Mutagenetix > Incidental Mutations

Incidental Mutation 'R8993:Zfp426'

684550

Institutional Source

Beutler Lab

Gene Symbol

Zfp426

Ensembl Gene

ENSMUSG00000059475

Gene Name

zinc finger protein 426

Synonyms

Zfo61, Zfp68-rs1, 2900057C04Rik, KRAB1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20468549-20492746 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20475000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 62 (F62L)

Ref Sequence

ENSEMBL: ENSMUSP00000127045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080386] [ENSMUST00000115562] [ENSMUST00000163348] [ENSMUST00000163427] [ENSMUST00000164250] [ENSMUST00000164799] [ENSMUST00000164825] [ENSMUST00000166005] [ENSMUST00000167457] [ENSMUST00000168095] [ENSMUST00000169269] [ENSMUST00000169558]

AlphaFold

Q8R1D1

Predicted Effect

probably damaging
Transcript: ENSMUST00000080386
AA Change: F48L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079250
Gene: ENSMUSG00000059475
AA Change: F48L

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 damaging
Transcript: ENSMUST00000115562
AA Change: F48L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111224
Gene: ENSMUSG00000059475
AA Change: F48L

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 damaging
Transcript: ENSMUST00000163348
AA Change: F48L

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

SMART Domains

Protein: ENSMUSP00000126446
Gene: ENSMUSG00000059475
AA Change: F48L

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: ENSMUST00000164250

Predicted Effect

probably damaging
Transcript: ENSMUST00000164799
AA Change: F62L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130120
Gene: ENSMUSG00000059475
AA Change: F62L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164825
AA Change: F48L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127914
Gene: ENSMUSG00000059475
AA Change: F48L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166005
AA Change: F48L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129727
Gene: ENSMUSG00000059475
AA Change: F48L

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: ENSMUST00000167457

SMART Domains

Protein: ENSMUSP00000130945
Gene: ENSMUSG00000059475

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

probably damaging
Transcript: ENSMUST00000168095
AA Change: F48L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130309
Gene: ENSMUSG00000059475
AA Change: F48L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169269
AA Change: F48L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128843
Gene: ENSMUSG00000059475
AA Change: F48L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169558
AA Change: F62L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127045
Gene: ENSMUSG00000059475
AA Change: F62L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,703,781	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,545,267	E155*	probably null	Het
Acaa1a	A	T	9: 119,349,352		probably null	Het
Adcy4	T	C	14: 55,771,378	E864G	probably null	Het
Adcy4	T	C	14: 55,778,699	D387G	probably damaging	Het
Ank1	C	T	8: 23,098,939	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,287,038	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,448,104	Y699F	probably benign	Het
BB014433	C	T	8: 15,042,101	V251M	probably damaging	Het
Bcan	G	A	3: 87,994,222	A391V	probably benign	Het
Bod1l	A	C	5: 41,816,867	V2368G	probably benign	Het
Braf	A	G	6: 39,662,151	V222A	probably damaging	Het
Cd33	G	T	7: 43,533,447		probably benign	Het
Cdkl2	T	A	5: 92,022,151	K324N	probably damaging	Het
Celf6	A	T	9: 59,602,871	T199S	probably damaging	Het
Cmtm4	A	C	8: 104,355,166	D196E	probably benign	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451	P921H	unknown	Het
Crmp1	T	C	5: 37,242,146	M1T	probably null	Het
Dnah7a	A	T	1: 53,504,103	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,574,171	T650K	probably benign	Het
Fam24a	A	G	7: 131,336,540	D53G	probably benign	Het
Foxa2	A	T	2: 148,044,706	M69K	probably benign	Het
Gatad2a	T	A	8: 69,909,935	H601L	probably damaging	Het
Gimap4	A	C	6: 48,690,605	D98A	probably damaging	Het
Gm14295	G	T	2: 176,809,830	R371L	possibly damaging	Het
Gm5039	A	G	12: 88,321,400	F28L	probably benign	Het
Golim4	G	T	3: 75,878,128	A652E	probably benign	Het
Grid1	A	G	14: 35,026,942	I240V	probably benign	Het
Iqsec3	T	A	6: 121,413,313	T400S	unknown	Het
Itk	G	A	11: 46,334,908	R539C	probably damaging	Het
Kdelc1	G	T	1: 44,112,764	L322I	possibly damaging	Het
Kif27	T	A	13: 58,326,098	D695V	possibly damaging	Het
Krt79	T	C	15: 101,931,006		probably benign	Het
Lama2	C	A	10: 27,422,714	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,229,238	E552D	possibly damaging	Het
Mpp3	A	G	11: 102,000,665	I549T	probably benign	Het
Nat1	T	C	8: 67,491,742	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,837	K69*	probably null	Het
Nlrx1	G	T	9: 44,256,941		probably benign	Het
Pde1b	C	A	15: 103,521,425	A115E	probably benign	Het
Pde4dip	A	G	3: 97,766,494	Y369H	probably damaging	Het
Pnpla7	A	G	2: 25,053,419	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 144,272,959	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,450,044	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,407,918	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,186,535	E568V	probably benign	Het
Slc6a18	T	A	13: 73,668,271	I330F	probably benign	Het
Spesp1	T	C	9: 62,273,270	T119A	possibly damaging	Het
Sypl	G	A	12: 32,975,663	S242N	probably benign	Het
Tbx18	G	A	9: 87,730,717	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,063,926	D263V	probably damaging	Het
Trbv21	T	C	6: 41,202,990	I80T	probably damaging	Het
Ttc3	T	A	16: 94,427,808	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,817,801	D498G	possibly damaging	Het
Ttn	T	C	2: 76,753,370	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,410,341	S388R		Het
Vmn2r118	A	T	17: 55,610,835	L226I	possibly damaging	Het
Wdr46	A	G	17: 33,949,182	H576R	probably benign	Het

