Mutagenetix > Incidental Mutation

Incidental Mutation 'R8036:Zfp90'

618249

Institutional Source

Beutler Lab

Gene Symbol

Zfp90

Ensembl Gene

ENSMUSG00000031907

Gene Name

zinc finger protein 90

Synonyms

Nk10 expressed protein, NK10, 6430515L01Rik, Zfp64, KRAB17, Zfp83

MMRRC Submission

067473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R8036 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107141959-107153230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107145760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 31 (V31M)

Ref Sequence

ENSEMBL: ENSMUSP00000034382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034382] [ENSMUST00000212606] [ENSMUST00000212874] [ENSMUST00000213045]

AlphaFold

Q61967

Predicted Effect

probably benign
Transcript: ENSMUST00000034382
AA Change: V31M

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034382
Gene: ENSMUSG00000031907
AA Change: V31M

Domain	Start	End	E-Value	Type
KRAB	14	74	4.83e-40	SMART
ZnF_C2H2	208	230	1.38e-3	SMART
ZnF_C2H2	250	272	2.75e-3	SMART
ZnF_C2H2	278	300	3.83e-2	SMART
ZnF_C2H2	306	328	1.13e-4	SMART
ZnF_C2H2	334	356	2.09e-3	SMART
ZnF_C2H2	362	384	3.16e-3	SMART
ZnF_C2H2	390	412	1.6e-4	SMART
ZnF_C2H2	446	468	1.92e-2	SMART
ZnF_C2H2	494	516	3.69e-4	SMART
ZnF_C2H2	522	544	5.59e-4	SMART
ZnF_C2H2	550	572	1.28e-3	SMART
ZnF_C2H2	578	600	1.28e-3	SMART
ZnF_C2H2	606	628	2.4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212606
AA Change: V31M

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000212874
AA Change: V31M

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213045
AA Change: V31M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc finger protein family that modulates gene expression. The encoded protein derepresses the transcription of certain fetal cardiac genes and may contribute to the genetic reprogramming that occurs during the development of heart failure. Genome wide association studies have identified this gene among ulcerative colitis risk loci. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,236,818 (GRCm39)	V1473A	possibly damaging	Het
Akap9	T	A	5: 4,120,397 (GRCm39)	C3604*	probably null	Het
Alas1	A	G	9: 106,112,721 (GRCm39)	I545T	probably benign	Het
Anpep	A	C	7: 79,491,646 (GRCm39)	D118E	probably benign	Het
Arhgef17	A	T	7: 100,579,062 (GRCm39)	S629T	probably damaging	Het
Arid2	C	T	15: 96,266,625 (GRCm39)	R558C	probably damaging	Het
Camk2n1	A	G	4: 138,184,056 (GRCm39)	D65G	probably damaging	Het
Ccdc177	T	C	12: 80,804,897 (GRCm39)	N459S	unknown	Het
Cenpe	ACTCTCT	ACTCT	3: 134,945,609 (GRCm39)		probably null	Het
Crb1	T	C	1: 139,165,122 (GRCm39)	I1062V	probably benign	Het
Decr2	A	G	17: 26,301,962 (GRCm39)	L256P	probably damaging	Het
Dhx37	T	C	5: 125,501,739 (GRCm39)	M507V	probably benign	Het
Disp1	A	G	1: 182,870,803 (GRCm39)	I539T	probably damaging	Het
Dqx1	T	A	6: 83,036,788 (GRCm39)	V264E	probably damaging	Het
Enpp4	A	G	17: 44,413,136 (GRCm39)	S133P	possibly damaging	Het
Fam149a	T	C	8: 45,802,048 (GRCm39)	T476A	probably benign	Het
Fam20b	A	G	1: 156,533,407 (GRCm39)	W70R	probably damaging	Het
Fbxl13	T	A	5: 21,728,566 (GRCm39)	N508Y	probably damaging	Het
Fjx1	A	G	2: 102,280,720 (GRCm39)	L405P	probably damaging	Het
Fn1	G	A	1: 71,629,310 (GRCm39)	Q2399*	probably null	Het
Foxa2	G	C	2: 147,885,909 (GRCm39)	T308S	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm10521	A	G	1: 171,723,752 (GRCm39)	D21G	unknown	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Herpud1	A	G	8: 95,119,014 (GRCm39)	E256G	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kctd13	A	G	7: 126,528,414 (GRCm39)	D63G	possibly damaging	Het
Lamp3	C	A	16: 19,519,809 (GRCm39)	D125Y	probably damaging	Het
Luzp2	A	G	7: 54,724,823 (GRCm39)	D128G	probably damaging	Het
Lyve1	A	G	7: 110,458,649 (GRCm39)	C105R	probably damaging	Het
Mlkl	A	T	8: 112,060,086 (GRCm39)	V100E	probably damaging	Het
Muc5b	T	C	7: 141,421,478 (GRCm39)	S4323P	possibly damaging	Het
Myoz3	T	G	18: 60,713,922 (GRCm39)		probably null	Het
Nlrp9c	T	A	7: 26,070,864 (GRCm39)	N906Y	possibly damaging	Het
Odad1	A	G	7: 45,592,276 (GRCm39)	D352G	probably benign	Het
Or10x4	A	G	1: 174,219,382 (GRCm39)	H249R	probably damaging	Het
Or51f23	A	T	7: 102,452,763 (GRCm39)	H26L	possibly damaging	Het
Or8b49	T	C	9: 38,506,186 (GRCm39)	F223S	probably benign	Het
Or8w1	C	T	2: 87,465,847 (GRCm39)	M81I	probably benign	Het
Pcsk9	G	A	4: 106,311,536 (GRCm39)	H232Y	possibly damaging	Het
Plec	A	G	15: 76,063,380 (GRCm39)	I2230T	possibly damaging	Het
Pou2f3	T	A	9: 43,058,205 (GRCm39)	T47S	probably damaging	Het
Rab8a	A	T	8: 72,928,439 (GRCm39)	I106F	probably damaging	Het
Relch	A	T	1: 105,605,902 (GRCm39)	I181F	probably damaging	Het
Ros1	A	T	10: 52,041,439 (GRCm39)	S295T	probably benign	Het
Sh3yl1	T	A	12: 30,992,098 (GRCm39)	N222K	possibly damaging	Het
Slc6a9	C	T	4: 117,725,083 (GRCm39)	A559V	possibly damaging	Het
Spata20	T	G	11: 94,369,963 (GRCm39)	I778L	probably benign	Het
Taar1	A	T	10: 23,797,033 (GRCm39)	T244S	probably benign	Het
Tmem229b	C	A	12: 79,011,862 (GRCm39)	C23F	probably damaging	Het
Ttll4	A	G	1: 74,718,389 (GRCm39)	Y80C	probably benign	Het
Ube2m	G	A	7: 12,769,566 (GRCm39)	T176I	probably benign	Het
Zfp790	G	A	7: 29,528,346 (GRCm39)	A344T	possibly damaging	Het
Zswim4	C	T	8: 84,949,918 (GRCm39)	R659Q	probably benign	Het

