Mutagenetix > Incidental Mutations

Incidental Mutation 'R2423:Wiz'

249455

Institutional Source

Beutler Lab

Gene Symbol

Wiz

Ensembl Gene

ENSMUSG00000024050

Gene Name

widely-interspaced zinc finger motifs

Synonyms

MMRRC Submission

040385-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2423 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32354055-32389401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 32361885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 197 (H197Q)

Ref Sequence

ENSEMBL: ENSMUSP00000084993 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064694
AA Change: H197Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: H197Q

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: H197Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: H197Q

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

noncoding transcript
Transcript: ENSMUST00000168943

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169488
AA Change: H76Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126253
Gene: ENSMUSG00000024050
AA Change: H76Q

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

noncoding transcript
Transcript: ENSMUST00000169741

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amer2	T	C	14: 60,379,207	S284P	possibly damaging	Het
Ap5z1	T	C	5: 142,476,777	V614A	probably benign	Het
Arhgap9	A	T	10: 127,327,124		probably null	Het
Brf1	G	A	12: 113,000,199	A53V	probably benign	Het
Cyp1a2	C	T	9: 57,679,949	R353Q	probably damaging	Het
Deup1	G	T	9: 15,592,458	S269*	probably null	Het
F11r	T	A	1: 171,461,623	Y218N	possibly damaging	Het
Gjd4	G	T	18: 9,280,811	S89*	probably null	Het
Mapkbp1	A	T	2: 120,024,590	E1430V	probably benign	Het
Mga	A	G	2: 119,964,793	K2986R	probably damaging	Het
Myo9b	G	T	8: 71,327,940	V494L	probably damaging	Het
Nbea	G	A	3: 56,085,306	T293I	probably damaging	Het
Neto2	C	T	8: 85,669,767	R83Q	probably damaging	Het
Ocm	A	T	5: 144,024,570		probably null	Het
Olfr619	C	T	7: 103,604,034	R127C	probably benign	Het
Pcdha11	T	C	18: 37,007,424	I702T	possibly damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Rbbp8nl	A	T	2: 180,280,971	S210T	probably damaging	Het
Rbl2	A	T	8: 91,087,146	I340F	probably benign	Het
Rft1	T	C	14: 30,666,767	L216P	possibly damaging	Het
Slc26a10	T	A	10: 127,179,737		probably null	Het
Slc34a1	G	A	13: 55,409,052	A235T	possibly damaging	Het
Spag17	A	G	3: 100,103,456	T2089A	probably benign	Het
Srek1	G	C	13: 103,753,028	S260*	probably null	Het
Sspo	T	C	6: 48,454,055	V624A	probably benign	Het
Tapt1	T	C	5: 44,192,453	I251V	probably benign	Het
Tmem248	T	C	5: 130,229,562	I32T	probably damaging	Het
Tnk1	T	G	11: 69,855,761	T209P	probably damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,814,790		probably null	Het
Trp53tg5	T	A	2: 164,471,330	R142*	probably null	Het
Upf1	C	T	8: 70,338,460	R544H	probably damaging	Het
Vldlr	C	T	19: 27,236,288	T125I	possibly damaging	Het
Vps8	A	G	16: 21,559,337	T1033A	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
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
R7014:Wiz	UTSW	17	32361866	missense	probably damaging	0.98
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
R9150:Wiz	UTSW	17	32367835	missense	probably benign	0.31
R9298:Wiz	UTSW	17	32361740	missense	probably benign
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'- TCTGAAAGGCATTCCCACTG -3'

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

Posted On

2014-11-12