Mutagenetix > Incidental Mutation

Incidental Mutation 'R1523:Rnasel'

167597

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R1523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153625172-153639967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 153631759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 513 (Q513K)

Ref Sequence

ENSEMBL: ENSMUSP00000138752 (fasta)

Gene Model

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

AlphaFold

Q05921

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086209
AA Change: Q513K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083385
Gene: ENSMUSG00000066800
AA Change: Q513K

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
AA Change: Q5K

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138734
Gene: ENSMUSG00000066800
AA Change: Q5K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182722
AA Change: Q513K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138247
Gene: ENSMUSG00000066800
AA Change: Q513K

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: Q513K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138752
Gene: ENSMUSG00000066800
AA Change: Q513K

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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,331,232 (GRCm39)	E48*	probably null	Het
4930503B20Rik	A	G	3: 146,356,864 (GRCm39)	S15P	probably damaging	Het
5530400C23Rik	A	G	6: 133,271,256 (GRCm39)	E100G	possibly damaging	Het
Abcg2	T	C	6: 58,662,679 (GRCm39)	F507S	possibly damaging	Het
Adgrf5	A	T	17: 43,761,044 (GRCm39)	Q913L	probably benign	Het
Ak7	A	T	12: 105,732,867 (GRCm39)	N537I	probably benign	Het
Anks1	T	A	17: 28,270,629 (GRCm39)		probably null	Het
Arhgap32	T	A	9: 32,168,048 (GRCm39)	V677D	probably damaging	Het
Ark2c	G	A	18: 77,550,634 (GRCm39)	T98I	probably benign	Het
Arnt	C	T	3: 95,396,965 (GRCm39)	P466L	possibly damaging	Het
Arrb1	T	G	7: 99,243,872 (GRCm39)	L274R	probably damaging	Het
Atf2	A	T	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Baz2b	C	T	2: 59,798,981 (GRCm39)	R381Q	possibly damaging	Het
Cacna1g	C	T	11: 94,333,555 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,064,501 (GRCm39)	R343Q	probably damaging	Het
Clca3a2	G	T	3: 144,777,405 (GRCm39)	S822*	probably null	Het
Col12a1	A	T	9: 79,568,278 (GRCm39)	Y1649N	probably benign	Het
Col23a1	G	A	11: 51,452,743 (GRCm39)		probably null	Het
Cp	T	C	3: 20,043,229 (GRCm39)	Y1006H	probably benign	Het
Ctbs	A	G	3: 146,160,735 (GRCm39)	T101A	probably benign	Het
Cyp4a31	T	C	4: 115,426,951 (GRCm39)	F170L	probably benign	Het
Dock1	A	C	7: 134,345,976 (GRCm39)	I173L	possibly damaging	Het
Dock4	A	G	12: 40,743,024 (GRCm39)	D393G	possibly damaging	Het
Dsg1a	T	A	18: 20,455,374 (GRCm39)	S113T	probably damaging	Het
Epha3	T	C	16: 63,431,311 (GRCm39)	D530G	probably damaging	Het
Erbb4	T	A	1: 68,435,411 (GRCm39)	H162L	possibly damaging	Het
Fam131c	C	T	4: 141,110,142 (GRCm39)	T180I	probably benign	Het
Fndc1	A	G	17: 7,992,041 (GRCm39)	S552P	unknown	Het
Foxf1	A	G	8: 121,811,297 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,828 (GRCm39)	T560A	possibly damaging	Het
Gabra4	G	A	5: 71,790,975 (GRCm39)	T289M	probably damaging	Het
Gcnt1	A	G	19: 17,307,197 (GRCm39)	V176A	probably damaging	Het
Gemin8	G	A	X: 164,963,644 (GRCm39)	S100N	probably benign	Het
