Mutagenetix > Incidental Mutation

Incidental Mutation 'R1928:Rnaseh1'

215085

Institutional Source

Beutler Lab

Gene Symbol

Rnaseh1

Ensembl Gene

ENSMUSG00000020630

Gene Name

ribonuclease H1

Synonyms

MMRRC Submission

039946-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28649602-28659589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28653089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 91 (S91P)

Ref Sequence

ENSEMBL: ENSMUSP00000152845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020959] [ENSMUST00000223322]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020959
AA Change: S91P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020959
Gene: ENSMUSG00000020630
AA Change: S91P

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
Pfam:Cauli_VI	27	70	4.4e-23	PFAM
low complexity region	98	114	N/A	INTRINSIC
Pfam:RNase_H	136	281	2.6e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222767

Predicted Effect

probably benign
Transcript: ENSMUST00000223322
AA Change: S91P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

98% (120/123)

MGI Phenotype

FUNCTION: This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and is necessary for DNA replication and repair. This enzyme is present in both mitochondria and nuclei, which are resulted from translation of a single mRNA with two in-frame initiation start codons. The use of the first start codon produces the mitochondrial isoform and the use of the second start codon produces the nuclear isoform. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF) which encodes 7aa in mouse. An alternately spliced transcript variant has been found which is a candidate for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality due to growth arrest around E8.5. Mutant embryos have decreased mtDNA content and abnormal mitochondria. Massive apoptosis is observed at E9.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	G	6: 132,626,601	Q64P	unknown	Het
Adgrv1	A	T	13: 81,520,786	F1830L	probably benign	Het
Anks3	C	T	16: 4,946,054		probably null	Het
Aqp12	G	A	1: 93,006,610	D70N	probably damaging	Het
B4galnt4	C	T	7: 141,068,148	R526*	probably null	Het
Best2	A	G	8: 85,011,253	F171S	probably benign	Het
C2cd5	A	T	6: 143,013,230	V965D	probably damaging	Het
Cd33	T	C	7: 43,529,879	E282G	probably benign	Het
Cep95	C	T	11: 106,790,728		probably benign	Het
Chd6	A	T	2: 160,968,000		probably benign	Het
Clec4d	A	T	6: 123,267,161		probably null	Het
Cntd1	C	T	11: 101,283,852	S128L	probably damaging	Het
Col19a1	T	C	1: 24,451,754		probably benign	Het
Ctrb1	C	A	8: 111,688,692	V117L	probably benign	Het
Dclk1	T	C	3: 55,247,521	V124A	possibly damaging	Het
Dcp2	T	C	18: 44,405,571		probably null	Het
Dctn1	C	A	6: 83,199,184		probably benign	Het
E330009J07Rik	A	G	6: 40,411,714	F238L	probably benign	Het
Ephb3	T	A	16: 21,222,295	M701K	possibly damaging	Het
Ero1lb	A	G	13: 12,601,759	E359G	probably damaging	Het
Exosc8	G	T	3: 54,728,845	A255E	probably damaging	Het
Fam155a	T	C	8: 9,770,217	T268A	probably benign	Het
Fam160a1	G	A	3: 85,688,531	P349L	probably damaging	Het
Fndc3c1	C	T	X: 106,433,522	A824T	probably benign	Het
Gja10	G	A	4: 32,601,812	Q191*	probably null	Het
Gm1587	C	T	14: 77,798,848	R6Q	unknown	Het
Gm3409	A	G	5: 146,539,608	I190V	probably benign	Het
Gm4952	G	T	19: 12,623,609	M64I	probably damaging	Het
Gramd1b	C	T	9: 40,306,469	M595I	possibly damaging	Het
Grik1	C	T	16: 88,051,353	V176M	probably damaging	Het
Grin2b	A	G	6: 136,044,046	C86R	probably damaging	Het
Gtse1	C	T	15: 85,862,063		probably benign	Het
Hectd2	T	C	19: 36,612,319	Y615H	probably damaging	Het
Hydin	T	C	8: 110,502,947	F1552S	possibly damaging	Het
Ifi207	A	G	1: 173,729,645	V516A	possibly damaging	Het
Igfbp5	G	T	1: 72,874,025	P39T	probably damaging	Het
Il23r	T	A	6: 67,423,735	D537V	possibly damaging	Het
Invs	A	G	4: 48,390,095	Y251C	probably damaging	Het
Isl1	G	T	13: 116,308,417	H25Q	probably damaging	Het
Kif13a	A	G	13: 46,812,745	L399P	probably damaging	Het
Klhl1	A	G	14: 96,346,789	V335A	probably benign	Het
Klhl14	C	A	18: 21,651,786	A195S	probably damaging	Het
Lepr	A	G	4: 101,782,730		probably benign	Het
Map1b	A	C	13: 99,430,946	S1756A	unknown	Het
Med23	C	T	10: 24,909,812	A877V	probably benign	Het
Mfsd4b2	T	C	10: 39,921,462	Y299C	probably damaging	Het
