Mutagenetix > Incidental Mutations

Incidental Mutation 'R7051:Wiz'

547626

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 #

R7051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32354055-32389401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32361533 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 315 (S315P)

Ref Sequence

ENSEMBL: ENSMUSP00000084993 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064694
AA Change: S315P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: S315P

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 damaging
Transcript: ENSMUST00000087703
AA Change: S315P

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

SMART Domains

Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: S315P

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: S194P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126253
Gene: ENSMUSG00000024050
AA Change: S194P

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

0.1586

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (80/84)

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	C	T	8: 33,429,173	S7L	unknown	Het
Aggf1	T	C	13: 95,351,617	K674R	possibly damaging	Het
Ampd1	T	C	3: 103,090,073	F264L	probably damaging	Het
Ankle1	A	T	8: 71,407,743	S302C	probably damaging	Het
Ankrd17	G	A	5: 90,366,451		probably benign	Het
Arhgap18	T	A	10: 26,849,921	N47K	possibly damaging	Het
Atp5f1	T	C	3: 105,943,767	N205D	probably benign	Het
Atp8b3	C	T	10: 80,520,024	E1285K	probably benign	Het
Atp8b3	C	A	10: 80,529,718	V401L	probably damaging	Het
Cacna1a	G	A	8: 84,629,915	R1929Q	possibly damaging	Het
Cadm2	C	T	16: 66,882,879	S22N	possibly damaging	Het
Ccdc177	C	T	12: 80,759,153	V116M	probably damaging	Het
Cdkl2	A	T	5: 92,033,225	I185N	probably damaging	Het
Cfhr2	T	A	1: 139,810,978	I282L	probably benign	Het
Clns1a	T	A	7: 97,712,617		probably null	Het
Commd2	A	T	3: 57,646,686	I198N	probably damaging	Het
Creb3l2	C	T	6: 37,336,265	V365I	possibly damaging	Het
Dcaf6	A	T	1: 165,424,317	N79K	possibly damaging	Het
Dlg5	T	C	14: 24,146,195	N1622D	possibly damaging	Het
Dock7	C	T	4: 98,946,732	R1802H	probably damaging	Het
Dpy19l2	T	C	9: 24,584,493	K643R	probably benign	Het
Dscam	G	A	16: 96,819,786	T574M	probably benign	Het
Fam209	A	G	2: 172,474,049	T115A	probably damaging	Het
Fastkd5	C	T	2: 130,614,417	C751Y	probably damaging	Het
Fat3	C	A	9: 16,377,827	L133F	probably damaging	Het
Frmd6	T	C	12: 70,897,396	V516A	possibly damaging	Het
Fry	G	A	5: 150,395,169	D955N	possibly damaging	Het
Fuk	A	T	8: 110,890,339	I393N	probably damaging	Het
Gm281	A	G	14: 13,828,486	V758A		Het
Gm340	A	G	19: 41,585,752	D982G	probably benign	Het
Gm7298	T	C	6: 121,775,034		probably null	Het
Golga7b	T	A	19: 42,268,460	*168R	probably null	Het
Golim4	T	A	3: 75,893,002	Q395L	probably benign	Het
Gxylt2	T	A	6: 100,804,576	L404*	probably null	Het
Hist1h1e	A	G	13: 23,622,439	V20A	probably benign	Het
Ighmbp2	G	T	19: 3,261,462	S984R	probably damaging	Het
Irf8	C	T	8: 120,739,842	R9W	probably damaging	Het
