Mutagenetix > Incidental Mutation

Incidental Mutation 'R4651:Wiz'

351334

Institutional Source

Beutler Lab

Gene Symbol

Wiz

Ensembl Gene

ENSMUSG00000024050

Gene Name

widely-interspaced zinc finger motifs

Synonyms

MMRRC Submission

041911-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32573029-32608413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32576655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 624 (R624Q)

Ref Sequence

ENSEMBL: ENSMUSP00000069443 (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: R624Q

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

SMART Domains

Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: R624Q

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: R623Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: R623Q

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

probably damaging
Transcript: ENSMUST00000169488
AA Change: R633Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126253
Gene: ENSMUSG00000024050
AA Change: R633Q

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

Meta Mutation Damage Score

0.1308

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (98/101)

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,492,787 (GRCm39)	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,591,343 (GRCm39)	V543A	probably benign	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp5f1c	A	G	2: 10,068,287 (GRCm39)	F180S	probably damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Ccnf	C	A	17: 24,450,760 (GRCm39)	R406L	probably damaging	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Cpox	G	T	16: 58,491,050 (GRCm39)	R87L	possibly damaging	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Cyp3a25	T	C	5: 145,931,701 (GRCm39)	T136A	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Ehmt2	C	A	17: 35,132,790 (GRCm39)	N1171K	probably damaging	Het
Fanci	T	A	7: 79,085,004 (GRCm39)	M838K	possibly damaging	Het
Flot1	T	C	17: 36,143,436 (GRCm39)		probably benign	Het
Gad2	A	T	2: 22,558,374 (GRCm39)	D364V	probably damaging	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,364,265 (GRCm39)	C261Y	probably damaging	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kalrn	G	T	16: 33,996,761 (GRCm39)	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,084,076 (GRCm39)	H15N	probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Lsm2	T	A	17: 35,204,571 (GRCm39)		probably benign	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25b	T	C	3: 87,834,979 (GRCm39)	H107R	probably benign	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,753,752 (GRCm39)		probably benign	Het
Ncapg2	T	A	12: 116,389,407 (GRCm39)	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070 (GRCm39)	Y187F	probably damaging	Het
Nomo1	T	A	7: 45,717,866 (GRCm39)	I799N	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Or6n2	A	G	1: 173,897,394 (GRCm39)	I177V	possibly damaging	Het
Or7g30	T	A	9: 19,352,591 (GRCm39)	C127*	probably null	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
Sdr42e1	T	C	8: 118,390,360 (GRCm39)	T94A	probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Shisa3	A	G	5: 67,765,992 (GRCm39)	D81G	probably damaging	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc5a3	T	A	16: 91,874,090 (GRCm39)	V49E	probably benign	Het
Slc9c1	A	T	16: 45,367,756 (GRCm39)	*163L	probably null	Het
Smyd3	A	G	1: 178,871,306 (GRCm39)	Y358H	probably benign	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Syne2	A	G	12: 76,036,013 (GRCm39)	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,024,633 (GRCm39)	P207Q	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Unc45a	T	C	7: 79,982,777 (GRCm39)	K383E	possibly damaging	Het
Usp7	A	C	16: 8,516,278 (GRCm39)		probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	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
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
R7051:Wiz	UTSW	17	32,580,507 (GRCm39)	missense	probably damaging	1.00
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'- CTTCTCATGGAGAGTCTTTGCC -3'
(R):5'- ACTGAGTGGTCTGTCAATGGC -3'

Sequencing Primer
(F):5'- CCTTGAAGGGCAGTTCAGTC -3'
(R):5'- AGTGGTCTGTCAATGGCTCTCC -3'

Posted On

2015-10-08