Other mutations in Zfp426

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:Zfp426	APN	9	20478157	start codon destroyed	possibly damaging	0.93
IGL02499:Zfp426	APN	9	20473118	splice site	probably benign
R0157:Zfp426	UTSW	9	20471136	missense	probably benign	0.00
R0356:Zfp426	UTSW	9	20471245	missense	probably benign	0.15
R0456:Zfp426	UTSW	9	20470297	missense	probably damaging	1.00
R0504:Zfp426	UTSW	9	20470031	missense	probably damaging	0.96
R2352:Zfp426	UTSW	9	20470105	missense	probably benign	0.08
R2507:Zfp426	UTSW	9	20470431	missense	probably benign	0.00
R2509:Zfp426	UTSW	9	20470681	missense	possibly damaging	0.68
R3771:Zfp426	UTSW	9	20473117	splice site	probably null
R3772:Zfp426	UTSW	9	20473117	splice site	probably null
R3773:Zfp426	UTSW	9	20473117	splice site	probably null
R3864:Zfp426	UTSW	9	20470086	missense	possibly damaging	0.88
R4649:Zfp426	UTSW	9	20470627	missense	possibly damaging	0.66
R4798:Zfp426	UTSW	9	20471014	missense	probably benign	0.17
R4863:Zfp426	UTSW	9	20470038	missense	probably damaging	1.00
R4894:Zfp426	UTSW	9	20475073	intron	probably benign
R5421:Zfp426	UTSW	9	20470719	missense	probably damaging	0.99
R6084:Zfp426	UTSW	9	20470627	missense	possibly damaging	0.66
R6610:Zfp426	UTSW	9	20473093	missense	probably damaging	1.00
R7239:Zfp426	UTSW	9	20470591	missense	probably benign	0.00
R7441:Zfp426	UTSW	9	20470851	missense	possibly damaging	0.95
R7646:Zfp426	UTSW	9	20470024	missense	probably damaging	0.98
R7827:Zfp426	UTSW	9	20470150	missense	probably damaging	1.00
R8987:Zfp426	UTSW	9	20476448	missense	probably damaging	1.00
R9043:Zfp426	UTSW	9	20475012	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAACTGTCTTATTCAGAGTTGC -3'
(R):5'- AGTCAAGTATTCCTACCACTACTCATG -3'

Sequencing Primer
(F):5'- GTTGCTATCACCACTCCTAAAATAG -3'
(R):5'- AGTAAAGCTACCTAACTCTGGTG -3'

Posted On

2021-10-11