Mutagenetix > Incidental Mutations

Incidental Mutation 'R0462:Zfp90'

41386

Institutional Source

Beutler Lab

Gene Symbol

Zfp90

Ensembl Gene

ENSMUSG00000031907

Gene Name

zinc finger protein 90

Synonyms

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

MMRRC Submission

038662-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R0462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106415327-106426598 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106425260 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 535 (S535L)

Ref Sequence

ENSEMBL: ENSMUSP00000148744 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034382
AA Change: S535L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034382
Gene: ENSMUSG00000031907
AA Change: S535L

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

possibly damaging
Transcript: ENSMUST00000212874
AA Change: S535L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000213045

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	T	A	8: 11,661,749		probably benign	Het
1700022I11Rik	T	A	4: 42,973,429	F921I	probably benign	Het
9530053A07Rik	A	T	7: 28,137,340	D228V	probably damaging	Het
Aarsd1	A	T	11: 101,414,091	D190E	probably damaging	Het
Acnat2	A	G	4: 49,383,084		probably null	Het
Acot10	T	G	15: 20,666,626	T10P	possibly damaging	Het
Aldh7a1	T	C	18: 56,534,214		probably null	Het
Alkbh7	G	A	17: 56,998,443	V87I	probably benign	Het
Ano2	A	T	6: 125,712,275	H121L	probably benign	Het
Apob	A	T	12: 8,000,896	Y1040F	probably damaging	Het
Arhgap25	A	T	6: 87,459,960	V636E	possibly damaging	Het
Atad2b	A	T	12: 4,941,973	T191S	possibly damaging	Het
Btbd9	A	T	17: 30,530,217	V41D	possibly damaging	Het
Bzw2	G	A	12: 36,124,024	R25C	probably damaging	Het
Carmil1	T	C	13: 24,022,511	S1326G	probably benign	Het
Cdh18	A	G	15: 23,366,885	R226G	probably damaging	Het
Cdh3	A	G	8: 106,555,380	N800S	possibly damaging	Het
Cep152	A	T	2: 125,583,934	V837E	possibly damaging	Het
Cep85	G	A	4: 134,131,421	T713M	possibly damaging	Het
Chd7	T	C	4: 8,850,821	Y1736H	probably damaging	Het
Chst3	T	C	10: 60,186,713	E104G	probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Cmah	T	A	13: 24,436,741	S319R	possibly damaging	Het
Cnbd1	A	G	4: 18,895,044	F233L	probably benign	Het
Cpne5	T	C	17: 29,176,189	E251G	probably benign	Het
Csf2rb2	G	A	15: 78,285,173	P485L	probably damaging	Het
Dimt1	T	C	13: 106,948,756	M70T	possibly damaging	Het
Dlk2	A	G	17: 46,303,098	*383W	probably null	Het
Dnah2	G	A	11: 69,459,201	R2369C	probably damaging	Het
Dock2	A	G	11: 34,268,052	F1173L	possibly damaging	Het
Dok7	A	G	5: 35,066,462	H115R	possibly damaging	Het
Dpy19l1	A	G	9: 24,414,349	I720T	probably benign	Het
Eps8	A	T	6: 137,514,311	D356E	probably benign	Het
Exoc1	A	G	5: 76,543,617	N263D	probably benign	Het
Fam173b	T	C	15: 31,616,872	M161T	probably damaging	Het
Fbxl3	T	C	14: 103,082,886	D375G	probably damaging	Het
Flg2	A	T	3: 93,201,437	E257D	probably benign	Het
Fstl4	A	G	11: 53,186,402	D662G	probably benign	Het
Gbp10	G	T	5: 105,218,524	Q505K	possibly damaging	Het
Gemin2	C	T	12: 59,013,519	P15S	probably damaging	Het
Gm14124	A	G	2: 150,269,202	E604G	possibly damaging	Het
Grhl2	A	G	15: 37,344,675	M514V	probably benign	Het
Hgs	A	G	11: 120,479,144	N413D	possibly damaging	Het
Il12rb2	T	C	6: 67,303,610	S538G	possibly damaging	Het
Kdm5a	A	G	6: 120,402,600	D623G	probably damaging	Het
Kif1bp	A	T	10: 62,559,456	I469N	probably damaging	Het
Matk	G	T	10: 81,259,693	V116F	probably damaging	Het
Mcm3	T	C	1: 20,805,332	T694A	probably benign	Het
Mctp1	C	A	13: 76,801,401	H260Q	probably damaging	Het
Mios	T	A	6: 8,215,743	I313K	probably benign	Het
Muc4	T	A	16: 32,762,536	Y2562N	possibly damaging	Het
Naip5	T	A	13: 100,221,732	I999F	probably damaging	Het
Olfr128	A	T	17: 37,923,776	D70V	probably damaging	Het
Olfr1375	A	G	11: 51,048,509	Y134C	probably damaging	Het
Olfr68	A	T	7: 103,777,563	S261T	probably benign	Het
Olfr749	T	A	14: 50,737,097	I22L	probably benign	Het
Olfr834	A	T	9: 18,988,902	I305F	probably benign	Het
Olfr965	T	A	9: 39,719,410	F61Y	probably benign	Het
Pafah1b1	A	G	11: 74,677,715	V396A	probably benign	Het
Pard6b	T	A	2: 168,087,547	I91N	possibly damaging	Het
Pdzd2	T	C	15: 12,592,160	S133G	probably damaging	Het
Plcg2	T	G	8: 117,585,305	S445R	probably benign	Het
Plekhd1	G	T	12: 80,721,578	V396L	probably damaging	Het
Ppp4r2	A	G	6: 100,866,557	D294G	possibly damaging	Het
Ppwd1	T	C	13: 104,222,960		probably null	Het
Prr22	A	G	17: 56,770,551		probably benign	Het
Psme4	A	G	11: 30,848,117	D1370G	probably damaging	Het
Rac3	T	A	11: 120,722,858	V86D	probably damaging	Het
Rnf207	T	C	4: 152,313,372	S335G	possibly damaging	Het
Rxfp3	A	G	15: 11,036,977	L103P	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Smpdl3a	G	T	10: 57,794,731	C17F	probably benign	Het
Spen	A	T	4: 141,473,651	I2555N	probably damaging	Het
Srpk2	G	T	5: 23,518,426	T564K	probably damaging	Het
Stard4	C	T	18: 33,205,149	R116H	probably damaging	Het
Supt7l	A	T	5: 31,520,296	S175R	probably damaging	Het
Sycp1	A	T	3: 102,819,106	Y932N	possibly damaging	Het
Tas2r122	T	C	6: 132,711,178	M251V	probably benign	Het
Tbx15	A	T	3: 99,316,318	E274V	probably damaging	Het
Tex52	A	G	6: 128,384,954	E298G	probably benign	Het
Tmem101	T	C	11: 102,155,867	M59V	probably benign	Het
Tmem132b	T	C	5: 125,785,926	V665A	probably damaging	Het
Trim23	T	C	13: 104,198,033	V347A	probably damaging	Het
Ush2a	A	G	1: 188,910,939	H4166R	probably benign	Het
Vmn2r101	G	T	17: 19,590,169	V406L	probably benign	Het
Vrk3	A	G	7: 44,764,200	D166G	possibly damaging	Het
Washc4	T	A	10: 83,556,913	M259K	probably benign	Het
Wdr70	T	C	15: 8,079,161	D167G	probably benign	Het
Zfp28	A	T	7: 6,392,240	Q248L	possibly damaging	Het
Zfp39	A	G	11: 58,890,406	I510T	probably benign	Het
Zfp710	T	A	7: 80,090,341	*646R	probably null	Het
Zfp949	C	T	9: 88,568,734	T119I	possibly damaging	Het

