Mutagenetix > Incidental Mutation

Incidental Mutation 'R7265:Chia1'

564852

Institutional Source

Beutler Lab

Gene Symbol

Chia1

Ensembl Gene

ENSMUSG00000062778

Gene Name

chitinase, acidic 1

Synonyms

AMCase, 2200003E03Rik, Chia, YNL

MMRRC Submission

045355-MU

Accession Numbers

Essential gene?

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

Stock #

R7265 (G1)

Quality Score

184.009

Status

Not validated

Chromosome

Chromosomal Location

106020698-106039434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106036239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 273 (L273Q)

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: L273Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778
AA Change: L273Q

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 damaging
Transcript: ENSMUST00000139086
AA Change: L213Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121967
Gene: ENSMUSG00000062778
AA Change: L213Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb3	A	G	11: 30,948,495 (GRCm39)	E57G	probably benign	Het
B3glct	A	G	5: 149,632,785 (GRCm39)	D45G	probably benign	Het
BC034090	C	A	1: 155,101,073 (GRCm39)	C397F	probably damaging	Het
Bicd1	A	G	6: 149,415,374 (GRCm39)	K696E	probably damaging	Het
Btnl4	C	T	17: 34,694,868 (GRCm39)	C15Y	probably benign	Het
Cabin1	T	C	10: 75,557,257 (GRCm39)	N300S		Het
Coq2	A	G	5: 100,808,136 (GRCm39)	S222P	possibly damaging	Het
Dgkb	T	C	12: 38,234,931 (GRCm39)	V432A	possibly damaging	Het
Dpp3	A	G	19: 4,973,797 (GRCm39)	F92S	probably damaging	Het
Elapor2	T	C	5: 9,496,975 (GRCm39)	V813A	possibly damaging	Het
Emcn	T	C	3: 137,122,839 (GRCm39)	S183P	probably damaging	Het
Emcn	T	A	3: 137,124,837 (GRCm39)	W217R	probably damaging	Het
Enpp2	A	C	15: 54,773,429 (GRCm39)		probably null	Het
Epb41	T	C	4: 131,695,145 (GRCm39)	E14G	unknown	Het
Fhip1b	G	T	7: 105,033,432 (GRCm39)	R609S	probably benign	Het
Grk4	A	G	5: 34,873,608 (GRCm39)	R225G	probably damaging	Het
Insl6	A	T	19: 29,298,945 (GRCm39)	W156R	possibly damaging	Het
Ints3	A	T	3: 90,311,290 (GRCm39)		probably null	Het
Jarid2	G	A	13: 45,055,748 (GRCm39)	G318D	probably benign	Het
Kif16b	A	T	2: 142,556,650 (GRCm39)	L596H	probably damaging	Het
Lctl	T	A	9: 64,034,203 (GRCm39)	Y281N	probably damaging	Het
Letm1	A	T	5: 33,935,992 (GRCm39)	C34S	possibly damaging	Het
Lrrc32	T	C	7: 98,148,644 (GRCm39)	S475P	probably damaging	Het
Lrrc37a	T	A	11: 103,389,767 (GRCm39)	D1886V	probably benign	Het
Macf1	A	T	4: 123,301,670 (GRCm39)	I944K	probably benign	Het
Mark4	T	C	7: 19,185,650 (GRCm39)	D28G	probably benign	Het
Mecom	C	A	3: 30,034,282 (GRCm39)	A465S	possibly damaging	Het
Muc16	A	G	9: 18,567,768 (GRCm39)	S1584P	unknown	Het
Mycbp2	A	G	14: 103,434,679 (GRCm39)		probably null	Het
Myo18b	G	A	5: 112,959,938 (GRCm39)	R1372W	probably damaging	Het
Myo1c	T	C	11: 75,560,616 (GRCm39)	I706T	possibly damaging	Het
Myo1g	T	C	11: 6,460,933 (GRCm39)	T704A	possibly damaging	Het
Nwd1	A	G	8: 73,419,556 (GRCm39)	K914E	probably benign	Het
Or5ac20	T	A	16: 59,104,287 (GRCm39)	D191V	probably damaging	Het
Or8b101	A	T	9: 38,020,227 (GRCm39)	I77L	possibly damaging	Het
Or8k23	C	T	2: 86,186,088 (GRCm39)	V213I	probably benign	Het
Otub2	C	T	12: 103,366,480 (GRCm39)	S99L	probably damaging	Het
Pak5	G	A	2: 135,943,105 (GRCm39)	S345L	probably benign	Het
Pcdhb20	A	T	18: 37,638,616 (GRCm39)	I381F	possibly damaging	Het
Pcdhga7	A	G	18: 37,849,969 (GRCm39)	T659A	probably damaging	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Pik3c2a	T	A	7: 115,987,321 (GRCm39)	K533N	probably damaging	Het
Pkd1l1	T	A	11: 8,879,402 (GRCm39)	Q933L		Het
Ppp4r3a	A	T	12: 101,019,770 (GRCm39)	M395K	possibly damaging	Het
Pramel11	C	A	4: 143,621,991 (GRCm39)	V455L	probably benign	Het
Ptpn20	A	G	14: 33,336,481 (GRCm39)	T107A	probably benign	Het
Scaf8	T	A	17: 3,227,900 (GRCm39)	D376E	unknown	Het
Scn11a	C	A	9: 119,644,331 (GRCm39)	C143F	probably damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Sec13	A	T	6: 113,712,097 (GRCm39)	Y79*	probably null	Het
Sez6	T	A	11: 77,853,691 (GRCm39)	I287N	probably damaging	Het
Slc52a3	T	A	2: 151,846,336 (GRCm39)	I99K	possibly damaging	Het
Slco4c1	T	G	1: 96,799,518 (GRCm39)	H106P	probably damaging	Het
Tada2b	A	G	5: 36,633,952 (GRCm39)	Y209H	probably damaging	Het
Tas1r2	T	A	4: 139,396,963 (GRCm39)	D796E	probably benign	Het
Tdrd12	A	T	7: 35,187,147 (GRCm39)	M581K		Het
Thnsl1	A	G	2: 21,217,269 (GRCm39)	E341G	probably damaging	Het
Tlk2	C	T	11: 105,075,070 (GRCm39)	R11*	probably null	Het
Tmco6	T	C	18: 36,872,396 (GRCm39)		probably null	Het
Trmt44	A	T	5: 35,721,647 (GRCm39)	H505Q	probably benign	Het
Trpc1	T	C	9: 95,590,328 (GRCm39)	M710V	probably benign	Het
Ttc21b	T	C	2: 66,040,517 (GRCm39)	E858G	possibly damaging	Het
Twsg1	C	T	17: 66,236,782 (GRCm39)	D83N	possibly damaging	Het
Umod	G	T	7: 119,065,296 (GRCm39)	Q578K	probably benign	Het
Vmn2r6	T	C	3: 64,464,195 (GRCm39)	N213S	probably benign	Het
Vmn2r88	G	A	14: 51,655,776 (GRCm39)	V662I		Het
Zfp414	C	A	17: 33,850,253 (GRCm39)	D217E	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
R7221:Chia1	UTSW	3	106,039,236 (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'- GCCATGTCTATAATTTCACCCCAAA -3'
(R):5'- AGGTAGAATGGAGATATACACATACAT -3'

Sequencing Primer
(F):5'- AGGTCCTGTGTCTAACCT -3'
(R):5'- CATACATATACGTGTGTGTGTGTG -3'

Posted On

2019-06-26