Itga4	T	C	2: 79,318,126	V788A	possibly damaging	Het
Kifap3	G	A	1: 163,794,080	R99H	probably damaging	Het
Kiss1r	T	C	10: 79,918,854	S61P	probably damaging	Het
Krtap6-1	A	T	16: 89,031,718	M1L	unknown	Het
Large2	A	T	2: 92,367,022	M411K	probably damaging	Het
Lingo1	A	G	9: 56,620,183	V374A	probably benign	Het
Lrch1	A	G	14: 74,785,522	V637A	probably damaging	Het
Lyar	T	C	5: 38,224,680	V2A	probably damaging	Het
Nell1	C	T	7: 50,448,844	S298L	unknown	Het
Ogfod3	T	A	11: 121,195,205	I188F	probably damaging	Het
Olfr1487	T	A	19: 13,619,405	M81K	possibly damaging	Het
Olfr173	T	C	16: 58,797,175	T224A	probably benign	Het
Opa3	C	A	7: 19,245,036	A142E	possibly damaging	Het
Pald1	T	C	10: 61,323,346	R769G	probably benign	Het
Pappa2	T	A	1: 158,957,183	T86S	unknown	Het
Papss1	T	C	3: 131,602,050	Y266H	probably damaging	Het
Pcdhga7	C	A	18: 37,716,941	A667D	probably damaging	Het
Pcsk5	T	A	19: 17,433,731	T1766S	probably benign	Het
Pds5b	T	A	5: 150,794,282	N1129K	possibly damaging	Het
Pop7	T	C	5: 137,501,690	N127S	probably damaging	Het
Ppfibp2	A	G	7: 107,717,718	E300G	probably damaging	Het
Ppp4r3b	A	G	11: 29,182,507	K87E	probably damaging	Het
Psmd3	T	A	11: 98,682,833	M35K	possibly damaging	Het
Pus7	A	G	5: 23,775,679	V191A	probably damaging	Het
Rptor	C	T	11: 119,874,186		probably benign	Het
Sacs	A	G	14: 61,208,928	M2808V	probably benign	Het
Scube3	G	A	17: 28,167,599	V831I	probably benign	Het
Sin3a	A	T	9: 57,103,934	N492Y	probably damaging	Het
Slc12a3	A	G	8: 94,365,944	T998A	probably damaging	Het
Slc4a1	T	C	11: 102,356,258	N501S	probably benign	Het
Sltm	G	A	9: 70,559,066	G94R	probably damaging	Het
Smc4	T	A	3: 69,027,502	W650R	probably damaging	Het
Smg7	A	G	1: 152,848,850	S527P	probably damaging	Het
Tcf20	T	C	15: 82,856,078	N391D	probably damaging	Het
Tiam2	G	A	17: 3,448,483	V845M	probably damaging	Het
Tln2	A	G	9: 67,346,417	F793L	probably benign	Het
Uckl1	T	C	2: 181,574,244	I193V	probably damaging	Het
Ugt1a5	A	G	1: 88,166,355	M102V	probably benign	Het
Usp38	G	A	8: 81,001,121	P328S	possibly damaging	Het
Vmn1r189	A	G	13: 22,102,115	V184A	possibly damaging	Het
Vps13d	C	A	4: 145,163,344	A597S	probably benign	Het
Wdr47	T	A	3: 108,618,524	L121Q	probably damaging	Het
Zc3h13	T	C	14: 75,331,157	S1297P	probably damaging	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,895,021		probably benign	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	intron	probably null
R6571:Wiz	UTSW	17	32359324	missense	probably damaging	1.00
R6823:Wiz	UTSW	17	32360421	missense	probably damaging	0.99
R7014:Wiz	UTSW	17	32361866	missense	probably damaging	0.98
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
R7932:Wiz	UTSW	17	32357786	missense	probably benign	0.26
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	not run
Z1177:Wiz	UTSW	17	32357778	missense	not run

Predicted Primers

PCR Primer
(F):5'- AATAGGAGACATAGTGAGTGCCTC -3'
(R):5'- TCACACTGGCCAAACCTATGG -3'

Sequencing Primer
(F):5'- TAGTGAGTGCCTCAACTAGCACTG -3'
(R):5'- AAACCTATGGATGCCCCTGCTG -3'

Posted On

2019-05-13