Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01318:Rnaseh2a'

73954

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnaseh2a

Ensembl Gene

ENSMUSG00000052926

Gene Name

ribonuclease H2, large subunit

Synonyms

2400006P09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL01318

Quality Score

Status

Chromosome

Chromosomal Location

85683239-85694498 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 85691752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005292] [ENSMUST00000065049] [ENSMUST00000109733] [ENSMUST00000109734] [ENSMUST00000109736] [ENSMUST00000109738] [ENSMUST00000128972] [ENSMUST00000147812] [ENSMUST00000130902] [ENSMUST00000125893] [ENSMUST00000140561] [ENSMUST00000214133]

AlphaFold

Q9CWY8

Predicted Effect

probably benign
Transcript: ENSMUST00000005292

SMART Domains

Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	157	3.9e-20	PFAM
Pfam:AhpC-TSA	8	141	5.6e-44	PFAM
Pfam:1-cysPrx_C	161	196	8.6e-17	PFAM

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: ENSMUST00000109733

SMART Domains

Protein: ENSMUSP00000105355
Gene: ENSMUSG00000005161

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	159	1.3e-21	PFAM
Pfam:AhpC-TSA	8	141	1.3e-44	PFAM
Pfam:1-cysPrx_C	161	196	8.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109734

SMART Domains

Protein: ENSMUSP00000105356
Gene: ENSMUSG00000005161

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	159	1.3e-21	PFAM
Pfam:AhpC-TSA	8	141	1.3e-44	PFAM
Pfam:1-cysPrx_C	161	196	8.6e-17	PFAM

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

noncoding transcript
Transcript: ENSMUST00000122931

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: ENSMUST00000147812

SMART Domains

Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138748

Predicted Effect

probably benign
Transcript: ENSMUST00000130902

Predicted Effect

probably benign
Transcript: ENSMUST00000125893

SMART Domains

Protein: ENSMUSP00000122694
Gene: ENSMUSG00000005161

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	147	1.4e-21	PFAM
Pfam:AhpC-TSA	8	141	2.3e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140561

SMART Domains

Protein: ENSMUSP00000118442
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	54	4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214133

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg10b	T	C	15: 90,112,592 (GRCm39)		probably benign	Het
Ambn	T	C	5: 88,608,554 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,297,296 (GRCm39)	D585G	probably null	Het
Chaf1a	G	T	17: 56,366,336 (GRCm39)		probably benign	Het
Ddhd1	A	G	14: 45,854,008 (GRCm39)	S443P	probably damaging	Het
Dlk2	A	G	17: 46,613,390 (GRCm39)	E215G	probably damaging	Het
Efhd2	T	C	4: 141,587,176 (GRCm39)	N202S	probably benign	Het
Gkap1	A	T	13: 58,384,853 (GRCm39)	I308K	probably damaging	Het
Gm9848	T	A	13: 113,244,774 (GRCm39)		noncoding transcript	Het
Hmcn1	G	A	1: 150,594,991 (GRCm39)	T1826I	probably damaging	Het
Htr5a	T	C	5: 28,047,742 (GRCm39)	V99A	probably benign	Het
Inha	T	G	1: 75,486,572 (GRCm39)	F289C	probably damaging	Het
Kcna3	T	C	3: 106,945,294 (GRCm39)	V519A	probably benign	Het
Kcnma1	A	T	14: 23,364,390 (GRCm39)		probably benign	Het
Kctd1	A	G	18: 15,195,747 (GRCm39)	V292A	possibly damaging	Het
Magea13	T	A	X: 57,964,829 (GRCm39)	I196N	probably damaging	Het
Map2k4	A	G	11: 65,647,089 (GRCm39)		probably benign	Het
Mfap2	G	T	4: 140,742,856 (GRCm39)	A175S	possibly damaging	Het
Milr1	G	A	11: 106,656,071 (GRCm39)	A114T	possibly damaging	Het
Mogs	G	T	6: 83,095,558 (GRCm39)	V792F	probably damaging	Het
Nt5dc3	T	A	10: 86,661,089 (GRCm39)	M418K	possibly damaging	Het
Or5b12	A	G	19: 12,897,490 (GRCm39)	L61P	probably damaging	Het
Or7d10	A	G	9: 19,832,054 (GRCm39)	E183G	probably benign	Het
Or8h8	A	T	2: 86,753,293 (GRCm39)	N194K	probably benign	Het
Osbpl10	G	A	9: 115,061,190 (GRCm39)	W756*	probably null	Het
Pgam5	A	G	5: 110,413,391 (GRCm39)	Y235H	probably damaging	Het
Pgm5	G	T	19: 24,793,842 (GRCm39)	A274E	probably damaging	Het
Prex1	C	A	2: 166,411,260 (GRCm39)		probably benign	Het
Prps1l1	A	T	12: 35,035,377 (GRCm39)	N164I	probably benign	Het
Ralbp1	C	A	17: 66,171,277 (GRCm39)	R232L	probably damaging	Het
Stard9	A	T	2: 120,529,200 (GRCm39)	H1819L	possibly damaging	Het
Stom	T	A	2: 35,226,889 (GRCm39)	I15F	probably benign	Het
Tasor2	A	C	13: 3,625,067 (GRCm39)	S946A	possibly damaging	Het
Tph1	T	G	7: 46,314,662 (GRCm39)	T22P	probably damaging	Het
Uqcrfs1	A	G	13: 30,724,904 (GRCm39)	I212T	probably benign	Het
Ush2a	T	C	1: 188,546,550 (GRCm39)	I3442T	probably benign	Het
Vinac1	C	A	2: 128,880,622 (GRCm39)	V435L	probably benign	Het
Vmn2r113	A	G	17: 23,177,309 (GRCm39)	I698V	probably benign	Het
Vmn2r75	T	C	7: 85,814,774 (GRCm39)	I240V	probably benign	Het
Wdr17	T	C	8: 55,125,585 (GRCm39)	T432A	probably damaging	Het

Other mutations in Rnaseh2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5344:Rnaseh2a	UTSW	8	85,684,735 (GRCm39)	unclassified	probably benign
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

Posted On

2013-10-07