Incidental Mutation 'R6281:Cat'
| ID |
507944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cat
|
| Ensembl Gene |
ENSMUSG00000027187 |
| Gene Name |
catalase |
| Synonyms |
Cas1, Cs-1, Cas-1 |
| MMRRC Submission |
044451-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
103284249-103315498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103302114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 194
(H194Q)
|
| 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: H194Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028610
Gene: ENSMUSG00000027187
AA Change: H194Q
| 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 |
0.9587 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,258,620 (GRCm39) |
C166F |
probably damaging |
Het |
| Aida |
C |
T |
1: 183,103,145 (GRCm39) |
A237V |
probably damaging |
Het |
| Ankib1 |
T |
C |
5: 3,751,965 (GRCm39) |
T692A |
possibly damaging |
Het |
| As3mt |
T |
C |
19: 46,713,362 (GRCm39) |
V303A |
possibly damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,641,423 (GRCm39) |
|
probably null |
Het |
| Bhmt2 |
G |
A |
13: 93,799,668 (GRCm39) |
P256L |
probably damaging |
Het |
| Bpifb1 |
T |
C |
2: 154,048,385 (GRCm39) |
I140T |
probably damaging |
Het |
| Cbfa2t3 |
C |
A |
8: 123,360,148 (GRCm39) |
R466L |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,135,044 (GRCm39) |
V279A |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,192,105 (GRCm39) |
T75A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm3512 |
T |
A |
14: 7,159,254 (GRCm38) |
D7V |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,957 (GRCm39) |
F44S |
probably damaging |
Het |
| Ighv1-72 |
C |
A |
12: 115,722,023 (GRCm39) |
C5F |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,914,972 (GRCm39) |
L474P |
probably damaging |
Het |
| Mboat2 |
T |
C |
12: 25,007,678 (GRCm39) |
V297A |
probably benign |
Het |
| Muc2 |
C |
G |
7: 141,306,140 (GRCm39) |
C276W |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,264,371 (GRCm39) |
S141G |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,894 (GRCm39) |
*306R |
probably null |
Het |
| Or5p80 |
T |
G |
7: 108,229,609 (GRCm39) |
S137A |
probably benign |
Het |
| Pax5 |
T |
G |
4: 44,691,955 (GRCm39) |
E97A |
probably benign |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,426 (GRCm39) |
D478V |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phf21b |
G |
T |
15: 84,738,946 (GRCm39) |
D38E |
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,101,881 (GRCm39) |
K146R |
probably benign |
Het |
| Rad23a |
A |
T |
8: 85,564,739 (GRCm39) |
M166K |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,936,816 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,040,782 (GRCm39) |
I336N |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,541,219 (GRCm39) |
M358K |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,446,114 (GRCm39) |
M939R |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,442,453 (GRCm39) |
T167S |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,172 (GRCm39) |
V2577M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vezt |
G |
A |
10: 93,809,808 (GRCm39) |
R578C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vwa3b |
T |
A |
1: 37,163,063 (GRCm39) |
L562Q |
probably damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,171,194 (GRCm39) |
N127K |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,805 (GRCm39) |
F373S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,764,708 (GRCm39) |
V693I |
probably benign |
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 |
|
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 |
|
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'- GTTTCCAACCATCTAAGCATCATG -3'
(R):5'- CCAAAGATGGTTGTATGTACTGAAC -3'
Sequencing Primer
(F):5'- CAACCATCTAAGCATCATGTTAGATG -3'
(R):5'- TGAAAGTTTAGCAATCTAGTTTCTGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation