Mutagenetix > Incidental Mutation

Incidental Mutation 'R7221:Chia1'

561800

Institutional Source

Beutler Lab

Gene Symbol

Chia1

Ensembl Gene

ENSMUSG00000062778

Gene Name

chitinase, acidic 1

Synonyms

AMCase, 2200003E03Rik, Chia, YNL

MMRRC Submission

045293-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R7221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106020698-106039434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106039236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 442 (N442I)

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: N442I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778
AA Change: N442I

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,836,354 (GRCm39)		probably benign	Het
Abr	A	C	11: 76,313,987 (GRCm39)	M720R	probably benign	Het
Acad10	G	A	5: 121,768,273 (GRCm39)	T761M	probably damaging	Het
Agxt	G	T	1: 93,065,623 (GRCm39)	G164V	possibly damaging	Het
Ankar	C	T	1: 72,689,390 (GRCm39)	G1247D	probably damaging	Het
Bptf	A	C	11: 106,945,658 (GRCm39)	L2527R	probably damaging	Het
Brinp2	T	C	1: 158,094,117 (GRCm39)	H195R	possibly damaging	Het
Cacna2d4	G	T	6: 119,213,624 (GRCm39)	R14S	probably benign	Het
Cep126	A	T	9: 8,100,988 (GRCm39)	C515*	probably null	Het
Clasp2	A	G	9: 113,681,825 (GRCm39)	D327G	probably damaging	Het
Cnbd2	T	C	2: 156,215,581 (GRCm39)	F519L	probably benign	Het
Cntrl	T	A	2: 35,041,869 (GRCm39)	F1214I	possibly damaging	Het
Cul9	A	T	17: 46,839,491 (GRCm39)	M829K	probably damaging	Het
Cyp4b1	T	C	4: 115,493,175 (GRCm39)	Q223R	possibly damaging	Het
Defb37	A	T	8: 19,040,988 (GRCm39)	M1K	probably null	Het
Dnah7c	A	T	1: 46,494,937 (GRCm39)	Q55L	possibly damaging	Het
Efcab3	A	G	11: 104,791,432 (GRCm39)	N2882S	probably benign	Het
Eif2b4	A	T	5: 31,345,131 (GRCm39)	D463E	possibly damaging	Het
Elapor1	T	G	3: 108,382,317 (GRCm39)	D232A	possibly damaging	Het
Elovl1	C	T	4: 118,288,811 (GRCm39)	H167Y	probably damaging	Het
Emb	T	A	13: 117,404,013 (GRCm39)	L255Q	probably damaging	Het
Eogt	T	C	6: 97,089,685 (GRCm39)	Y465C	probably damaging	Het
Erc2	A	G	14: 27,375,115 (GRCm39)	H111R	probably damaging	Het
Fam234b	T	C	6: 135,205,529 (GRCm39)	F498S	probably damaging	Het
Fgfr3	GAGGCTGGCAGCGTGTACGCAGGC	GAGGC	5: 33,890,092 (GRCm39)		probably null	Het
Flrt3	T	A	2: 140,503,090 (GRCm39)	E179D	probably damaging	Het
Fndc3a	T	C	14: 72,793,597 (GRCm39)	R993G	probably benign	Het
Gm14325	T	C	2: 177,476,403 (GRCm39)	T14A	probably damaging	Het
Gm5464	T	A	14: 67,106,681 (GRCm39)	V106D	unknown	Het
Gpatch11	T	A	17: 79,149,546 (GRCm39)	I182N	possibly damaging	Het
Grm6	A	G	11: 50,753,870 (GRCm39)	R725G	probably damaging	Het
Hap1	A	T	11: 100,239,655 (GRCm39)	M588K	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ints8	A	G	4: 11,225,613 (GRCm39)	M648T	probably benign	Het
Ipo11	A	T	13: 107,029,065 (GRCm39)	L296Q	probably damaging	Het
