Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Skiv2l'

481346

Institutional Source

Beutler Lab

Gene Symbol

Skiv2l

Ensembl Gene

ENSMUSG00000040356

Gene Name

superkiller viralicidic activity 2-like (S. cerevisiae)

Synonyms

4930534J06Rik, Ski2w

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34839228-34850210 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34841463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 851 (N851K)

Ref Sequence

ENSEMBL: ENSMUSP00000036265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000046244] [ENSMUST00000077477] [ENSMUST00000159333] [ENSMUST00000161885] [ENSMUST00000172612] [ENSMUST00000173063] [ENSMUST00000180043] [ENSMUST00000174092] [ENSMUST00000173874] [ENSMUST00000173415] [ENSMUST00000173995] [ENSMUST00000173768]

AlphaFold

Q6NZR5

Predicted Effect

probably benign
Transcript: ENSMUST00000046022
AA Change: N851K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356
AA Change: N851K

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
low complexity region	171	176	N/A	INTRINSIC
low complexity region	208	237	N/A	INTRINSIC
low complexity region	269	279	N/A	INTRINSIC
DEXDc	304	487	3.61e-28	SMART
low complexity region	583	592	N/A	INTRINSIC
HELICc	619	705	8.63e-17	SMART
Pfam:rRNA_proc-arch	760	1044	9.7e-39	PFAM
DSHCT	1067	1243	7.67e-77	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046244

SMART Domains

Protein: ENSMUSP00000047018
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
low complexity region	168	184	N/A	INTRINSIC
Pfam:RAI1	235	303	2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077477

SMART Domains

Protein: ENSMUSP00000076686
Gene: ENSMUSG00000061207

Domain	Start	End	E-Value	Type
Pfam:Stk19	37	251	1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159333

SMART Domains

Protein: ENSMUSP00000125311
Gene: ENSMUSG00000061207

Domain	Start	End	E-Value	Type
Pfam:Stk19	1	129	3.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161238

Predicted Effect

probably benign
Transcript: ENSMUST00000161885

Predicted Effect

probably benign
Transcript: ENSMUST00000172612

SMART Domains

Protein: ENSMUSP00000133376
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	5	73	1.6e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172878

Predicted Effect

probably benign
Transcript: ENSMUST00000173063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174887

Predicted Effect

probably benign
Transcript: ENSMUST00000180043

SMART Domains

Protein: ENSMUSP00000137234
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
low complexity region	168	184	N/A	INTRINSIC
Pfam:RAI1	235	302	2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174569

SMART Domains

Protein: ENSMUSP00000133448
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	15	65	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174092

SMART Domains

Protein: ENSMUSP00000133587
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	110	151	5.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174684

SMART Domains

Protein: ENSMUSP00000134653
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
PDB:3FQJ\|A	2	48	1e-11	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000173874

SMART Domains

Protein: ENSMUSP00000134332
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
low complexity region	168	184	N/A	INTRINSIC
Pfam:RAI1	235	303	4.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173415

SMART Domains

Protein: ENSMUSP00000134209
Gene: ENSMUSG00000040356

Domain	Start	End	E-Value	Type
PDB:4A4Z\|A	10	81	8e-14	PDB
Blast:DEXDc	19	76	2e-29	BLAST
Blast:DEXDc	136	242	9e-28	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173995

SMART Domains

Protein: ENSMUSP00000134583
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
PDB:3FQJ\|A	1	144	5e-99	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173768

SMART Domains

Protein: ENSMUSP00000134052
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	1	33	5.6e-15	PFAM
low complexity region	54	64	N/A	INTRINSIC
low complexity region	73	88	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543		probably null	Het
Coq10b	T	C	1: 55,052,918	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393		probably null	Het
Dhx35	G	T	2: 158,842,869	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283		probably null	Het
Dst	T	A	1: 34,160,372		probably benign	Het
Ehbp1	C	A	11: 22,151,887	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923		probably null	Het
Gprin1	G	A	13: 54,739,978	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274		probably null	Het
Mroh7	T	C	4: 106,720,926	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250		probably null	Het
Muc2	G	A	7: 141,751,406	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840	H242R	probably damaging	Het
Olfr713	G	A	7: 107,036,336	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Ovch2	G	A	7: 107,794,388	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759		probably benign	Het
Rgl1	A	G	1: 152,557,493	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053	V154A	probably benign	Het
Smox	G	A	2: 131,516,414	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040		probably benign	Het
Zfp213	C	A	17: 23,557,911	E386*	probably null	Het

