Mutagenetix > Incidental Mutations

Incidental Mutation 'R7014:Wiz'

545225

Institutional Source

Beutler Lab

Gene Symbol

Wiz

Ensembl Gene

ENSMUSG00000024050

Gene Name

widely-interspaced zinc finger motifs

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32354055-32389401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32361866 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 83 (A83S)

Ref Sequence

ENSEMBL: ENSMUSP00000126253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064694] [ENSMUST00000087703] [ENSMUST00000163107] [ENSMUST00000165912] [ENSMUST00000169488] [ENSMUST00000170617]

Predicted Effect

probably benign
Transcript: ENSMUST00000064694
AA Change: A204S

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: A204S

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC
ZnF_C2H2	74	96	8.67e-1	SMART
ZnF_C2H2	175	197	4.72e-2	SMART
ZnF_C2H2	348	370	1.67e-2	SMART
low complexity region	401	412	N/A	INTRINSIC
low complexity region	439	458	N/A	INTRINSIC
ZnF_C2H2	532	554	1.67e-2	SMART
low complexity region	576	588	N/A	INTRINSIC
low complexity region	607	623	N/A	INTRINSIC
ZnF_C2H2	702	724	1.41e0	SMART
low complexity region	784	793	N/A	INTRINSIC
low complexity region	869	887	N/A	INTRINSIC
ZnF_C2H2	901	927	1.06e2	SMART
low complexity region	936	956	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087703
AA Change: A204S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: A204S

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC
ZnF_C2H2	74	96	8.67e-1	SMART
ZnF_C2H2	175	197	4.72e-2	SMART
ZnF_C2H2	348	370	1.67e-2	SMART
low complexity region	401	412	N/A	INTRINSIC
low complexity region	439	458	N/A	INTRINSIC
ZnF_C2H2	531	553	1.67e-2	SMART
low complexity region	575	587	N/A	INTRINSIC
low complexity region	606	622	N/A	INTRINSIC
ZnF_C2H2	701	723	1.41e0	SMART
low complexity region	783	792	N/A	INTRINSIC
low complexity region	868	886	N/A	INTRINSIC
ZnF_C2H2	900	926	1.06e2	SMART
low complexity region	935	955	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163107

SMART Domains

Protein: ENSMUSP00000127943
Gene: ENSMUSG00000024050

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165912

SMART Domains

Protein: ENSMUSP00000127651
Gene: ENSMUSG00000024050

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC
ZnF_C2H2	74	96	8.67e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169488
AA Change: A83S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126253
Gene: ENSMUSG00000024050
AA Change: A83S

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
ZnF_C2H2	54	76	4.72e-2	SMART
ZnF_C2H2	227	249	3.52e-1	SMART
low complexity region	294	318	N/A	INTRINSIC
ZnF_C2H2	357	379	1.67e-2	SMART
low complexity region	410	421	N/A	INTRINSIC
low complexity region	448	467	N/A	INTRINSIC
ZnF_C2H2	541	563	1.67e-2	SMART
low complexity region	585	597	N/A	INTRINSIC
low complexity region	616	632	N/A	INTRINSIC
ZnF_C2H2	711	733	1.41e0	SMART
low complexity region	793	802	N/A	INTRINSIC
low complexity region	878	896	N/A	INTRINSIC
ZnF_C2H2	910	936	1.06e2	SMART
low complexity region	945	965	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170617

