Mutagenetix > Incidental Mutation

Incidental Mutation 'R5013:Rnasel'

390603

Institutional Source

Beutler Lab

Gene Symbol

Rnasel

Ensembl Gene

ENSMUSG00000066800

Gene Name

ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent)

Synonyms

2-5A-dependent RNAase, E230029I04Rik

MMRRC Submission

042604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153625172-153639967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 153629677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 64 (H64Q)

Ref Sequence

ENSEMBL: ENSMUSP00000138752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086209] [ENSMUST00000182538] [ENSMUST00000182722] [ENSMUST00000183241]

AlphaFold

Q05921

Predicted Effect

probably damaging
Transcript: ENSMUST00000086209
AA Change: H64Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083385
Gene: ENSMUSG00000066800
AA Change: H64Q

Domain	Start	End	E-Value	Type
ANK	24	53	6.07e0	SMART
ANK	58	87	6.65e-6	SMART
ANK	91	120	2.73e-2	SMART
ANK	124	153	2.13e-4	SMART
ANK	167	197	6.36e-3	SMART
ANK	201	234	1.06e1	SMART
ANK	238	268	4.13e-2	SMART
ANK	272	301	7.3e-3	SMART
Pfam:Pkinase	365	521	4.9e-19	PFAM
Pfam:Pkinase_Tyr	365	523	6.1e-14	PFAM
Pfam:Kdo	451	546	8e-8	PFAM
PUG	656	707	2.33e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182131

Predicted Effect

probably benign
Transcript: ENSMUST00000182538

SMART Domains

Protein: ENSMUSP00000138734
Gene: ENSMUSG00000066800

Domain	Start	End	E-Value	Type
PUG	148	199	2.33e-15	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182722
AA Change: H64Q

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138247
Gene: ENSMUSG00000066800
AA Change: H64Q

Domain	Start	End	E-Value	Type
ANK	24	53	6.07e0	SMART
ANK	58	87	6.65e-6	SMART
ANK	91	120	2.73e-2	SMART
ANK	124	153	2.13e-4	SMART
ANK	167	197	6.36e-3	SMART
ANK	201	234	1.06e1	SMART
ANK	238	268	4.13e-2	SMART
ANK	272	301	7.3e-3	SMART
Pfam:Pkinase_Tyr	364	523	2.4e-13	PFAM
Pfam:Pkinase	365	520	2.1e-18	PFAM
Pfam:Kdo	452	546	9.3e-7	PFAM
Pfam:Ribonuc_2-5A	589	651	2.9e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183241
AA Change: H64Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138752
Gene: ENSMUSG00000066800
AA Change: H64Q

Domain	Start	End	E-Value	Type
ANK	24	53	6.07e0	SMART
ANK	58	87	6.65e-6	SMART
ANK	91	120	2.73e-2	SMART
ANK	124	153	2.13e-4	SMART
ANK	167	197	6.36e-3	SMART
ANK	201	234	1.06e1	SMART
ANK	238	268	4.13e-2	SMART
ANK	272	301	7.3e-3	SMART
Pfam:Pkinase_Tyr	364	523	2.6e-13	PFAM
Pfam:Pkinase	365	517	2.4e-18	PFAM
Pfam:Kdo	452	546	9.7e-7	PFAM
Pfam:Ribonuc_2-5A	589	674	1.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191474

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have an enlarged spleen and increased succeptibility to viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,926 (GRCm39)	L2117P	probably damaging	Het
Ago3	A	T	4: 126,262,391 (GRCm39)	S386R	probably benign	Het
Agxt	T	C	1: 93,069,779 (GRCm39)		probably benign	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Anxa1	A	G	19: 20,360,287 (GRCm39)	V108A	probably benign	Het
Aqp3	A	G	4: 41,093,819 (GRCm39)	F225L	probably damaging	Het
Atp11b	T	G	3: 35,888,532 (GRCm39)	I934R	possibly damaging	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Bcr	A	G	10: 74,960,898 (GRCm39)	D443G	probably benign	Het
Cbfa2t3	G	T	8: 123,365,598 (GRCm39)	D211E	possibly damaging	Het
Ccdc146	A	T	5: 21,538,036 (GRCm39)	L96Q	probably damaging	Het
Cdh16	A	G	8: 105,343,660 (GRCm39)	I612T	probably damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajc2	G	A	5: 21,962,771 (GRCm39)	R521*	probably null	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Eif1ad19	T	A	12: 87,740,512 (GRCm39)	K16*	probably null	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fbxw17	C	T	13: 50,586,506 (GRCm39)	R403C	probably benign	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Gatd1	G	T	7: 140,988,861 (GRCm39)		probably benign	Het
Gm10330	A	T	12: 23,829,961 (GRCm39)	Y73*	probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
Hdc	C	T	2: 126,446,220 (GRCm39)	E180K	probably benign	Het
Ilk	A	G	7: 105,391,456 (GRCm39)	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Klk1b4	A	G	7: 43,860,492 (GRCm39)	N170S	probably benign	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lamtor3	A	T	3: 137,630,909 (GRCm39)	R27S	probably damaging	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Morc1	A	G	16: 48,322,699 (GRCm39)	D332G	probably benign	Het
Myo15a	T	C	11: 60,382,493 (GRCm39)	I1523T	probably damaging	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nfix	A	G	8: 85,498,713 (GRCm39)	F87L	possibly damaging	Het
Nup155	C	A	15: 8,153,722 (GRCm39)	T421K	probably benign	Het
Or5ac25	A	T	16: 59,182,067 (GRCm39)	N171K	probably damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pds5a	A	C	5: 65,792,680 (GRCm39)	V751G	probably benign	Het
Podnl1	G	T	8: 84,852,965 (GRCm39)	C45F	probably damaging	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ptprk	T	A	10: 28,427,713 (GRCm39)	I764N	probably damaging	Het
Rbm33	A	T	5: 28,547,409 (GRCm39)	Q193L	probably benign	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Scamp3	A	G	3: 89,088,216 (GRCm39)		probably benign	Het
Sema6b	C	T	17: 56,439,497 (GRCm39)		probably null	Het
Six4	A	C	12: 73,150,400 (GRCm39)	I715R	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spdya	A	T	17: 71,869,499 (GRCm39)	Y98F	possibly damaging	Het
Tert	T	C	13: 73,794,428 (GRCm39)		probably null	Het
Tex22	G	A	12: 113,052,104 (GRCm39)	C54Y	probably damaging	Het
Tmem198b	C	T	10: 128,637,942 (GRCm39)	R207H	probably damaging	Het
Trbv13-1	C	T	6: 41,093,189 (GRCm39)	Q42*	probably null	Het
Trcg1	T	C	9: 57,149,562 (GRCm39)	L378P	probably damaging	Het
Trpv5	T	G	6: 41,636,647 (GRCm39)	D433A	probably damaging	Het
Ube3b	A	G	5: 114,545,702 (GRCm39)	N654D	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vwa7	A	T	17: 35,241,709 (GRCm39)	Y448F	probably damaging	Het
Zan	A	C	5: 137,382,099 (GRCm39)	D5149E	unknown	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zhx1	G	A	15: 57,917,538 (GRCm39)	T236I	possibly damaging	Het

