Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Zfp90'

547001

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

045013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106415327-106426598 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 106425009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 451 (C451*)

Ref Sequence

ENSEMBL: ENSMUSP00000148744 (fasta)

Gene Model

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

AlphaFold

Q61967

Predicted Effect

probably null
Transcript: ENSMUST00000034382
AA Change: C451*

SMART Domains

Protein: ENSMUSP00000034382
Gene: ENSMUSG00000031907
AA Change: C451*

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

Predicted Effect

probably null
Transcript: ENSMUST00000212874
AA Change: C451*

Predicted Effect

probably benign
Transcript: ENSMUST00000213045

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp945	A	G	17: 22,852,290	C212R	probably 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
R0462:Zfp90	UTSW	8	106425260	missense	possibly damaging	0.89
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
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
R9370:Zfp90	UTSW	8	106419159	missense	probably damaging	1.00
R9581:Zfp90	UTSW	8	106425082	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GCCTTTCGAGTGCAGCATTTG -3'
(R):5'- GTTTATTCCGGGCGTGAACTC -3'

Sequencing Primer
(F):5'- CGAGTGCAGCATTTGTGGGAG -3'
(R):5'- GCAAGCATAGGGTTTCTCTCCAG -3'

Posted On

2019-05-13