Mutagenetix > Incidental Mutation

Incidental Mutation 'R9710:Rnaseh2a'

730072

Institutional Source

Beutler Lab

Gene Symbol

Rnaseh2a

Ensembl Gene

ENSMUSG00000052926

Gene Name

ribonuclease H2, large subunit

Synonyms

2400006P09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85683239-85694498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85684638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 241 (T241A)

Ref Sequence

ENSEMBL: ENSMUSP00000105360 (fasta)

Gene Model

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

AlphaFold

Q9CWY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065049
AA Change: T241A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926
AA Change: T241A

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 damaging
Transcript: ENSMUST00000109736
AA Change: T241A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926
AA Change: T241A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109738
AA Change: T241A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926
AA Change: T241A

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

SMART Domains

Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926
AA Change: T241A

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 damaging
Transcript: ENSMUST00000147812
AA Change: T241A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926
AA Change: T241A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,946,852 (GRCm39)	S250P	probably benign	Het
Ahcyl1	T	A	3: 107,578,494 (GRCm39)	I248F	possibly damaging	Het
Alpk2	T	A	18: 65,482,646 (GRCm39)	E454V	probably damaging	Het
Ank3	A	T	10: 69,829,070 (GRCm39)	T2580S		Het
Anks1	G	A	17: 28,128,571 (GRCm39)	G46R	possibly damaging	Het
Arhgap45	A	G	10: 79,857,635 (GRCm39)	E322G	probably damaging	Het
Arhgef2	T	C	3: 88,528,576 (GRCm39)	I4T	probably benign	Het
C1qtnf4	T	C	2: 90,720,351 (GRCm39)	I208T	probably damaging	Het
Cachd1	T	A	4: 100,832,092 (GRCm39)	N751K	probably benign	Het
Cacna1a	G	T	8: 85,320,808 (GRCm39)	V1589F	possibly damaging	Het
Cacnb1	T	C	11: 97,902,197 (GRCm39)	H205R	probably benign	Het
Castor1	A	G	11: 4,169,015 (GRCm39)	K61E	probably benign	Het
Ccdc9b	G	T	2: 118,591,077 (GRCm39)	A152E	probably benign	Het
Clvs2	C	A	10: 33,389,307 (GRCm39)	R311L	probably benign	Het
Crim1	G	T	17: 78,610,504 (GRCm39)	G320*	probably null	Het
Crtam	A	T	9: 40,895,671 (GRCm39)	D218E	probably benign	Het
Cwc27	G	A	13: 104,943,158 (GRCm39)	T128I	probably damaging	Het
Cyp4a14	T	A	4: 115,349,347 (GRCm39)	I238F	probably benign	Het
D930020B18Rik	A	C	10: 121,503,563 (GRCm39)	E246A	probably benign	Het
Dsg1c	T	A	18: 20,410,044 (GRCm39)	V504E	probably benign	Het
Enpp6	T	A	8: 47,518,948 (GRCm39)	S239T	probably damaging	Het
Eri2	A	T	7: 119,384,824 (GRCm39)	I559N	probably benign	Het
Fbxo34	T	C	14: 47,768,724 (GRCm39)	Y746H	probably damaging	Het
Galr1	A	T	18: 82,424,103 (GRCm39)	L58Q	probably damaging	Het
Ghdc	A	G	11: 100,658,863 (GRCm39)	V423A	probably benign	Het
Glt28d2	T	C	3: 85,779,059 (GRCm39)	D138G	probably benign	Het
Gm266	A	T	12: 111,451,763 (GRCm39)	C148S	probably benign	Het
Gnas	C	T	2: 174,141,132 (GRCm39)	T493M	unknown	Het
Hivep2	T	C	10: 14,015,203 (GRCm39)	I1790T	probably damaging	Het
Impg1	A	G	9: 80,287,276 (GRCm39)	V390A	probably benign	Het
Isy1	A	G	6: 87,796,574 (GRCm39)	F239L	possibly damaging	Het
Itgb5	A	G	16: 33,685,917 (GRCm39)	T86A	probably benign	Het
Itpr1	T	C	6: 108,382,481 (GRCm39)	C1458R	possibly damaging	Het
Krt28	T	C	11: 99,255,921 (GRCm39)	E446G	probably damaging	Het
Lama1	A	T	17: 68,129,404 (GRCm39)	Q3071L		Het
Lasp1	A	G	11: 97,697,593 (GRCm39)		probably benign	Het
Lmf2	T	C	15: 89,237,419 (GRCm39)	K348E	probably benign	Het
