Mutagenetix > Incidental Mutation

Incidental Mutation 'R8791:Rnh1'

670945

Institutional Source

Beutler Lab

Gene Symbol

Rnh1

Ensembl Gene

ENSMUSG00000038650

Gene Name

ribonuclease/angiogenin inhibitor 1

Synonyms

RNH

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R8791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141160326-141172857 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141162433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 404 (R404H)

Ref Sequence

ENSEMBL: ENSMUSP00000147928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026568] [ENSMUST00000106033] [ENSMUST00000167493] [ENSMUST00000209378] [ENSMUST00000210314] [ENSMUST00000210979]

AlphaFold

Q91VI7

Predicted Effect

probably benign
Transcript: ENSMUST00000026568

SMART Domains

Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
transmembrane domain	73	90	N/A	INTRINSIC
Pfam:PSS	98	378	1.8e-113	PFAM
transmembrane domain	388	410	N/A	INTRINSIC
low complexity region	438	459	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106033
AA Change: R368H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650
AA Change: R368H

Domain	Start	End	E-Value	Type
Blast:LRR	22	49	3e-7	BLAST
LRR	50	77	2.95e-3	SMART
LRR	79	106	1.95e-3	SMART
LRR_RI	107	134	1.36e-7	SMART
LRR	136	163	7.15e-2	SMART
LRR	164	191	2.65e-5	SMART
LRR	193	220	4.24e-1	SMART
LRR	221	248	4.94e-5	SMART
LRR	250	277	2.34e-6	SMART
LRR	278	305	1.15e-5	SMART
LRR	307	334	8e0	SMART
LRR	335	362	4.75e-7	SMART
LRR	364	391	1.12e-3	SMART
LRR	392	419	6.17e-6	SMART
low complexity region	437	449	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167493
AA Change: R368H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650
AA Change: R368H

Domain	Start	End	E-Value	Type
Blast:LRR	22	49	3e-7	BLAST
LRR	50	77	2.95e-3	SMART
LRR	79	106	1.95e-3	SMART
LRR_RI	107	134	1.36e-7	SMART
LRR	136	163	7.15e-2	SMART
LRR	164	191	2.65e-5	SMART
LRR	193	220	4.24e-1	SMART
LRR	221	248	4.94e-5	SMART
LRR	250	277	2.34e-6	SMART
LRR	278	305	1.15e-5	SMART
LRR	307	334	8e0	SMART
LRR	335	362	4.75e-7	SMART
LRR	364	391	1.12e-3	SMART
LRR	392	419	6.17e-6	SMART
low complexity region	437	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209378

