Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:Skiv2l2'

293631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skiv2l2

Ensembl Gene

ENSMUSG00000016018

Gene Name

superkiller viralicidic activity 2-like 2 (S. cerevisiae)

Synonyms

2610528A15Rik

Accession Numbers

Ncbi RefSeq: NM_028151.2; MGI:1919448

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

112867418-112927398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112891347 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 660 (V660M)

Ref Sequence

ENSEMBL: ENSMUSP00000022281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022281]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022281
AA Change: V660M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: V660M

Domain	Start	End	E-Value	Type
low complexity region	20	37	N/A	INTRINSIC
DEXDc	134	317	6.42e-34	SMART
HELICc	437	526	3.14e-19	SMART
Pfam:rRNA_proc-arch	580	839	1.7e-91	PFAM
DSHCT	863	1040	1.69e-96	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(16) : Targeted(2) Gene trapped(14)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
BC017158	A	G	7: 128,276,410	L257P	probably damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,101,424	L298H	probably damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Ifi47	T	C	11: 49,095,777	Y124H	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mapk13	A	G	17: 28,776,413	T203A	probably damaging	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rab6a	T	C	7: 100,636,763		probably null	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Slc27a2	A	G	2: 126,578,992	M468V	probably benign	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Tmem101	T	A	11: 102,153,293	D256V	probably damaging	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Trpc7	A	G	13: 56,822,461	S382P	probably damaging	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Skiv2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Skiv2l2	APN	13	112914489	missense	probably damaging	1.00
IGL01772:Skiv2l2	APN	13	112891325	missense	probably benign	0.10
IGL01843:Skiv2l2	APN	13	112918561	splice site	probably benign
IGL01972:Skiv2l2	APN	13	112881061	missense	probably damaging	1.00
IGL02716:Skiv2l2	APN	13	112883146	missense	probably benign	0.13
IGL03234:Skiv2l2	APN	13	112880975	splice site	probably benign
K3955:Skiv2l2	UTSW	13	112910979	nonsense	probably null
P0038:Skiv2l2	UTSW	13	112910979	nonsense	probably null
R0067:Skiv2l2	UTSW	13	112886862	missense	probably benign	0.34
R0067:Skiv2l2	UTSW	13	112886862	missense	probably benign	0.34
R0086:Skiv2l2	UTSW	13	112927328	missense	probably benign	0.00
R0687:Skiv2l2	UTSW	13	112914361	missense	probably damaging	1.00
R1216:Skiv2l2	UTSW	13	112914342	splice site	probably benign
R1218:Skiv2l2	UTSW	13	112917622	missense	probably damaging	1.00
R1312:Skiv2l2	UTSW	13	112883251	nonsense	probably null
R1827:Skiv2l2	UTSW	13	112913099	critical splice donor site	probably null
R1852:Skiv2l2	UTSW	13	112872927	missense	probably benign	0.00
R1889:Skiv2l2	UTSW	13	112887490	missense	probably benign	0.00
R2205:Skiv2l2	UTSW	13	112898890	missense	probably benign	0.06
R2256:Skiv2l2	UTSW	13	112876512	missense	probably damaging	0.98
R2394:Skiv2l2	UTSW	13	112883168	missense	probably benign	0.02
R3717:Skiv2l2	UTSW	13	112895595	missense	probably damaging	1.00
R3779:Skiv2l2	UTSW	13	112903392	splice site	probably benign
R4613:Skiv2l2	UTSW	13	112921739	nonsense	probably null
R4939:Skiv2l2	UTSW	13	112909892	missense	possibly damaging	0.91
R5452:Skiv2l2	UTSW	13	112913181	missense	probably null	0.96
R5591:Skiv2l2	UTSW	13	112927356	start codon destroyed	probably null	0.88
R5688:Skiv2l2	UTSW	13	112873056	nonsense	probably null
R5761:Skiv2l2	UTSW	13	112917662	missense	probably damaging	0.96
R5789:Skiv2l2	UTSW	13	112891285	missense	probably benign	0.01
R5851:Skiv2l2	UTSW	13	112908952	missense	probably damaging	1.00
R6038:Skiv2l2	UTSW	13	112891290	missense	probably benign	0.00
R6038:Skiv2l2	UTSW	13	112891290	missense	probably benign	0.00
R6348:Skiv2l2	UTSW	13	112910917	missense	possibly damaging	0.88
R7276:Skiv2l2	UTSW	13	112914439	missense	probably benign	0.00
R7397:Skiv2l2	UTSW	13	112921686	missense	probably benign
R7792:Skiv2l2	UTSW	13	112872909	missense	probably benign	0.02
R7863:Skiv2l2	UTSW	13	112908901	missense	probably benign	0.00
R7946:Skiv2l2	UTSW	13	112908901	missense	probably benign	0.00
R7948:Skiv2l2	UTSW	13	112921762	missense	probably benign	0.02
R8035:Skiv2l2	UTSW	13	112898802	missense	probably benign	0.09

Posted On

2015-04-16