Mutagenetix > Incidental Mutation

Incidental Mutation 'R1513:Skiv2l'

168578

Institutional Source

Beutler Lab

Gene Symbol

Skiv2l

Ensembl Gene

ENSMUSG00000040356

Gene Name

superkiller viralicidic activity 2-like (S. cerevisiae)

Synonyms

4930534J06Rik, Ski2w

MMRRC Submission

039560-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34839228-34850210 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34847444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 188 (P188T)

Ref Sequence

ENSEMBL: ENSMUSP00000036265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000097343] [ENSMUST00000165953] [ENSMUST00000172966] [ENSMUST00000173065] [ENSMUST00000173357] [ENSMUST00000173415]

AlphaFold

Q6NZR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000046022
AA Change: P188T

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

SMART Domains

Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356
AA Change: P188T

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: ENSMUST00000097343

SMART Domains

Protein: ENSMUSP00000094956
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	239	N/A	INTRINSIC
RRM	259	324	7.25e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165953

SMART Domains

Protein: ENSMUSP00000131195
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	239	N/A	INTRINSIC
RRM	259	324	7.25e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172878

Predicted Effect

probably benign
Transcript: ENSMUST00000172966

Predicted Effect

probably benign
Transcript: ENSMUST00000173065

SMART Domains

Protein: ENSMUSP00000133934
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	228	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173305

Predicted Effect

probably benign
Transcript: ENSMUST00000173357

SMART Domains

Protein: ENSMUSP00000134272
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	239	N/A	INTRINSIC
RRM	259	324	7.25e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174226