Other mutations in Zfp90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01753:Zfp90	APN	8	107,150,782 (GRCm39)	missense	probably benign	0.00
IGL02170:Zfp90	APN	8	107,146,156 (GRCm39)	missense	probably damaging	0.99
IGL02818:Zfp90	APN	8	107,150,841 (GRCm39)	missense	probably benign
R0378:Zfp90	UTSW	8	107,152,138 (GRCm39)	missense	possibly damaging	0.69
R0462:Zfp90	UTSW	8	107,151,892 (GRCm39)	missense	possibly damaging	0.89
R1555:Zfp90	UTSW	8	107,150,727 (GRCm39)	missense	probably benign
R1869:Zfp90	UTSW	8	107,145,755 (GRCm39)	missense	probably benign	0.00
R1870:Zfp90	UTSW	8	107,145,755 (GRCm39)	missense	probably benign	0.00
R2110:Zfp90	UTSW	8	107,152,120 (GRCm39)	missense	probably damaging	1.00
R2112:Zfp90	UTSW	8	107,152,120 (GRCm39)	missense	probably damaging	1.00
R3717:Zfp90	UTSW	8	107,150,682 (GRCm39)	missense	probably benign	0.12
R4506:Zfp90	UTSW	8	107,151,496 (GRCm39)	missense	possibly damaging	0.78
R5288:Zfp90	UTSW	8	107,152,000 (GRCm39)	missense	probably damaging	1.00
R5691:Zfp90	UTSW	8	107,151,710 (GRCm39)	nonsense	probably null
R5789:Zfp90	UTSW	8	107,150,605 (GRCm39)	missense	probably benign
R6283:Zfp90	UTSW	8	107,152,026 (GRCm39)	missense	probably damaging	1.00
R6560:Zfp90	UTSW	8	107,142,379 (GRCm39)	missense	probably damaging	0.99
R6977:Zfp90	UTSW	8	107,151,949 (GRCm39)	missense	probably damaging	0.99
R6977:Zfp90	UTSW	8	107,151,948 (GRCm39)	missense	probably damaging	1.00
R7040:Zfp90	UTSW	8	107,151,641 (GRCm39)	nonsense	probably null
R7196:Zfp90	UTSW	8	107,151,780 (GRCm39)	missense	probably damaging	0.99
R7523:Zfp90	UTSW	8	107,150,545 (GRCm39)	missense	probably benign	0.07
R7535:Zfp90	UTSW	8	107,150,900 (GRCm39)	missense	possibly damaging	0.94
R7546:Zfp90	UTSW	8	107,151,323 (GRCm39)	missense	probably benign	0.22
R7719:Zfp90	UTSW	8	107,145,725 (GRCm39)	missense	probably damaging	1.00
R8056:Zfp90	UTSW	8	107,151,112 (GRCm39)	missense	probably damaging	1.00
R9370:Zfp90	UTSW	8	107,145,791 (GRCm39)	missense	probably damaging	1.00
R9581:Zfp90	UTSW	8	107,151,714 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AAACTCGGTGCTTGAAATTAGC -3'
(R):5'- CTCAAAGCCCAGGAAAGCTG -3'

Sequencing Primer
(F):5'- TTAGCATACAAAACCAAACCTTGC -3'
(R):5'- GCTGGCTCCCCAAAACAGG -3'

Posted On

2020-01-23