Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02170:Zfp90'

282898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp90

Ensembl Gene

ENSMUSG00000031907

Gene Name

zinc finger protein 90

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL02170

Quality Score

Status

Chromosome

Chromosomal Location

107141959-107153230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107146156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 57 (V57A)

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: V57A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034382
Gene: ENSMUSG00000031907
AA Change: V57A

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 damaging
Transcript: ENSMUST00000212606
AA Change: V57A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212866

Predicted Effect

probably damaging
Transcript: ENSMUST00000212874
AA Change: V57A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000213045

Coding Region Coverage

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 16,936,196 (GRCm39)	P176L	probably damaging	Het
4932414N04Rik	A	G	2: 68,561,467 (GRCm39)	M265V	probably benign	Het
A2ml1	T	C	6: 128,524,173 (GRCm39)	E1153G	possibly damaging	Het
Adam22	T	C	5: 8,184,845 (GRCm39)	T452A	probably benign	Het
Ambra1	A	G	2: 91,597,432 (GRCm39)	T56A	possibly damaging	Het
Atp1a4	A	G	1: 172,062,103 (GRCm39)	V674A	possibly damaging	Het
Ccnb1	A	T	13: 100,919,994 (GRCm39)	Y172*	probably null	Het
Chrdl2	A	T	7: 99,683,821 (GRCm39)	T416S	possibly damaging	Het
Col6a5	A	G	9: 105,805,621 (GRCm39)	L1095P	unknown	Het
Dhx16	T	C	17: 36,200,361 (GRCm39)	C901R	probably damaging	Het
Dip2c	A	G	13: 9,656,371 (GRCm39)	T732A	probably benign	Het
Dnah12	A	C	14: 26,495,069 (GRCm39)	I1376L	probably damaging	Het
Dock2	A	T	11: 34,217,949 (GRCm39)	L1207Q	probably damaging	Het
Eif2ak1	A	T	5: 143,816,278 (GRCm39)	H192L	probably benign	Het
Evi5	T	A	5: 107,969,750 (GRCm39)	T54S	probably benign	Het
Fam151a	T	C	4: 106,592,795 (GRCm39)		probably null	Het
Fam98a	C	T	17: 75,847,187 (GRCm39)		probably null	Het
Frmd4a	G	A	2: 4,570,988 (GRCm39)	R306K	probably damaging	Het
Fxyd7	C	A	7: 30,744,432 (GRCm39)	V28L	possibly damaging	Het
Gabrb1	T	A	5: 72,294,073 (GRCm39)	I449K	probably damaging	Het
Gkn3	G	T	6: 87,360,493 (GRCm39)	D167E	possibly damaging	Het
Gm14496	A	T	2: 181,638,144 (GRCm39)	Y406F	probably damaging	Het
Gm8603	T	A	17: 13,737,073 (GRCm39)		noncoding transcript	Het
Hecw1	T	C	13: 14,438,743 (GRCm39)	N880S	possibly damaging	Het
Hivep2	C	A	10: 14,003,548 (GRCm39)	Q49K	possibly damaging	Het
Hscb	T	A	5: 110,987,492 (GRCm39)	S35C	probably damaging	Het
Hspa12a	T	G	19: 58,793,113 (GRCm39)	K357N	probably benign	Het
Kcnu1	A	T	8: 26,427,588 (GRCm39)	I302F	probably damaging	Het
Krtap5-3	T	A	7: 141,756,215 (GRCm39)	C351S	unknown	Het
Mvd	A	G	8: 123,164,747 (GRCm39)	V142A	probably benign	Het
Myo1f	A	T	17: 33,797,246 (GRCm39)	I143L	probably benign	Het
Ncoa7	T	A	10: 30,565,849 (GRCm39)	E599D	possibly damaging	Het
Nfasc	A	T	1: 132,538,104 (GRCm39)	C495*	probably null	Het
Nfx1	G	A	4: 41,018,019 (GRCm39)	G920E	probably damaging	Het
Nlrp4g	T	G	9: 124,348,980 (GRCm38)		noncoding transcript	Het
Nup85	T	A	11: 115,468,757 (GRCm39)	V200E	probably damaging	Het
Or2z2	T	A	11: 58,345,906 (GRCm39)	I290F	probably damaging	Het
Or5an1c	T	C	19: 12,218,120 (GRCm39)	M302V	probably benign	Het
Pask	T	C	1: 93,238,606 (GRCm39)	Q1293R	possibly damaging	Het
Ppfia2	T	A	10: 106,636,646 (GRCm39)	S232T	probably benign	Het
Prr12	G	A	7: 44,695,612 (GRCm39)	R1285W	unknown	Het
Rimoc1	C	T	15: 4,015,848 (GRCm39)	V239I	probably benign	Het
Rxylt1	A	T	10: 121,930,548 (GRCm39)	D126E	probably damaging	Het
Slc1a1	T	A	19: 28,880,153 (GRCm39)	F278I	possibly damaging	Het
Sos1	G	T	17: 80,705,719 (GRCm39)	T1284N	probably damaging	Het
Sp2	T	A	11: 96,847,036 (GRCm39)	Q475L	probably damaging	Het
Spmip2	C	A	3: 79,356,741 (GRCm39)		probably benign	Het
Spmip2	C	A	3: 79,356,742 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,444,917 (GRCm39)	T2134S	possibly damaging	Het
Tbx1	C	A	16: 18,401,552 (GRCm39)	A300S	probably benign	Het
Uap1	A	C	1: 169,994,281 (GRCm39)	V65G	probably benign	Het
Ubr2	G	A	17: 47,278,123 (GRCm39)	T738I	probably benign	Het
Uvrag	A	T	7: 98,758,297 (GRCm39)	Y81*	probably null	Het
Vmn2r116	T	G	17: 23,603,907 (GRCm39)	I44S	probably benign	Het
Xkr8	A	T	4: 132,455,688 (GRCm39)	Y228*	probably null	Het
Zbtb20	A	G	16: 43,430,025 (GRCm39)	I106V	possibly damaging	Het
Zc3h7a	C	T	16: 10,964,259 (GRCm39)	S683N	probably benign	Het
Zfp146	A	T	7: 29,861,905 (GRCm39)	C46S	possibly damaging	Het
Zfp871	T	C	17: 32,994,662 (GRCm39)	E152G	possibly damaging	Het
Zhx3	A	T	2: 160,621,718 (GRCm39)	N816K	probably damaging	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
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
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

Posted On

2015-04-16