Other mutations in Zfp90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01753:Zfp90	APN	8	106424150	missense	probably benign	0.00
IGL02170:Zfp90	APN	8	106419524	missense	probably damaging	0.99
IGL02818:Zfp90	APN	8	106424209	missense	probably benign
R0378:Zfp90	UTSW	8	106425506	missense	possibly damaging	0.69
R1555:Zfp90	UTSW	8	106424095	missense	probably benign
R1869:Zfp90	UTSW	8	106419123	missense	probably benign	0.00
R1870:Zfp90	UTSW	8	106419123	missense	probably benign	0.00
R2110:Zfp90	UTSW	8	106425488	missense	probably damaging	1.00
R2112:Zfp90	UTSW	8	106425488	missense	probably damaging	1.00
R3717:Zfp90	UTSW	8	106424050	missense	probably benign	0.12
R4506:Zfp90	UTSW	8	106424864	missense	possibly damaging	0.78
R5288:Zfp90	UTSW	8	106425368	missense	probably damaging	1.00
R5691:Zfp90	UTSW	8	106425078	nonsense	probably null
R5789:Zfp90	UTSW	8	106423973	missense	probably benign
R6283:Zfp90	UTSW	8	106425394	missense	probably damaging	1.00
R6560:Zfp90	UTSW	8	106415747	missense	probably damaging	0.99
R6977:Zfp90	UTSW	8	106425316	missense	probably damaging	1.00
R6977:Zfp90	UTSW	8	106425317	missense	probably damaging	0.99
R7040:Zfp90	UTSW	8	106425009	nonsense	probably null
R7196:Zfp90	UTSW	8	106425148	missense	probably damaging	0.99
R7523:Zfp90	UTSW	8	106423913	missense	probably benign	0.07
R7535:Zfp90	UTSW	8	106424268	missense	possibly damaging	0.94
R7546:Zfp90	UTSW	8	106424691	missense	probably benign	0.22
R7719:Zfp90	UTSW	8	106419093	missense	probably damaging	1.00
R8036:Zfp90	UTSW	8	106419128	missense	probably benign	0.21
R8056:Zfp90	UTSW	8	106424480	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGCTCTGAACAGACCCTTCTTG -3'
(R):5'- CTGACACTGGGTTGGAAGCAGATG -3'

Sequencing Primer
(F):5'- AGACCCTTCTTGGTCAGCAG -3'
(R):5'- ggtcgtgcaaattggtcttc -3'

Posted On

2013-05-23