Mutagenetix > Incidental Mutation

Incidental Mutation 'R5344:Rnaseh2a'

422502

Institutional Source

Beutler Lab

Gene Symbol

Rnaseh2a

Ensembl Gene

ENSMUSG00000052926

Gene Name

ribonuclease H2, large subunit

Synonyms

2400006P09Rik

MMRRC Submission

042923-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85683239-85694498 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 85684735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065049] [ENSMUST00000067472] [ENSMUST00000109736] [ENSMUST00000109738] [ENSMUST00000109740] [ENSMUST00000121880] [ENSMUST00000128972] [ENSMUST00000152378] [ENSMUST00000147812]

AlphaFold

Q9CWY8

Predicted Effect

probably benign
Transcript: ENSMUST00000065049

SMART Domains

Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	7.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067472

SMART Domains

Protein: ENSMUSP00000070558
Gene: ENSMUSG00000048617

Domain	Start	End	E-Value	Type
Pfam:Folate_rec	27	203	2e-40	PFAM
low complexity region	224	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109736

SMART Domains

Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	1.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109738

SMART Domains

Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	5.5e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109740

SMART Domains

Protein: ENSMUSP00000105362
Gene: ENSMUSG00000048617

Domain	Start	End	E-Value	Type
Pfam:Folate_rec	27	203	3.5e-42	PFAM
low complexity region	224	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121880

SMART Domains

Protein: ENSMUSP00000113982
Gene: ENSMUSG00000048617

Domain	Start	End	E-Value	Type
Pfam:Folate_rec	27	203	3.5e-42	PFAM
low complexity region	224	234	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126029

Predicted Effect

probably benign
Transcript: ENSMUST00000128972

SMART Domains

Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:RNase_HII	57	268	1.4e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152378

SMART Domains

Protein: ENSMUSP00000132841
Gene: ENSMUSG00000048617

Domain	Start	End	E-Value	Type
Pfam:Folate_rec	2	172	2.8e-38	PFAM
low complexity region	193	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147812

SMART Domains

Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	1.3e-51	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]

Allele List at MGI

All alleles(33) : Targeted(1) Gene trapped(32)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,289,801 (GRCm39)	C1499G	probably benign	Het
Aldoart1	A	G	4: 72,770,352 (GRCm39)	V152A	possibly damaging	Het
Alms1	T	C	6: 85,673,771 (GRCm39)	L3591P	probably benign	Het
Ankrd12	A	T	17: 66,356,843 (GRCm39)	M58K	probably damaging	Het
Asb3	A	C	11: 31,051,114 (GRCm39)	I523L	probably benign	Het
Ascl2	T	C	7: 142,522,436 (GRCm39)	H4R	possibly damaging	Het
Asic2	T	C	11: 80,862,413 (GRCm39)	M246V	probably damaging	Het
Btc	A	T	5: 91,524,779 (GRCm39)	C53S	possibly damaging	Het
Cdhr5	T	C	7: 140,856,437 (GRCm39)	I39M	probably damaging	Het
Cdkn3	T	A	14: 47,004,807 (GRCm39)	M123K	possibly damaging	Het
Cebpz	A	G	17: 79,233,542 (GRCm39)	Y762H	possibly damaging	Het
Ces1g	T	A	8: 94,063,821 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,236,763 (GRCm39)		probably null	Het
Chd7	G	T	4: 8,844,417 (GRCm39)	G1537W	probably damaging	Het
Clca3a2	A	T	3: 144,793,703 (GRCm39)	D317E	probably damaging	Het
Clec3a	C	A	8: 115,149,712 (GRCm39)	N56K	probably damaging	Het
Col11a1	T	A	3: 114,002,011 (GRCm39)		probably null	Het
Cox20	G	A	1: 178,149,598 (GRCm39)		probably benign	Het
Cyp2d22	A	G	15: 82,255,839 (GRCm39)	V471A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,135,163 (GRCm39)	V1339A	probably damaging	Het
Duox2	T	C	2: 122,112,352 (GRCm39)	D1278G	probably benign	Het
Epc1	G	A	18: 6,450,614 (GRCm39)	P284L	probably benign	Het
Evi5l	G	T	8: 4,235,990 (GRCm39)	R61L	possibly damaging	Het
Fbln2	T	C	6: 91,243,365 (GRCm39)	Y914H	probably damaging	Het
Fbxo44	A	G	4: 148,238,030 (GRCm39)	S191P	probably damaging	Het
Fign	A	G	2: 63,809,569 (GRCm39)	I567T	probably benign	Het
Fryl	C	T	5: 73,262,117 (GRCm39)	R550K	probably damaging	Het
Gpcpd1	G	A	2: 132,400,597 (GRCm39)		probably benign	Het
Hectd4	T	C	5: 121,481,739 (GRCm39)	I3096T	probably benign	Het
Hic2	T	A	16: 17,075,712 (GRCm39)	D180E	probably benign	Het
Ibtk	A	G	9: 85,617,057 (GRCm39)	F172L	possibly damaging	Het
Itga1	A	G	13: 115,138,845 (GRCm39)	S369P	possibly damaging	Het
Itgb4	G	A	11: 115,880,575 (GRCm39)	R675Q	probably null	Het
Lrrc3b	T	C	14: 15,358,591 (GRCm38)	D5G	probably damaging	Het
Maml3	T	A	3: 52,011,146 (GRCm39)	D140V	probably damaging	Het
Med21	A	G	6: 146,550,683 (GRCm39)	T65A	probably benign	Het
Mta1	T	C	12: 113,095,186 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,430 (GRCm39)	D152G	probably damaging	Het
Oas1b	C	A	5: 120,960,269 (GRCm39)	Q325K	probably benign	Het
Or10j27	A	G	1: 172,958,673 (GRCm39)	L37P	probably benign	Het
Or2n1c	C	A	17: 38,519,995 (GRCm39)	N286K	probably damaging	Het
Or5d44	A	C	2: 88,141,334 (GRCm39)	C269G	probably benign	Het
Pclo	A	G	5: 14,726,626 (GRCm39)		probably benign	Het
Phactr2	C	T	10: 13,129,360 (GRCm39)	V233I	possibly damaging	Het
Plekha2	A	T	8: 25,533,063 (GRCm39)		probably null	Het
Reg3b	A	G	6: 78,349,843 (GRCm39)	M128V	probably benign	Het
Scn5a	T	C	9: 119,363,073 (GRCm39)	S516G	probably benign	Het
Serpina12	T	A	12: 104,001,807 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,000,540 (GRCm39)	T320A	possibly damaging	Het
Slc26a7	A	T	4: 14,519,402 (GRCm39)	D539E	probably benign	Het
Specc1l	C	A	10: 75,082,007 (GRCm39)	R485S	possibly damaging	Het
Srp54b	T	G	12: 55,302,366 (GRCm39)	I339S	probably damaging	Het
Tada1	G	A	1: 166,207,081 (GRCm39)		probably benign	Het
Trim16	T	C	11: 62,711,751 (GRCm39)	C54R	probably damaging	Het
Trio	C	T	15: 27,735,618 (GRCm39)	R2824Q	probably benign	Het
Ttpa	A	G	4: 20,021,245 (GRCm39)	I138V	probably damaging	Het
Ubap2	A	C	4: 41,251,578 (GRCm39)	M18R	possibly damaging	Het
Usp38	A	G	8: 81,712,392 (GRCm39)	S548P	possibly damaging	Het
Vmn2r73	T	C	7: 85,525,046 (GRCm39)	D34G	probably benign	Het
Vps13d	T	A	4: 144,904,904 (GRCm39)	H74L	probably damaging	Het
Zfp408	C	T	2: 91,475,588 (GRCm39)	C622Y	probably benign	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly damaging	Het
Zfp9	C	A	6: 118,442,140 (GRCm39)	C174F	probably damaging	Het
Zfyve16	A	G	13: 92,658,096 (GRCm39)	I605T	possibly damaging	Het
Zmym5	T	C	14: 57,031,519 (GRCm39)	T530A	probably damaging	Het

