Mutagenetix > Incidental Mutation

Incidental Mutation 'R0157:Zfp426'

22920

Institutional Source

Beutler Lab

Gene Symbol

Zfp426

Ensembl Gene

ENSMUSG00000059475

Gene Name

zinc finger protein 426

Synonyms

Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik

MMRRC Submission

038437-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0157 (G1)

Quality Score

170

Status

Validated (trace)

Chromosome

Chromosomal Location

20379845-20404042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20382432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 171 (N171S)

Ref Sequence

ENSEMBL: ENSMUSP00000129727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080386] [ENSMUST00000115562] [ENSMUST00000163348] [ENSMUST00000163427] [ENSMUST00000164799] [ENSMUST00000164825] [ENSMUST00000166005] [ENSMUST00000169558] [ENSMUST00000167457] [ENSMUST00000169269] [ENSMUST00000168095]

AlphaFold

Q8R1D1

Predicted Effect

probably benign
Transcript: ENSMUST00000080386
AA Change: N171S

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

SMART Domains

Protein: ENSMUSP00000079250
Gene: ENSMUSG00000059475
AA Change: N171S

Domain	Start	End	E-Value	Type
KRAB	39	99	5.56e-31	SMART
ZnF_C2H2	219	241	2.12e-4	SMART
ZnF_C2H2	274	296	1.69e-3	SMART
ZnF_C2H2	302	324	8.81e-2	SMART
ZnF_C2H2	330	352	5.59e-4	SMART
ZnF_C2H2	358	380	3.16e-3	SMART
ZnF_C2H2	386	408	1.43e-1	SMART
ZnF_C2H2	414	436	1.79e-2	SMART
ZnF_C2H2	442	464	1.22e-4	SMART
ZnF_C2H2	470	492	1.38e-3	SMART
ZnF_C2H2	498	520	3.58e-2	SMART
ZnF_C2H2	528	550	3.44e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115562
AA Change: N171S

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

SMART Domains

Protein: ENSMUSP00000111224
Gene: ENSMUSG00000059475
AA Change: N171S

Domain	Start	End	E-Value	Type
KRAB	39	99	5.56e-31	SMART
ZnF_C2H2	219	241	2.12e-4	SMART
ZnF_C2H2	274	296	1.69e-3	SMART
ZnF_C2H2	302	324	8.81e-2	SMART
ZnF_C2H2	330	352	5.59e-4	SMART
ZnF_C2H2	358	380	3.16e-3	SMART
ZnF_C2H2	386	408	1.43e-1	SMART
ZnF_C2H2	414	436	1.79e-2	SMART
ZnF_C2H2	442	464	1.22e-4	SMART
ZnF_C2H2	470	492	1.38e-3	SMART
ZnF_C2H2	498	520	3.58e-2	SMART
ZnF_C2H2	528	550	3.44e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163348
AA Change: N170S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126446
Gene: ENSMUSG00000059475
AA Change: N170S

Domain	Start	End	E-Value	Type
KRAB	39	99	5.56e-31	SMART
ZnF_C2H2	218	240	2.12e-4	SMART
ZnF_C2H2	273	295	1.69e-3	SMART
ZnF_C2H2	301	323	8.81e-2	SMART
ZnF_C2H2	329	351	5.59e-4	SMART
ZnF_C2H2	357	379	3.16e-3	SMART
ZnF_C2H2	385	407	1.43e-1	SMART
ZnF_C2H2	413	435	1.79e-2	SMART
ZnF_C2H2	441	463	1.22e-4	SMART
ZnF_C2H2	469	491	1.38e-3	SMART
ZnF_C2H2	497	519	3.58e-2	SMART
ZnF_C2H2	527	549	3.44e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163427

Predicted Effect

probably benign
Transcript: ENSMUST00000164799

SMART Domains

Protein: ENSMUSP00000130120
Gene: ENSMUSG00000059475

Domain	Start	End	E-Value	Type
KRAB	53	93	1.2e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164825

SMART Domains

Protein: ENSMUSP00000127914
Gene: ENSMUSG00000059475

Domain	Start	End	E-Value	Type
KRAB	39	99	5.56e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166005
AA Change: N171S

