Mutagenetix > Incidental Mutation

Incidental Mutation 'R5287:Cat'

424391

Institutional Source

Beutler Lab

Gene Symbol

Cat

Ensembl Gene

ENSMUSG00000027187

Gene Name

catalase

Synonyms

Cas1, Cs-1, Cas-1

MMRRC Submission

042871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103284249-103315498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103304705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 107 (T107A)

Ref Sequence

ENSEMBL: ENSMUSP00000028610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028610] [ENSMUST00000111168]

AlphaFold

P24270

Predicted Effect

probably damaging
Transcript: ENSMUST00000028610
AA Change: T107A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028610
Gene: ENSMUSG00000027187
AA Change: T107A

Domain	Start	End	E-Value	Type
Catalase	28	413	4.7e-285	SMART
Pfam:Catalase-rel	434	497	5.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111168

SMART Domains

Protein: ENSMUSP00000106798
Gene: ENSMUSG00000027187

Domain	Start	End	E-Value	Type
Catalase	28	176	2.33e-3	SMART

Meta Mutation Damage Score

0.9526

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a generally normal phenotype although subtle abnormalities do occur in mitochondrial respiration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	C	2: 93,666,298 (GRCm39)	D463G	probably damaging	Het
Acsbg3	G	T	17: 57,183,221 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,588,001 (GRCm39)	V929I	probably benign	Het
Anp32a	A	T	9: 62,249,275 (GRCm39)	I16F	possibly damaging	Het
Arpin	T	C	7: 79,577,997 (GRCm39)	E144G	probably damaging	Het
Asb18	T	C	1: 89,942,110 (GRCm39)	T64A	probably benign	Het
Asxl2	A	G	12: 3,546,893 (GRCm39)	N559S	probably benign	Het
Brd7	G	T	8: 89,084,169 (GRCm39)	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,711,201 (GRCm39)	W336R	probably benign	Het
Btnl9	A	G	11: 49,060,434 (GRCm39)	V438A	probably benign	Het
Catsperg2	T	C	7: 29,397,263 (GRCm39)	Y1080C	possibly damaging	Het
Ccdc138	T	A	10: 58,411,527 (GRCm39)	F632I	possibly damaging	Het
Cd46	C	T	1: 194,744,719 (GRCm39)	V340I	possibly damaging	Het
Celf1	T	C	2: 90,839,552 (GRCm39)	S326P	possibly damaging	Het
Ces1e	T	G	8: 93,935,240 (GRCm39)	D404A	probably benign	Het
Chd3	A	T	11: 69,239,895 (GRCm39)		probably null	Het
Clhc1	A	G	11: 29,528,244 (GRCm39)		probably benign	Het
Cops8	C	T	1: 90,534,342 (GRCm39)		probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Csmd2	C	T	4: 128,380,677 (GRCm39)	R2078C	probably benign	Het
Dnm1l	A	C	16: 16,151,732 (GRCm39)	V240G	probably damaging	Het
Fezf1	C	T	6: 23,248,010 (GRCm39)	V22M	probably benign	Het
Gm6818	T	G	7: 38,099,911 (GRCm39)		noncoding transcript	Het
Hand2	C	T	8: 57,775,080 (GRCm39)	L47F	probably damaging	Het
Insyn2b	A	T	11: 34,353,058 (GRCm39)	T367S	probably benign	Het
Itga7	C	A	10: 128,779,027 (GRCm39)	R351S	probably benign	Het
Mmp8	G	T	9: 7,567,507 (GRCm39)	A456S	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Opn4	T	C	14: 34,314,894 (GRCm39)	T460A	probably benign	Het
Or6b2	A	T	1: 92,408,019 (GRCm39)	V108E	possibly damaging	Het
Otog	T	C	7: 45,918,753 (GRCm39)	F943S	probably damaging	Het
Pcnx1	A	T	12: 82,028,825 (GRCm39)	Y1668F	probably damaging	Het
Pheta1	A	G	5: 121,990,794 (GRCm39)	E52G	possibly damaging	Het
Phf24	A	T	4: 42,933,831 (GRCm39)		probably null	Het
Phkg2	GCTGCCGGACGAGTGGCCT	GCT	7: 127,181,929 (GRCm39)		probably null	Het
Ppargc1a	G	A	5: 51,620,167 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 75,872,405 (GRCm39)	R1355*	probably null	Het
Ptprn2	A	T	12: 117,175,482 (GRCm39)	M721L	probably damaging	Het
Sec23ip	A	G	7: 128,367,860 (GRCm39)	E624G	probably benign	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Snrnp200	T	C	2: 127,073,607 (GRCm39)	V1335A	probably benign	Het
Sp140	G	A	1: 85,538,545 (GRCm39)		probably null	Het
Spdye4c	T	C	2: 128,434,560 (GRCm39)	S46P	possibly damaging	Het
Syde1	T	C	10: 78,425,871 (GRCm39)	R99G	probably benign	Het
T2	A	T	17: 8,636,835 (GRCm39)	M57L	probably benign	Het
Tasor2	G	A	13: 3,625,744 (GRCm39)	S1402L	probably benign	Het
Tfap2e	T	C	4: 126,628,439 (GRCm39)	I172M	probably benign	Het
Tk1	A	T	11: 117,707,367 (GRCm39)	V140E	probably damaging	Het
Tln2	G	A	9: 67,149,641 (GRCm39)	T1192M	probably damaging	Het
Tmed8	C	A	12: 87,220,957 (GRCm39)	A210S	probably damaging	Het
Tnip2	A	G	5: 34,671,108 (GRCm39)	L45P	probably damaging	Het
Ttc3	T	C	16: 94,260,703 (GRCm39)	V1396A	probably benign	Het
Ttn	G	T	2: 76,562,436 (GRCm39)	S28803Y	probably damaging	Het
Wdr90	A	T	17: 26,080,441 (GRCm39)		probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het