Mipol1	T	A	12: 57,332,419	M221K	probably damaging	Het
Muc4	A	T	16: 32,750,532	S137C	probably damaging	Het
Mutyh	T	C	4: 116,816,658	Y189H	probably damaging	Het
Nabp2	T	C	10: 128,409,313	T21A	possibly damaging	Het
Nell1	T	A	7: 50,701,195	V530E	possibly damaging	Het
Npc1	G	C	18: 12,213,378	P254A	possibly damaging	Het
Nup153	A	G	13: 46,701,026	V530A	probably damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr16	T	C	1: 172,957,314	V173A	probably damaging	Het
Olfr747	A	G	14: 50,681,415	V73A	probably benign	Het
Olfr873	T	C	9: 20,301,058	V287A	probably benign	Het
Pabpc1l	T	A	2: 164,032,254	I193N	possibly damaging	Het
Pabpc4l	A	G	3: 46,446,631	Y193H	probably damaging	Het
Pank1	T	C	19: 34,878,881	S66G	probably benign	Het
Pcdhb1	A	T	18: 37,266,180	K395*	probably null	Het
Pcna	A	G	2: 132,251,897		probably benign	Het
Pgr	T	A	9: 8,903,629	Y550*	probably null	Het
Phf11a	A	G	14: 59,281,867		probably benign	Het
Pkhd1	A	T	1: 20,081,300		probably benign	Het
Pofut2	T	A	10: 77,260,808	Y122*	probably null	Het
Pole	A	G	5: 110,327,778	M1818V	probably benign	Het
Rapgef3	A	G	15: 97,750,033	L696P	probably damaging	Het
Rasal3	T	C	17: 32,397,353	D310G	probably damaging	Het
Rhoq	A	G	17: 86,995,058	K141E	probably benign	Het
Rilpl1	A	G	5: 124,514,750		probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Saa1	C	A	7: 46,742,432	G31W	probably null	Het
Scaf8	A	G	17: 3,168,077	T241A	unknown	Het
Scarb2	C	T	5: 92,444,266	A473T	possibly damaging	Het
Scnn1b	T	C	7: 121,910,447	F273S	probably damaging	Het
Sdccag8	T	C	1: 176,828,970	V136A	probably damaging	Het
Sdr16c6	A	T	4: 4,069,926	V138E	probably damaging	Het
Sf3a3	G	A	4: 124,722,093	A180T	possibly damaging	Het
Slc16a5	T	A	11: 115,470,016	S342T	probably damaging	Het
Slc18a1	A	G	8: 69,073,812	S75P	probably benign	Het
Slc7a6	T	A	8: 106,193,488		probably benign	Het
Smco3	G	A	6: 136,831,847	Q10*	probably null	Het
Spem2	T	C	11: 69,817,464	Q225R	probably benign	Het
Ssb	G	T	2: 69,867,557		probably null	Het
Stx8	T	C	11: 68,109,280	I182T	probably damaging	Het
Synj2	T	A	17: 5,990,267	I121N	probably damaging	Het
Tbc1d1	T	C	5: 64,345,300	Y1055H	probably damaging	Het
Tex45	T	A	8: 3,486,947	I431K	possibly damaging	Het
Thbs3	G	T	3: 89,217,760	R52L	probably damaging	Het
Tmem101	C	T	11: 102,153,396	V222I	probably benign	Het
Tnks2	C	T	19: 36,845,668	Q112*	probably null	Het
Tnrc6b	T	A	15: 80,880,723	W809R	probably damaging	Het
Trib2	T	A	12: 15,815,453	R16S	probably damaging	Het
Trim12a	T	C	7: 104,307,124	N70D	probably damaging	Het
Trim55	T	A	3: 19,661,882		probably null	Het
Tspyl5	T	A	15: 33,687,007	D264V	probably damaging	Het
Ttn	A	G	2: 76,725,044	V30539A	probably damaging	Het
Tubgcp3	A	G	8: 12,663,988	F43S	possibly damaging	Het
Ube2cbp	A	G	9: 86,423,003	L262P	probably damaging	Het
Ugt1a7c	T	C	1: 88,095,929	V270A	probably benign	Het
Vav3	T	A	3: 109,506,422	F225L	possibly damaging	Het
Vmn1r21	G	T	6: 57,844,092	Y122*	probably null	Het
Vmn1r225	C	A	17: 20,502,809	Q171K	probably benign	Het
Vmn2r103	T	C	17: 19,811,767	V601A	possibly damaging	Het
Vmn2r19	T	A	6: 123,331,630	N555K	probably damaging	Het
Vps33a	G	A	5: 123,558,621	A323V	probably benign	Het
Wdr77	C	T	3: 105,967,302	P337S	probably benign	Het
Wnk1	A	T	6: 119,952,923	I93N	probably damaging	Het
Zbtb9	T	A	17: 26,974,638	I339N	probably damaging	Het
Zcchc6	A	G	13: 59,816,734	L209P	probably damaging	Het
Zfp202	T	A	9: 40,209,787	D241E	probably damaging	Het
Zfp235	T	A	7: 24,141,138	Y327*	probably null	Het
Zfp820	A	C	17: 21,819,335	D337E	probably benign	Het
Zfp944	T	C	17: 22,341,084	T14A	probably damaging	Het
Zfy1	A	G	Y: 729,733	V303A	unknown	Het
Zfyve26	C	T	12: 79,239,970	W2281*	probably null	Het

Other mutations in Rnaseh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Rnaseh1	APN	12	28659009	missense	probably damaging	1.00
IGL02243:Rnaseh1	APN	12	28655632	missense	probably damaging	1.00
IGL02347:Rnaseh1	APN	12	28657630	splice site	probably benign
IGL02478:Rnaseh1	APN	12	28655663	missense	probably damaging	1.00
R6723:Rnaseh1	UTSW	12	28649762	missense	probably damaging	1.00
R9035:Rnaseh1	UTSW	12	28658291	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTAGATTTTCTGGAGCTCCTGG -3'
(R):5'- TCTGAACCCAAGAAAGTTTCAGG -3'

Sequencing Primer
(F):5'- TGGAGCTCCTGGGGCAC -3'
(R):5'- AGGACAGTGGTAGCTTACTCC -3'

Posted On

2014-07-14