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

SMART Domains

Protein: ENSMUSP00000129727
Gene: ENSMUSG00000059475
AA Change: N171S

Domain	Start	End	E-Value	Type
KRAB	39	99	5.56e-31	SMART
ZnF_C2H2	219	241	2.12e-4	SMART
ZnF_C2H2	274	296	1.69e-3	SMART
ZnF_C2H2	302	324	8.81e-2	SMART
ZnF_C2H2	330	352	5.59e-4	SMART
ZnF_C2H2	358	380	3.16e-3	SMART
ZnF_C2H2	386	408	1.43e-1	SMART
ZnF_C2H2	414	436	1.79e-2	SMART
ZnF_C2H2	442	464	1.22e-4	SMART
ZnF_C2H2	470	492	1.38e-3	SMART
ZnF_C2H2	498	520	3.58e-2	SMART
ZnF_C2H2	528	550	3.44e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169558
AA Change: N185S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127045
Gene: ENSMUSG00000059475
AA Change: N185S

Domain	Start	End	E-Value	Type
KRAB	53	113	5.56e-31	SMART
ZnF_C2H2	233	255	2.12e-4	SMART
ZnF_C2H2	288	310	1.69e-3	SMART
ZnF_C2H2	316	338	8.81e-2	SMART
ZnF_C2H2	344	366	5.59e-4	SMART
ZnF_C2H2	372	394	3.16e-3	SMART
ZnF_C2H2	400	422	1.43e-1	SMART
ZnF_C2H2	428	450	1.79e-2	SMART
ZnF_C2H2	456	478	1.22e-4	SMART
ZnF_C2H2	484	506	1.38e-3	SMART
ZnF_C2H2	512	534	3.58e-2	SMART
ZnF_C2H2	542	564	3.44e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167457
AA Change: N104S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130945
Gene: ENSMUSG00000059475
AA Change: N104S

Domain	Start	End	E-Value	Type
KRAB	1	32	1.46e0	SMART
ZnF_C2H2	152	174	2.12e-4	SMART
ZnF_C2H2	207	229	1.69e-3	SMART
ZnF_C2H2	235	257	8.81e-2	SMART
ZnF_C2H2	263	285	5.59e-4	SMART
ZnF_C2H2	291	313	3.16e-3	SMART
ZnF_C2H2	319	341	1.43e-1	SMART
ZnF_C2H2	347	369	1.79e-2	SMART
ZnF_C2H2	375	397	1.22e-4	SMART
ZnF_C2H2	403	425	1.38e-3	SMART
ZnF_C2H2	431	453	3.58e-2	SMART
ZnF_C2H2	461	483	3.44e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166465

Predicted Effect

probably benign
Transcript: ENSMUST00000169269

SMART Domains

Protein: ENSMUSP00000128843
Gene: ENSMUSG00000059475

Domain	Start	End	E-Value	Type
KRAB	39	69	7.16e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168095

SMART Domains

Protein: ENSMUSP00000130309
Gene: ENSMUSG00000059475

Domain	Start	End	E-Value	Type
KRAB	39	83	1.37e-12	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.5%

