Mutagenetix > Incidental Mutation

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

045148-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32573029-32608413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32580507 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 33,919,201 (GRCm39)	S7L	unknown	Het
Aggf1	T	C	13: 95,488,125 (GRCm39)	K674R	possibly damaging	Het
Ampd1	T	C	3: 102,997,389 (GRCm39)	F264L	probably damaging	Het
Ankle1	A	T	8: 71,860,387 (GRCm39)	S302C	probably damaging	Het
Ankrd17	G	A	5: 90,514,310 (GRCm39)		probably benign	Het
Arhgap18	T	A	10: 26,725,917 (GRCm39)	N47K	possibly damaging	Het
Atp5pb	T	C	3: 105,851,083 (GRCm39)	N205D	probably benign	Het
Atp8b3	C	T	10: 80,355,858 (GRCm39)	E1285K	probably benign	Het
Atp8b3	C	A	10: 80,365,552 (GRCm39)	V401L	probably damaging	Het
Cacna1a	G	A	8: 85,356,544 (GRCm39)	R1929Q	possibly damaging	Het
Cadm2	C	T	16: 66,679,767 (GRCm39)	S22N	possibly damaging	Het
Ccdc177	C	T	12: 80,805,927 (GRCm39)	V116M	probably damaging	Het
Cdhr18	A	G	14: 13,828,486 (GRCm38)	V758A		Het
Cdkl2	A	T	5: 92,181,084 (GRCm39)	I185N	probably damaging	Het
Cfhr2	T	A	1: 139,738,716 (GRCm39)	I282L	probably benign	Het
Clns1a	T	A	7: 97,361,824 (GRCm39)		probably null	Het
Commd2	A	T	3: 57,554,107 (GRCm39)	I198N	probably damaging	Het
Creb3l2	C	T	6: 37,313,200 (GRCm39)	V365I	possibly damaging	Het
Dcaf6	A	T	1: 165,251,886 (GRCm39)	N79K	possibly damaging	Het
Dlg5	T	C	14: 24,196,263 (GRCm39)	N1622D	possibly damaging	Het
Dock7	C	T	4: 98,834,969 (GRCm39)	R1802H	probably damaging	Het
Dpy19l2	T	C	9: 24,495,789 (GRCm39)	K643R	probably benign	Het
Dscam	G	A	16: 96,620,986 (GRCm39)	T574M	probably benign	Het
Fam209	A	G	2: 172,315,969 (GRCm39)	T115A	probably damaging	Het
Fastkd5	C	T	2: 130,456,337 (GRCm39)	C751Y	probably damaging	Het
Fat3	C	A	9: 16,289,123 (GRCm39)	L133F	probably damaging	Het
Fcsk	A	T	8: 111,616,971 (GRCm39)	I393N	probably damaging	Het
Frmd6	T	C	12: 70,944,170 (GRCm39)	V516A	possibly damaging	Het
Fry	G	A	5: 150,318,634 (GRCm39)	D955N	possibly damaging	Het
Gm7298	T	C	6: 121,751,993 (GRCm39)		probably null	Het
Golga7b	T	A	19: 42,256,899 (GRCm39)	*168R	probably null	Het
Golim4	T	A	3: 75,800,309 (GRCm39)	Q395L	probably benign	Het
Gxylt2	T	A	6: 100,781,537 (GRCm39)	L404*	probably null	Het
H1f4	A	G	13: 23,806,422 (GRCm39)	V20A	probably benign	Het
Ighmbp2	G	T	19: 3,311,462 (GRCm39)	S984R	probably damaging	Het
Irf8	C	T	8: 121,466,581 (GRCm39)	R9W	probably damaging	Het
Itga4	T	C	2: 79,148,470 (GRCm39)	V788A	possibly damaging	Het
Kifap3	G	A	1: 163,621,649 (GRCm39)	R99H	probably damaging	Het
Kiss1r	T	C	10: 79,754,688 (GRCm39)	S61P	probably damaging	Het
Krtap6-1	A	T	16: 88,828,606 (GRCm39)	M1L	unknown	Het
Large2	A	T	2: 92,197,367 (GRCm39)	M411K	probably damaging	Het
Lcor	A	G	19: 41,574,191 (GRCm39)	D982G	probably benign	Het
Lingo1	A	G	9: 56,527,467 (GRCm39)	V374A	probably benign	Het
Lrch1	A	G	14: 75,022,962 (GRCm39)	V637A	probably damaging	Het
Lyar	T	C	5: 38,382,024 (GRCm39)	V2A	probably damaging	Het
Nell1	C	T	7: 50,098,592 (GRCm39)	S298L	unknown	Het
