Mutagenetix > Incidental Mutation

Incidental Mutation 'R1513:Skic2'

168578

Institutional Source

Beutler Lab

Gene Symbol

Skic2

Ensembl Gene

ENSMUSG00000040356

Gene Name

SKI2 subunit of superkiller complex

Synonyms

4930534J06Rik, Ski2w, Skiv2l

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

35058202-35069180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35066420 bp (GRCm39)

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: ENSMUST00000174887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174226

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

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: 114,947,334 (GRCm39)	C64*	probably null	Het
1700003H04Rik	A	C	3: 124,368,985 (GRCm39)	Y109D	possibly damaging	Het
Abca15	A	T	7: 119,939,322 (GRCm39)	I239F	probably damaging	Het
Adgrv1	A	G	13: 81,741,167 (GRCm39)	V99A	probably damaging	Het
Adgrv1	A	T	13: 81,705,076 (GRCm39)	I1578K	probably damaging	Het
Ap4e1	G	T	2: 126,903,475 (GRCm39)	K792N	probably null	Het
Ap5b1	G	A	19: 5,619,892 (GRCm39)	W437*	probably null	Het
Arhgef17	A	G	7: 100,580,069 (GRCm39)	L293P	probably benign	Het
Arhgef33	A	C	17: 80,678,818 (GRCm39)	M505L	probably benign	Het
Arih1	T	A	9: 59,310,663 (GRCm39)	R320S	probably damaging	Het
Atp1b3	A	T	9: 96,246,206 (GRCm39)	M1K	probably null	Het
Bbs2	T	C	8: 94,816,472 (GRCm39)	D130G	possibly damaging	Het
Bscl2	G	A	19: 8,818,509 (GRCm39)	R38H	probably damaging	Het
Cad	A	G	5: 31,226,106 (GRCm39)	Y1102C	probably damaging	Het
Cc2d1b	G	A	4: 108,490,423 (GRCm39)	R825Q	probably damaging	Het
Ccdc39	A	G	3: 33,893,294 (GRCm39)	V97A	possibly damaging	Het
Ccr1	T	C	9: 123,764,510 (GRCm39)	T7A	probably benign	Het
Cd33	A	G	7: 43,181,618 (GRCm39)	S181P	probably damaging	Het
Cdc20	A	C	4: 118,290,304 (GRCm39)	S452R	probably damaging	Het
Cdk8	A	T	5: 146,233,188 (GRCm39)	I229F	possibly damaging	Het
Ces3a	A	T	8: 105,776,909 (GRCm39)	N131Y	probably damaging	Het
Cgnl1	A	G	9: 71,631,872 (GRCm39)	I493T	probably benign	Het
Chia1	G	A	3: 106,039,220 (GRCm39)	V437M	probably benign	Het
Chrna2	G	A	14: 66,380,878 (GRCm39)	R49H	probably benign	Het
Clec12b	A	G	6: 129,353,265 (GRCm39)	C241R	probably damaging	Het
Col11a1	A	G	3: 113,890,803 (GRCm39)	D380G	unknown	Het
Crebbp	A	G	16: 3,933,749 (GRCm39)	S948P	probably damaging	Het
Dchs1	G	A	7: 105,421,278 (GRCm39)	R381*	probably null	Het
