Mutagenetix > Incidental Mutation

Incidental Mutation 'R1846:Chia1'

207706

Institutional Source

Beutler Lab

Gene Symbol

Chia1

Ensembl Gene

ENSMUSG00000062778

Gene Name

chitinase, acidic 1

Synonyms

AMCase, 2200003E03Rik, Chia, YNL

MMRRC Submission

039871-MU

Accession Numbers

Essential gene?

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

Stock #

R1846 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

106020698-106039434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106038181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 359 (I359N)

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: I359N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778
AA Change: I359N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143128

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

99% (75/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	A	7: 12,246,809 (GRCm39)	R63Q	probably benign	Het
Adamts20	A	T	15: 94,243,871 (GRCm39)	C619S	probably damaging	Het
Alx1	T	C	10: 102,861,165 (GRCm39)	D121G	possibly damaging	Het
Anks3	A	C	16: 4,771,748 (GRCm39)	M215R	probably benign	Het
Anxa4	T	A	6: 86,718,893 (GRCm39)		probably null	Het
Arhgef25	A	G	10: 127,021,733 (GRCm39)	V222A	probably damaging	Het
Bglap2	A	G	3: 88,285,932 (GRCm39)		probably benign	Het
Cars2	A	G	8: 11,564,674 (GRCm39)	V22A	probably benign	Het
Ccdc198	G	T	14: 49,473,420 (GRCm39)	L102I	probably damaging	Het
Cenpe	T	A	3: 134,945,606 (GRCm39)	I1040N	probably damaging	Het
Cep170	C	T	1: 176,583,335 (GRCm39)	D1015N	probably damaging	Het
Crot	A	T	5: 9,038,248 (GRCm39)	V93E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnmbp	T	C	19: 43,891,186 (GRCm39)	I194V	probably damaging	Het
Dock4	T	A	12: 40,783,267 (GRCm39)	C734S	probably benign	Het
Eif4e3	T	C	6: 99,617,662 (GRCm39)	S70G	probably benign	Het
Entpd3	G	A	9: 120,387,441 (GRCm39)	D213N	probably benign	Het
Ern2	T	G	7: 121,775,759 (GRCm39)	Y445S	probably benign	Het
Fasn	A	G	11: 120,704,133 (GRCm39)	S1429P	probably benign	Het
Fat4	A	G	3: 39,036,532 (GRCm39)	I3395V	probably benign	Het
Fbln2	C	A	6: 91,233,399 (GRCm39)	Q628K	possibly damaging	Het
Fbxo28	T	C	1: 182,153,845 (GRCm39)	N164D	probably benign	Het
Fez1	T	C	9: 36,779,063 (GRCm39)	S247P	probably damaging	Het
Gars1	A	G	6: 55,040,153 (GRCm39)	D360G	probably benign	Het
Gcfc2	A	T	6: 81,933,873 (GRCm39)	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,446,376 (GRCm39)		probably null	Het
Glp1r	A	G	17: 31,148,909 (GRCm39)		probably null	Het
Hspa14	T	C	2: 3,492,697 (GRCm39)	D356G	possibly damaging	Het
Htt	T	A	5: 35,006,288 (GRCm39)	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,704,484 (GRCm39)		probably benign	Het
Krt36	C	A	11: 99,996,374 (GRCm39)	G17C	probably damaging	Het
Lama2	T	C	10: 27,088,092 (GRCm39)	E895G	probably damaging	Het
Lamb2	G	A	9: 108,364,586 (GRCm39)	R1142H	probably benign	Het
Lhcgr	C	T	17: 89,072,575 (GRCm39)		probably null	Het
Lpin2	A	G	17: 71,532,064 (GRCm39)	T140A	probably benign	Het
Metap1	A	G	3: 138,186,443 (GRCm39)		probably benign	Het
Mpeg1	T	C	19: 12,440,486 (GRCm39)	V648A	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369 (GRCm38)	I749N	probably benign	Het
N4bp2	T	C	5: 65,965,862 (GRCm39)	F1304L	probably damaging	Het
Nup85	A	G	11: 115,459,239 (GRCm39)	E114G	probably benign	Het
Or2a5	A	G	6: 42,874,254 (GRCm39)	S290G	probably damaging	Het
Or4c10	A	G	2: 89,761,010 (GRCm39)	T286A	possibly damaging	Het
Or6b2b	A	T	1: 92,418,822 (GRCm39)	Y218*	probably null	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,052,843 (GRCm39)	C145*	probably null	Het
Plpp6	T	C	19: 28,941,680 (GRCm39)	S94P	probably benign	Het
Polr1a	T	C	6: 71,953,172 (GRCm39)	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,574,043 (GRCm39)	V860E	probably damaging	Het
Ppp1r17	A	G	6: 55,999,412 (GRCm39)	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,786,831 (GRCm39)	W133R	probably damaging	Het
Ptk7	A	G	17: 46,887,416 (GRCm39)		probably null	Het
Rad23b	C	T	4: 55,383,637 (GRCm39)	Q290*	probably null	Het
Rorb	C	T	19: 18,932,445 (GRCm39)	E369K	probably damaging	Het
Rusc1	T	C	3: 88,999,452 (GRCm39)	D110G	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,812,268 (GRCm39)	P105L	probably damaging	Het
Stt3a	C	T	9: 36,674,681 (GRCm39)	R34H	probably damaging	Het
Sufu	T	A	19: 46,439,386 (GRCm39)	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,540,993 (GRCm39)	R289Q	probably damaging	Het
Tph1	A	T	7: 46,309,863 (GRCm39)	S130T	probably damaging	Het
Ttn	A	G	2: 76,776,030 (GRCm39)	S1671P	probably damaging	Het
Usp4	A	G	9: 108,249,935 (GRCm39)	I441V	probably benign	Het
Vmn1r8	A	G	6: 57,013,413 (GRCm39)	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,578,357 (GRCm39)	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,438,546 (GRCm39)	P97S	probably damaging	Het
Zbtb40	T	C	4: 136,735,150 (GRCm39)	D297G	probably benign	Het
Zfp174	C	A	16: 3,672,599 (GRCm39)	Q383K	probably benign	Het
Zfp318	T	A	17: 46,724,592 (GRCm39)	D2198E	probably benign	Het
Zfp628	C	T	7: 4,923,866 (GRCm39)	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,409,112 (GRCm39)	N1695K	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AAGAAGTGCCCTATGCCTATAAG -3'
(R):5'- GTGAGAATGCCAAGACTGCC -3'

Sequencing Primer
(F):5'- AGCTCCTTGGATTTGCTG -3'
(R):5'- GCCAAGACTGCCTTTAAATTAATAAG -3'

Posted On

2014-06-23