Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Zfp426'

482397

Institutional Source

Beutler Lab

Gene Symbol

Zfp426

Ensembl Gene

ENSMUSG00000059475

Gene Name

zinc finger protein 426

Synonyms

Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik

MMRRC Submission

044243-MU

Accession Numbers

Essential gene?

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

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20379845-20404042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20381923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 341 (Q341K)

Ref Sequence

ENSEMBL: ENSMUSP00000129727 (fasta)

Gene Model

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

AlphaFold

Q8R1D1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080386
AA Change: Q341K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079250
Gene: ENSMUSG00000059475
AA Change: Q341K

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

possibly damaging
Transcript: ENSMUST00000115562
AA Change: Q341K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111224
Gene: ENSMUSG00000059475
AA Change: Q341K

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: Q340K

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126446
Gene: ENSMUSG00000059475
AA Change: Q340K

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

possibly damaging
Transcript: ENSMUST00000166005
AA Change: Q341K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129727
Gene: ENSMUSG00000059475
AA Change: Q341K

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
AA Change: Q274K

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130945
Gene: ENSMUSG00000059475
AA Change: Q274K

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

possibly damaging
Transcript: ENSMUST00000169558
AA Change: Q355K

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127045
Gene: ENSMUSG00000059475
AA Change: Q355K

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

noncoding transcript
Transcript: ENSMUST00000166465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180846

