Mutagenetix > Incidental Mutation

Incidental Mutation 'R6283:Zfp90'

508058

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

044453-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R6283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107141959-107153230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107152026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 580 (C580R)

Ref Sequence

ENSEMBL: ENSMUSP00000148744 (fasta)

Gene Model

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

AlphaFold

Q61967

Predicted Effect

probably damaging
Transcript: ENSMUST00000034382
AA Change: C580R

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

SMART Domains

Protein: ENSMUSP00000034382
Gene: ENSMUSG00000031907
AA Change: C580R

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

noncoding transcript
Transcript: ENSMUST00000180410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211958

Predicted Effect

probably benign
Transcript: ENSMUST00000212606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212866

Predicted Effect

probably damaging
Transcript: ENSMUST00000212874
AA Change: C580R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213045

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	C	A	8: 123,512,694 (GRCm39)	R372S	probably damaging	Het
Adamts20	A	G	15: 94,249,602 (GRCm39)	S472P	probably benign	Het
Bhlhe40	T	C	6: 108,641,992 (GRCm39)	L312P	probably damaging	Het
Ccdc180	A	G	4: 45,902,486 (GRCm39)	E305G	possibly damaging	Het
Ccdc83	T	A	7: 89,885,615 (GRCm39)	R257*	probably null	Het
Cd209e	G	A	8: 3,899,212 (GRCm39)	Q167*	probably null	Het
Cd300e	G	A	11: 114,945,380 (GRCm39)	T138I	probably benign	Het
Ces2c	A	T	8: 105,576,331 (GRCm39)	M115L	probably benign	Het
Cfap61	T	A	2: 145,971,022 (GRCm39)		probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cic	C	T	7: 24,985,459 (GRCm39)	S301L	probably damaging	Het
Cks2	A	G	13: 51,799,495 (GRCm39)	H16R	probably benign	Het
Copa	A	T	1: 171,946,415 (GRCm39)	H953L	possibly damaging	Het
Ctdsp2	T	C	10: 126,831,749 (GRCm39)	V145A	possibly damaging	Het
Cyp2j13	A	G	4: 95,945,074 (GRCm39)	V377A	possibly damaging	Het
Dhx57	A	G	17: 80,582,234 (GRCm39)	V404A	probably benign	Het
Dock2	T	C	11: 34,598,152 (GRCm39)	S340G	probably damaging	Het
Ggps1	A	G	13: 14,232,379 (GRCm39)		probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11444	T	C	11: 85,737,617 (GRCm39)		probably null	Het
Grina	A	G	15: 76,132,751 (GRCm39)	T173A	possibly damaging	Het
Hcrtr1	G	A	4: 130,029,133 (GRCm39)	T223I	probably benign	Het
Igsf10	T	A	3: 59,226,870 (GRCm39)	T2268S	probably damaging	Het
Inhca	G	A	9: 103,159,834 (GRCm39)	R14*	probably null	Het
Ino80d	C	T	1: 63,101,285 (GRCm39)	R447Q	probably damaging	Het
Inpp4b	C	T	8: 82,497,462 (GRCm39)	T94M	probably damaging	Het
Itga2	A	G	13: 115,005,786 (GRCm39)	Y465H	probably damaging	Het
Knl1	A	G	2: 118,900,767 (GRCm39)	T823A	probably damaging	Het
Krtap4-16	A	G	11: 99,741,861 (GRCm39)	S180P	unknown	Het
Ldc1	A	G	4: 130,115,534 (GRCm39)	S5P	probably benign	Het
Lpar6	A	T	14: 73,476,297 (GRCm39)	D86V	probably damaging	Het
Muc5ac	C	A	7: 141,370,601 (GRCm39)	C2500*	probably null	Het
Mzf1	T	C	7: 12,787,296 (GRCm39)		probably benign	Het
Or4f58	A	C	2: 111,851,605 (GRCm39)	M198R	possibly damaging	Het
Or5d46	T	A	2: 88,170,002 (GRCm39)	I31N	probably benign	Het
Or5m3	G	T	2: 85,838,443 (GRCm39)	V108L	possibly damaging	Het
Or7a36	T	C	10: 78,820,113 (GRCm39)	V163A	probably benign	Het
Otogl	T	G	10: 107,626,361 (GRCm39)	E1501A	probably damaging	Het
Pcdh10	T	A	3: 45,335,989 (GRCm39)	S768T	possibly damaging	Het
Pcnx2	G	T	8: 126,604,325 (GRCm39)	Q644K	probably damaging	Het
Pdzd9	T	A	7: 120,259,449 (GRCm39)	I180F	possibly damaging	Het
Pinx1	A	C	14: 64,115,621 (GRCm39)	N152T	probably benign	Het
Prr14l	T	C	5: 32,987,608 (GRCm39)	E629G	probably benign	Het
Qpctl	T	A	7: 18,882,345 (GRCm39)	I104F	probably benign	Het
Rabep1	C	T	11: 70,808,505 (GRCm39)	A444V	probably damaging	Het
Rnf150	A	G	8: 83,717,183 (GRCm39)	Y230C	probably damaging	Het
Slc25a27	A	C	17: 43,968,621 (GRCm39)	V152G	probably damaging	Het
Swt1	A	G	1: 151,260,084 (GRCm39)	S772P	possibly damaging	Het
Tenm4	A	G	7: 96,523,701 (GRCm39)	T1711A	probably benign	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tmem265	T	G	7: 127,164,044 (GRCm39)	V86G	possibly damaging	Het
Trpm8	C	T	1: 88,276,054 (GRCm39)	H551Y	probably benign	Het
Ttc6	T	G	12: 57,749,048 (GRCm39)	Y1327D	possibly damaging	Het
Uevld	G	T	7: 46,587,729 (GRCm39)	Q324K	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r73	C	T	7: 85,521,049 (GRCm39)	M306I	probably benign	Het
Vmn2r93	T	A	17: 18,524,366 (GRCm39)	M120K	probably benign	Het
Zfp804b	T	A	5: 6,819,908 (GRCm39)	I1016F	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
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
R8036:Zfp90	UTSW	8	107,145,760 (GRCm39)	missense	probably benign	0.21
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'- ACCCTTCTTGGTCAGCAGTC -3'
(R):5'- TCCTGCAGTTTATTCCGGG -3'

Sequencing Primer
(F):5'- ACCCTATCAGTGCAACGTATGTGG -3'
(R):5'- CAGTTTATTCCGGGCGTGAACTC -3'

Posted On

2018-03-15