Ogfod3	T	A	11: 121,086,031 (GRCm39)	I188F	probably damaging	Het
Opa3	C	A	7: 18,978,961 (GRCm39)	A142E	possibly damaging	Het
Or5b123	T	A	19: 13,596,769 (GRCm39)	M81K	possibly damaging	Het
Or5k1	T	C	16: 58,617,538 (GRCm39)	T224A	probably benign	Het
Pald1	T	C	10: 61,159,125 (GRCm39)	R769G	probably benign	Het
Pappa2	T	A	1: 158,784,753 (GRCm39)	T86S	unknown	Het
Papss1	T	C	3: 131,307,811 (GRCm39)	Y266H	probably damaging	Het
Pcdhga7	C	A	18: 37,849,994 (GRCm39)	A667D	probably damaging	Het
Pcsk5	T	A	19: 17,411,095 (GRCm39)	T1766S	probably benign	Het
Pds5b	T	A	5: 150,717,747 (GRCm39)	N1129K	possibly damaging	Het
Pop7	T	C	5: 137,499,952 (GRCm39)	N127S	probably damaging	Het
Ppfibp2	A	G	7: 107,316,925 (GRCm39)	E300G	probably damaging	Het
Ppp4r3b	A	G	11: 29,132,507 (GRCm39)	K87E	probably damaging	Het
Psmd3	T	A	11: 98,573,659 (GRCm39)	M35K	possibly damaging	Het
Pus7	A	G	5: 23,980,677 (GRCm39)	V191A	probably damaging	Het
Rptor	C	T	11: 119,765,012 (GRCm39)		probably benign	Het
Sacs	A	G	14: 61,446,377 (GRCm39)	M2808V	probably benign	Het
Scube3	G	A	17: 28,386,573 (GRCm39)	V831I	probably benign	Het
Sin3a	A	T	9: 57,011,218 (GRCm39)	N492Y	probably damaging	Het
Slc12a3	A	G	8: 95,092,572 (GRCm39)	T998A	probably damaging	Het
Slc4a1	T	C	11: 102,247,084 (GRCm39)	N501S	probably benign	Het
Sltm	G	A	9: 70,466,348 (GRCm39)	G94R	probably damaging	Het
Smc4	T	A	3: 68,934,835 (GRCm39)	W650R	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Tcf20	T	C	15: 82,740,279 (GRCm39)	N391D	probably damaging	Het
Tiam2	G	A	17: 3,498,758 (GRCm39)	V845M	probably damaging	Het
Tln2	A	G	9: 67,253,699 (GRCm39)	F793L	probably benign	Het
Uckl1	T	C	2: 181,216,037 (GRCm39)	I193V	probably damaging	Het
Ugt1a5	A	G	1: 88,094,077 (GRCm39)	M102V	probably benign	Het
Usp38	G	A	8: 81,727,750 (GRCm39)	P328S	possibly damaging	Het
Vmn1r189	A	G	13: 22,286,285 (GRCm39)	V184A	possibly damaging	Het
Vps13d	C	A	4: 144,889,914 (GRCm39)	A597S	probably benign	Het
Wdr47	T	A	3: 108,525,840 (GRCm39)	L121Q	probably damaging	Het
Zc3h13	T	C	14: 75,568,597 (GRCm39)	S1297P	probably damaging	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het

Other mutations in Wiz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02145:Wiz	APN	17	32,575,893 (GRCm39)	missense	probably benign	0.43
IGL02176:Wiz	APN	17	32,575,876 (GRCm39)	missense	probably damaging	0.96
IGL02212:Wiz	APN	17	32,587,109 (GRCm39)	missense	probably damaging	1.00
IGL02213:Wiz	APN	17	32,586,834 (GRCm39)	missense	probably benign	0.03
IGL02616:Wiz	APN	17	32,578,443 (GRCm39)	missense	probably damaging	1.00
IGL02654:Wiz	APN	17	32,578,324 (GRCm39)	missense	probably damaging	1.00
IGL02833:Wiz	APN	17	32,576,853 (GRCm39)	missense	probably damaging	1.00
IGL03032:Wiz	APN	17	32,575,532 (GRCm39)	missense	probably benign
E0370:Wiz	UTSW	17	32,574,092 (GRCm39)	missense	probably damaging	1.00
IGL03138:Wiz	UTSW	17	32,578,093 (GRCm39)	missense	probably damaging	1.00
PIT4494001:Wiz	UTSW	17	32,580,905 (GRCm39)	missense	probably damaging	1.00
R0197:Wiz	UTSW	17	32,575,415 (GRCm39)	missense	probably damaging	1.00