Defb19	A	T	2: 152,418,085 (GRCm39)	*84R	probably null	Het
Dnah8	T	C	17: 30,892,862 (GRCm39)	F816L	probably benign	Het
Dync2h1	T	A	9: 7,103,663 (GRCm39)	I371F	possibly damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fggy	T	C	4: 95,790,295 (GRCm39)		probably benign	Het
Galnt12	G	A	4: 47,117,956 (GRCm39)	C125Y	probably damaging	Het
Gm4952	A	T	19: 12,602,039 (GRCm39)	D149V	probably damaging	Het
Gm6309	A	T	5: 146,107,393 (GRCm39)	H37Q	possibly damaging	Het
Gmnn	A	G	13: 24,940,615 (GRCm39)	L78P	possibly damaging	Het
Golga4	C	A	9: 118,384,800 (GRCm39)	Q613K	probably benign	Het
Iqgap2	A	T	13: 95,766,518 (GRCm39)	I1495K	probably damaging	Het
Junb	T	C	8: 85,704,758 (GRCm39)	T101A	probably damaging	Het
Kif21b	T	C	1: 136,083,849 (GRCm39)	Y699H	probably damaging	Het
Klf17	T	C	4: 117,618,132 (GRCm39)	E75G	probably damaging	Het
Klra17	T	C	6: 129,849,277 (GRCm39)	E99G	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Krt87	C	T	15: 101,387,538 (GRCm39)	V167M	probably benign	Het
Lce1m	A	G	3: 92,925,932 (GRCm39)		probably benign	Het
Lpin3	A	T	2: 160,746,468 (GRCm39)	Y709F	probably damaging	Het
Ltbp2	T	A	12: 84,838,718 (GRCm39)	D1080V	probably damaging	Het
Mycbp2	G	A	14: 103,441,825 (GRCm39)	T1980I	probably damaging	Het
Myo1g	T	A	11: 6,465,140 (GRCm39)	K435M	probably damaging	Het
Mypn	T	A	10: 63,005,147 (GRCm39)	N320I	probably damaging	Het
Naip5	A	T	13: 100,358,714 (GRCm39)	W841R	probably benign	Het
Ncapd2	A	T	6: 125,147,955 (GRCm39)	M1124K	probably damaging	Het
Ncf4	A	G	15: 78,146,560 (GRCm39)	D330G	probably benign	Het
Ndst3	C	T	3: 123,395,104 (GRCm39)	V509M	possibly damaging	Het
Neb	A	T	2: 52,117,256 (GRCm39)	D4105E	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nsrp1	A	T	11: 76,937,445 (GRCm39)	F250L	probably benign	Het
Or11g7	A	G	14: 50,691,138 (GRCm39)	I210V	probably benign	Het
Or4l15	T	C	14: 50,198,558 (GRCm39)		probably null	Het
Or52d1	C	T	7: 103,755,671 (GRCm39)	L62F	probably benign	Het
Or52k2	G	T	7: 102,254,509 (GRCm39)	G316V	probably benign	Het
Or5m12	A	T	2: 85,735,015 (GRCm39)	Y128N	probably damaging	Het
Or8k3b	C	T	2: 86,521,141 (GRCm39)	M59I	possibly damaging	Het
Oxr1	A	G	15: 41,660,870 (GRCm39)	D67G	probably damaging	Het
P2ry12	A	T	3: 59,125,498 (GRCm39)	I59N	probably damaging	Het
Pcdhb12	G	T	18: 37,570,111 (GRCm39)	G419V	probably damaging	Het
Pdzd2	G	T	15: 12,373,915 (GRCm39)	S2073R	possibly damaging	Het
