Mutagenetix > Incidental Mutation

Incidental Mutation 'R4971:Prdx1'

384438

Institutional Source

Beutler Lab

Gene Symbol

Prdx1

Ensembl Gene

ENSMUSG00000028691

Gene Name

peroxiredoxin 1

Synonyms

Paga, Trx dependent peroxide reductase 2, osteoblast specific factor 3, Prx I, macrophase stress protein 22kDa, macrophage 23kDa stress protein, PAG, Tdpx2, PrxI, thioredoxin dependent peroxide reductase 2, TDX2, OSF-3, MSP23, prx1

MMRRC Submission

042566-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.643) question?

Stock #

R4971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116542796-116557196 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 116549128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030454] [ENSMUST00000030454] [ENSMUST00000106470] [ENSMUST00000106470] [ENSMUST00000129315] [ENSMUST00000129315] [ENSMUST00000135573] [ENSMUST00000135573] [ENSMUST00000151129] [ENSMUST00000151129]

AlphaFold

P35700

Predicted Effect

probably null
Transcript: ENSMUST00000030454

SMART Domains

Protein: ENSMUSP00000030454
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	1.1e-18	PFAM
Pfam:AhpC-TSA	8	142	9e-44	PFAM
Pfam:1-cysPrx_C	162	176	8e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000030454

SMART Domains

Protein: ENSMUSP00000030454
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	1.1e-18	PFAM
Pfam:AhpC-TSA	8	142	9e-44	PFAM
Pfam:1-cysPrx_C	162	176	8e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106470

SMART Domains

Protein: ENSMUSP00000102078
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	157	2.7e-17	PFAM
Pfam:AhpC-TSA	8	142	6.1e-42	PFAM
Pfam:1-cysPrx_C	162	197	2.2e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106470

SMART Domains

Protein: ENSMUSP00000102078
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	157	2.7e-17	PFAM
Pfam:AhpC-TSA	8	142	6.1e-42	PFAM
Pfam:1-cysPrx_C	162	197	2.2e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000129315

SMART Domains

Protein: ENSMUSP00000117007
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	123	3.3e-14	PFAM
Pfam:AhpC-TSA	8	123	1.8e-37	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000129315

SMART Domains

Protein: ENSMUSP00000117007
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	123	3.3e-14	PFAM
Pfam:AhpC-TSA	8	123	1.8e-37	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000135573

SMART Domains

Protein: ENSMUSP00000114159
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	3.8e-18	PFAM
Pfam:AhpC-TSA	8	142	2.8e-43	PFAM
Pfam:1-cysPrx_C	162	197	2.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000135573

SMART Domains

Protein: ENSMUSP00000114159
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	3.8e-18	PFAM
Pfam:AhpC-TSA	8	142	2.8e-43	PFAM
Pfam:1-cysPrx_C	162	197	2.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000151129

SMART Domains

Protein: ENSMUSP00000119794
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	9.8e-19	PFAM
Pfam:AhpC-TSA	8	142	8e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000151129

SMART Domains

Protein: ENSMUSP00000119794
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	9.8e-19	PFAM
Pfam:AhpC-TSA	8	142	8e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156145

