192S probably damaging Het
Garre1 A T 7: 33,955,853 (GRCm39) F412Y probably damaging Het
Hbegf A G 18: 36,640,559 (GRCm39) V166A probably damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Pcdhb10 T A 18: 37,545,012 (GRCm39) D29E probably benign Het
Washc5 A G 15: 59,239,316 (GRCm39) M149T 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
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
R1401:Chia1 UTSW 3 106,036,255 (GRCm39) missense probably benign 0.00
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
Posted On 2013-03-25