Incidental Mutation 'R3969:Chia1'
ID 310867
Institutional Source Beutler Lab
Gene Symbol Chia1
Ensembl Gene ENSMUSG00000062778
Gene Name chitinase, acidic 1
Synonyms AMCase, 2200003E03Rik, Chia, YNL
MMRRC Submission 040937-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.419) question?
Stock # R3969 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 106020698-106039434 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 106028951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079132] [ENSMUST00000139086]
AlphaFold Q91XA9
Predicted Effect probably null
Transcript: ENSMUST00000079132
SMART Domains Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778

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 null
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,835,846 (GRCm39) K60E probably damaging Het
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Armcx6 G T X: 133,650,505 (GRCm39) H109N possibly damaging Het
Camk2d G T 3: 126,590,608 (GRCm39) C273F possibly damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cpeb4 T C 11: 31,822,811 (GRCm39) I175T possibly damaging Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Faap100 A T 11: 120,269,531 (GRCm39) M1K probably null Het
Flna A T X: 73,279,273 (GRCm39) V1253E probably damaging Het
Fryl A T 5: 73,269,766 (GRCm39) S396R probably damaging Het
Gm12185 A T 11: 48,798,172 (GRCm39) C774S probably benign Het
Habp2 A G 19: 56,300,133 (GRCm39) Y194C probably damaging Het
Insyn2b A T 11: 34,369,739 (GRCm39) Q481L probably damaging Het
Irf5 A T 6: 29,536,781 (GRCm39) Q497H probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Lins1 C T 7: 66,357,946 (GRCm39) T27I probably benign Het
Ncstn A C 1: 171,897,576 (GRCm39) V439G probably damaging Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Nol8 A T 13: 49,813,492 (GRCm39) K162* probably null Het
Or7g21 A G 9: 19,032,956 (GRCm39) E232G probably benign Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pabpc5 A G X: 118,838,321 (GRCm39) E212G probably benign Het
Pecr G A 1: 72,315,468 (GRCm39) T94I probably damaging Het
Piezo2 A T 18: 63,144,767 (GRCm39) V2776E probably damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Pole3 G T 4: 62,443,198 (GRCm39) N12K possibly damaging Het
Prl2a1 A G 13: 27,990,263 (GRCm39) S71G probably benign Het
Rab39 G A 9: 53,597,932 (GRCm39) A111V possibly damaging Het
Rb1cc1 T A 1: 6,318,494 (GRCm39) probably benign Het
Shroom3 T C 5: 93,088,738 (GRCm39) V496A probably benign Het
Slc26a1 A G 5: 108,821,818 (GRCm39) S24P probably benign Het
Tspoap1 A T 11: 87,653,272 (GRCm39) N113Y probably damaging Het
Usp17lc A T 7: 103,067,626 (GRCm39) H307L probably damaging Het
Vmn2r79 T C 7: 86,652,801 (GRCm39) W498R probably damaging Het
Vmn2r94 C A 17: 18,478,647 (GRCm39) Q33H possibly damaging Het
Wwc2 T C 8: 48,309,358 (GRCm39) D808G unknown Het
Ybx2 G A 11: 69,831,242 (GRCm39) R84Q probably damaging Het
Zfp462 C T 4: 55,012,402 (GRCm39) S308F 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
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
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'- GAAAGGACATTGCACCAATTATGC -3'
(R):5'- GGTGTCCCAAACATCCATCC -3'

Sequencing Primer
(F):5'- ATGCTTATCCCTGATGTTATTTATGG -3'
(R):5'- GTCCCAAACATCCATCCAAAATTATC -3'
Posted On 2015-04-29