Mutagenetix > Incidental Mutations

Incidental Mutation 'R4080:Zfr'

316839

Institutional Source

Beutler Lab

Gene Symbol

Zfr

Ensembl Gene

ENSMUSG00000022201

Gene Name

zinc finger RNA binding protein

Synonyms

MMRRC Submission

040856-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12117831-12185683 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12162233 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 823 (R823H)

Ref Sequence

ENSEMBL: ENSMUSP00000118911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122941]

Predicted Effect

probably benign
Transcript: ENSMUST00000122941
AA Change: R823H

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: R823H

Domain	Start	End	E-Value	Type
low complexity region	69	116	N/A	INTRINSIC
low complexity region	159	182	N/A	INTRINSIC
low complexity region	196	224	N/A	INTRINSIC
low complexity region	229	302	N/A	INTRINSIC
ZnF_U1	328	362	7.79e-6	SMART
ZnF_C2H2	331	355	4.94e0	SMART
ZnF_U1	379	413	1.84e-7	SMART
ZnF_C2H2	382	406	4.65e-1	SMART
low complexity region	429	448	N/A	INTRINSIC
low complexity region	468	483	N/A	INTRINSIC
ZnF_U1	579	613	2.01e-8	SMART
ZnF_C2H2	582	606	1.31e0	SMART
low complexity region	630	664	N/A	INTRINSIC
low complexity region	685	719	N/A	INTRINSIC
low complexity region	766	782	N/A	INTRINSIC
DZF	784	1038	5.42e-170	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155054

SMART Domains

Protein: ENSMUSP00000114992
Gene: ENSMUSG00000022201

Domain	Start	End	E-Value	Type
low complexity region	19	53	N/A	INTRINSIC
PDB:4ATB\|D	56	94	6e-11	PDB
low complexity region	100	114	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000156752
AA Change: R95H

SMART Domains

Protein: ENSMUSP00000119251
Gene: ENSMUSG00000022201
AA Change: R95H

Domain	Start	End	E-Value	Type
low complexity region	34	52	N/A	INTRINSIC
DZF	57	299	1.79e-152	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000157034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158625

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	G	T	12: 55,304,613	V236F	possibly damaging	Het
Aass	A	T	6: 23,109,498	D324E	possibly damaging	Het
Adam7	T	C	14: 68,520,539	T245A	probably benign	Het
Adgrf3	G	A	5: 30,197,369	Q554*	probably null	Het
Aim2	T	C	1: 173,459,851		probably null	Het
Arhgef1	G	T	7: 24,925,846	D850Y	probably damaging	Het
Aspm	C	A	1: 139,470,755	Q1024K	probably damaging	Het
C7	T	C	15: 4,990,464	S734G	probably benign	Het
Ccdc158	A	T	5: 92,623,396	S987T	probably benign	Het
Chrna2	G	T	14: 66,143,417	G45V	probably benign	Het
Chrna2	C	A	14: 66,143,424	Y47*	probably null	Het
Clec2g	C	A	6: 128,981,324	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,101,574	S253G	probably benign	Het
Cttn	T	A	7: 144,457,724	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,802,529	V286A	probably benign	Het
Dcbld2	T	A	16: 58,465,373	S632T	probably damaging	Het
Dscam	A	T	16: 96,683,772	N1118K	probably benign	Het
Eif2a	C	T	3: 58,539,629	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382	C1068S	probably benign	Het
Fstl1	G	A	16: 37,822,603	V110I	probably benign	Het
Gpat2	T	C	2: 127,433,622	I465T	probably damaging	Het
Gpr137	C	T	19: 6,940,423		probably benign	Het
Hgsnat	A	G	8: 25,946,343	I561T	probably benign	Het
Ift74	T	A	4: 94,652,912		probably null	Het
Ilf3	A	G	9: 21,403,134		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lrrc41	C	A	4: 116,080,546		probably null	Het
Myh11	C	A	16: 14,224,059	R700L	possibly damaging	Het
Myo16	A	G	8: 10,562,240	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,740,488	M1488V	probably benign	Het
Naip6	A	T	13: 100,299,307	Y903N	probably damaging	Het
Nek6	A	G	2: 38,550,637	H19R	probably damaging	Het
Nktr	A	C	9: 121,741,126	T127P	probably damaging	Het
Noc4l	A	T	5: 110,649,872	D335E	probably benign	Het
Nsd1	A	G	13: 55,301,809	D1993G	probably damaging	Het
Olfr1377	G	A	11: 50,984,856	D52N	probably damaging	Het
Olfr190	A	T	16: 59,074,256	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,775,530	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,685,779	D127V	probably damaging	Het
Phrf1	T	C	7: 141,259,720		probably benign	Het
Phtf2	T	A	5: 20,813,296	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,577,981	R1200L	probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Prss12	A	G	3: 123,485,485	N404D	probably benign	Het
Ptch2	C	G	4: 117,111,206	A926G	probably damaging	Het
Ptpa	T	C	2: 30,443,305	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293	I853T	possibly damaging	Het
Reep6	G	A	10: 80,330,162		probably benign	Het
Rex2	T	A	4: 147,058,697	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,076	E55K	probably damaging	Het
Rtl6	T	C	15: 84,557,001	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,277,795	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,431,519	S505G	probably benign	Het
Scube1	T	G	15: 83,608,747	Q904P	probably damaging	Het
Sis	T	C	3: 72,921,184	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,214,066	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,998,581	E200G	probably damaging	Het
Stard13	C	A	5: 151,092,829		probably null	Het
Sybu	T	C	15: 44,718,943	K95R	probably damaging	Het
Trappc9	T	A	15: 72,941,947	D488V	probably damaging	Het
Txk	G	A	5: 72,700,663	P381S	probably damaging	Het
Ubr2	A	T	17: 46,988,722	M198K	probably benign	Het
Unc5a	A	T	13: 55,004,481	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,941,959	R231Q	probably damaging	Het
Wfdc1	T	A	8: 119,683,793		probably null	Het
Zfp667	T	G	7: 6,305,106	C258G	possibly damaging	Het