Kirrel1	G	A	3: 86,993,704 (GRCm39)	Q518*	probably null	Het
Krt18	G	T	15: 101,937,967 (GRCm39)	D155Y	possibly damaging	Het
Lctl	A	T	9: 64,026,217 (GRCm39)	K91*	probably null	Het
Marf1	C	A	16: 13,960,349 (GRCm39)	R565L	probably damaging	Het
Med13	A	T	11: 86,178,921 (GRCm39)	D1458E	probably benign	Het
Mroh8	T	A	2: 157,071,837 (GRCm39)	Y556F	probably benign	Het
Muc16	C	T	9: 18,553,495 (GRCm39)	G4266D	probably benign	Het
Nsrp1	A	T	11: 76,939,249 (GRCm39)	F182I	probably damaging	Het
Obox3	A	T	7: 15,359,983 (GRCm39)	Y229N	probably benign	Het
Or11h7	A	T	14: 50,891,528 (GRCm39)	Y278F	probably damaging	Het
Or2b2	T	C	13: 21,887,272 (GRCm39)	S34P	probably damaging	Het
Or2b4	A	G	17: 38,116,452 (GRCm39)	K139E	probably benign	Het
Or4a74	T	C	2: 89,440,272 (GRCm39)	Y58C	probably damaging	Het
Or4c108	A	G	2: 88,803,497 (GRCm39)	V246A	probably damaging	Het
Or4p22	T	A	2: 88,317,973 (GRCm39)	V299D	probably damaging	Het
Or8d1	A	G	9: 38,766,538 (GRCm39)	Y60C	probably damaging	Het
Pabpc2	T	A	18: 39,906,963 (GRCm39)	V76D	possibly damaging	Het
Parp9	T	C	16: 35,774,071 (GRCm39)	W348R	probably benign	Het
Pdp1	T	C	4: 11,961,004 (GRCm39)	T455A	probably damaging	Het
Phactr2	A	C	10: 13,122,783 (GRCm39)	D446E	possibly damaging	Het
Pi4kb	T	C	3: 94,901,500 (GRCm39)	L389P	probably damaging	Het
Pla2g4f	C	T	2: 120,131,476 (GRCm39)	R749H	probably benign	Het
Plec	A	G	15: 76,059,974 (GRCm39)	V3321A	probably damaging	Het
Plod2	T	C	9: 92,466,580 (GRCm39)	V180A	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Potefam3d	T	G	8: 69,975,316 (GRCm39)	D50A	probably benign	Het
Rubcn	T	C	16: 32,687,293 (GRCm39)		probably null	Het
Sacs	T	C	14: 61,446,255 (GRCm39)	V2767A	probably damaging	Het
Selenbp2	C	G	3: 94,611,133 (GRCm39)	Y414*	probably null	Het
Slc45a4	A	T	15: 73,458,259 (GRCm39)	M430K	probably benign	Het
Smg1	A	G	7: 117,782,020 (GRCm39)	L1145P	possibly damaging	Het
Spns2	A	G	11: 72,347,742 (GRCm39)	V316A	probably benign	Het
Srl	T	A	16: 4,300,811 (GRCm39)	E753D	probably damaging	Het
Thada	T	C	17: 84,771,794 (GRCm39)	T23A	possibly damaging	Het
Tmem231	T	C	8: 112,660,308 (GRCm39)	T31A	probably benign	Het
Tpr	C	T	1: 150,321,929 (GRCm39)	T2321M	possibly damaging	Het
Ttn	T	A	2: 76,772,195 (GRCm39)	N2615I	unknown	Het
Vmn1r41	A	G	6: 89,724,034 (GRCm39)	I192V	probably benign	Het
Vmn2r83	A	T	10: 79,316,001 (GRCm39)	T466S	probably benign	Het
Vnn1	A	G	10: 23,770,952 (GRCm39)	D60G	probably benign	Het
Wiz	G	A	17: 32,578,139 (GRCm39)	P449S	probably benign	Het
Zic1	A	G	9: 91,246,785 (GRCm39)	S96P	probably damaging	Het
Zw10	T	A	9: 48,981,012 (GRCm39)	S471T	probably benign	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
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'- ACTGCCACTGCTTCATCAAG -3'
(R):5'- ACACCGATGTTTTGGCTACC -3'

Sequencing Primer
(F):5'- TTCATCAAGCCCACCCATCG -3'
(R):5'- TGGCTACCAATTTTATTGCATAAGG -3'

Posted On

2019-06-26