Mutagenetix > Incidental Mutation

Incidental Mutation 'R9307:Chia1'

731347

Institutional Source

Beutler Lab

Gene Symbol

Chia1

Ensembl Gene

ENSMUSG00000062778

Gene Name

chitinase, acidic 1

Synonyms

AMCase, 2200003E03Rik, Chia, YNL

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

R9307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106020698-106039434 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 106035991 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 benign
Transcript: ENSMUST00000079132

SMART Domains

Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Glyco_18	3	215	2.24e-47	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,183 (GRCm39)	D124A	probably benign	Het
Acd	T	C	8: 106,425,514 (GRCm39)	D273G	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adam2	A	T	14: 66,287,921 (GRCm39)	C392S	probably damaging	Het
Adam23	T	A	1: 63,576,131 (GRCm39)	N304K	probably damaging	Het
Adam34l	A	C	8: 44,079,304 (GRCm39)	F307V	probably benign	Het
Aldh3b3	T	C	19: 4,013,882 (GRCm39)	F28L	probably damaging	Het
Bsn	A	G	9: 107,992,993 (GRCm39)	S920P	probably benign	Het
Btc	A	G	5: 91,550,515 (GRCm39)		probably null	Het
Chchd2	A	T	5: 129,916,054 (GRCm39)	V12E	probably benign	Het
Chil4	A	T	3: 106,111,382 (GRCm39)		probably null	Het
Clock	A	G	5: 76,364,671 (GRCm39)	F815L	unknown	Het
Cmtr2	C	T	8: 110,949,712 (GRCm39)	T674M	probably benign	Het
Cnbd1	A	C	4: 18,887,647 (GRCm39)	I289R	probably damaging	Het
Cog2	A	T	8: 125,253,837 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,703,248 (GRCm39)	I454V	unknown	Het
Cyct	T	A	2: 76,184,457 (GRCm39)	Y98F	probably benign	Het
Dcaf6	T	C	1: 165,227,236 (GRCm39)	E297G	possibly damaging	Het
Dgka	T	C	10: 128,567,046 (GRCm39)	H271R	probably damaging	Het
Dnah9	T	A	11: 65,976,300 (GRCm39)	I1250F	probably benign	Het
Dock4	T	C	12: 40,686,155 (GRCm39)	L130P	probably damaging	Het
Dpyd	G	A	3: 119,108,560 (GRCm39)	V868I	probably benign	Het
Dync1li1	T	A	9: 114,535,076 (GRCm39)	D113E	probably damaging	Het
Fat3	T	C	9: 15,932,719 (GRCm39)	K1405E	probably damaging	Het
Fbn2	A	G	18: 58,342,856 (GRCm39)	C8R	probably benign	Het
Frmd4a	A	G	2: 4,609,044 (GRCm39)	M971V	probably benign	Het
Glyatl3	C	T	17: 41,223,553 (GRCm39)		probably null	Het
Grip1	A	T	10: 119,821,454 (GRCm39)	H373L	probably benign	Het
Ins1	T	C	19: 52,253,258 (GRCm39)	L66P	possibly damaging	Het
Kif21b	A	T	1: 136,101,800 (GRCm39)	I1616L	probably benign	Het
Map7d1	A	G	4: 126,128,024 (GRCm39)	M637T	unknown	Het
Mc2r	A	T	18: 68,540,636 (GRCm39)	M219K	probably benign	Het
Mcpt1	A	G	14: 56,256,867 (GRCm39)	D135G	possibly damaging	Het
Mturn	T	C	6: 54,676,541 (GRCm39)		probably null	Het
Mutyh	T	A	4: 116,674,074 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,984,397 (GRCm39)	D1078G	possibly damaging	Het
Or4d5	T	C	9: 40,012,451 (GRCm39)	I112V	probably benign	Het
Pcdha12	A	G	18: 37,153,874 (GRCm39)	K198E	probably damaging	Het
Pcf11	A	T	7: 92,306,534 (GRCm39)	N1211K	possibly damaging	Het
Piezo1	G	A	8: 123,213,832 (GRCm39)	P1711S		Het
Pkd1	T	A	17: 24,769,451 (GRCm39)	L72Q	possibly damaging	Het
Pramel20	C	A	4: 143,299,314 (GRCm39)	L326I	probably damaging	Het
Prss12	A	G	3: 123,299,049 (GRCm39)	D607G	probably benign	Het
R3hdml	T	C	2: 163,344,372 (GRCm39)	*254R	probably null	Het
Rasal3	TTGGACCTGAGTGGA	TTGGA	17: 32,612,502 (GRCm39)	782	probably null	Het
Relch	A	T	1: 105,615,077 (GRCm39)	Y272F	probably benign	Het
Rev3l	C	T	10: 39,693,149 (GRCm39)	P410S	probably benign	Het
Sec14l2	A	G	11: 4,068,665 (GRCm39)	V5A	probably benign	Het
Slc12a3	A	C	8: 95,061,625 (GRCm39)	I291L	probably benign	Het
Slc4a10	T	C	2: 62,083,662 (GRCm39)	F372L	probably damaging	Het
Spta1	T	C	1: 174,035,978 (GRCm39)	W1095R	probably damaging	Het
Synj1	T	C	16: 90,785,095 (GRCm39)	T254A	probably damaging	Het
Taar2	T	C	10: 23,817,237 (GRCm39)	F259S	probably damaging	Het
Tns2	C	A	15: 102,018,996 (GRCm39)	L396I	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traf5	T	C	1: 191,747,033 (GRCm39)	D96G	probably damaging	Het
Trgv3	A	G	13: 19,427,441 (GRCm39)	E108G	probably damaging	Het
Trpv6	A	G	6: 41,602,378 (GRCm39)	V336A	probably benign	Het
Usp45	A	T	4: 21,824,998 (GRCm39)	L583F	probably damaging	Het
Utrn	T	C	10: 12,554,475 (GRCm39)	D1538G	probably benign	Het
Vmn1r209	T	A	13: 22,990,072 (GRCm39)	H206L	probably damaging	Het
Zfp51	T	A	17: 21,684,733 (GRCm39)	H449Q	probably benign	Het
Zfp653	G	A	9: 21,969,321 (GRCm39)	S315F	possibly damaging	Het

Other mutations in Chia1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCTACACTGGGGAGAATAGTCC -3'
(R):5'- CTCTGGGAATCCAACAATGAGC -3'

Sequencing Primer
(F):5'- CACTGGGGAGAATAGTCCTCTTTAC -3'
(R):5'- TGGGAATCCAACAATGAGCTTCTC -3'

Posted On

2022-11-04