Mutagenetix > Incidental Mutation

Incidental Mutation 'R6089:Cat'

484634

Institutional Source

Beutler Lab

Gene Symbol

Cat

Ensembl Gene

ENSMUSG00000027187

Gene Name

catalase

Synonyms

Cas1, Cs-1, Cas-1

MMRRC Submission

044246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6089 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103284249-103315498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103303296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 160 (L160F)

Ref Sequence

ENSEMBL: ENSMUSP00000028610 (fasta)

Gene Model

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

AlphaFold

P24270

Predicted Effect

probably null
Transcript: ENSMUST00000028610
AA Change: L160F

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028610
Gene: ENSMUSG00000027187
AA Change: L160F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	G	1: 125,335,132 (GRCm39)	V95A	probably damaging	Het
Ankrd40	A	T	11: 94,224,751 (GRCm39)	K53N	probably damaging	Het
Ash1l	C	T	3: 88,960,450 (GRCm39)	Q2338*	probably null	Het
Astn2	A	G	4: 65,712,810 (GRCm39)	F610S	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 127,950,511 (GRCm39)		probably benign	Het
Btbd8	C	T	5: 107,654,895 (GRCm39)	A386V	probably damaging	Het
Calm4	A	T	13: 3,887,874 (GRCm39)		probably benign	Het
Card10	T	C	15: 78,686,614 (GRCm39)	T68A	probably benign	Het
Cars2	A	G	8: 11,580,301 (GRCm39)	M245T	probably damaging	Het
Cers5	G	T	15: 99,638,883 (GRCm39)	T144K	probably benign	Het
Cyp3a13	T	A	5: 137,908,215 (GRCm39)	L211F	probably benign	Het
Defb4	A	T	8: 19,251,321 (GRCm39)	R63*	probably null	Het
Dnah14	G	T	1: 181,577,719 (GRCm39)	W3012L	probably damaging	Het
Dusp18	A	G	11: 3,847,555 (GRCm39)	T182A	probably benign	Het
Dzip1l	C	A	9: 99,524,737 (GRCm39)	T286K	possibly damaging	Het
Eif2ak3	A	T	6: 70,873,918 (GRCm39)	T944S	possibly damaging	Het
Fbn1	A	T	2: 125,163,145 (GRCm39)	I2119N	possibly damaging	Het
Gabbr2	A	G	4: 46,846,448 (GRCm39)	S154P	probably damaging	Het
Gm15440	A	T	13: 51,845,437 (GRCm39)	H107Q	unknown	Het
Grm2	G	A	9: 106,531,090 (GRCm39)	P133L	probably damaging	Het
Gsdme	A	G	6: 50,228,285 (GRCm39)	V61A	probably damaging	Het
Gtpbp1	A	G	15: 79,591,198 (GRCm39)	T23A	probably benign	Het
Helz	A	T	11: 107,485,963 (GRCm39)		probably null	Het
Herc1	A	C	9: 66,352,814 (GRCm39)	H2100P	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ifngr1	T	C	10: 19,482,048 (GRCm39)	S213P	probably benign	Het
Itgb7	T	C	15: 102,125,721 (GRCm39)	D636G	probably benign	Het
Mre11a	G	A	9: 14,730,760 (GRCm39)	D491N	probably benign	Het
Muc16	A	G	9: 18,554,548 (GRCm39)	L3915P	unknown	Het
Myh1	T	A	11: 67,092,993 (GRCm39)		probably null	Het
Myh1	T	G	11: 67,111,613 (GRCm39)		probably null	Het
Myh7b	C	T	2: 155,464,409 (GRCm39)	T608M	probably damaging	Het
Myof	T	C	19: 37,955,508 (GRCm39)	K23E	probably benign	Het
Nacad	A	G	11: 6,551,331 (GRCm39)	V620A	probably benign	Het
Pbrm1	T	C	14: 30,809,542 (GRCm39)	Y1121H	probably damaging	Het
Pcdha9	T	C	18: 37,131,551 (GRCm39)	F207L	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Pigg	A	T	5: 108,489,788 (GRCm39)	M798L	probably benign	Het
Poc5	G	T	13: 96,533,179 (GRCm39)	M102I	probably damaging	Het
Ppp2r3d	T	A	9: 101,088,835 (GRCm39)	Q496L	probably benign	Het
Ptprf	A	G	4: 118,068,281 (GRCm39)	Y1752H	probably damaging	Het
Ptpru	G	C	4: 131,499,941 (GRCm39)	S1244R	possibly damaging	Het
Rnf213	A	G	11: 119,307,385 (GRCm39)	K682E	probably benign	Het
Rtp3	T	C	9: 110,816,041 (GRCm39)	D170G	probably benign	Het
Sall4	T	C	2: 168,597,406 (GRCm39)	D478G	possibly damaging	Het
Scai	A	T	2: 38,973,566 (GRCm39)	Y58*	probably null	Het
Simc1	G	A	13: 54,676,303 (GRCm39)	V1007M	probably benign	Het
Tcf20	G	T	15: 82,737,409 (GRCm39)	D1347E	probably benign	Het
Tdo2	T	C	3: 81,870,035 (GRCm39)	Y279C	probably damaging	Het
Trdn	C	T	10: 33,340,571 (GRCm39)	P602S	probably benign	Het
Txndc5	A	T	13: 38,707,392 (GRCm39)	M1K	probably null	Het
Ubr2	A	C	17: 47,293,218 (GRCm39)	M356R	possibly damaging	Het
Uqcrc2	A	T	7: 120,253,232 (GRCm39)	D332V	probably damaging	Het
Usp48	T	C	4: 137,333,129 (GRCm39)	F108L	probably damaging	Het
Vill	A	G	9: 118,886,867 (GRCm39)	N4S	probably benign	Het
Vmn1r11	T	C	6: 57,114,645 (GRCm39)	V103A	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,336 (GRCm39)	D278G	probably benign	Het
Vps35l	T	G	7: 118,345,658 (GRCm39)	S59A	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,586 (GRCm39)	L79*	probably null	Het
Xxylt1	C	T	16: 30,899,799 (GRCm39)	V119M	probably damaging	Het
Zfp26	G	T	9: 20,348,989 (GRCm39)	A525D	probably damaging	Het
Zgrf1	G	A	3: 127,389,642 (GRCm39)	G396D	probably damaging	Het
Zkscan16	A	G	4: 58,948,889 (GRCm39)	D148G	possibly damaging	Het
Zscan26	G	T	13: 21,632,499 (GRCm39)	S77R	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
R5287:Cat	UTSW	2	103,304,705 (GRCm39)	missense	probably damaging	1.00
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
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'- GCCAATGGTAATTATCACTTGATCT -3'
(R):5'- GCAATATGCTTGGATGTGTTTCA -3'

Sequencing Primer
(F):5'- TGGACTGAACCTCTGCAACTGTAAG -3'
(R):5'- ATATGCTTGGATGTGTTTCATTCTTC -3'

Posted On

2017-08-16