Gm1527	T	C	3: 28,974,567 (GRCm39)	I460T	probably damaging	Het
Gm6729	A	G	10: 86,376,039 (GRCm39)		noncoding transcript	Het
Gprin2	T	C	14: 33,917,036 (GRCm39)	S245G	probably benign	Het
Gsdmc	A	T	15: 63,675,479 (GRCm39)	I112N	probably damaging	Het
Hspb6	A	G	7: 30,252,848 (GRCm39)	D30G	probably benign	Het
Hydin	A	G	8: 111,259,903 (GRCm39)	D2625G	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Irf2	T	A	8: 47,290,875 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,926,226 (GRCm39)		probably null	Het
Khdc3	G	A	9: 73,010,773 (GRCm39)	E208K	possibly damaging	Het
Kifc1	A	T	17: 34,102,636 (GRCm39)	S263T	probably benign	Het
Lrig3	C	A	10: 125,844,567 (GRCm39)	T677K	probably damaging	Het
Magec2	T	A	X: 61,334,512 (GRCm39)	D177E	probably benign	Het
Mapkapk3	A	T	9: 107,140,822 (GRCm39)		probably null	Het
Mertk	T	C	2: 128,632,248 (GRCm39)		probably null	Het
Metrn	A	G	17: 26,013,951 (GRCm39)	*292R	probably null	Het
Mllt6	G	T	11: 97,555,849 (GRCm39)	A60S	probably damaging	Het
Mmp21	T	C	7: 133,280,774 (GRCm39)	I65M	probably benign	Het
Myo7b	A	G	18: 32,099,929 (GRCm39)	L1651P	probably damaging	Het
Nhsl1	A	G	10: 18,284,103 (GRCm39)	S15G	probably benign	Het
Nos1ap	T	C	1: 170,165,687 (GRCm39)	D192G	probably benign	Het
Nrcam	A	G	12: 44,619,032 (GRCm39)	T844A	probably damaging	Het
Pax4	A	G	6: 28,444,840 (GRCm39)	L203P	probably damaging	Het
Pbld2	T	C	10: 62,912,212 (GRCm39)	I280T	probably benign	Het
Pclo	A	G	5: 14,838,420 (GRCm39)	Y4681C	unknown	Het
Phyhip	T	A	14: 70,699,200 (GRCm39)	M1K	probably null	Het
Plppr4	T	C	3: 117,116,490 (GRCm39)	N456D	probably damaging	Het
Prpf31	T	C	7: 3,643,856 (GRCm39)	Y473H	probably damaging	Het
Rapgef2	A	T	3: 79,000,056 (GRCm39)	V564D	probably damaging	Het
Rexo1	T	C	10: 80,378,585 (GRCm39)	S1123G	probably benign	Het
Rnf213	T	C	11: 119,332,714 (GRCm39)	V2641A	probably damaging	Het
Rnf40	G	T	7: 127,189,787 (GRCm39)	R184L	probably damaging	Het
Rnf8	A	G	17: 29,845,946 (GRCm39)	K179R	probably damaging	Het
Sipa1l2	C	T	8: 126,174,352 (GRCm39)	D1309N	possibly damaging	Het
Slc25a38	T	A	9: 119,952,769 (GRCm39)	M307K	possibly damaging	Het
Snx33	T	C	9: 56,833,466 (GRCm39)	D201G	possibly damaging	Het
Sulf1	T	A	1: 12,887,574 (GRCm39)	Y249*	probably null	Het
Sult2a4	G	A	7: 13,643,785 (GRCm39)	Q261*	probably null	Het
Syndig1	G	A	2: 149,845,154 (GRCm39)	A226T	probably damaging	Het
Tcaf2	C	T	6: 42,601,385 (GRCm39)	W891*	probably null	Het
Tcf15	C	A	2: 151,985,808 (GRCm39)	T88K	probably damaging	Het
Tmem19	A	T	10: 115,183,122 (GRCm39)	M117K	probably damaging	Het
Trim32	T	C	4: 65,532,241 (GRCm39)	L266P	probably benign	Het
Vmn2r11	T	C	5: 109,201,707 (GRCm39)	I266V	probably benign	Het
Vmn2r73	A	T	7: 85,519,486 (GRCm39)	Y491N	probably benign	Het
Wrn	C	T	8: 33,782,744 (GRCm39)	E486K	probably benign	Het
Zfp457	T	C	13: 67,441,501 (GRCm39)	E262G	probably damaging	Het
Zfp598	A	G	17: 24,897,603 (GRCm39)	D308G	probably null	Het
Zup1	T	C	10: 33,803,436 (GRCm39)	I549M	probably 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
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
R5013:Rnasel	UTSW	1	153,629,677 (GRCm39)	missense	probably damaging	0.99
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'- TGTCCTGCCCTTGATAGATGCCTAC -3'
(R):5'- AGTGAAAGGTGACTCCACACCAGC -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- GACAGATGGAAATGCCATTGTCTAC -3'

Posted On

2014-04-13