Other mutations in Zfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Zfr	APN	15	12159646	missense	probably benign	0.26
IGL01759:Zfr	APN	15	12159655	missense	probably damaging	0.99
IGL01935:Zfr	APN	15	12180712	missense	probably benign	0.42
IGL02056:Zfr	APN	15	12154447	missense	probably damaging	1.00
IGL03009:Zfr	APN	15	12162235	missense	probably damaging	1.00
IGL03147:Zfr	UTSW	15	12140552	nonsense	probably null
PIT4504001:Zfr	UTSW	15	12166158	missense	possibly damaging	0.48
R0377:Zfr	UTSW	15	12160591	missense	probably benign	0.02
R0678:Zfr	UTSW	15	12184085	missense	probably damaging	1.00
R0783:Zfr	UTSW	15	12162182	missense	probably damaging	1.00
R0787:Zfr	UTSW	15	12140548	missense	unknown
R1464:Zfr	UTSW	15	12146372	missense	probably damaging	1.00
R1464:Zfr	UTSW	15	12146372	missense	probably damaging	1.00
R1538:Zfr	UTSW	15	12150243	missense	possibly damaging	0.61
R1558:Zfr	UTSW	15	12140644	missense	unknown
R1619:Zfr	UTSW	15	12150387	missense	possibly damaging	0.52
R1924:Zfr	UTSW	15	12160629	missense	possibly damaging	0.74
R2163:Zfr	UTSW	15	12162223	missense	probably damaging	1.00
R2958:Zfr	UTSW	15	12162233	missense	probably benign	0.08
R2960:Zfr	UTSW	15	12162233	missense	probably benign	0.08
R2961:Zfr	UTSW	15	12162233	missense	probably benign	0.08
R2962:Zfr	UTSW	15	12162233	missense	probably benign	0.08
R2963:Zfr	UTSW	15	12162233	missense	probably benign	0.08
R3012:Zfr	UTSW	15	12166163	missense	probably damaging	1.00
R3054:Zfr	UTSW	15	12154507	missense	probably damaging	1.00
R3429:Zfr	UTSW	15	12152920	missense	probably benign	0.00
R3611:Zfr	UTSW	15	12159762	critical splice donor site	probably null
R3825:Zfr	UTSW	15	12166191	missense	probably damaging	1.00
R3882:Zfr	UTSW	15	12162233	missense	probably benign	0.08
R4241:Zfr	UTSW	15	12149659	missense	probably damaging	1.00
R4366:Zfr	UTSW	15	12156330	missense	probably damaging	0.99
R4375:Zfr	UTSW	15	12118340	critical splice donor site	probably null
R4893:Zfr	UTSW	15	12136542	missense	unknown
R4899:Zfr	UTSW	15	12166145	missense	probably benign	0.11
R4915:Zfr	UTSW	15	12162112	critical splice acceptor site	probably null
R5870:Zfr	UTSW	15	12160615	missense	probably damaging	1.00
R6162:Zfr	UTSW	15	12146245	missense	unknown
R6163:Zfr	UTSW	15	12146245	missense	unknown
R6165:Zfr	UTSW	15	12146245	missense	unknown
R6187:Zfr	UTSW	15	12146231	small deletion	probably benign
R6251:Zfr	UTSW	15	12160591	missense	probably benign	0.02
R6903:Zfr	UTSW	15	12136455	missense	unknown
R6959:Zfr	UTSW	15	12150323	missense	probably damaging	1.00
R7133:Zfr	UTSW	15	12180638	missense	probably damaging	1.00
R7167:Zfr	UTSW	15	12180929	missense	probably benign	0.01
R7212:Zfr	UTSW	15	12146223	nonsense	probably null
R7373:Zfr	UTSW	15	12140559	missense	unknown
R7489:Zfr	UTSW	15	12152982	missense	probably benign	0.24
R7602:Zfr	UTSW	15	12159677	missense	possibly damaging	0.56
R7623:Zfr	UTSW	15	12160528	missense	possibly damaging	0.83
R7896:Zfr	UTSW	15	12146377	missense	probably damaging	1.00
R8188:Zfr	UTSW	15	12171818	missense	probably damaging	1.00
R8289:Zfr	UTSW	15	12135271	missense	noncoding transcript
R8382:Zfr	UTSW	15	12152968	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGGAAATTACAGTTCTGGTTGAAG -3'
(R):5'- GACAAATTACAGTACTGCAGATCCTC -3'

Sequencing Primer
(F):5'- GGATTACTTCTCCGAGGA -3'
(R):5'- GGTGTGTGTACAAAACCAAAACC -3'

Posted On

2015-05-15