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,828,297 (GRCm39)	D958G	possibly damaging	Het
Bag4	T	C	8: 26,261,259 (GRCm39)	T161A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,374,720 (GRCm39)		probably null	Het
Cass4	G	T	2: 172,268,832 (GRCm39)	A307S	probably benign	Het
Cbln4	A	T	2: 171,884,016 (GRCm39)	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,826,015 (GRCm39)	N2K	probably benign	Het
Ccnf	T	A	17: 24,450,811 (GRCm39)	D389V	probably damaging	Het
Cdipt	T	C	7: 126,578,773 (GRCm39)	S161P	probably benign	Het
Ceacam19	T	C	7: 19,616,812 (GRCm39)	I161V	probably benign	Het
Cfap65	A	G	1: 74,959,564 (GRCm39)	I862T	probably damaging	Het
Cfi	T	A	3: 129,652,019 (GRCm39)	L230Q	probably benign	Het
Chac2	G	A	11: 30,936,159 (GRCm39)	R30W	probably damaging	Het
Cmc2	G	A	8: 117,616,566 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,505,840 (GRCm39)	M1L	probably benign	Het
Cox8a	C	A	19: 7,194,783 (GRCm39)	R32L	possibly damaging	Het
Cubn	T	A	2: 13,435,708 (GRCm39)	N1083Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,504 (GRCm39)	D132G	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,527,212 (GRCm39)	D358G	probably benign	Het
Dysf	T	A	6: 83,996,586 (GRCm39)	F29L	probably damaging	Het
Dysf	T	C	6: 84,089,101 (GRCm39)	L888P	probably damaging	Het
Ebf4	A	G	2: 130,151,643 (GRCm39)	D277G	probably damaging	Het
Ecm2	T	A	13: 49,668,570 (GRCm39)	L91*	probably null	Het
Foxs1	T	C	2: 152,774,762 (GRCm39)	D97G	possibly damaging	Het
Frs2	A	C	10: 116,912,714 (GRCm39)		probably null	Het
Grp	A	T	18: 66,013,008 (GRCm39)	D58V	probably damaging	Het
Hif1a	T	G	12: 73,988,616 (GRCm39)	F537C	probably damaging	Het
Icam4	G	A	9: 20,940,835 (GRCm39)	S29N	probably benign	Het
Itfg1	T	C	8: 86,452,799 (GRCm39)	E523G	probably benign	Het
Jph2	T	C	2: 163,217,600 (GRCm39)	K359E	probably damaging	Het
Katnip	G	A	7: 125,414,037 (GRCm39)	G394R	probably benign	Het
Kcnq2	A	T	2: 180,729,449 (GRCm39)	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,257,795 (GRCm39)	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,737,721 (GRCm39)	Y197C	probably benign	Het
Lrp1	T	C	10: 127,396,422 (GRCm39)	N2381D	probably benign	Het
Man1a	A	T	10: 53,795,307 (GRCm39)	W649R	probably damaging	Het
Map4	T	C	9: 109,893,360 (GRCm39)	L542P	probably damaging	Het
Mboat2	A	T	12: 24,928,284 (GRCm39)	H52L	probably damaging	Het
Mok	C	G	12: 110,781,380 (GRCm39)	S91T	probably benign	Het
Mtmr11	G	T	3: 96,075,400 (GRCm39)	R360L	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncoa4-ps	A	G	12: 119,225,386 (GRCm39)		noncoding transcript	Het
Or1j13	A	G	2: 36,369,524 (GRCm39)	V206A	probably benign	Het
Or4g7	A	T	2: 111,309,734 (GRCm39)	N202Y	probably damaging	Het
Or52z1	C	T	7: 103,437,162 (GRCm39)	M107I	probably benign	Het
Or55b4	T	C	7: 102,133,596 (GRCm39)	T244A	probably damaging	Het
Or7d11	A	T	9: 19,966,179 (GRCm39)	H75Q	possibly damaging	Het
Or7g21	A	G	9: 19,032,623 (GRCm39)	D121G	probably damaging	Het
Padi3	G	T	4: 140,523,154 (GRCm39)	T292N	probably damaging	Het
Pard6g	A	C	18: 80,160,420 (GRCm39)	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,740,726 (GRCm39)	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,819,289 (GRCm39)	T398I	probably damaging	Het
Prickle2	A	T	6: 92,393,829 (GRCm39)	C225*	probably null	Het
Prmt2	G	A	10: 76,046,278 (GRCm39)	T317I	probably benign	Het
Psg22	T	G	7: 18,453,705 (GRCm39)	N172K	probably benign	Het
Ptpn9	C	T	9: 56,940,447 (GRCm39)	R196*	probably null	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,026,622 (GRCm39)		probably null	Het
Rlf	A	T	4: 121,006,412 (GRCm39)	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,616,255 (GRCm39)	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007 (GRCm39)	E636G	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,738,838 (GRCm39)	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,680,110 (GRCm39)	M102V	probably benign	Het
Slc34a2	T	A	5: 53,224,989 (GRCm39)	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,492,496 (GRCm39)	V293A	probably benign	Het
Spidr	A	T	16: 15,957,888 (GRCm39)	S80T	possibly damaging	Het
Syne1	C	T	10: 5,298,994 (GRCm39)	E1031K	probably damaging	Het
Synj2	G	A	17: 6,067,889 (GRCm39)	V121I	probably damaging	Het
Synj2	A	T	17: 6,088,373 (GRCm39)	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,895,543 (GRCm39)	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,861,164 (GRCm39)	I986F	probably benign	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Ttll10	T	A	4: 156,129,814 (GRCm39)	D283V	probably benign	Het
Ttn	T	A	2: 76,645,123 (GRCm39)	K673*	probably null	Het
Ubqlnl	T	A	7: 103,797,905 (GRCm39)	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,832,721 (GRCm39)	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,024,467 (GRCm39)	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,366,205 (GRCm39)	Q243L	probably damaging	Het
Wdr24	C	A	17: 26,043,504 (GRCm39)	R109S	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp616	A	T	11: 73,974,672 (GRCm39)	K314*	probably null	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
R0157:Zfp426	UTSW	9	20,382,432 (GRCm39)	missense	probably benign	0.00
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
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'- GCAAAGGCTTTCCCACATTT -3'
(R):5'- TGAGCCAGTCACACCTTCAG -3'

Posted On

2017-07-14