Mutagenetix > Incidental Mutation

Incidental Mutation 'R6333:Rnasek'

513246

Institutional Source

Beutler Lab

Gene Symbol

Rnasek

Ensembl Gene

ENSMUSG00000093989

Gene Name

ribonuclease, RNase K

Synonyms

D11Bwg0434e, 2310033H11Rik

MMRRC Submission

044487-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6333 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

70128950-70130668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70129252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 67 (Y67C)

Ref Sequence

ENSEMBL: ENSMUSP00000135088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000021180] [ENSMUST00000021181] [ENSMUST00000040428] [ENSMUST00000100950] [ENSMUST00000176116] [ENSMUST00000141880] [ENSMUST00000108575] [ENSMUST00000108578] [ENSMUST00000102569] [ENSMUST00000108576] [ENSMUST00000108577] [ENSMUST00000125752] [ENSMUST00000108579] [ENSMUST00000176268]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000329

SMART Domains

Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320

Domain	Start	End	E-Value	Type
LH2	2	111	9.78e-40	SMART
Pfam:Lipoxygenase	172	650	5.1e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000021180

SMART Domains

Protein: ENSMUSP00000021180
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
Blast:SANT	38	69	1e-16	BLAST
SCOP:d1ba5__	41	59	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021181

SMART Domains

Protein: ENSMUSP00000021181
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
SANT	38	83	7.29e-1	SMART
low complexity region	106	129	N/A	INTRINSIC
low complexity region	135	150	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000040428
AA Change: Y67C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048271
Gene: ENSMUSG00000093989
AA Change: Y67C

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	65	87	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000093601

Predicted Effect

probably benign
Transcript: ENSMUST00000100950

SMART Domains

Protein: ENSMUSP00000098510
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
SANT	37	82	7.29e-1	SMART
low complexity region	105	128	N/A	INTRINSIC
low complexity region	134	149	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176116
AA Change: Y40C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135134
Gene: ENSMUSG00000040904
AA Change: Y40C

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000141880
AA Change: Y40C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135383
Gene: ENSMUSG00000093989
AA Change: Y40C

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148878

Predicted Effect

probably benign
Transcript: ENSMUST00000108575

SMART Domains

Protein: ENSMUSP00000104215
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	72	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134700

SMART Domains

Protein: ENSMUSP00000119483
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	43	66	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138658

Predicted Effect

probably benign
Transcript: ENSMUST00000108578

SMART Domains

Protein: ENSMUSP00000104219
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
SANT	38	83	7.29e-1	SMART
low complexity region	106	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135390

SMART Domains

Protein: ENSMUSP00000134994
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	29	52	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150504

Predicted Effect

probably benign
Transcript: ENSMUST00000102569

SMART Domains

Protein: ENSMUSP00000099629
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	72	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108576

SMART Domains

Protein: ENSMUSP00000104216
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
SANT	38	83	7.29e-1	SMART
low complexity region	106	129	N/A	INTRINSIC
low complexity region	169	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108577

SMART Domains

Protein: ENSMUSP00000104218
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	72	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125752

Predicted Effect

probably benign
Transcript: ENSMUST00000108579

SMART Domains

Protein: ENSMUSP00000104220
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	72	95	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176268
AA Change: Y67C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135088
Gene: ENSMUSG00000040904
AA Change: Y67C

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	65	87	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200557