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mutant mice exhibit defects in antioxidant defense that manifest as hemolytic anemia and malignancies. The phenotype is more severe in homozygous mutant mice which die prematurely. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,524,190 (GRCm39)	F1147L	probably damaging	Het
Abca2	T	C	2: 25,332,006 (GRCm39)	S1373P	probably damaging	Het
Abca9	A	T	11: 110,042,874 (GRCm39)	S392T	probably benign	Het
Abcd2	T	C	15: 91,047,313 (GRCm39)	D580G	probably benign	Het
Actl9	T	A	17: 33,652,882 (GRCm39)	L314H	probably damaging	Het
Adamtsl1	T	C	4: 86,255,168 (GRCm39)	F746L	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Cdkl3	T	C	11: 51,901,995 (GRCm39)	V68A	possibly damaging	Het
Cnot1	A	G	8: 96,448,254 (GRCm39)	F2266S	probably damaging	Het
Colq	T	C	14: 31,267,034 (GRCm39)	R159G	probably damaging	Het
Ctse	A	T	1: 131,592,130 (GRCm39)	D152V	probably damaging	Het
Cul7	G	T	17: 46,970,045 (GRCm39)	M1011I	probably benign	Het
Cyb5r4	G	T	9: 86,939,224 (GRCm39)	V336L	possibly damaging	Het
Dync2h1	A	T	9: 7,131,949 (GRCm39)	H1619Q	probably benign	Het
Eif2ak1	A	G	5: 143,818,986 (GRCm39)	K216E	probably damaging	Het
F5	A	T	1: 164,021,755 (GRCm39)	H1410L	probably benign	Het
Frem2	T	C	3: 53,446,604 (GRCm39)	Y2388C	probably damaging	Het
Fsip2	C	T	2: 82,816,222 (GRCm39)	T3985M	probably benign	Het
Gak	T	C	5: 108,744,672 (GRCm39)	Y535C	probably damaging	Het
Gzmc	G	T	14: 56,469,826 (GRCm39)	P158Q	probably damaging	Het
Hook3	A	G	8: 26,572,607 (GRCm39)	Y135H	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Ing4	A	T	6: 125,020,961 (GRCm39)	M28L	probably benign	Het
Irs3	T	A	5: 137,642,754 (GRCm39)	D228V	probably damaging	Het
Jade1	T	A	3: 41,555,836 (GRCm39)	I301N	probably damaging	Het
Kif13b	T	A	14: 64,995,011 (GRCm39)	M921K	possibly damaging	Het
Kmt2c	A	G	5: 25,515,870 (GRCm39)	S2658P	probably benign	Het
Map3k4	A	G	17: 12,468,382 (GRCm39)		probably null	Het
Map4k5	C	T	12: 69,899,493 (GRCm39)	V53I	possibly damaging	Het
Mdn1	T	C	4: 32,739,827 (GRCm39)	S3694P	probably damaging	Het
Mroh7	A	G	4: 106,548,749 (GRCm39)	V1038A	probably benign	Het
Muc5ac	T	C	7: 141,370,015 (GRCm39)	V3185A	possibly damaging	Het
Mup5	T	A	4: 61,751,297 (GRCm39)	N117I	probably benign	Het
Myo19	T	A	11: 84,783,023 (GRCm39)	M179K	probably damaging	Het
Myo1c	A	G	11: 75,562,414 (GRCm39)	Y902C	probably damaging	Het
Nf1	T	A	11: 79,335,469 (GRCm39)	I977K	probably damaging	Het
Nos1	T	C	5: 118,081,899 (GRCm39)	V1240A	probably benign	Het
Nr3c1	T	C	18: 39,619,930 (GRCm39)	D119G	probably damaging	Het
Oga	C	A	19: 45,758,485 (GRCm39)		probably null	Het
Or4c107	A	T	2: 88,788,863 (GRCm39)	N18Y	probably damaging	Het
Pdlim2	A	G	14: 70,405,208 (GRCm39)	V219A	probably damaging	Het
Pira13	T	A	7: 3,825,805 (GRCm39)	M355L	probably benign	Het
Polr1g	T	C	7: 19,091,487 (GRCm39)	N207D	probably benign	Het
Rbfox1	C	T	16: 7,111,952 (GRCm39)	R173C	probably damaging	Het
Rbp3	T	A	14: 33,676,427 (GRCm39)	V125D	probably damaging	Het
Resf1	T	C	6: 149,227,097 (GRCm39)		probably benign	Het
Rhot1	T	A	11: 80,124,300 (GRCm39)	I154K	probably damaging	Het
Runx1t1	C	T	4: 13,837,978 (GRCm39)	R129C	probably damaging	Het
Setbp1	A	G	18: 78,901,382 (GRCm39)	S762P	probably benign	Het
Slc13a3	A	G	2: 165,290,619 (GRCm39)	I67T	probably damaging	Het
Tbc1d2b	A	T	9: 90,100,923 (GRCm39)	M689K	probably benign	Het
Top2a	T	C	11: 98,884,667 (GRCm39)	Y1517C	probably damaging	Het
Txndc2	A	T	17: 65,945,849 (GRCm39)	N109K	probably damaging	Het
Tyk2	A	G	9: 21,031,797 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,096,838 (GRCm39)	L320*	probably null	Het
Zfp456	T	C	13: 67,514,995 (GRCm39)	E237G	probably benign	Het
Zscan10	A	G	17: 23,826,147 (GRCm39)	E103G	possibly damaging	Het

Other mutations in Prdx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Prdx1	APN	4	116,550,147 (GRCm39)	missense	probably benign	0.01
IGL00654:Prdx1	APN	4	116,550,162 (GRCm39)	missense	probably benign	0.03
IGL00769:Prdx1	APN	4	116,550,162 (GRCm39)	missense	probably benign	0.03
IGL00851:Prdx1	APN	4	116,550,147 (GRCm39)	missense	probably benign	0.01
IGL02224:Prdx1	APN	4	116,549,064 (GRCm39)	missense	probably damaging	1.00
R1891:Prdx1	UTSW	4	116,556,451 (GRCm39)	makesense	probably null
R2568:Prdx1	UTSW	4	116,550,997 (GRCm39)	missense	probably benign	0.00
R4495:Prdx1	UTSW	4	116,556,416 (GRCm39)	missense	probably benign	0.13
R5610:Prdx1	UTSW	4	116,550,124 (GRCm39)	missense	probably damaging	1.00
R5630:Prdx1	UTSW	4	116,556,414 (GRCm39)	missense	probably benign	0.00
R5828:Prdx1	UTSW	4	116,551,006 (GRCm39)	missense	probably damaging	1.00
R7861:Prdx1	UTSW	4	116,550,935 (GRCm39)	missense	probably benign
R8312:Prdx1	UTSW	4	116,556,398 (GRCm39)	missense	possibly damaging	0.83
Z1176:Prdx1	UTSW	4	116,544,678 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGCCCCTAGATCAGAAACTC -3'
(R):5'- GTGGTACAAGGTATTCATGAGGC -3'

Sequencing Primer
(F):5'- CTTCAAAGCTAACTTCTTGATTGC -3'
(R):5'- AATGAGATCTGAAGCCCTCTTCTGG -3'

Posted On

2016-04-27