Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4696001:Cat'

556771

Institutional Source

Beutler Lab

Gene Symbol

Cat

Ensembl Gene

ENSMUSG00000027187

Gene Name

catalase

Synonyms

Cas1, Cs-1, Cas-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4696001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103284249-103315498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103302157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 180 (D180G)

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: D180G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028610
Gene: ENSMUSG00000027187
AA Change: D180G

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: 93.5%
3x: 91.0%
10x: 86.2%
20x: 75.9%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,384,209 (GRCm39)		probably null	Het
Adam20	T	A	8: 41,247,985 (GRCm39)	Y32N	probably benign	Het
Adm	T	C	7: 110,227,496 (GRCm39)	V4A	probably benign	Het
Anpep	G	A	7: 79,489,212 (GRCm39)	T320I	possibly damaging	Het
Atp8b1	T	C	18: 64,672,341 (GRCm39)	S1008G	possibly damaging	Het
B9d1	T	A	11: 61,396,069 (GRCm39)	M12K	possibly damaging	Het
Cad	T	C	5: 31,229,438 (GRCm39)	L1435P	probably damaging	Het
Cntln	C	T	4: 84,892,237 (GRCm39)	T374M	probably damaging	Het
Cyp2a5	G	A	7: 26,540,404 (GRCm39)	R339Q	probably benign	Het
Defa22	T	C	8: 21,652,352 (GRCm39)	L6P	probably damaging	Het
Dr1	T	A	5: 108,417,604 (GRCm39)	I50K	probably damaging	Het
Eln	C	T	5: 134,766,032 (GRCm39)	G57E	unknown	Het
Fat4	T	C	3: 38,943,153 (GRCm39)	I682T	probably benign	Het
Fat4	C	A	3: 39,036,506 (GRCm39)	A3386E	probably damaging	Het
Fcgr3	T	A	1: 170,885,319 (GRCm39)	Y102F	probably damaging	Het
Gm5930	A	T	14: 44,573,993 (GRCm39)	L115M	probably damaging	Het
Herc1	T	A	9: 66,386,291 (GRCm39)	V3748D	probably damaging	Het
Ino80d	A	G	1: 63,125,145 (GRCm39)	S106P	probably benign	Het
Kcns3	C	T	12: 11,142,749 (GRCm39)		probably benign	Het
Kndc1	T	A	7: 139,512,830 (GRCm39)	L1527Q	probably damaging	Het
Lepr	T	G	4: 101,637,180 (GRCm39)	S690A	probably benign	Het
Lrfn5	T	C	12: 61,890,343 (GRCm39)	F544S	probably damaging	Het
Mapkap1	C	A	2: 34,509,861 (GRCm39)	H450Q	probably damaging	Het
Mdm1	A	G	10: 117,994,445 (GRCm39)	T485A	probably benign	Het
Megf10	T	C	18: 57,410,760 (GRCm39)	C690R	probably damaging	Het
Myo7a	A	G	7: 97,712,806 (GRCm39)	M1723T	probably benign	Het
Nrip3	A	T	7: 109,364,714 (GRCm39)	C137*	probably null	Het
Or5w22	T	A	2: 87,363,124 (GRCm39)	I249N	probably damaging	Het
Pde4a	T	A	9: 21,122,297 (GRCm39)	M731K	probably benign	Het
Pebp1	A	G	5: 117,421,527 (GRCm39)	L117P	probably damaging	Het
Phc2	T	C	4: 128,598,995 (GRCm39)	Y51H	probably damaging	Het
Ppp2r5b	A	G	19: 6,284,713 (GRCm39)	F50S	probably benign	Het
Prpf4b	A	G	13: 35,083,825 (GRCm39)	S865G	probably benign	Het
Ptpn5	C	T	7: 46,738,354 (GRCm39)	V243M	probably benign	Het
Rora	T	C	9: 69,271,841 (GRCm39)	L273P	possibly damaging	Het
Rtp4	T	A	16: 23,432,204 (GRCm39)	S245R	probably benign	Het
Scgb2b20	C	T	7: 33,063,985 (GRCm39)	G95D	probably benign	Het
Sec24b	A	G	3: 129,788,040 (GRCm39)	V820A	probably benign	Het
Sim2	A	G	16: 93,895,168 (GRCm39)	D62G	possibly damaging	Het
Slc17a4	A	T	13: 24,084,497 (GRCm39)	V429D	probably benign	Het
Sp2	T	C	11: 96,852,799 (GRCm39)	T42A	probably damaging	Het
Spata3	G	A	1: 85,952,169 (GRCm39)	R141Q	unknown	Het
Sptbn2	A	T	19: 4,795,605 (GRCm39)	E1658D	probably benign	Het
Tcaf1	T	C	6: 42,655,473 (GRCm39)	H501R	probably benign	Het
Tec	G	A	5: 72,931,178 (GRCm39)	T262M	possibly damaging	Het
Timm9	A	T	12: 71,172,305 (GRCm39)	N22K	possibly damaging	Het
Tln1	C	T	4: 43,542,701 (GRCm39)		probably null	Het
Tmbim4	A	G	10: 120,053,529 (GRCm39)	I109M	probably benign	Het
Tmc7	T	C	7: 118,163,566 (GRCm39)	K110E	probably benign	Het
Tmem107	C	T	11: 68,963,399 (GRCm39)	P136L	probably benign	Het
Ttc21b	T	C	2: 66,061,563 (GRCm39)		probably null	Het
Ubd	A	C	17: 37,506,335 (GRCm39)	T74P	probably damaging	Het
Vps11	A	G	9: 44,269,486 (GRCm39)	V255A	possibly damaging	Het
Vsnl1	T	C	12: 11,376,448 (GRCm39)	T146A	probably benign	Het
Wdr38	G	T	2: 38,889,984 (GRCm39)		probably null	Het
Yes1	T	A	5: 32,841,969 (GRCm39)	S498T	possibly damaging	Het
Zc3h13	G	A	14: 75,569,323 (GRCm39)	R1390H	probably damaging	Het
Zscan4b	A	G	7: 10,635,949 (GRCm39)	V126A	possibly 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
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
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'- CCAACCATCTAAGCATCATGTTAGATG -3'
(R):5'- GCTCTGAGTGCATTTGACAC -3'

Sequencing Primer
(F):5'- GCATCATGTTAGATGTAAACTCTTTG -3'
(R):5'- CCAAAGATGGTTGTATGTACTGAAC -3'

Posted On

2019-06-07