Incidental Mutation 'R6668:Chia1'
ID 527056
Institutional Source Beutler Lab
Gene Symbol Chia1
Ensembl Gene ENSMUSG00000062778
Gene Name chitinase, acidic 1
Synonyms AMCase, 2200003E03Rik, Chia, YNL
MMRRC Submission 044788-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.419) question?
Stock # R6668 (G1)
Quality Score 197.009
Status Validated
Chromosome 3
Chromosomal Location 106020698-106039434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106038264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 387 (L387F)
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: L387F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778
AA Change: L387F

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat G T 11: 116,486,868 (GRCm39) probably benign Het
Adam26b A T 8: 43,973,727 (GRCm39) V425D possibly damaging Het
Ahctf1 A G 1: 179,579,972 (GRCm39) S2077P probably benign Het
Amacr A G 15: 10,983,468 (GRCm39) T93A probably benign Het
Arsb T A 13: 93,930,728 (GRCm39) probably null Het
Bcas3 G A 11: 85,692,677 (GRCm39) R354Q probably damaging Het
Cyp24a1 A T 2: 170,327,805 (GRCm39) probably null Het
Dennd4a G A 9: 64,794,247 (GRCm39) G689S probably damaging Het
Elovl4 G A 9: 83,688,039 (GRCm39) A18V probably benign Het
Fam135a A T 1: 24,067,929 (GRCm39) V80E probably damaging Het
Fmo2 T A 1: 162,704,617 (GRCm39) T430S probably benign Het
Fpgs T C 2: 32,577,618 (GRCm39) I213V probably benign Het
Gm10134 A T 2: 28,396,263 (GRCm39) R53* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Ift172 T C 5: 31,412,683 (GRCm39) N1524S probably benign Het
Kif1b G A 4: 149,297,864 (GRCm39) S1104F probably benign Het
Map3k21 T C 8: 126,652,852 (GRCm39) V326A possibly damaging Het
Mlst8 A G 17: 24,696,453 (GRCm39) probably null Het
Muc16 A T 9: 18,551,681 (GRCm39) S4871T probably benign Het
Myo1d A G 11: 80,474,701 (GRCm39) probably benign Het
Ndufa3 A G 7: 3,622,465 (GRCm39) Y41C probably damaging Het
Nfkbid T A 7: 30,123,866 (GRCm39) L142Q probably benign Het
Or8b38 T A 9: 37,973,066 (GRCm39) M150K possibly damaging Het
Peg10 T A 6: 4,754,502 (GRCm39) D94E probably benign Het
Phactr3 A T 2: 177,974,657 (GRCm39) I492F probably damaging Het
Plxna2 T C 1: 194,492,396 (GRCm39) V1751A possibly damaging Het
Prss16 T C 13: 22,190,918 (GRCm39) E238G probably null Het
Rad51ap2 T C 12: 11,507,647 (GRCm39) V523A probably benign Het
Rbm33 T A 5: 28,547,498 (GRCm39) S223T probably benign Het
Ryk T A 9: 102,746,475 (GRCm39) F137I possibly damaging Het
Sars2 G A 7: 28,446,429 (GRCm39) E194K probably benign Het
Spata2l T C 8: 123,960,167 (GRCm39) D374G probably damaging Het
Tenm2 A G 11: 35,937,592 (GRCm39) probably null Het
Ubr4 A G 4: 139,192,652 (GRCm39) K1097E probably damaging Het
Ulk4 A T 9: 121,017,408 (GRCm39) V690E probably damaging Het
Usp34 A G 11: 23,410,659 (GRCm39) N2703S probably damaging Het
Zfp273 C G 13: 67,973,243 (GRCm39) L124V probably damaging Het
Zfp608 A G 18: 55,031,091 (GRCm39) S950P probably damaging Het
Zfp994 A T 17: 22,420,081 (GRCm39) H289Q 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
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
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'- AAGGCCAGCTCCTTGGATTTG -3'
(R):5'- ACCTGGACAAGTGCAACAG -3'

Sequencing Primer
(F):5'- TGGATTTGCTGCCATAACAGACC -3'
(R):5'- CTGGACAAGTGCAACAGACTGAAATG -3'
Posted On 2018-07-23