SMART Domains

Protein: ENSMUSP00000130517
Gene: ENSMUSG00000024050

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC

Meta Mutation Damage Score

0.1878

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (80/81)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,578,773	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,045,942	I264T	probably benign	Het
Arid3a	G	T	10: 79,950,884	M488I	possibly damaging	Het
Auts2	A	G	5: 131,466,123	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,330,962		probably null	Het
Bpifb5	C	A	2: 154,224,956	S43*	probably null	Het
Carhsp1	A	G	16: 8,661,005	V128A	probably benign	Het
Ccdc141	A	G	2: 77,132,297	V101A	probably damaging	Het
Cdk6	C	G	5: 3,473,152	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,725,134	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,721,443	E225G	probably damaging	Het
Copg1	T	A	6: 87,902,340	L456Q	probably damaging	Het
Ctif	T	A	18: 75,437,208	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,919,493	I917T	probably benign	Het
Cyth1	T	C	11: 118,212,651	D9G	probably benign	Het
Dnajb1	T	C	8: 83,610,255	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,623,378	Y139*	probably null	Het
Fam162a	A	T	16: 36,049,932	V59E	probably damaging	Het
Fam213a	T	C	14: 41,002,494	E71G	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Fmo6	C	G	1: 162,926,308	R112T	probably benign	Het
Gm11639	A	G	11: 104,693,422	T100A	probably benign	Het
Gm17087	T	A	17: 8,566,472	D133V	probably benign	Het
Gm17689	C	A	9: 36,582,558	W26C	unknown	Het
Gm21994	A	T	2: 150,255,262	C82*	probably null	Het
Gm42669	A	G	5: 107,508,276	I802V	probably benign	Het
Gp2	T	C	7: 119,451,645	N288D	probably damaging	Het
Gstm7	C	T	3: 107,926,962	D196N	probably benign	Het
Hsph1	A	T	5: 149,630,400	V201D	probably damaging	Het
Il20ra	T	C	10: 19,712,710	L26P	unknown	Het
Itpr1	T	A	6: 108,431,498		probably null	Het
Kcns3	A	T	12: 11,091,687	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,464,179	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,454,574	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,503	I294N	probably damaging	Het
Map1a	A	C	2: 121,300,239	N512T	probably damaging	Het
March8	C	G	6: 116,403,543	C118W	probably damaging	Het
March8	T	G	6: 116,403,544	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,134,915	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,548,583	Q27L	probably benign	Het
Muc16	T	A	9: 18,658,236	T996S	unknown	Het
Mug1	C	T	6: 121,861,125	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,191		probably null	Het
Olfr1133	A	T	2: 87,645,976	L49Q	probably damaging	Het
Olfr1141	T	C	2: 87,753,871	I41V	probably benign	Het
Olfr1535	A	G	13: 21,555,938	F28S	probably benign	Het
Olfr167	A	T	16: 19,515,456	F60Y	probably benign	Het
Olfr873	T	A	9: 20,300,663	C154*	probably null	Het
Parp9	T	A	16: 35,960,063		probably null	Het
Pbx1	T	A	1: 168,431,380	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,715,422	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,561	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,372,975	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,415,930	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,297,067		probably benign	Het
Pknox2	T	A	9: 36,909,667	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,883,270	I582T	probably damaging	Het
Prtg	T	C	9: 72,891,985	Y766H	possibly damaging	Het
Rabgap1	A	G	2: 37,560,563	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,342,072	N60K	probably damaging	Het
Rnf150	C	T	8: 83,042,663	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,255,932	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,049,427	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,741,959	G223C	probably null	Het
Sema6a	T	A	18: 47,298,217	N138I	probably damaging	Het
Sept5	T	A	16: 18,624,909	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,754,234	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,620,966	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,233,887	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,644,364	I538V	probably benign	Het
Slco4c1	A	T	1: 96,823,781		probably null	Het
Smarcad1	T	C	6: 65,052,670	S81P	probably damaging	Het
Smyd1	T	C	6: 71,238,627	D116G	probably damaging	Het
Themis	T	C	10: 28,789,707	Y589H	probably benign	Het
Trim30d	T	C	7: 104,483,336	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,919	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,053,423	Y405C	probably damaging	Het
Wdfy3	A	G	5: 101,894,909		probably null	Het
Zmym6	T	A	4: 127,123,544	Y947*	probably null	Het

