Mutagenetix > Incidental Mutation

Incidental Mutation 'R9681:Chia1'

728536

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 #

R9681 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

106020698-106039434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106037996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 326 (Y326C)

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: Y326C

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

SMART Domains

Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778
AA Change: Y326C

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: 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	A	G	6: 72,324,450 (GRCm39)	D20G	probably damaging	Het
Acbd3	T	A	1: 180,566,082 (GRCm39)	Y258*	probably null	Het
Adamts1	T	A	16: 85,599,498 (GRCm39)	H34L		Het
Ankmy1	G	T	1: 92,813,882 (GRCm39)	N432K	possibly damaging	Het
Ano1	A	G	7: 144,143,893 (GRCm39)	M966T	possibly damaging	Het
Ark2n	A	T	18: 77,722,989 (GRCm39)	V349D	possibly damaging	Het
C2cd3	A	G	7: 100,023,662 (GRCm39)	T83A	probably benign	Het
Cdk1	T	A	10: 69,178,449 (GRCm39)	D137V	possibly damaging	Het
Cfap299	T	A	5: 98,477,214 (GRCm39)	M1K	probably null	Het
Ciz1	A	G	2: 32,260,974 (GRCm39)	D295G	possibly damaging	Het
Clrn1	C	T	3: 58,792,251 (GRCm39)	V71I	probably benign	Het
Cr1l	T	C	1: 194,800,149 (GRCm39)	D175G	probably damaging	Het
Crem	A	T	18: 3,268,067 (GRCm39)	V87E	probably damaging	Het
Cyp2b19	T	A	7: 26,466,328 (GRCm39)	L377Q	probably benign	Het
Ddx42	T	A	11: 106,125,679 (GRCm39)	V243D	probably damaging	Het
Dnah14	T	C	1: 181,562,414 (GRCm39)	V2658A	possibly damaging	Het
Dnah3	T	G	7: 119,677,611 (GRCm39)	M437L	probably benign	Het
Flrt2	T	A	12: 95,745,425 (GRCm39)		probably benign	Het
Gm10142	T	A	10: 77,551,880 (GRCm39)	C80*	probably null	Het
Gpr158	A	G	2: 21,831,315 (GRCm39)	E805G	probably damaging	Het
Grwd1	T	C	7: 45,479,473 (GRCm39)	E134G	probably benign	Het
Hdac11	T	A	6: 91,150,068 (GRCm39)	V289D	probably benign	Het
Hsdl1	T	C	8: 120,293,081 (GRCm39)	E118G	possibly damaging	Het
Igdcc4	T	A	9: 65,041,858 (GRCm39)	L1095Q	possibly damaging	Het
Ildr1	T	A	16: 36,528,749 (GRCm39)	C65S	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Itsn2	G	T	12: 4,683,499 (GRCm39)	V341F	unknown	Het
Jak1	G	A	4: 101,019,085 (GRCm39)	R723C	probably damaging	Het
Limch1	A	G	5: 67,126,422 (GRCm39)	T8A	probably damaging	Het
Limd1	T	A	9: 123,345,903 (GRCm39)	C561S	possibly damaging	Het
Map3k19	A	G	1: 127,750,097 (GRCm39)	F1085L	possibly damaging	Het
Mcm7	A	T	5: 138,164,220 (GRCm39)	Y600*	probably null	Het
Mecom	A	T	3: 30,033,803 (GRCm39)	D300E	probably benign	Het
Mfap4	T	A	11: 61,376,925 (GRCm39)	Y51*	probably null	Het
Mug1	T	A	6: 121,833,254 (GRCm39)	N286K	probably benign	Het
Myl2	A	T	5: 122,240,783 (GRCm39)	R40*	probably null	Het
Nom1	A	G	5: 29,642,623 (GRCm39)	S375G	probably damaging	Het
Nrcam	C	A	12: 44,598,133 (GRCm39)	P368Q	probably null	Het
Oca2	G	C	7: 55,943,623 (GRCm39)	Q265H	probably null	Het
Or52a20	T	A	7: 103,366,475 (GRCm39)	F225I	probably damaging	Het
Or52n2c	T	C	7: 104,574,075 (GRCm39)	T299A	probably damaging	Het
Or5k8	T	A	16: 58,644,176 (GRCm39)	N299Y	possibly damaging	Het
Or6c88	A	T	10: 129,406,664 (GRCm39)	T47S	probably damaging	Het
Or7a41	G	A	10: 78,871,577 (GRCm39)	D316N	probably benign	Het
Palmd	T	C	3: 116,717,120 (GRCm39)	E459G	probably benign	Het
Pde1a	G	T	2: 79,695,465 (GRCm39)	A494D	probably benign	Het
Pds5a	T	C	5: 65,808,587 (GRCm39)	Y428C	probably damaging	Het
Pgm2	T	C	5: 64,254,391 (GRCm39)	F59L	probably benign	Het
Plekhm1	A	G	11: 103,258,950 (GRCm39)	V980A	possibly damaging	Het
Polb	T	C	8: 23,118,346 (GRCm39)	D318G	possibly damaging	Het
Rasgef1c	T	A	11: 49,861,040 (GRCm39)	M335K	probably damaging	Het
Rasgrp4	T	C	7: 28,849,687 (GRCm39)	S651P	probably benign	Het
Robo3	A	C	9: 37,334,558 (GRCm39)	I624S	possibly damaging	Het
Robo3	T	A	9: 37,339,087 (GRCm39)	H290L	probably benign	Het
Rps6kl1	T	C	12: 85,183,599 (GRCm39)	H482R	probably damaging	Het
Slc26a9	A	T	1: 131,681,691 (GRCm39)	E168V	probably benign	Het
Slc3a2	T	C	19: 8,691,226 (GRCm39)		probably benign	Het
Slc4a4	A	T	5: 89,102,723 (GRCm39)	K54*	probably null	Het
Slitrk6	A	G	14: 110,988,258 (GRCm39)	L483P	probably damaging	Het
Svep1	T	A	4: 58,084,959 (GRCm39)	N1793I	probably damaging	Het
Ttn	T	C	2: 76,612,723 (GRCm39)	I17119V	possibly damaging	Het
Tulp4	T	C	17: 6,274,500 (GRCm39)	L617P	possibly damaging	Het
Uhrf1	A	G	17: 56,625,083 (GRCm39)	N542S	possibly damaging	Het
Vmn1r151	T	A	7: 22,198,368 (GRCm39)	T246S	probably damaging	Het
Vmn1r57	T	A	7: 5,224,069 (GRCm39)	V198E	probably damaging	Het
Vmn2r99	A	T	17: 19,598,889 (GRCm39)	Q191L	probably damaging	Het
Vrk3	C	T	7: 44,403,356 (GRCm39)	T39M	possibly damaging	Het
Zc3h3	C	A	15: 75,681,470 (GRCm39)	R537L	probably damaging	Het
Zfp64	A	T	2: 168,793,680 (GRCm39)	V22E	probably damaging	Het
Zwint	T	C	10: 72,493,112 (GRCm39)	L218P	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
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
R9307:Chia1	UTSW	3	106,035,991 (GRCm39)	intron	probably benign
R9581:Chia1	UTSW	3	106,035,879 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TCTCATCTCCATCAATGCAAAGAG -3'
(R):5'- GCACCTCCAAAATTGTTCTGC -3'

Sequencing Primer
(F):5'- CCATCAATGCAAAGAGAAAATAACTC -3'
(R):5'- GCTTAAGCCACTGAGCCTGTTTAAG -3'

Posted On

2022-10-06