Pex5l	C	A	3: 33,069,162 (GRCm39)	E112*	probably null	Het
Plaur	A	G	7: 24,172,016 (GRCm39)	D163G	probably benign	Het
Plk2	A	G	13: 110,536,622 (GRCm39)	Y638C	probably benign	Het
Ppp1r15b	A	G	1: 133,061,088 (GRCm39)	N535S	probably benign	Het
Ppp2r1b	T	C	9: 50,781,445 (GRCm39)	L21P	probably damaging	Het
Prkar2a	G	A	9: 108,605,469 (GRCm39)	V176I	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rag1	A	G	2: 101,473,336 (GRCm39)	M602T	possibly damaging	Het
Rb1	A	G	14: 73,559,524 (GRCm39)	V60A	probably benign	Het
Rgs20	T	A	1: 4,982,560 (GRCm39)	I303F	probably damaging	Het
Rnf43	T	A	11: 87,620,257 (GRCm39)	I240N	probably damaging	Het
Romo1	G	A	2: 155,986,433 (GRCm39)	V19M	probably benign	Het
Ryr1	A	G	7: 28,770,046 (GRCm39)	S2676P	probably damaging	Het
Ryr3	G	A	2: 112,539,542 (GRCm39)	Q3233*	probably null	Het
Slc26a6	A	G	9: 108,733,035 (GRCm39)	R5G	probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Snx31	G	A	15: 36,545,745 (GRCm39)	R91C	probably damaging	Het
Tecpr2	T	C	12: 110,921,234 (GRCm39)	I1269T	possibly damaging	Het
Tjap1	G	T	17: 46,572,368 (GRCm39)	D89E	probably benign	Het
Tmem53	A	T	4: 117,123,090 (GRCm39)	Q39L	probably damaging	Het
Tmod1	G	T	4: 46,083,549 (GRCm39)	V95F	possibly damaging	Het
Trim30c	A	C	7: 104,031,896 (GRCm39)	H306Q	probably benign	Het
Trpm3	A	T	19: 22,964,236 (GRCm39)	M1244L	possibly damaging	Het
Tspan32	A	G	7: 142,558,886 (GRCm39)	I14V	probably null	Het
Ube4b	A	G	4: 149,436,035 (GRCm39)	V695A	probably benign	Het
Ubxn11	G	A	4: 133,851,452 (GRCm39)		probably null	Het
Ugt3a1	A	G	15: 9,361,610 (GRCm39)	I129V	probably benign	Het
Vmn1r45	A	G	6: 89,910,058 (GRCm39)	V304A	probably damaging	Het
Vmn2r124	A	T	17: 18,283,535 (GRCm39)	S410C	probably damaging	Het
Vmn2r15	T	A	5: 109,441,195 (GRCm39)	D221V	probably damaging	Het
Vmn2r79	G	A	7: 86,686,652 (GRCm39)	V678I	probably benign	Het
Vps13b	A	T	15: 35,438,876 (GRCm39)	R319*	probably null	Het
Wdr95	G	A	5: 149,522,759 (GRCm39)	R639Q	probably benign	Het
Xirp2	A	G	2: 67,341,874 (GRCm39)	I1372V	probably benign	Het
Xpo5	T	A	17: 46,537,906 (GRCm39)	M611K	probably benign	Het
Zfat	A	G	15: 68,084,529 (GRCm39)	C121R	probably damaging	Het
Zfp382	A	T	7: 29,832,721 (GRCm39)	Y124F	probably benign	Het
Zfp512b	A	G	2: 181,230,982 (GRCm39)	F371S	probably benign	Het
Zfy2	A	G	Y: 2,116,185 (GRCm39)	V285A	probably benign	Het

