Mutagenetix > Incidental Mutation

Incidental Mutation 'R6752:Rnh1'

530831

Institutional Source

Beutler Lab

Gene Symbol

Rnh1

Ensembl Gene

ENSMUSG00000038650

Gene Name

ribonuclease/angiogenin inhibitor 1

Synonyms

RNH

MMRRC Submission

044869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140740239-140752764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140743354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 207 (V207A)

Ref Sequence

ENSEMBL: ENSMUSP00000147928 (fasta)

Gene Model

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

AlphaFold

Q91VI7

Predicted Effect

probably benign
Transcript: ENSMUST00000106033
AA Change: V171A

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

SMART Domains

Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650
AA Change: V171A

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: ENSMUST00000167493
AA Change: V171A

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

SMART Domains

Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650
AA Change: V171A

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
AA Change: V171A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210314
AA Change: V207A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210979

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (55/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,086,309 (GRCm39)	L45S	probably benign	Het
Agbl2	G	A	2: 90,633,418 (GRCm39)	C518Y	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aox1	T	C	1: 58,086,398 (GRCm39)	I101T	probably benign	Het
Arhgap23	T	C	11: 97,343,074 (GRCm39)	F241S	probably damaging	Het
Asmt	A	G	X: 169,110,096 (GRCm39)	M202V	probably benign	Het
Atp6v0a2	A	G	5: 124,779,452 (GRCm39)	E189G	probably damaging	Het
Birc2	G	A	9: 7,857,345 (GRCm39)	A376V	probably benign	Het
Ccbe1	C	T	18: 66,209,378 (GRCm39)		probably null	Het
Chst2	C	A	9: 95,286,802 (GRCm39)	E515*	probably null	Het
Col12a1	A	T	9: 79,540,706 (GRCm39)	N2426K	possibly damaging	Het
Dmrt2	A	G	19: 25,655,706 (GRCm39)	N435S	probably damaging	Het
Dnah14	A	G	1: 181,421,017 (GRCm39)	K123E	probably benign	Het
Dock4	T	A	12: 40,870,616 (GRCm39)	L1452Q	probably damaging	Het
Galnt7	G	A	8: 58,105,985 (GRCm39)	R10C	probably damaging	Het
Gm16506	A	G	14: 43,964,876 (GRCm39)	I22T	unknown	Het
H2-Q6	A	G	17: 35,647,103 (GRCm39)	T292A	probably damaging	Het
Ifne	A	G	4: 88,798,319 (GRCm39)	M33T	probably benign	Het
Igf2r	G	A	17: 12,933,831 (GRCm39)	R808W	probably damaging	Het
Igfbp5	T	C	1: 72,903,068 (GRCm39)	E169G	probably damaging	Het
Inppl1	G	A	7: 101,481,749 (GRCm39)	R198*	probably null	Het
Irgm1	T	C	11: 48,757,290 (GRCm39)	T174A	probably damaging	Het
Itih3	C	T	14: 30,645,446 (GRCm39)	G21S	possibly damaging	Het
Klra4	G	T	6: 130,038,991 (GRCm39)	Q134K	probably benign	Het
Mfsd1	T	A	3: 67,503,936 (GRCm39)	Y309*	probably null	Het
Mrps10	A	G	17: 47,688,740 (GRCm39)	N162S	probably damaging	Het
Mtmr14	T	C	6: 113,217,358 (GRCm39)	F90S	probably damaging	Het
Myh15	A	G	16: 49,003,290 (GRCm39)	D1783G	probably damaging	Het
Myo3b	A	G	2: 70,119,856 (GRCm39)	E972G	probably damaging	Het
Myt1	G	T	2: 181,442,875 (GRCm39)	V455F	probably damaging	Het
Nbea	A	T	3: 55,944,640 (GRCm39)	S575T	probably benign	Het
Nbea	T	A	3: 55,875,730 (GRCm39)	T1647S	probably benign	Het
Ntn4	A	G	10: 93,570,037 (GRCm39)	N466S	probably benign	Het
Or10ag52	A	G	2: 87,043,388 (GRCm39)	M51V	probably benign	Het
Or5b114-ps1	T	A	19: 13,352,890 (GRCm39)	L188H	unknown	Het
Or5h27	T	A	16: 59,006,694 (GRCm39)	N51Y	probably damaging	Het
Pcdhgb4	T	A	18: 37,853,704 (GRCm39)	I33N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pom121l2	T	G	13: 22,165,939 (GRCm39)	F70C	probably damaging	Het
Psmb5	T	C	14: 54,854,212 (GRCm39)	T89A	probably benign	Het
Rab11fip2	T	C	19: 59,895,475 (GRCm39)	D471G	probably damaging	Het
Sh3tc2	C	A	18: 62,094,108 (GRCm39)	T49N	probably benign	Het
Skint4	T	C	4: 111,977,060 (GRCm39)	M158T	possibly damaging	Het
Skint7	T	A	4: 111,837,463 (GRCm39)	H80Q	probably benign	Het
Smg1	A	G	7: 117,762,539 (GRCm39)		probably benign	Het
Sostdc1	T	C	12: 36,364,411 (GRCm39)	V40A	probably benign	Het
Sptlc1	C	A	13: 53,489,394 (GRCm39)	K437N	possibly damaging	Het
Stat2	T	C	10: 128,119,622 (GRCm39)	F503L	probably damaging	Het
Syt16	A	T	12: 74,275,987 (GRCm39)		probably null	Het
Tspyl1	T	C	10: 34,158,583 (GRCm39)	S103P	probably benign	Het
Ube4a	A	T	9: 44,837,246 (GRCm39)	S1053R	probably damaging	Het
Vipr1	A	G	9: 121,482,959 (GRCm39)	N58S	probably damaging	Het
Zfp184	C	A	13: 22,143,578 (GRCm39)	A428E	probably damaging	Het
Zfp292	A	C	4: 34,808,593 (GRCm39)	F1484V	possibly damaging	Het
Zfp599	G	A	9: 22,160,840 (GRCm39)	H442Y	probably damaging	Het
Zfp944	G	A	17: 22,558,500 (GRCm39)	T249I	probably benign	Het
Zkscan14	T	A	5: 145,132,316 (GRCm39)	H405L	probably damaging	Het

