Mutagenetix > Incidental Mutation

Incidental Mutation 'R4226:Rnaseh2a'

320045

Institutional Source

Beutler Lab

Gene Symbol

Rnaseh2a

Ensembl Gene

ENSMUSG00000052926

Gene Name

ribonuclease H2, large subunit

Synonyms

2400006P09Rik

MMRRC Submission

041046-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R4226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85683239-85694498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85686702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 149 (T149I)

Ref Sequence

ENSEMBL: ENSMUSP00000066769 (fasta)

Gene Model

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

AlphaFold

Q9CWY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065049
AA Change: T149I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926
AA Change: T149I

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
AA Change: T149I

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926
AA Change: T149I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109738
AA Change: T149I

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926
AA Change: T149I

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

probably benign
Transcript: ENSMUST00000147812
AA Change: T149I

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926
AA Change: T149I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128972
AA Change: T149I

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926
AA Change: T149I

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: ENSMUST00000126029

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

Meta Mutation Damage Score

0.1283

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,690 (GRCm39)	V279E	possibly damaging	Het
Ache	T	C	5: 137,289,152 (GRCm39)	V286A	possibly damaging	Het
Amotl1	T	C	9: 14,504,974 (GRCm39)	N115S	probably benign	Het
Aoah	A	T	13: 21,163,696 (GRCm39)	Y333F	possibly damaging	Het
Ap4m1	A	T	5: 138,171,079 (GRCm39)	R74*	probably null	Het
Arhgef5	C	T	6: 43,256,432 (GRCm39)	A1180V	probably damaging	Het
Birc6	T	C	17: 74,926,835 (GRCm39)		probably null	Het
Capn11	A	G	17: 45,953,392 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,527,756 (GRCm39)	I187L	probably benign	Het
Cfh	A	T	1: 140,036,664 (GRCm39)	C360S	probably damaging	Het
Csmd1	T	C	8: 16,050,490 (GRCm39)	N2249D	probably damaging	Het
Cyb5r4	T	G	9: 86,939,282 (GRCm39)	I355S	probably damaging	Het
Dnm1l	A	T	16: 16,132,251 (GRCm39)	H653Q	possibly damaging	Het
Frmd4a	C	T	2: 4,337,889 (GRCm39)	R32C	probably benign	Het
Gm16503	C	T	4: 147,625,725 (GRCm39)	S73L	unknown	Het
Hnrnpll	A	T	17: 80,357,234 (GRCm39)		probably null	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Mc1r	A	G	8: 124,134,595 (GRCm39)	N116S	possibly damaging	Het
Micu2	T	C	14: 58,169,742 (GRCm39)	K203E	possibly damaging	Het
Mybpc1	C	T	10: 88,409,387 (GRCm39)	W36*	probably null	Het
Nsd1	C	T	13: 55,408,214 (GRCm39)	T1286I	probably damaging	Het
Or2a56	A	G	6: 42,932,689 (GRCm39)	T86A	probably benign	Het
Or51l14	T	C	7: 103,100,784 (GRCm39)	M80T	probably benign	Het
Pnpla3	C	A	15: 84,063,391 (GRCm39)	N256K	probably benign	Het
Polh	A	G	17: 46,483,520 (GRCm39)	S582P	probably benign	Het
Ryr1	A	C	7: 28,761,576 (GRCm39)	Y3190*	probably null	Het
Sec31b	T	A	19: 44,520,149 (GRCm39)	M212L	probably benign	Het
Smc4	A	G	3: 68,938,800 (GRCm39)	E950G	probably benign	Het
Tlr1	A	T	5: 65,083,060 (GRCm39)	S506T	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem236	G	T	2: 14,179,437 (GRCm39)	E13*	probably null	Het
Tmprss6	C	T	15: 78,330,899 (GRCm39)	V43M	probably damaging	Het
Vegfc	A	G	8: 54,612,445 (GRCm39)	Y156C	probably damaging	Het
Vmn1r39	T	C	6: 66,781,703 (GRCm39)	H205R	possibly damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zan	T	C	5: 137,422,240 (GRCm39)	N2793D	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- CTCACAGGAATCTACTTGCCCC -3'
(R):5'- GTGTAAGGCCTGTGAGTCAG -3'

Sequencing Primer
(F):5'- TACTTGCCCCTACACGAGG -3'
(R):5'- TAACTCCAGTTCCAGAGGGATTG -3'

Posted On

2015-06-12