Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Wiz'

486788

Institutional Source

Beutler Lab

Gene Symbol

Wiz

Ensembl Gene

ENSMUSG00000024050

Gene Name

widely-interspaced zinc finger motifs

Synonyms

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32354055-32389401 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 32378496 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064694] [ENSMUST00000087703] [ENSMUST00000163107] [ENSMUST00000165912] [ENSMUST00000169280] [ENSMUST00000170617] [ENSMUST00000171728]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064694

SMART Domains

Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050

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

noncoding transcript
Transcript: ENSMUST00000087699

Predicted Effect

probably benign
Transcript: ENSMUST00000087703

SMART Domains

Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050

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 benign
Transcript: ENSMUST00000169280

SMART Domains

Protein: ENSMUSP00000129700
Gene: ENSMUSG00000024050

Domain	Start	End	E-Value	Type
low complexity region	27	35	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

Predicted Effect

probably benign
Transcript: ENSMUST00000171728

SMART Domains

Protein: ENSMUSP00000130054
Gene: ENSMUSG00000024050

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180608

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,458,398	C296*	probably null	Het
Adam11	T	A	11: 102,774,272	Y413*	probably null	Het
Ankhd1	A	G	18: 36,656,715	I907V	probably benign	Het
Arrdc5	A	G	17: 56,297,897	I130T	probably benign	Het
Asic5	T	A	3: 82,020,987	I419K	probably damaging	Het
Atp4a	A	T	7: 30,715,530	E248V	probably damaging	Het
Avil	C	A	10: 127,011,761	V154L	probably benign	Het
Bclaf1	T	A	10: 20,323,536	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,746,416		probably benign	Het
Cd200r4	A	C	16: 44,832,090	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,552,202	M1K	probably null	Het
Cfap46	T	A	7: 139,678,514	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,062,606	F533L	probably benign	Het
Chil4	T	A	3: 106,219,452	I5F	probably benign	Het
Ctu2	A	T	8: 122,476,588	R48W	probably damaging	Het
Daam1	A	T	12: 71,946,576	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415	Y328N	possibly damaging	Het
Dst	A	T	1: 34,177,931	K1151*	probably null	Het
Ect2	T	C	3: 27,130,070	D503G	probably damaging	Het
Epm2a	C	A	10: 11,457,345	D307E	probably benign	Het
Exph5	A	T	9: 53,337,930	D73V	probably damaging	Het
Fam20b	C	T	1: 156,705,740	G102D	probably damaging	Het
Fat2	T	C	11: 55,281,175	N2904S	probably damaging	Het
Flt3	T	A	5: 147,375,690	Q147L	possibly damaging	Het
Fndc11	A	G	2: 181,222,163	T254A	possibly damaging	Het
Galnt15	C	T	14: 32,058,287	R514*	probably null	Het
Gbgt1	A	G	2: 28,505,208	D286G	probably damaging	Het
Ggt1	T	A	10: 75,579,198		probably null	Het
Gm26526	A	T	7: 39,589,234		noncoding transcript	Het
H2-K1	T	C	17: 33,997,462	T237A	probably damaging	Het
Igf1r	T	A	7: 68,207,319	S1010T	probably damaging	Het
Il21	T	C	3: 37,227,735	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,569,175	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,314,594	P2173S	probably benign	Het
Krt1	A	T	15: 101,846,368	S512T	unknown	Het
Krtap16-1	G	A	11: 99,985,598	R327*	probably null	Het
Lama1	T	A	17: 67,756,716	I745N	probably benign	Het
Lrrk1	T	A	7: 66,307,107	N372I	probably benign	Het
Lyst	A	T	13: 13,683,070	E2481D	probably benign	Het
Map2k1	A	T	9: 64,187,745		probably benign	Het
Mbip	A	G	12: 56,337,443	V215A	probably damaging	Het
Mdc1	T	A	17: 35,847,922	V398D	probably benign	Het
Mog	T	G	17: 37,012,372	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 47,309,436		noncoding transcript	Het
Muc5b	C	T	7: 141,864,540	S3741L	probably benign	Het
Myo5a	A	T	9: 75,130,120	I202F	probably damaging	Het
Myo5b	A	T	18: 74,700,606	I818F	possibly damaging	Het
Nfia	T	A	4: 98,014,297	M262K	probably damaging	Het
Nisch	C	T	14: 31,206,567		probably null	Het
Nkd1	A	G	8: 88,589,194	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,893,560	K284*	probably null	Het
Olfr1052	A	T	2: 86,297,921	Y35F	probably damaging	Het
Olfr1058	A	T	2: 86,386,140	S93T	possibly damaging	Het
Olfr262	A	G	19: 12,241,248	S138P	probably damaging	Het
Olfr305	A	T	7: 86,364,190	V49E	possibly damaging	Het
Olfr619	T	G	7: 103,603,789	I45R	probably benign	Het
Olfr723	A	T	14: 49,928,779	I255N	probably damaging	Het
Olfr725	C	A	14: 50,034,678	A242S	possibly damaging	Het
Olfr972	A	T	9: 39,873,445	T57S	possibly damaging	Het
Pcdhb17	A	T	18: 37,486,825	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,726,620	D243V	probably benign	Het
Polq	A	T	16: 37,089,319	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,182,738	Y506*	probably null	Het
Sp110	G	C	1: 85,577,202		probably benign	Het
Tarbp1	G	A	8: 126,467,156	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,627,547	F13V	probably benign	Het
Tgfb2	A	G	1: 186,704,483	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,411,806	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,538,033	K158N	probably benign	Het
Tnip2	G	T	5: 34,503,578	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075		probably null	Het
Ttc28	C	T	5: 111,271,238	P1398S	probably benign	Het
Umodl1	T	G	17: 30,980,359	I308S	possibly damaging	Het
Vcan	A	T	13: 89,691,600	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,063,077	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,825,318	C542S	probably damaging	Het
Wrap73	A	G	4: 154,155,346	Y343C	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
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
R9564:Wiz	UTSW	17	32356965	missense	probably benign	0.00
R9565:Wiz	UTSW	17	32356965	missense	probably benign	0.00
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'- TGAGCTTGGCATAAGGTTTCATAG -3'
(R):5'- TGGCCTTGACGCAATACCTC -3'

Sequencing Primer
(F):5'- GGCATAAGGTTTCATAGTTCTCAC -3'
(R):5'- CTTGACGCAATACCTCTGGAAAGG -3'

Posted On

2017-08-17