Lrch3	G	T	16: 32,796,108 (GRCm39)	E331*	probably null	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map7d1	C	A	4: 126,127,440 (GRCm39)		probably null	Het
Marchf8	C	T	6: 116,378,405 (GRCm39)	T113I	possibly damaging	Het
Mgrn1	A	T	16: 4,745,740 (GRCm39)	K423*	probably null	Het
Muc20	G	A	16: 32,615,266 (GRCm39)	T37I	possibly damaging	Het
Myh15	A	G	16: 48,959,044 (GRCm39)	E972G	probably damaging	Het
Myocd	T	A	11: 65,087,167 (GRCm39)	K253N	probably damaging	Het
Myod1	T	G	7: 46,026,575 (GRCm39)	L160R	probably damaging	Het
Nanog	T	C	6: 122,684,799 (GRCm39)	S20P	probably benign	Het
Nat8f2	A	T	6: 85,844,683 (GRCm39)	Y226*	probably null	Het
Nsmf	A	G	2: 24,949,077 (GRCm39)	K277R	probably null	Het
Nsrp1	C	T	11: 76,967,503 (GRCm39)	G30R	probably damaging	Het
Nsun6	C	A	2: 15,003,009 (GRCm39)	R389L	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or10g9	A	T	9: 39,912,172 (GRCm39)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,974,199 (GRCm39)	C140Y	probably benign	Het
Or51h1	A	G	7: 102,308,441 (GRCm39)	T138A	probably damaging	Het
Or5w20	G	A	2: 87,726,902 (GRCm39)	D120N	probably damaging	Het
Pgm1	T	C	4: 99,843,918 (GRCm39)	L567P	probably damaging	Het
Polrmt	G	T	10: 79,576,535 (GRCm39)	H474N	probably benign	Het
Ppfia2	A	G	10: 106,664,885 (GRCm39)	I374V	probably benign	Het
Pramel5	T	A	4: 143,999,545 (GRCm39)	I181F	probably benign	Het
Prpf4b	T	A	13: 35,083,870 (GRCm39)	Y880N	probably damaging	Het
Ptpn3	G	A	4: 57,249,957 (GRCm39)	Q180*	probably null	Het
Ptprc	T	C	1: 138,008,627 (GRCm39)	R687G	probably damaging	Het
Rnf148	T	A	6: 23,654,802 (GRCm39)	I65F	possibly damaging	Het
Rnf213	A	G	11: 119,331,831 (GRCm39)	I2348V		Het
Rttn	A	G	18: 89,035,334 (GRCm39)	N736S	possibly damaging	Het
Ryr3	A	C	2: 112,633,534 (GRCm39)	V2093G	probably damaging	Het
Selenof	T	A	3: 144,283,370 (GRCm39)	F33L	probably benign	Het
Sh2d3c	C	T	2: 32,635,889 (GRCm39)	R238*	probably null	Het
Slc23a4	T	C	6: 34,923,235 (GRCm39)	K543R	probably benign	Het
Smn1	A	T	13: 100,272,210 (GRCm39)	N278I	possibly damaging	Het
Sox7	G	A	14: 64,185,509 (GRCm39)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,817,120 (GRCm39)	Y304F	probably benign	Het
Sptlc2	A	T	12: 87,359,533 (GRCm39)	I501N	probably benign	Het
Srf	T	C	17: 46,866,271 (GRCm39)	T162A	probably benign	Het
Srm	C	T	4: 148,676,039 (GRCm39)		probably benign	Het
Stim1	CAGCGCCTGACGGAGC	CAGC	7: 102,080,118 (GRCm39)		probably benign	Het
Taar8a	T	C	10: 23,952,714 (GRCm39)	L106P	probably damaging	Het
Tcte1	A	G	17: 45,850,798 (GRCm39)	H358R	possibly damaging	Het
Tmem205	A	G	9: 21,837,587 (GRCm39)	S20P	probably damaging	Het
Trav16	T	A	14: 53,980,910 (GRCm39)	V33E	possibly damaging	Het
Trf	T	A	9: 103,103,217 (GRCm39)	I149F	probably damaging	Het
Trmt2a	C	T	16: 18,070,041 (GRCm39)	Q419*	probably null	Het
Ttc19	A	G	11: 62,203,997 (GRCm39)	I319M	probably benign	Het
Txndc16	T	C	14: 45,400,467 (GRCm39)	I345V	probably benign	Het
Ube3b	T	C	5: 114,553,370 (GRCm39)	I914T	probably benign	Het
Ubr3	T	C	2: 69,727,957 (GRCm39)	F107L	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,407 (GRCm39)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,363,753 (GRCm39)	M380K	possibly damaging	Het
Wdr7	T	A	18: 63,927,317 (GRCm39)	M989K	possibly damaging	Het
Zcchc3	A	G	2: 152,256,385 (GRCm39)	S105P	probably benign	Het
Zfp735	T	A	11: 73,601,806 (GRCm39)	V250E	possibly 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
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
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'- CGCTCCTGGAAGTATCTGTG -3'
(R):5'- CCAGCCTGGTCTACATAGTG -3'

Sequencing Primer
(F):5'- CCCTGGCTGAAGTAGGAGGTG -3'
(R):5'- GCCTGGTCTACATAGTGAAACTC -3'

Posted On

2022-10-06