Other mutations in Rnasel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Rnasel	APN	1	153,634,130 (GRCm39)	missense	probably benign	0.04
IGL02662:Rnasel	APN	1	153,629,857 (GRCm39)	missense	probably damaging	1.00
IGL03215:Rnasel	APN	1	153,634,301 (GRCm39)	missense	probably damaging	1.00
R0022:Rnasel	UTSW	1	153,636,521 (GRCm39)	missense	probably damaging	1.00
R0022:Rnasel	UTSW	1	153,636,521 (GRCm39)	missense	probably damaging	1.00
R0028:Rnasel	UTSW	1	153,630,465 (GRCm39)	missense	probably benign	0.04
R0116:Rnasel	UTSW	1	153,630,258 (GRCm39)	missense	probably damaging	1.00
R0981:Rnasel	UTSW	1	153,635,345 (GRCm39)	missense	probably benign	0.03
R1523:Rnasel	UTSW	1	153,631,759 (GRCm39)	missense	probably damaging	0.98
R1538:Rnasel	UTSW	1	153,636,540 (GRCm39)	missense	possibly damaging	0.62
R1646:Rnasel	UTSW	1	153,630,800 (GRCm39)	missense	probably damaging	1.00
R1793:Rnasel	UTSW	1	153,630,169 (GRCm39)	missense	probably damaging	0.98
R1843:Rnasel	UTSW	1	153,630,420 (GRCm39)	missense	possibly damaging	0.94
R2158:Rnasel	UTSW	1	153,630,647 (GRCm39)	missense	probably damaging	1.00
R2434:Rnasel	UTSW	1	153,630,396 (GRCm39)	missense	probably damaging	1.00
R2895:Rnasel	UTSW	1	153,636,522 (GRCm39)	missense	probably damaging	1.00
R4107:Rnasel	UTSW	1	153,630,542 (GRCm39)	missense	probably benign	0.00
R5015:Rnasel	UTSW	1	153,629,843 (GRCm39)	nonsense	probably null
R5540:Rnasel	UTSW	1	153,630,890 (GRCm39)	nonsense	probably null
R5688:Rnasel	UTSW	1	153,629,452 (GRCm39)	start gained	probably benign
R5955:Rnasel	UTSW	1	153,630,146 (GRCm39)	missense	probably benign	0.05
R6131:Rnasel	UTSW	1	153,630,206 (GRCm39)	missense	probably damaging	1.00
R6164:Rnasel	UTSW	1	153,630,138 (GRCm39)	missense	probably benign	0.32
R6395:Rnasel	UTSW	1	153,637,867 (GRCm39)	missense	probably damaging	0.99
R6483:Rnasel	UTSW	1	153,630,432 (GRCm39)	missense	probably benign	0.10
R7470:Rnasel	UTSW	1	153,629,777 (GRCm39)	missense	probably benign	0.00
R7538:Rnasel	UTSW	1	153,630,306 (GRCm39)	missense	probably benign	0.03
R8310:Rnasel	UTSW	1	153,630,734 (GRCm39)	missense	possibly damaging	0.87
R8804:Rnasel	UTSW	1	153,629,661 (GRCm39)	missense	probably damaging	1.00
R8813:Rnasel	UTSW	1	153,629,641 (GRCm39)	missense	probably damaging	1.00
R8947:Rnasel	UTSW	1	153,630,777 (GRCm39)	missense	probably damaging	1.00
R9239:Rnasel	UTSW	1	153,630,097 (GRCm39)	missense	probably damaging	1.00
R9552:Rnasel	UTSW	1	153,630,673 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CACGTGTGCATTTCCCAAGG -3'
(R):5'- ACACTCATTGACGTCTGCAC -3'

Sequencing Primer
(F):5'- CATTGAGGACCATGGAGACCC -3'
(R):5'- TTGACGTCTGCACCACAAGAGAG -3'

Posted On

2016-06-06