Other mutations in Rnh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Rnh1	APN	7	140,746,644 (GRCm39)	missense	possibly damaging	0.49
IGL01016:Rnh1	APN	7	140,744,409 (GRCm39)	splice site	probably benign
IGL03156:Rnh1	APN	7	140,743,096 (GRCm39)	missense	probably damaging	1.00
R0063:Rnh1	UTSW	7	140,744,109 (GRCm39)	splice site	probably null
R0456:Rnh1	UTSW	7	140,742,461 (GRCm39)	missense	possibly damaging	0.90
R1086:Rnh1	UTSW	7	140,743,282 (GRCm39)	missense	probably benign
R1223:Rnh1	UTSW	7	140,743,120 (GRCm39)	missense	probably damaging	1.00
R1741:Rnh1	UTSW	7	140,743,936 (GRCm39)	missense	probably benign	0.00
R1771:Rnh1	UTSW	7	140,744,519 (GRCm39)	missense	possibly damaging	0.55
R4508:Rnh1	UTSW	7	140,744,456 (GRCm39)	missense	possibly damaging	0.90
R5348:Rnh1	UTSW	7	140,743,321 (GRCm39)	missense	probably damaging	0.99
R5581:Rnh1	UTSW	7	140,743,294 (GRCm39)	missense	probably benign	0.00
R6932:Rnh1	UTSW	7	140,743,096 (GRCm39)	missense	probably damaging	1.00
R7536:Rnh1	UTSW	7	140,740,725 (GRCm39)	missense	possibly damaging	0.92
R8152:Rnh1	UTSW	7	140,740,617 (GRCm39)	missense	probably damaging	1.00
R8334:Rnh1	UTSW	7	140,748,544 (GRCm39)	missense	probably benign	0.01
R8791:Rnh1	UTSW	7	140,742,346 (GRCm39)	missense	probably benign	0.40
R9018:Rnh1	UTSW	7	140,748,544 (GRCm39)	missense	probably benign	0.01
R9248:Rnh1	UTSW	7	140,740,714 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATACCACAGTTCTCCAGCCTG -3'
(R):5'- CAGCTCTAGGTATTCACTGTGCC -3'

Sequencing Primer
(F):5'- TCCAGCCTGGAGACATAGGATAC -3'
(R):5'- GGTATTCACTGTGCCTGAATAACCAG -3'

Posted On

2018-08-01