Mutagenetix > Incidental Mutation

Incidental Mutation 'R5540:Rnasel'

435855

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

043098-MU

Accession Numbers

Essential gene?

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

Stock #

R5540 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153625172-153639967 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 153630890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 469 (E469*)

Ref Sequence

ENSEMBL: ENSMUSP00000138752 (fasta)

Gene Model

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

AlphaFold

Q05921

Predicted Effect

probably null
Transcript: ENSMUST00000086209
AA Change: E469*

SMART Domains

Protein: ENSMUSP00000083385
Gene: ENSMUSG00000066800
AA Change: E469*

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 null
Transcript: ENSMUST00000182538

SMART Domains

Protein: ENSMUSP00000138734
Gene: ENSMUSG00000066800

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

Predicted Effect

probably null
Transcript: ENSMUST00000182722
AA Change: E469*

SMART Domains

Protein: ENSMUSP00000138247
Gene: ENSMUSG00000066800
AA Change: E469*

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 null
Transcript: ENSMUST00000183241
AA Change: E469*

SMART Domains

Protein: ENSMUSP00000138752
Gene: ENSMUSG00000066800
AA Change: E469*

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,012,371 (GRCm39)	S15P	probably damaging	Het
Actl7a	A	T	4: 56,744,388 (GRCm39)	H305L	probably benign	Het
Adam26b	C	A	8: 43,974,654 (GRCm39)	C116F	probably damaging	Het
Adgrl2	A	G	3: 148,543,198 (GRCm39)		probably null	Het
Akr1b10	A	G	6: 34,371,047 (GRCm39)	T238A	probably damaging	Het
Akr1c18	A	G	13: 4,187,178 (GRCm39)	V186A	probably benign	Het
Alpk3	G	A	7: 80,745,184 (GRCm39)	V1311M	probably damaging	Het
Aox1	A	G	1: 58,143,569 (GRCm39)	N1229S	probably benign	Het
Apobec3	T	A	15: 79,782,120 (GRCm39)	N43K	probably benign	Het
Arid1a	A	C	4: 133,407,765 (GRCm39)	D2247E	unknown	Het
Asph	A	G	4: 9,635,906 (GRCm39)	L77S	probably damaging	Het
Cd300ld	T	A	11: 114,878,231 (GRCm39)	T94S	probably damaging	Het
Celf2	T	C	2: 6,558,743 (GRCm39)	T382A	probably benign	Het
Cfap54	C	T	10: 92,808,470 (GRCm39)	A1402T	possibly damaging	Het
Chrnb1	A	T	11: 69,686,476 (GRCm39)	V48E	probably benign	Het
Col6a5	T	A	9: 105,739,975 (GRCm39)	E2548V	probably benign	Het
Crebrf	A	G	17: 26,961,071 (GRCm39)	D56G	possibly damaging	Het
Dctn5	A	G	7: 121,734,275 (GRCm39)	T40A	probably benign	Het
Dmxl2	A	T	9: 54,301,141 (GRCm39)	N2323K	probably benign	Het
Dync1h1	A	G	12: 110,627,384 (GRCm39)	Q4021R	probably benign	Het
Dyrk1a	T	G	16: 94,486,202 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,039,610 (GRCm39)	F454Y	probably damaging	Het
Fbxo38	A	G	18: 62,647,864 (GRCm39)		probably null	Het
Flg	T	C	3: 93,184,923 (GRCm39)	F15S	probably damaging	Het
Fndc3b	G	A	3: 27,555,651 (GRCm39)	P301L	probably damaging	Het
Fpr-rs7	C	T	17: 20,334,356 (GRCm39)	G45R	probably damaging	Het
Garin3	A	G	11: 46,295,715 (GRCm39)	N29S	probably damaging	Het
Gfi1	T	A	5: 107,867,991 (GRCm39)	T360S	probably damaging	Het
Grik4	T	C	9: 42,432,243 (GRCm39)	H918R	probably damaging	Het
Hpx	A	G	7: 105,241,119 (GRCm39)	S385P	possibly damaging	Het