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.2%

Validation Efficiency

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	T	5: 114,809,273	C64*	probably null	Het
1700003H04Rik	A	C	3: 124,575,336	Y109D	possibly damaging	Het
Abca15	A	T	7: 120,340,099	I239F	probably damaging	Het
Adgrv1	A	T	13: 81,556,957	I1578K	probably damaging	Het
Adgrv1	A	G	13: 81,593,048	V99A	probably damaging	Het
Ap4e1	G	T	2: 127,061,555	K792N	probably null	Het
Ap5b1	G	A	19: 5,569,864	W437*	probably null	Het
Arhgef17	A	G	7: 100,930,862	L293P	probably benign	Het
Arhgef33	A	C	17: 80,371,389	M505L	probably benign	Het
Arih1	T	A	9: 59,403,380	R320S	probably damaging	Het
Atp1b3	A	T	9: 96,364,153	M1K	probably null	Het
AU022751	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 6,082,591		probably benign	Het
Bbs2	T	C	8: 94,089,844	D130G	possibly damaging	Het
Bscl2	G	A	19: 8,841,145	R38H	probably damaging	Het
Cad	A	G	5: 31,068,762	Y1102C	probably damaging	Het
Cc2d1b	G	A	4: 108,633,226	R825Q	probably damaging	Het
Ccdc39	A	G	3: 33,839,145	V97A	possibly damaging	Het
Ccr1	T	C	9: 123,964,473	T7A	probably benign	Het
Cd33	A	G	7: 43,532,194	S181P	probably damaging	Het
Cdc20	A	C	4: 118,433,107	S452R	probably damaging	Het
Cdk8	A	T	5: 146,296,378	I229F	possibly damaging	Het
Ces3a	A	T	8: 105,050,277	N131Y	probably damaging	Het
Cgnl1	A	G	9: 71,724,590	I493T	probably benign	Het
Chia1	G	A	3: 106,131,904	V437M	probably benign	Het
Chrna2	G	A	14: 66,143,429	R49H	probably benign	Het
Clec12b	A	G	6: 129,376,302	C241R	probably damaging	Het
Col11a1	A	G	3: 114,097,154	D380G	unknown	Het
Crebbp	A	G	16: 4,115,885	S948P	probably damaging	Het
Dchs1	G	A	7: 105,772,071	R381*	probably null	Het
Defb19	A	T	2: 152,576,165	*84R	probably null	Het
Dnah8	T	C	17: 30,673,888	F816L	probably benign	Het
Dync2h1	T	A	9: 7,103,663	I371F	possibly damaging	Het
Fggy	T	C	4: 95,902,058		probably benign	Het
Galnt12	G	A	4: 47,117,956	C125Y	probably damaging	Het
Gm4952	A	T	19: 12,624,675	D149V	probably damaging	Het
Gm6309	A	T	5: 146,170,583	H37Q	possibly damaging	Het
Gmnn	A	G	13: 24,756,632	L78P	possibly damaging	Het
Golga4	C	A	9: 118,555,732	Q613K	probably benign	Het
Iqgap2	A	T	13: 95,630,010	I1495K	probably damaging	Het
Junb	T	C	8: 84,978,129	T101A	probably damaging	Het
Kif21b	T	C	1: 136,156,111	Y699H	probably damaging	Het
Klf17	T	C	4: 117,760,935	E75G	probably damaging	Het
Klra17	T	C	6: 129,872,314	E99G	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	7: 118,852,449		probably benign	Het
Krt83	C	T	15: 101,489,657	V167M	probably benign	Het
Lce1m	A	G	3: 93,018,625		probably benign	Het
Lpin3	A	T	2: 160,904,548	Y709F	probably damaging	Het
Ltbp2	T	A	12: 84,791,944	D1080V	probably damaging	Het
Mycbp2	G	A	14: 103,204,389	T1980I	probably damaging	Het
Myo1g	T	A	11: 6,515,140	K435M	probably damaging	Het
Mypn	T	A	10: 63,169,368	N320I	probably damaging	Het
Naip5	A	T	13: 100,222,206	W841R	probably benign	Het
Ncapd2	A	T	6: 125,170,992	M1124K	probably damaging	Het
Ncf4	A	G	15: 78,262,360	D330G	probably benign	Het
Ndst3	C	T	3: 123,601,455	V509M	possibly damaging	Het
Neb	A	T	2: 52,227,244	D4105E	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nsrp1	A	T	11: 77,046,619	F250L	probably benign	Het
Olfr1024	A	T	2: 85,904,671	Y128N	probably damaging	Het
Olfr1087	C	T	2: 86,690,797	M59I	possibly damaging	Het
Olfr552	G	T	7: 102,605,302	G316V	probably benign	Het
Olfr646	C	T	7: 104,106,464	L62F	probably benign	Het
Olfr724	T	C	14: 49,961,101		probably null	Het
Olfr740	A	G	14: 50,453,681	I210V	probably benign	Het
Oxr1	A	G	15: 41,797,474	D67G	probably damaging	Het
P2ry12	A	T	3: 59,218,077	I59N	probably damaging	Het
Pcdhb12	G	T	18: 37,437,058	G419V	probably damaging	Het
Pdzd2	G	T	15: 12,373,829	S2073R	possibly damaging	Het
Pex5l	C	A	3: 33,015,013	E112*	probably null	Het
Plaur	A	G	7: 24,472,591	D163G	probably benign	Het
Plk2	A	G	13: 110,400,088	Y638C	probably benign	Het
Ppp1r15b	A	G	1: 133,133,350	N535S	probably benign	Het
Ppp2r1b	T	C	9: 50,870,145	L21P	probably damaging	Het
Prkar2a	G	A	9: 108,728,270	V176I	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rag1	A	G	2: 101,642,991	M602T	possibly damaging	Het
Rb1	A	G	14: 73,322,084	V60A	probably benign	Het
Rgs20	T	A	1: 4,912,337	I303F	probably damaging	Het
Rnf43	T	A	11: 87,729,431	I240N	probably damaging	Het
Romo1	G	A	2: 156,144,513	V19M	probably benign	Het
Ryr1	A	G	7: 29,070,621	S2676P	probably damaging	Het
Ryr3	G	A	2: 112,709,197	Q3233*	probably null	Het
Slc26a6	A	G	9: 108,855,836	R5G	probably benign	Het
Slc33a1	A	G	3: 63,963,955	L79P	probably damaging	Het
Snx31	G	A	15: 36,545,600	R91C	probably damaging	Het
Tecpr2	T	C	12: 110,954,800	I1269T	possibly damaging	Het
Tjap1	G	T	17: 46,261,442	D89E	probably benign	Het
Tmem53	A	T	4: 117,265,893	Q39L	probably damaging	Het
Tmod1	G	T	4: 46,083,549	V95F	possibly damaging	Het
Trim30c	A	C	7: 104,382,689	H306Q	probably benign	Het
Trpm3	A	T	19: 22,986,872	M1244L	possibly damaging	Het
Tspan32	A	G	7: 143,005,149	I14V	probably null	Het
Ube4b	A	G	4: 149,351,578	V695A	probably benign	Het
Ubxn11	G	A	4: 134,124,141		probably null	Het
Ugt3a2	A	G	15: 9,361,524	I129V	probably benign	Het
Vmn1r45	A	G	6: 89,933,076	V304A	probably damaging	Het
Vmn2r124	A	T	17: 18,063,273	S410C	probably damaging	Het
Vmn2r15	T	A	5: 109,293,329	D221V	probably damaging	Het
Vmn2r79	G	A	7: 87,037,444	V678I	probably benign	Het
Vps13b	A	T	15: 35,438,730	R319*	probably null	Het
Wdr95	G	A	5: 149,599,294	R639Q	probably benign	Het
Xirp2	A	G	2: 67,511,530	I1372V	probably benign	Het
Xpo5	T	A	17: 46,226,980	M611K	probably benign	Het
Zfat	A	G	15: 68,212,680	C121R	probably damaging	Het
Zfp382	A	T	7: 30,133,296	Y124F	probably benign	Het
Zfp512b	A	G	2: 181,589,189	F371S	probably benign	Het
Zfy2	A	G	Y: 2,116,185	V285A	probably benign	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
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
R5979:Skiv2l	UTSW	17	34841463	missense	probably benign	0.01
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'- TCAGATCAAGAGGCTCCAGCAGAC -3'
(R):5'- ACTTTGAGAAAGGTGAAGTGGCCC -3'

Sequencing Primer
(F):5'- TCCAGCAGACGGCTGAG -3'
(R):5'- CGAAAAGGTGTCCTCTCTAGTAGC -3'

Posted On

2014-04-13