Other mutations in Skic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Skic2	APN	17	35,058,524 (GRCm39)	missense	probably damaging	1.00
IGL00338:Skic2	APN	17	35,065,643 (GRCm39)	missense	probably damaging	0.99
IGL01284:Skic2	APN	17	35,058,664 (GRCm39)	unclassified	probably benign
IGL01308:Skic2	APN	17	35,059,610 (GRCm39)	missense	probably benign	0.19
IGL01874:Skic2	APN	17	35,060,185 (GRCm39)	missense	probably benign
IGL02114:Skic2	APN	17	35,060,092 (GRCm39)	missense	probably damaging	0.97
IGL02208:Skic2	APN	17	35,060,651 (GRCm39)	missense	probably damaging	0.99
IGL02274:Skic2	APN	17	35,064,839 (GRCm39)	missense	probably damaging	1.00
IGL02729:Skic2	APN	17	35,058,581 (GRCm39)	missense	possibly damaging	0.63
IGL02839:Skic2	APN	17	35,066,774 (GRCm39)	missense	probably benign
R0325:Skic2	UTSW	17	35,063,791 (GRCm39)	missense	possibly damaging	0.50
R1102:Skic2	UTSW	17	35,059,082 (GRCm39)	missense	probably benign	0.28
R1294:Skic2	UTSW	17	35,060,040 (GRCm39)	splice site	probably null
R1557:Skic2	UTSW	17	35,067,398 (GRCm39)	missense	probably damaging	1.00
R1747:Skic2	UTSW	17	35,066,782 (GRCm39)	missense	probably benign	0.02
R2401:Skic2	UTSW	17	35,059,361 (GRCm39)	missense	probably benign
R3162:Skic2	UTSW	17	35,066,789 (GRCm39)	nonsense	probably null
R3162:Skic2	UTSW	17	35,066,789 (GRCm39)	nonsense	probably null
R3695:Skic2	UTSW	17	35,066,888 (GRCm39)	missense	probably damaging	1.00
R3700:Skic2	UTSW	17	35,068,879 (GRCm39)	missense	probably benign
R4654:Skic2	UTSW	17	35,068,922 (GRCm39)	missense	probably damaging	1.00
R4736:Skic2	UTSW	17	35,067,173 (GRCm39)	missense	possibly damaging	0.91
R4835:Skic2	UTSW	17	35,061,897 (GRCm39)	missense	possibly damaging	0.66
R5014:Skic2	UTSW	17	35,066,401 (GRCm39)	missense	probably benign	0.00
R5181:Skic2	UTSW	17	35,063,802 (GRCm39)	missense	probably benign	0.44
R5223:Skic2	UTSW	17	35,064,142 (GRCm39)	critical splice donor site	probably null
R5417:Skic2	UTSW	17	35,065,574 (GRCm39)	missense	probably damaging	0.98
R5623:Skic2	UTSW	17	35,066,408 (GRCm39)	missense	probably benign	0.00
R5878:Skic2	UTSW	17	35,065,093 (GRCm39)	missense	possibly damaging	0.83
R5979:Skic2	UTSW	17	35,060,439 (GRCm39)	missense	probably benign	0.01
R6412:Skic2	UTSW	17	35,059,276 (GRCm39)	missense	possibly damaging	0.92
R6501:Skic2	UTSW	17	35,063,412 (GRCm39)	missense	possibly damaging	0.95
R6532:Skic2	UTSW	17	35,063,719 (GRCm39)	missense	probably damaging	1.00
R6730:Skic2	UTSW	17	35,064,166 (GRCm39)	nonsense	probably null
R6732:Skic2	UTSW	17	35,064,166 (GRCm39)	nonsense	probably null
R6741:Skic2	UTSW	17	35,064,166 (GRCm39)	nonsense	probably null
R6742:Skic2	UTSW	17	35,064,166 (GRCm39)	nonsense	probably null
R6769:Skic2	UTSW	17	35,064,166 (GRCm39)	nonsense	probably null
R6771:Skic2	UTSW	17	35,064,166 (GRCm39)	nonsense	probably null
R7022:Skic2	UTSW	17	35,064,183 (GRCm39)	missense	possibly damaging	0.88
R7096:Skic2	UTSW	17	35,060,446 (GRCm39)	missense	probably benign
R7178:Skic2	UTSW	17	35,058,440 (GRCm39)	missense	probably benign
R7315:Skic2	UTSW	17	35,060,145 (GRCm39)	missense	probably benign	0.00
R7584:Skic2	UTSW	17	35,060,651 (GRCm39)	missense	possibly damaging	0.69
R7677:Skic2	UTSW	17	35,067,140 (GRCm39)	missense	probably benign	0.03
R7796:Skic2	UTSW	17	35,063,394 (GRCm39)	missense	probably damaging	1.00
R8071:Skic2	UTSW	17	35,068,975 (GRCm39)	missense	probably benign	0.22
R8407:Skic2	UTSW	17	35,060,103 (GRCm39)	missense	probably benign	0.00
R8991:Skic2	UTSW	17	35,059,166 (GRCm39)	missense	probably damaging	1.00
R9016:Skic2	UTSW	17	35,063,640 (GRCm39)	missense	probably damaging	0.98
R9021:Skic2	UTSW	17	35,065,579 (GRCm39)	missense	probably damaging	1.00
R9196:Skic2	UTSW	17	35,068,877 (GRCm39)	missense	probably benign	0.00
R9243:Skic2	UTSW	17	35,064,198 (GRCm39)	missense	probably benign	0.33
R9322:Skic2	UTSW	17	35,066,439 (GRCm39)	critical splice acceptor site	probably null
R9475:Skic2	UTSW	17	35,060,078 (GRCm39)	missense	probably benign
R9564:Skic2	UTSW	17	35,063,758 (GRCm39)	missense	probably benign
R9565:Skic2	UTSW	17	35,063,758 (GRCm39)	missense	probably benign
Z1176:Skic2	UTSW	17	35,060,522 (GRCm39)	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