Validation Efficiency

64% (47/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kaposi's sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this gene is a zinc finger transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce degradation of this protein through the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	A	11: 80,056,527 (GRCm39)	I180N	probably damaging	Het
Alk	T	A	17: 72,256,840 (GRCm39)	N673I	probably benign	Het
Ankrd7	T	C	6: 18,866,539 (GRCm39)	S20P	probably damaging	Het
Arhgef26	T	G	3: 62,288,392 (GRCm39)	D487E	probably damaging	Het
Arhgef4	A	G	1: 34,845,475 (GRCm39)	D1500G	probably damaging	Het
Arhgef7	A	G	8: 11,835,812 (GRCm39)	I39V	probably damaging	Het
Asap2	T	A	12: 21,256,326 (GRCm39)	I208N	probably damaging	Het
Atad5	T	C	11: 79,980,643 (GRCm39)	V16A	possibly damaging	Het
Atp2b1	T	C	10: 98,835,809 (GRCm39)	I518T	probably damaging	Het
B130006D01Rik	T	C	11: 95,617,211 (GRCm39)		probably benign	Het
BC028528	A	G	3: 95,792,280 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,745,886 (GRCm39)	L74Q	probably benign	Het
Bptf	T	C	11: 106,965,484 (GRCm39)	T1122A	possibly damaging	Het
Cacna2d4	T	A	6: 119,289,385 (GRCm39)	D806E	probably benign	Het
Cdhr3	T	C	12: 33,111,649 (GRCm39)	Q287R	possibly damaging	Het
Cdk12	A	G	11: 98,140,602 (GRCm39)		probably benign	Het
Cenpf	T	A	1: 189,384,556 (GRCm39)	T2575S	probably benign	Het
Chd7	T	A	4: 8,833,759 (GRCm39)	I1171N	probably damaging	Het
Chd9	T	C	8: 91,735,464 (GRCm39)		probably null	Het
Ckmt1	A	G	2: 121,193,522 (GRCm39)	T361A	possibly damaging	Het
Clec4d	G	T	6: 123,244,095 (GRCm39)	R68L	probably benign	Het
Csmd2	G	T	4: 128,415,704 (GRCm39)	V2678F	probably benign	Het
Cul7	T	A	17: 46,964,761 (GRCm39)	V131E	possibly damaging	Het
Dab2	T	C	15: 6,459,308 (GRCm39)	S407P	probably benign	Het
Dnah17	C	T	11: 118,017,997 (GRCm39)	G166D	probably benign	Het
F13b	G	A	1: 139,431,585 (GRCm39)	V52I	probably benign	Het
Gjd4	T	C	18: 9,280,549 (GRCm39)	I176M	probably benign	Het
Hoxc11	A	G	15: 102,863,436 (GRCm39)	Y159C	probably damaging	Het
Hydin	T	C	8: 111,026,642 (GRCm39)	I120T	possibly damaging	Het
Il20rb	A	G	9: 100,355,132 (GRCm39)	Y104H	probably damaging	Het
Krtap21-1	A	G	16: 89,200,430 (GRCm39)	C71R	unknown	Het
Lamc1	T	C	1: 153,138,353 (GRCm39)	D167G	probably benign	Het
Lin7c	C	A	2: 109,725,514 (GRCm39)	A73E	probably damaging	Het
Meiosin	T	C	7: 18,840,945 (GRCm39)	H63R	possibly damaging	Het
Mms22l	C	A	4: 24,588,224 (GRCm39)	A952E	probably damaging	Het
Myh3	A	G	11: 66,973,735 (GRCm39)	N136S	probably benign	Het
Ndufb10	T	C	17: 24,943,218 (GRCm39)	T31A	probably benign	Het
Nlrp2	T	C	7: 5,311,769 (GRCm39)	Y37C	possibly damaging	Het
Or2t44	T	C	11: 58,677,885 (GRCm39)	F275S	probably damaging	Het
Or2y14	T	C	11: 49,404,600 (GRCm39)	I45T	probably damaging	Het
Orc3	C	A	4: 34,607,130 (GRCm39)		probably null	Het
Pard3b	A	C	1: 62,250,792 (GRCm39)	M512L	probably damaging	Het
Pcdh10	A	G	3: 45,334,136 (GRCm39)	D150G	probably damaging	Het
Pcolce	A	T	5: 137,608,741 (GRCm39)		probably null	Het
Pdcl	A	C	2: 37,242,189 (GRCm39)	I187S	probably damaging	Het
Pkn1	T	C	8: 84,419,449 (GRCm39)	I51M	probably damaging	Het
Pla2g4e	T	A	2: 120,000,662 (GRCm39)	T692S	probably benign	Het
Plcb2	C	A	2: 118,549,022 (GRCm39)	V380F	probably damaging	Het
Pmpcb	A	T	5: 21,947,950 (GRCm39)	I218F	probably damaging	Het
Pms1	A	T	1: 53,234,196 (GRCm39)	Y773*	probably null	Het
Polr2e	C	T	10: 79,872,615 (GRCm39)	G184R	probably damaging	Het
Polr3a	T	C	14: 24,529,254 (GRCm39)	I369V	probably damaging	Het
Pramel21	C	T	4: 143,342,366 (GRCm39)	P158S	probably damaging	Het
Prpf4b	T	C	13: 35,068,014 (GRCm39)		probably benign	Het
Pzp	G	A	6: 128,500,939 (GRCm39)	Q140*	probably null	Het
Qrich2	T	A	11: 116,332,221 (GRCm39)	E2325V	probably damaging	Het
R3hdm2	T	G	10: 127,307,858 (GRCm39)	L373R	probably damaging	Het
Sema3d	A	T	5: 12,558,104 (GRCm39)	D212V	possibly damaging	Het
Sidt2	A	G	9: 45,850,565 (GRCm39)	I850T	probably damaging	Het
Slc22a29	C	T	19: 8,140,106 (GRCm39)	R433H	possibly damaging	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Sox21	G	A	14: 118,473,354 (GRCm39)		probably benign	Het
Steap3	A	G	1: 120,155,379 (GRCm39)	*527R	probably null	Het
Svep1	T	C	4: 58,069,830 (GRCm39)	E2652G	possibly damaging	Het
Taar2	T	A	10: 23,817,389 (GRCm39)	F310I	probably damaging	Het
Tasor2	C	A	13: 3,625,550 (GRCm39)	V1467L	probably benign	Het
Tecta	A	G	9: 42,286,307 (GRCm39)	V783A	probably benign	Het
Vmn1r173	T	A	7: 23,401,822 (GRCm39)	I19N	probably damaging	Het
Vwa5b1	T	A	4: 138,332,190 (GRCm39)	M276L	probably benign	Het
Yeats2	A	C	16: 20,040,427 (GRCm39)	*142C	probably null	Het
Zfp26	G	T	9: 20,349,166 (GRCm39)	T466K	probably benign	Het