R0207:Wiz	UTSW	17	32,576,007 (GRCm39)	missense	probably damaging	1.00
R0701:Wiz	UTSW	17	32,575,415 (GRCm39)	missense	probably damaging	1.00
R0883:Wiz	UTSW	17	32,575,415 (GRCm39)	missense	probably damaging	1.00
R1055:Wiz	UTSW	17	32,606,616 (GRCm39)	missense	probably damaging	0.99
R1968:Wiz	UTSW	17	32,578,346 (GRCm39)	missense	probably damaging	1.00
R2225:Wiz	UTSW	17	32,575,899 (GRCm39)	missense	probably damaging	1.00
R2423:Wiz	UTSW	17	32,580,859 (GRCm39)	missense	probably damaging	1.00
R2860:Wiz	UTSW	17	32,580,680 (GRCm39)	missense	probably damaging	1.00
R2861:Wiz	UTSW	17	32,580,680 (GRCm39)	missense	probably damaging	1.00
R3056:Wiz	UTSW	17	32,576,671 (GRCm39)	missense	probably benign	0.01
R3755:Wiz	UTSW	17	32,578,106 (GRCm39)	missense	probably damaging	1.00
R3885:Wiz	UTSW	17	32,576,012 (GRCm39)	missense	possibly damaging	0.48
R3933:Wiz	UTSW	17	32,576,872 (GRCm39)	missense	probably damaging	1.00
R4038:Wiz	UTSW	17	32,578,198 (GRCm39)	missense	probably damaging	1.00
R4118:Wiz	UTSW	17	32,588,331 (GRCm39)	utr 3 prime	probably benign
R4181:Wiz	UTSW	17	32,586,959 (GRCm39)	missense	probably damaging	1.00
R4651:Wiz	UTSW	17	32,576,655 (GRCm39)	missense	probably damaging	1.00
R4822:Wiz	UTSW	17	32,575,411 (GRCm39)	nonsense	probably null
R4891:Wiz	UTSW	17	32,576,602 (GRCm39)	missense	possibly damaging	0.85
R4923:Wiz	UTSW	17	32,580,570 (GRCm39)	missense	probably benign	0.01
R5014:Wiz	UTSW	17	32,578,340 (GRCm39)	missense	probably damaging	1.00
R5194:Wiz	UTSW	17	32,596,822 (GRCm39)	utr 3 prime	probably benign
R5254:Wiz	UTSW	17	32,597,470 (GRCm39)	splice site	probably benign
R5944:Wiz	UTSW	17	32,576,671 (GRCm39)	missense	probably benign	0.01
R6015:Wiz	UTSW	17	32,606,574 (GRCm39)	missense	probably damaging	0.99
R6263:Wiz	UTSW	17	32,579,417 (GRCm39)	splice site	probably null
R6571:Wiz	UTSW	17	32,578,298 (GRCm39)	missense	probably damaging	1.00
R6823:Wiz	UTSW	17	32,579,395 (GRCm39)	missense	probably damaging	0.99
R7014:Wiz	UTSW	17	32,580,840 (GRCm39)	missense	probably damaging	0.98
R7144:Wiz	UTSW	17	32,576,602 (GRCm39)	missense	possibly damaging	0.85
R7221:Wiz	UTSW	17	32,578,139 (GRCm39)	missense	probably benign	0.03
R7260:Wiz	UTSW	17	32,578,085 (GRCm39)	missense	probably damaging	0.99
R7453:Wiz	UTSW	17	32,598,049 (GRCm39)	missense	probably benign	0.00
R7849:Wiz	UTSW	17	32,576,760 (GRCm39)	missense	probably benign	0.26
R8686:Wiz	UTSW	17	32,586,821 (GRCm39)	missense	probably damaging	1.00
R9150:Wiz	UTSW	17	32,586,809 (GRCm39)	missense	probably benign	0.31
R9298:Wiz	UTSW	17	32,580,714 (GRCm39)	missense	probably benign
R9564:Wiz	UTSW	17	32,575,939 (GRCm39)	missense	probably benign	0.00
R9565:Wiz	UTSW	17	32,575,939 (GRCm39)	missense	probably benign	0.00
U24488:Wiz	UTSW	17	32,606,649 (GRCm39)	missense	probably damaging	1.00
X0026:Wiz	UTSW	17	32,606,732 (GRCm39)	start codon destroyed	probably null	0.94
Z1176:Wiz	UTSW	17	32,580,469 (GRCm39)	missense	probably damaging	1.00
Z1177:Wiz	UTSW	17	32,576,752 (GRCm39)	missense	possibly damaging	0.88

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