Other mutations in Cat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02989:Cat	APN	2	103,303,318 (GRCm39)	missense	probably damaging	1.00
PIT4696001:Cat	UTSW	2	103,302,157 (GRCm39)	missense	probably damaging	0.99
R1968:Cat	UTSW	2	103,315,334 (GRCm39)	missense	probably benign	0.01
R2103:Cat	UTSW	2	103,293,660 (GRCm39)	missense	probably damaging	1.00
R2655:Cat	UTSW	2	103,302,191 (GRCm39)	missense	probably damaging	1.00
R3037:Cat	UTSW	2	103,298,122 (GRCm39)	missense	probably benign	0.07
R5527:Cat	UTSW	2	103,303,318 (GRCm39)	missense	probably damaging	1.00
R5694:Cat	UTSW	2	103,303,339 (GRCm39)	missense	probably damaging	1.00
R6089:Cat	UTSW	2	103,303,296 (GRCm39)	missense	probably null	0.48
R6177:Cat	UTSW	2	103,303,420 (GRCm39)	missense	probably damaging	1.00
R6281:Cat	UTSW	2	103,302,114 (GRCm39)	missense	probably damaging	1.00
R6294:Cat	UTSW	2	103,290,640 (GRCm39)	missense	probably benign
R7058:Cat	UTSW	2	103,304,698 (GRCm39)	missense	probably benign	0.31
R7274:Cat	UTSW	2	103,307,235 (GRCm39)	missense	probably benign	0.07
R7347:Cat	UTSW	2	103,293,643 (GRCm39)	missense	probably benign
R7654:Cat	UTSW	2	103,290,709 (GRCm39)	missense	probably damaging	1.00
R7762:Cat	UTSW	2	103,287,203 (GRCm39)	missense	probably benign
R8497:Cat	UTSW	2	103,287,221 (GRCm39)	missense	probably damaging	0.96
R9201:Cat	UTSW	2	103,304,754 (GRCm39)	missense	possibly damaging	0.64
R9322:Cat	UTSW	2	103,303,333 (GRCm39)	missense	probably damaging	1.00
R9561:Cat	UTSW	2	103,307,250 (GRCm39)	missense	probably damaging	0.99
R9593:Cat	UTSW	2	103,285,433 (GRCm39)	missense	probably benign	0.10
R9749:Cat	UTSW	2	103,285,445 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTAGCCCCTTCAAGGTTCAAC -3'
(R):5'- GTTGGAAGATCTCGGAAGGC -3'

Sequencing Primer
(F):5'- GAACAGTGAGTAACCTCCTGCATG -3'
(R):5'- AGATCTCGGAAGGCTGGTGC -3'

Posted On

2016-08-04