Other mutations in Wiz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02145:Wiz	APN	17	32356919	missense	probably benign	0.43
IGL02176:Wiz	APN	17	32356902	missense	probably damaging	0.96
IGL02212:Wiz	APN	17	32368135	missense	probably damaging	1.00
IGL02213:Wiz	APN	17	32367860	missense	probably benign	0.03
IGL02616:Wiz	APN	17	32359469	missense	probably damaging	1.00
IGL02654:Wiz	APN	17	32359350	missense	probably damaging	1.00
IGL02833:Wiz	APN	17	32357879	missense	probably damaging	1.00
IGL03032:Wiz	APN	17	32356558	missense	probably benign
E0370:Wiz	UTSW	17	32355118	missense	probably damaging	1.00
IGL03138:Wiz	UTSW	17	32359119	missense	probably damaging	1.00
PIT4494001:Wiz	UTSW	17	32361931	missense	probably damaging	1.00
R0197:Wiz	UTSW	17	32356441	missense	probably damaging	1.00
R0207:Wiz	UTSW	17	32357033	missense	probably damaging	1.00
R0701:Wiz	UTSW	17	32356441	missense	probably damaging	1.00
R0883:Wiz	UTSW	17	32356441	missense	probably damaging	1.00
R1055:Wiz	UTSW	17	32387642	missense	probably damaging	0.99
R1968:Wiz	UTSW	17	32359372	missense	probably damaging	1.00
R2225:Wiz	UTSW	17	32356925	missense	probably damaging	1.00
R2423:Wiz	UTSW	17	32361885	missense	probably damaging	1.00
R2860:Wiz	UTSW	17	32361706	missense	probably damaging	1.00
R2861:Wiz	UTSW	17	32361706	missense	probably damaging	1.00
R3056:Wiz	UTSW	17	32357697	missense	probably benign	0.01
R3755:Wiz	UTSW	17	32359132	missense	probably damaging	1.00
R3885:Wiz	UTSW	17	32357038	missense	possibly damaging	0.48
R3933:Wiz	UTSW	17	32357898	missense	probably damaging	1.00
R4038:Wiz	UTSW	17	32359224	missense	probably damaging	1.00
R4118:Wiz	UTSW	17	32369357	utr 3 prime	probably benign
R4181:Wiz	UTSW	17	32367985	missense	probably damaging	1.00
R4651:Wiz	UTSW	17	32357681	missense	probably damaging	1.00
R4822:Wiz	UTSW	17	32356437	nonsense	probably null
R4891:Wiz	UTSW	17	32357628	missense	possibly damaging	0.85
R4923:Wiz	UTSW	17	32361596	missense	probably benign	0.01
R5014:Wiz	UTSW	17	32359366	missense	probably damaging	1.00
R5194:Wiz	UTSW	17	32377848	utr 3 prime	probably benign
R5254:Wiz	UTSW	17	32378496	splice site	probably benign
R5944:Wiz	UTSW	17	32357697	missense	probably benign	0.01
R6015:Wiz	UTSW	17	32387600	missense	probably damaging	0.99
R6263:Wiz	UTSW	17	32360443	splice site	probably null
R6571:Wiz	UTSW	17	32359324	missense	probably damaging	1.00
R6823:Wiz	UTSW	17	32360421	missense	probably damaging	0.99
R7051:Wiz	UTSW	17	32361533	missense	probably damaging	1.00
R7144:Wiz	UTSW	17	32357628	missense	possibly damaging	0.85
R7221:Wiz	UTSW	17	32359165	missense	probably benign	0.03
R7260:Wiz	UTSW	17	32359111	missense	probably damaging	0.99
R7453:Wiz	UTSW	17	32379075	missense	probably benign	0.00
R7849:Wiz	UTSW	17	32357786	missense	probably benign	0.26
R8686:Wiz	UTSW	17	32367847	missense	probably damaging	1.00
U24488:Wiz	UTSW	17	32387675	missense	probably damaging	1.00
X0026:Wiz	UTSW	17	32387758	start codon destroyed	probably null	0.94
Z1176:Wiz	UTSW	17	32361495	missense	probably damaging	1.00
Z1177:Wiz	UTSW	17	32357778	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CCATAGGTTTGGCCAGTGTG -3'
(R):5'- CTGAAAGGCATTCCCACTGG -3'

Sequencing Primer
(F):5'- CAGTGTGAGTAGGCCAGGC -3'
(R):5'- AAGACACTTATATTGCCCCTGGG -3'

Posted On

2019-05-13