Other mutations in Zfp426

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:Zfp426	APN	9	20,389,453 (GRCm39)	start codon destroyed	possibly damaging	0.93
IGL02499:Zfp426	APN	9	20,384,414 (GRCm39)	splice site	probably benign
R0356:Zfp426	UTSW	9	20,382,541 (GRCm39)	missense	probably benign	0.15
R0456:Zfp426	UTSW	9	20,381,593 (GRCm39)	missense	probably damaging	1.00
R0504:Zfp426	UTSW	9	20,381,327 (GRCm39)	missense	probably damaging	0.96
R2352:Zfp426	UTSW	9	20,381,401 (GRCm39)	missense	probably benign	0.08
R2507:Zfp426	UTSW	9	20,381,727 (GRCm39)	missense	probably benign	0.00
R2509:Zfp426	UTSW	9	20,381,977 (GRCm39)	missense	possibly damaging	0.68
R3771:Zfp426	UTSW	9	20,384,413 (GRCm39)	splice site	probably null
R3772:Zfp426	UTSW	9	20,384,413 (GRCm39)	splice site	probably null
R3773:Zfp426	UTSW	9	20,384,413 (GRCm39)	splice site	probably null
R3864:Zfp426	UTSW	9	20,381,382 (GRCm39)	missense	possibly damaging	0.88
R4649:Zfp426	UTSW	9	20,381,923 (GRCm39)	missense	possibly damaging	0.66
R4798:Zfp426	UTSW	9	20,382,310 (GRCm39)	missense	probably benign	0.17
R4863:Zfp426	UTSW	9	20,381,334 (GRCm39)	missense	probably damaging	1.00
R4894:Zfp426	UTSW	9	20,386,369 (GRCm39)	intron	probably benign
R5421:Zfp426	UTSW	9	20,382,015 (GRCm39)	missense	probably damaging	0.99
R6084:Zfp426	UTSW	9	20,381,923 (GRCm39)	missense	possibly damaging	0.66
R6610:Zfp426	UTSW	9	20,384,389 (GRCm39)	missense	probably damaging	1.00
R7239:Zfp426	UTSW	9	20,381,887 (GRCm39)	missense	probably benign	0.00
R7441:Zfp426	UTSW	9	20,382,147 (GRCm39)	missense	possibly damaging	0.95
R7646:Zfp426	UTSW	9	20,381,320 (GRCm39)	missense	probably damaging	0.98
R7827:Zfp426	UTSW	9	20,381,446 (GRCm39)	missense	probably damaging	1.00
R8987:Zfp426	UTSW	9	20,387,744 (GRCm39)	missense	probably damaging	1.00
R8993:Zfp426	UTSW	9	20,386,296 (GRCm39)	missense	probably damaging	1.00
R9043:Zfp426	UTSW	9	20,386,308 (GRCm39)	missense	probably damaging	1.00
R9450:Zfp426	UTSW	9	20,381,577 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GACTGGCTCATAAAGGACTTCCCAC -3'
(R):5'- TGTGCAATGAACCTCACTGCTCC -3'

Sequencing Primer
(F):5'- cccacagtcgctgcattc -3'
(R):5'- AAAGCACATCTTTTTCTTGGAGTGG -3'

Posted On

2013-04-16