Kdm5b	A	G	1: 134,558,979 (GRCm39)	D1501G	probably damaging	Het
Kif20b	A	T	19: 34,915,860 (GRCm39)	M546L	probably benign	Het
Map3k9	G	T	12: 81,819,587 (GRCm39)	N222K	probably damaging	Het
Me1	A	G	9: 86,561,926 (GRCm39)	L53P	possibly damaging	Het
Mis18bp1	T	C	12: 65,195,520 (GRCm39)	E748G	possibly damaging	Het
Morc3	T	A	16: 93,644,268 (GRCm39)	N186K	probably benign	Het
Mtor	A	G	4: 148,539,165 (GRCm39)	T221A	probably benign	Het
Muc6	A	G	7: 141,235,850 (GRCm39)		probably null	Het
Myh8	C	A	11: 67,177,266 (GRCm39)	T444N	probably benign	Het
Myo7b	A	G	18: 32,140,143 (GRCm39)	Y216H	probably damaging	Het
Myom1	G	A	17: 71,416,782 (GRCm39)	V1382M	probably damaging	Het
Nbeal2	A	T	9: 110,460,801 (GRCm39)	Y1718N	probably damaging	Het
Npc1l1	A	G	11: 6,164,546 (GRCm39)	S1168P	probably damaging	Het
Or4c58	A	G	2: 89,675,011 (GRCm39)	F102S	probably damaging	Het
Or4d2	T	A	11: 87,784,511 (GRCm39)	K80*	probably null	Het
Or51f5	C	T	7: 102,424,136 (GRCm39)	A135V	probably benign	Het
Or5an9	T	A	19: 12,187,824 (GRCm39)	I298N	probably damaging	Het
Or6c8b	G	T	10: 128,882,364 (GRCm39)	D189E	probably damaging	Het
Pcdha4	C	A	18: 37,087,890 (GRCm39)	A691E	probably benign	Het
Pde6a	T	G	18: 61,364,438 (GRCm39)	F165V	probably damaging	Het
Ptpn14	A	T	1: 189,578,561 (GRCm39)	M340L	probably benign	Het
Rsph3a	T	G	17: 8,164,790 (GRCm39)	L50R	probably benign	Het
Rusc2	A	G	4: 43,423,975 (GRCm39)	Y1043C	probably damaging	Het
Serpinb6b	A	T	13: 33,161,541 (GRCm39)	K86*	probably null	Het
Serpine1	T	C	5: 137,092,063 (GRCm39)	T392A	probably benign	Het
Shcbp1	A	T	8: 4,794,529 (GRCm39)	D421E	probably damaging	Het
Slc24a1	A	G	9: 64,855,863 (GRCm39)	V348A	unknown	Het
Slc26a7	A	G	4: 14,506,621 (GRCm39)	F605L	probably benign	Het
Slc66a1	A	T	4: 139,027,655 (GRCm39)	L229Q	probably damaging	Het
Spag17	A	C	3: 99,963,588 (GRCm39)	E1102A	possibly damaging	Het
Stab2	A	G	10: 86,683,989 (GRCm39)	V2390A	probably benign	Het
Stk11	A	G	10: 79,961,883 (GRCm39)	I35V	probably benign	Het
Stk24	T	C	14: 121,531,693 (GRCm39)	D321G	possibly damaging	Het
Tbx4	A	T	11: 85,801,994 (GRCm39)	N209I	possibly damaging	Het
Tmem225	T	C	9: 40,060,681 (GRCm39)	L80P	probably damaging	Het
Tnfrsf4	C	T	4: 156,098,380 (GRCm39)	T17I	probably benign	Het
Traf3ip1	G	A	1: 91,429,037 (GRCm39)	R268Q	probably benign	Het
Trhde	T	A	10: 114,636,497 (GRCm39)	I237F	probably benign	Het
Ugt2a1	A	T	5: 87,633,915 (GRCm39)	W231R	probably damaging	Het
Vash1	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	12: 86,726,831 (GRCm39)		probably benign	Het
Vps16	T	A	2: 130,284,305 (GRCm39)	D685E	probably benign	Het
Washc4	A	G	10: 83,409,657 (GRCm39)	D602G	probably damaging	Het
Wdr59	A	G	8: 112,211,816 (GRCm39)	L377P	possibly damaging	Het
Wdr81	T	C	11: 75,339,896 (GRCm39)	E1364G	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
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
R5013:Rnasel	UTSW	1	153,629,677 (GRCm39)	missense	probably damaging	0.99
R5015:Rnasel	UTSW	1	153,629,843 (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'- TAAGGAAGTCTCTTGTCTGCGG -3'
(R):5'- ATTTAGCCTGCAGAGGTGACC -3'

Sequencing Primer
(F):5'- CTCTTGTCTGCGGGACTGC -3'
(R):5'- AGAGGTGACCCCCTGCTAATC -3'

Posted On

2016-10-24