Mutagenetix > Incidental Mutation

Incidental Mutation 'R8334:Rnh1'

644523

Institutional Source

Beutler Lab

Gene Symbol

Rnh1

Ensembl Gene

ENSMUSG00000038650

Gene Name

ribonuclease/angiogenin inhibitor 1

Synonyms

RNH

MMRRC Submission

067862-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8334 (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 140748544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 11 (V11A)

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

SMART Domains

Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650

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

SMART Domains

Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650

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: V11A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000210979

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,959,650 (GRCm39)	S696T	probably damaging	Het
Abhd12	T	C	2: 150,700,373 (GRCm39)	I75V	probably benign	Het
Adamts9	T	C	6: 92,914,225 (GRCm39)		probably null	Het
Ap2a1	C	T	7: 44,554,135 (GRCm39)	V499I	possibly damaging	Het
Arhgef16	T	A	4: 154,367,224 (GRCm39)	K394*	probably null	Het
Armc2	A	G	10: 41,799,761 (GRCm39)	F699S	probably damaging	Het
Atat1	C	T	17: 36,220,150 (GRCm39)		probably null	Het
Atm	A	G	9: 53,433,573 (GRCm39)	S226P	probably benign	Het
Bcas3	A	G	11: 85,467,637 (GRCm39)	T687A	possibly damaging	Het
Bmp2k	T	C	5: 97,175,753 (GRCm39)	M78T	possibly damaging	Het
Brinp3	T	A	1: 146,777,791 (GRCm39)	L746H	probably damaging	Het
Capn8	G	A	1: 182,438,670 (GRCm39)		probably null	Het
Ccdc154	T	A	17: 25,390,581 (GRCm39)	F602I	probably damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,241,622 (GRCm39)	F1504L	probably damaging	Het
Cpsf1	A	T	15: 76,487,787 (GRCm39)	N77K	probably benign	Het
Crybb3	T	A	5: 113,223,845 (GRCm39)	Q188L	possibly damaging	Het
Dnah8	T	A	17: 30,988,805 (GRCm39)	H3258Q	probably benign	Het
Dnajb6	C	T	5: 29,986,238 (GRCm39)	R269W	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Ech1	A	G	7: 28,531,248 (GRCm39)	I279V	probably benign	Het
Ehbp1	C	A	11: 21,957,170 (GRCm39)	R1173L	probably damaging	Het
Ehd4	T	C	2: 119,967,545 (GRCm39)	E83G	probably damaging	Het
Epha7	A	G	4: 28,938,777 (GRCm39)	E544G	probably benign	Het
Esp23	A	G	17: 39,384,795 (GRCm39)	V67A	possibly damaging	Het
Etl4	T	C	2: 20,785,857 (GRCm39)	V726A	probably damaging	Het
Fbxo39	G	A	11: 72,208,470 (GRCm39)	W274*	probably null	Het
Filip1l	T	C	16: 57,390,510 (GRCm39)	I366T	probably benign	Het
Gm4841	T	C	18: 60,404,054 (GRCm39)	D13G	probably benign	Het
Gtpbp2	T	A	17: 46,477,368 (GRCm39)	F411Y	possibly damaging	Het
Kmt5b	G	T	19: 3,864,795 (GRCm39)	V620L	probably benign	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Lsm1	A	G	8: 26,292,047 (GRCm39)	E108G	probably benign	Het
Macf1	T	C	4: 123,325,901 (GRCm39)	K5201E	possibly damaging	Het
Matcap2	A	G	9: 22,355,414 (GRCm39)	E483G	probably benign	Het
Mettl25b	C	T	3: 87,835,056 (GRCm39)	V31I	possibly damaging	Het
Mki67	G	T	7: 135,298,245 (GRCm39)	T2263K	probably damaging	Het
Mroh1	G	A	15: 76,330,756 (GRCm39)	G1156S	probably benign	Het
Ncor1	A	T	11: 62,274,070 (GRCm39)	M190K	probably damaging	Het
Nsmce3	A	G	7: 64,522,467 (GRCm39)	V67A	probably damaging	Het
Nuggc	T	C	14: 65,882,478 (GRCm39)	V741A	probably benign	Het
Olfm3	G	T	3: 114,916,206 (GRCm39)	L379F	probably damaging	Het
Or4x13	T	C	2: 90,231,277 (GRCm39)	S91P	probably benign	Het
Or8g21	T	A	9: 38,905,889 (GRCm39)	I281F	probably benign	Het
Pcdhb13	A	G	18: 37,577,853 (GRCm39)	T744A	probably damaging	Het
Plek	T	C	11: 16,933,220 (GRCm39)	T298A	probably benign	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pou6f2	C	T	13: 18,299,991 (GRCm39)	R556H	probably damaging	Het
Pramel58	T	G	5: 94,830,635 (GRCm39)	N44K	probably benign	Het
Rcor1	G	A	12: 111,059,529 (GRCm39)	A148T		Het
Slc35f1	T	C	10: 52,984,244 (GRCm39)	F335L	possibly damaging	Het
Srrm2	T	C	17: 24,027,330 (GRCm39)	V22A	unknown	Het
St7	A	T	6: 17,934,220 (GRCm39)	H534L	probably damaging	Het
Swi5	T	A	2: 32,170,463 (GRCm39)		probably benign	Het
Syf2	T	A	4: 134,658,586 (GRCm39)	H40Q	probably benign	Het
Tgtp2	G	A	11: 48,949,721 (GRCm39)	L284F	probably benign	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Trbc1	A	C	6: 41,516,046 (GRCm39)		probably benign	Het
Trim33	A	T	3: 103,261,145 (GRCm39)	T1115S	probably benign	Het
Ttc22	C	A	4: 106,496,115 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,638,374 (GRCm39)	A13969T	probably damaging	Het
Tuba4a	T	C	1: 75,193,945 (GRCm39)	D74G	probably benign	Het
Ube3c	T	A	5: 29,795,882 (GRCm39)	D90E	probably benign	Het
Ubr7	T	C	12: 102,724,397 (GRCm39)	V37A	probably damaging	Het
Vmn2r28	A	C	7: 5,487,059 (GRCm39)	C535G	probably damaging	Het
Wdr36	A	G	18: 32,992,346 (GRCm39)	T628A	possibly damaging	Het
Whrn	C	T	4: 63,413,047 (GRCm39)	V142M	probably damaging	Het
Wnk2	A	T	13: 49,203,958 (GRCm39)		probably null	Het
Xkr7	C	T	2: 152,896,883 (GRCm39)	T579I	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
R6752:Rnh1	UTSW	7	140,743,354 (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
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'- TTTGGGCCTTAAAGTGAGCGAG -3'
(R):5'- GGTCTCCAGTAGGCAAAGTG -3'

Sequencing Primer
(F):5'- ACGGAGCTATGAGGTCAGCC -3'
(R):5'- TCTCCAGTAGGCAAAGTGAAAGGC -3'

Posted On

2020-09-02