Other mutations in Rnaseh2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Rnaseh2a	APN	8	85,691,752 (GRCm39)	unclassified	probably benign
IGL01773:Rnaseh2a	APN	8	85,691,767 (GRCm39)	missense	probably damaging	1.00
IGL02606:Rnaseh2a	APN	8	85,686,723 (GRCm39)	missense	probably damaging	1.00
P0016:Rnaseh2a	UTSW	8	85,686,429 (GRCm39)	missense	probably damaging	1.00
R1521:Rnaseh2a	UTSW	8	85,692,487 (GRCm39)	critical splice donor site	probably null
R2270:Rnaseh2a	UTSW	8	85,692,048 (GRCm39)	missense	probably benign	0.03
R4226:Rnaseh2a	UTSW	8	85,686,702 (GRCm39)	missense	possibly damaging	0.72
R4227:Rnaseh2a	UTSW	8	85,686,702 (GRCm39)	missense	possibly damaging	0.72
R4763:Rnaseh2a	UTSW	8	85,692,021 (GRCm39)	missense	probably benign	0.02
R8000:Rnaseh2a	UTSW	8	85,692,678 (GRCm39)	unclassified	probably benign
R8354:Rnaseh2a	UTSW	8	85,691,776 (GRCm39)	missense	probably benign
R8454:Rnaseh2a	UTSW	8	85,691,776 (GRCm39)	missense	probably benign
R8964:Rnaseh2a	UTSW	8	85,686,434 (GRCm39)	missense	probably benign	0.00
R9710:Rnaseh2a	UTSW	8	85,684,638 (GRCm39)	missense	probably damaging	1.00
R9735:Rnaseh2a	UTSW	8	85,686,661 (GRCm39)	missense	probably damaging	1.00
RF008:Rnaseh2a	UTSW	8	85,686,687 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGACTGGCCACTTCCCATC -3'
(R):5'- TTAAGTCAACAGTGGAGGGTGTC -3'

Sequencing Primer
(F):5'- TTCCCATCGGGCTGAGTGAAC -3'
(R):5'- AACAGTGGAGGGTGTCTTGGTAC -3'

Posted On

2016-08-04