Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01773:Rnaseh2a'

153714

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 #

IGL01773

Quality Score

Status

Chromosome

Chromosomal Location

85683239-85694498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85691767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 136 (V136D)

Ref Sequence

ENSEMBL: ENSMUSP00000066769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005292] [ENSMUST00000065049] [ENSMUST00000109733] [ENSMUST00000109734] [ENSMUST00000109736] [ENSMUST00000109738] [ENSMUST00000147812] [ENSMUST00000128972] [ENSMUST00000130902] [ENSMUST00000140561] [ENSMUST00000125893] [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 damaging
Transcript: ENSMUST00000065049
AA Change: V136D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926
AA Change: V136D

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

possibly damaging
Transcript: ENSMUST00000109736
AA Change: V136D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926
AA Change: V136D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109738
AA Change: V136D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926
AA Change: V136D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122931

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147812
AA Change: V136D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926
AA Change: V136D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128972
AA Change: V136D

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926
AA Change: V136D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143402

Predicted Effect

probably benign
Transcript: ENSMUST00000130902

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: 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: 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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1s	C	A	1: 136,046,491 (GRCm39)	H1775Q	probably benign	Het
Calcrl	A	G	2: 84,200,787 (GRCm39)	Y86H	probably benign	Het
Ccdc63	T	C	5: 122,251,208 (GRCm39)	K401E	possibly damaging	Het
Col9a1	A	G	1: 24,244,147 (GRCm39)	T127A	probably benign	Het
Cpq	T	A	15: 33,212,996 (GRCm39)	F5Y	probably benign	Het
Cuzd1	T	A	7: 130,916,614 (GRCm39)	M282L	probably damaging	Het
Ddx10	C	A	9: 53,115,430 (GRCm39)	D635Y	possibly damaging	Het
Ect2l	T	C	10: 18,037,252 (GRCm39)	D382G	probably damaging	Het
Ganc	T	C	2: 120,290,365 (GRCm39)	S901P	possibly damaging	Het
Gpr179	G	A	11: 97,232,192 (GRCm39)	R671C	probably benign	Het
Isl2	T	C	9: 55,451,504 (GRCm39)	L219P	probably damaging	Het
Mfsd13a	T	C	19: 46,357,733 (GRCm39)	S296P	possibly damaging	Het
Mtmr7	A	T	8: 41,034,461 (GRCm39)	L287Q	probably damaging	Het
Or11g25	T	C	14: 50,723,230 (GRCm39)	F105S	probably damaging	Het
Or52d13	T	G	7: 103,110,221 (GRCm39)	M60L	possibly damaging	Het
Or7a39	A	G	10: 78,715,770 (GRCm39)	T255A	possibly damaging	Het
Or8g28	A	G	9: 39,169,830 (GRCm39)	I46T	probably damaging	Het
Pik3c3	T	A	18: 30,410,155 (GRCm39)	F130I	probably damaging	Het
Rab3gap1	T	A	1: 127,845,958 (GRCm39)	S277R	possibly damaging	Het
Rassf9	A	G	10: 102,381,494 (GRCm39)	K290R	probably benign	Het
Rnf39	C	T	17: 37,256,328 (GRCm39)	S140L	possibly damaging	Het
Sbno2	A	G	10: 79,893,665 (GRCm39)	V1212A	probably damaging	Het
Slc4a10	A	T	2: 62,021,101 (GRCm39)	I50F	probably damaging	Het
Slfn5	A	T	11: 82,852,157 (GRCm39)	E761V	probably damaging	Het
Sptlc1	A	G	13: 53,531,334 (GRCm39)	Y18H	probably damaging	Het
Tfam	A	G	10: 71,072,805 (GRCm39)	M9T	possibly damaging	Het
Tmem186	A	G	16: 8,453,841 (GRCm39)	L140P	probably damaging	Het
Try4	A	T	6: 41,281,960 (GRCm39)	N182I	probably damaging	Het
Vmn1r209	C	T	13: 22,990,450 (GRCm39)	C80Y	probably damaging	Het
Vmn2r104	A	T	17: 20,260,930 (GRCm39)	S498T	probably benign	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
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

2014-02-04