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.9%
20x: 93.2%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	T	C	9: 15,203,372 (GRCm39)	K111R	probably benign	Het
Abhd18	A	G	3: 40,888,218 (GRCm39)	Y354C	probably benign	Het
Acap1	T	C	11: 69,774,427 (GRCm39)	I424V	possibly damaging	Het
AI182371	A	T	2: 34,975,281 (GRCm39)	I306K	probably damaging	Het
Asb4	G	A	6: 5,423,597 (GRCm39)	R248H	probably damaging	Het
Brd7	T	C	8: 89,071,819 (GRCm39)	T349A	probably damaging	Het
Bub1b	T	C	2: 118,428,944 (GRCm39)		probably null	Het
Cep85l	G	A	10: 53,225,197 (GRCm39)	Q131*	probably null	Het
Chmp2b	T	A	16: 65,337,136 (GRCm39)	M178L	possibly damaging	Het
Chrnb3	A	G	8: 27,883,355 (GRCm39)	N84D	probably damaging	Het
Clec4b2	A	T	6: 123,177,637 (GRCm39)		probably null	Het
Defa34	T	C	8: 22,155,862 (GRCm39)	V17A	probably benign	Het
Dnah3	A	T	7: 119,653,856 (GRCm39)	L947Q	probably damaging	Het
Dynlt2a1	G	A	17: 15,261,717 (GRCm39)		probably benign	Het
Ell	A	G	8: 71,044,188 (GRCm39)	Y578C	probably damaging	Het
Esp36	T	A	17: 38,728,135 (GRCm39)	M49L	probably benign	Het
Fbxw19	A	T	9: 109,323,751 (GRCm39)	W75R	probably benign	Het
Fcgr4	A	G	1: 170,856,838 (GRCm39)	Y235C	probably damaging	Het
Gm10110	A	C	14: 90,135,733 (GRCm39)		noncoding transcript	Het
Gm13030	A	T	4: 138,598,708 (GRCm39)		probably null	Het
Hdac9	T	C	12: 34,102,323 (GRCm39)	M1058V	probably damaging	Het
Hsd3b6	A	G	3: 98,713,540 (GRCm39)	F253S	probably damaging	Het
Hspg2	T	C	4: 137,289,266 (GRCm39)	Y3794H	probably damaging	Het
Mark4	G	A	7: 19,177,208 (GRCm39)	T207M	probably damaging	Het
Mme	A	G	3: 63,249,382 (GRCm39)	T304A	probably benign	Het
Neb	A	G	2: 52,148,275 (GRCm39)	L2657P	probably damaging	Het
Nufip1	A	C	14: 76,349,425 (GRCm39)	K152N	probably damaging	Het
Pcdh1	A	G	18: 38,331,860 (GRCm39)	V381A	probably benign	Het
Pdss1	A	G	2: 22,791,778 (GRCm39)	T30A	probably damaging	Het
Plrg1	A	G	3: 82,964,102 (GRCm39)	T12A	probably damaging	Het
Ppig	C	T	2: 69,579,902 (GRCm39)	H479Y	unknown	Het
Prokr2	A	G	2: 132,215,898 (GRCm39)	F188L	probably damaging	Het
Prss39	A	G	1: 34,539,150 (GRCm39)	N130S	probably benign	Het
Ptar1	G	A	19: 23,671,686 (GRCm39)	D30N	possibly damaging	Het
Rai14	G	T	15: 10,575,022 (GRCm39)	Y645*	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,354,192 (GRCm39)	V4023A	probably damaging	Het
Sash3	C	T	X: 47,248,398 (GRCm39)	L307F	probably damaging	Homo
Sctr	T	C	1: 119,984,182 (GRCm39)	F357L	probably damaging	Het
Sec14l5	G	A	16: 4,984,908 (GRCm39)	V85I	probably benign	Het
Shld2	G	A	14: 33,989,565 (GRCm39)	T447M	probably damaging	Het
Sirpd	T	C	3: 15,385,671 (GRCm39)	Y77C	probably damaging	Het
Spag8	T	C	4: 43,653,186 (GRCm39)		probably benign	Het
Tbc1d2	T	C	4: 46,620,736 (GRCm39)	D358G	possibly damaging	Het
Tenm4	A	G	7: 96,423,331 (GRCm39)	T672A	probably damaging	Het
Tent2	G	A	13: 93,322,821 (GRCm39)	Q43*	probably null	Het
Trmt1l	T	A	1: 151,329,685 (GRCm39)	S543T	probably benign	Het
Ube4b	A	G	4: 149,432,494 (GRCm39)	F810S	probably damaging	Het
Vmn2r104	C	T	17: 20,249,848 (GRCm39)	V808I	probably benign	Het
Zfp3	T	A	11: 70,662,266 (GRCm39)	I75N	probably benign	Het
Zwint	A	G	10: 72,490,784 (GRCm39)		probably benign	Het

Other mutations in Rnasek

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0243:Rnasek	UTSW	11	70,129,266 (GRCm39)	nonsense	probably null
R5229:Rnasek	UTSW	11	70,130,486 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGGGTCACAAGTCCCAAAG -3'
(R):5'- TAGTTTCAATCCCCAGCGCG -3'

Sequencing Primer
(F):5'- TCCCAAAGGACGCCAGATGAG -3'
(R):5'- AGCCCACCAGCTTAGATGTG -3'

Posted On

2018-04-27