Predicted Effect

probably benign
Transcript: ENSMUST00000210314
AA Change: R404H

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000210979

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,187,260	Y654C	probably damaging	Het
4931422A03Rik	G	T	2: 103,992,677	T87K	possibly damaging	Het
Adar	G	A	3: 89,736,138	R442Q	probably benign	Het
Agtr1b	T	A	3: 20,316,116	S109C	probably damaging	Het
Akr1c6	T	A	13: 4,449,374	Y248N	probably benign	Het
Alpk2	A	T	18: 65,305,526	V932E	probably benign	Het
Apba3	T	A	10: 81,269,270	S126T	probably benign	Het
Brca2	T	A	5: 150,542,596	S1942T	possibly damaging	Het
Ccdc149	C	T	5: 52,439,210	C20Y	probably damaging	Het
Cd63	C	A	10: 128,912,202	N156K	probably benign	Het
Clvs1	A	G	4: 9,429,807	E270G	probably damaging	Het
Dgki	A	T	6: 37,019,940	D574E	probably damaging	Het
Esrrb	A	G	12: 86,470,282	S63G	probably damaging	Het
Exoc1	C	T	5: 76,535,565	R46C	probably damaging	Het
Fcgr4	C	A	1: 171,019,908	A25D	probably damaging	Het
Fgf4	T	C	7: 144,861,671	V56A	probably benign	Het
Gfpt2	A	G	11: 49,823,216	I267V	probably benign	Het
Gm20939	A	C	17: 94,877,220	H432P	probably damaging	Het
Gpr179	A	T	11: 97,351,913	L35Q	probably damaging	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ildr1	T	C	16: 36,708,400	I69T	probably damaging	Het
Lrfn1	A	G	7: 28,459,919	D421G	probably benign	Het
Mmp15	C	T	8: 95,369,660	Q360*	probably null	Het
Nfatc2	T	C	2: 168,536,294	K484E	probably damaging	Het
Nkpd1	G	C	7: 19,524,170	V625L	probably benign	Het
Nlrp4a	C	A	7: 26,444,136		probably benign	Het
Nme9	T	A	9: 99,468,248	I178N	probably damaging	Het
Nrp2	C	T	1: 62,749,197	T352I	probably damaging	Het
Ntrk1	T	C	3: 87,779,683	I723V	probably damaging	Het
Olfr469	C	T	7: 107,823,350	V40M	possibly damaging	Het
Pias3	C	A	3: 96,704,885	Q553K	probably benign	Het
Pnp2	T	G	14: 50,963,416	H119Q	probably benign	Het
Rapgef6	T	A	11: 54,568,469	D156E	probably benign	Het
Rint1	T	C	5: 23,800,596	V92A	probably damaging	Het
Rnf148	A	T	6: 23,654,994	M1K	probably null	Het
Slc4a8	T	C	15: 100,807,253	V832A	possibly damaging	Het
Snx31	A	T	15: 36,537,532	C167S	probably benign	Het
Spata13	C	T	14: 60,691,826	R278C	probably damaging	Het
Spg20	A	G	3: 55,121,679	D297G	probably benign	Het
Tmc1	T	C	19: 20,789,845	T716A	probably benign	Het
Tpi1	A	G	6: 124,812,520	V164A	probably damaging	Het
Trim17	A	G	11: 58,971,176	S345G	probably benign	Het
Vmn1r199	T	A	13: 22,383,517	L327Q	probably damaging	Het
Washc4	C	T	10: 83,550,884	T124I	probably benign	Het
Wdr76	C	T	2: 121,527,003	T180I	probably benign	Het
Zcchc8	T	C	5: 123,707,299	N333D	probably benign	Het
Zfp516	T	C	18: 82,957,335	S553P	probably damaging	Het

Other mutations in Rnh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Rnh1	APN	7	141166731	missense	possibly damaging	0.49
IGL01016:Rnh1	APN	7	141164496	splice site	probably benign
IGL03156:Rnh1	APN	7	141163183	missense	probably damaging	1.00
R0063:Rnh1	UTSW	7	141164196	splice site	probably null
R0456:Rnh1	UTSW	7	141162548	missense	possibly damaging	0.90
R1086:Rnh1	UTSW	7	141163369	missense	probably benign
R1223:Rnh1	UTSW	7	141163207	missense	probably damaging	1.00
R1741:Rnh1	UTSW	7	141164023	missense	probably benign	0.00
R1771:Rnh1	UTSW	7	141164606	missense	possibly damaging	0.55
R4508:Rnh1	UTSW	7	141164543	missense	possibly damaging	0.90
R5348:Rnh1	UTSW	7	141163408	missense	probably damaging	0.99
R5581:Rnh1	UTSW	7	141163381	missense	probably benign	0.00
R6752:Rnh1	UTSW	7	141163441	missense	probably benign	0.00
R6932:Rnh1	UTSW	7	141163183	missense	probably damaging	1.00
R7536:Rnh1	UTSW	7	141160812	missense	possibly damaging	0.92
R8152:Rnh1	UTSW	7	141160704	missense	probably damaging	1.00
R8334:Rnh1	UTSW	7	141168631	missense	probably benign	0.01
R9018:Rnh1	UTSW	7	141168631	missense	probably benign	0.01
R9248:Rnh1	UTSW	7	141160801	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCTACATCTAGCTCACTGACCAGG -3'
(R):5'- GAAGGGCTCCTTGGAAGAACTG -3'

Sequencing Primer
(F):5'- CTGACCAGGATACACAAGAGTACTG -3'
(R):5'- GGAAGAACTGGTTCCAGCCTTTC -3'

Posted On

2021-04-30