Other mutations in Skiv2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Skiv2l	APN	17	34839548	missense	probably damaging	1.00
IGL00338:Skiv2l	APN	17	34846667	missense	probably damaging	0.99
IGL01284:Skiv2l	APN	17	34839688	unclassified	probably benign
IGL01308:Skiv2l	APN	17	34840634	missense	probably benign	0.19
IGL01874:Skiv2l	APN	17	34841209	missense	probably benign
IGL02114:Skiv2l	APN	17	34841116	missense	probably damaging	0.97
IGL02208:Skiv2l	APN	17	34841675	missense	probably damaging	0.99
IGL02274:Skiv2l	APN	17	34845863	missense	probably damaging	1.00
IGL02729:Skiv2l	APN	17	34839605	missense	possibly damaging	0.63
IGL02839:Skiv2l	APN	17	34847798	missense	probably benign
R0325:Skiv2l	UTSW	17	34844815	missense	possibly damaging	0.50
R1102:Skiv2l	UTSW	17	34840106	missense	probably benign	0.28
R1294:Skiv2l	UTSW	17	34841064	splice site	probably null
R1513:Skiv2l	UTSW	17	34847444	missense	probably damaging	1.00
R1557:Skiv2l	UTSW	17	34848422	missense	probably damaging	1.00
R1747:Skiv2l	UTSW	17	34847806	missense	probably benign	0.02
R2401:Skiv2l	UTSW	17	34840385	missense	probably benign
R3162:Skiv2l	UTSW	17	34847813	nonsense	probably null
R3162:Skiv2l	UTSW	17	34847813	nonsense	probably null
R3695:Skiv2l	UTSW	17	34847912	missense	probably damaging	1.00
R3700:Skiv2l	UTSW	17	34849903	missense	probably benign
R4654:Skiv2l	UTSW	17	34849946	missense	probably damaging	1.00
R4736:Skiv2l	UTSW	17	34848197	missense	possibly damaging	0.91
R4835:Skiv2l	UTSW	17	34842921	missense	possibly damaging	0.66
R5014:Skiv2l	UTSW	17	34847425	missense	probably benign	0.00
R5181:Skiv2l	UTSW	17	34844826	missense	probably benign	0.44
R5223:Skiv2l	UTSW	17	34845166	critical splice donor site	probably null
R5417:Skiv2l	UTSW	17	34846598	missense	probably damaging	0.98
R5623:Skiv2l	UTSW	17	34847432	missense	probably benign	0.00
R5878:Skiv2l	UTSW	17	34846117	missense	possibly damaging	0.83
R6412:Skiv2l	UTSW	17	34840300	missense	possibly damaging	0.92
R6501:Skiv2l	UTSW	17	34844436	missense	possibly damaging	0.95
R6532:Skiv2l	UTSW	17	34844743	missense	probably damaging	1.00
R6730:Skiv2l	UTSW	17	34845190	nonsense	probably null
R6732:Skiv2l	UTSW	17	34845190	nonsense	probably null
R6741:Skiv2l	UTSW	17	34845190	nonsense	probably null
R6742:Skiv2l	UTSW	17	34845190	nonsense	probably null
R6769:Skiv2l	UTSW	17	34845190	nonsense	probably null
R6771:Skiv2l	UTSW	17	34845190	nonsense	probably null
R7022:Skiv2l	UTSW	17	34845207	missense	possibly damaging	0.88
R7096:Skiv2l	UTSW	17	34841470	missense	probably benign
R7178:Skiv2l	UTSW	17	34839464	missense	probably benign
R7315:Skiv2l	UTSW	17	34841169	missense	probably benign	0.00
R7584:Skiv2l	UTSW	17	34841675	missense	possibly damaging	0.69
R7677:Skiv2l	UTSW	17	34848164	missense	probably benign	0.03
R7796:Skiv2l	UTSW	17	34844418	missense	probably damaging	1.00
R8071:Skiv2l	UTSW	17	34849999	missense	probably benign	0.22
R8407:Skiv2l	UTSW	17	34841127	missense	probably benign	0.00
R8991:Skiv2l	UTSW	17	34840190	missense	probably damaging	1.00
R9016:Skiv2l	UTSW	17	34844664	missense	probably damaging	0.98
R9021:Skiv2l	UTSW	17	34846603	missense	probably damaging	1.00
R9196:Skiv2l	UTSW	17	34849901	missense	probably benign	0.00
R9243:Skiv2l	UTSW	17	34845222	missense	probably benign	0.33
R9322:Skiv2l	UTSW	17	34847463	critical splice acceptor site	probably null
R9475:Skiv2l	UTSW	17	34841102	missense	probably benign
R9564:Skiv2l	UTSW	17	34844782	missense	probably benign
R9565:Skiv2l	UTSW	17	34844782	missense	probably benign
Z1176:Skiv2l	UTSW	17	34841546	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCACGCCAAGCAATTAGAG -3'
(R):5'- GACCCAGAACATGATCCAGG -3'

Sequencing Primer
(F):5'- TTAGAGCAGCTTGAGGGCC -3'
(R):5'- CCCAGAACATGATCCAGGTGAGTG -3'

Posted On

2017-06-26