Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02056:Zfr'

185223

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfr

Ensembl Gene

ENSMUSG00000022201

Gene Name

zinc finger RNA binding protein

Synonyms

C920030H05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02056

Quality Score

Status

Chromosome

Chromosomal Location

12117917-12185769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12154533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 572 (V572A)

Ref Sequence

ENSEMBL: ENSMUSP00000118911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122941] [ENSMUST00000128475]

AlphaFold

O88532

Predicted Effect

probably damaging
Transcript: ENSMUST00000122941
AA Change: V572A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: V572A

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: ENSMUST00000128475

SMART Domains

Protein: ENSMUSP00000117207
Gene: ENSMUSG00000022201

Domain	Start	End	E-Value	Type
low complexity region	32	79	N/A	INTRINSIC
low complexity region	122	145	N/A	INTRINSIC
low complexity region	159	187	N/A	INTRINSIC
low complexity region	192	247	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158625

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 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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg101	T	C	15: 101,188,218 (GRCm39)	S108P	probably damaging	Het
BB014433	A	T	8: 15,092,435 (GRCm39)	C139*	probably null	Het
Cacna1s	A	G	1: 136,046,738 (GRCm39)	N1808S	probably benign	Het
Ccdc148	A	G	2: 58,894,081 (GRCm39)		probably benign	Het
Dnah7a	T	G	1: 53,543,501 (GRCm39)	N2223T	probably benign	Het
Fgl2	T	A	5: 21,580,543 (GRCm39)	I295K	probably damaging	Het
Foxj3	T	C	4: 119,442,954 (GRCm39)	I126T	probably damaging	Het
Gm4540	T	A	3: 105,942,056 (GRCm39)		probably benign	Het
Hps5	T	G	7: 46,437,606 (GRCm39)	K156N	probably damaging	Het
Hsp90aa1	T	C	12: 110,660,449 (GRCm39)		probably benign	Het
Il12rb1	C	T	8: 71,263,831 (GRCm39)	R131*	probably null	Het
Itgb2l	T	C	16: 96,228,889 (GRCm39)	E438G	probably damaging	Het
Kplce	T	A	3: 92,776,200 (GRCm39)	Q161L	probably benign	Het
Nbeal2	A	T	9: 110,456,392 (GRCm39)	L2379Q	probably benign	Het
Neurl4	T	C	11: 69,796,616 (GRCm39)	V481A	probably damaging	Het
Nos1ap	A	G	1: 170,146,192 (GRCm39)	F454S	possibly damaging	Het
Pik3r5	G	T	11: 68,381,681 (GRCm39)	G242C	possibly damaging	Het
Pkd1l3	A	G	8: 110,358,010 (GRCm39)	N834S	probably benign	Het
Prkar2b	A	G	12: 32,025,909 (GRCm39)		probably benign	Het
Pusl1	T	C	4: 155,975,029 (GRCm39)	T191A	probably benign	Het
Rasal2	A	G	1: 157,126,831 (GRCm39)	V51A	probably damaging	Het
Rsc1a1	T	A	4: 141,412,796 (GRCm39)	I39F	probably benign	Het
Slc2a3	G	A	6: 122,712,437 (GRCm39)	P269L	probably damaging	Het
Sntb1	C	T	15: 55,511,435 (GRCm39)	G383D	possibly damaging	Het
Washc5	T	C	15: 59,222,185 (GRCm39)	T547A	possibly damaging	Het
Zmym6	T	A	4: 126,997,207 (GRCm39)	N275K	probably damaging	Het

Other mutations in Zfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Zfr	APN	15	12,159,732 (GRCm39)	missense	probably benign	0.26
IGL01759:Zfr	APN	15	12,159,741 (GRCm39)	missense	probably damaging	0.99
IGL01935:Zfr	APN	15	12,180,798 (GRCm39)	missense	probably benign	0.42
IGL03009:Zfr	APN	15	12,162,321 (GRCm39)	missense	probably damaging	1.00
IGL03147:Zfr	UTSW	15	12,140,638 (GRCm39)	nonsense	probably null
PIT4504001:Zfr	UTSW	15	12,166,244 (GRCm39)	missense	possibly damaging	0.48
R0377:Zfr	UTSW	15	12,160,677 (GRCm39)	missense	probably benign	0.02
R0678:Zfr	UTSW	15	12,184,171 (GRCm39)	missense	probably damaging	1.00
R0783:Zfr	UTSW	15	12,162,268 (GRCm39)	missense	probably damaging	1.00
R0787:Zfr	UTSW	15	12,140,634 (GRCm39)	missense	unknown
R1464:Zfr	UTSW	15	12,146,458 (GRCm39)	missense	probably damaging	1.00
R1464:Zfr	UTSW	15	12,146,458 (GRCm39)	missense	probably damaging	1.00
R1538:Zfr	UTSW	15	12,150,329 (GRCm39)	missense	possibly damaging	0.61
R1558:Zfr	UTSW	15	12,140,730 (GRCm39)	missense	unknown
R1619:Zfr	UTSW	15	12,150,473 (GRCm39)	missense	possibly damaging	0.52
R1924:Zfr	UTSW	15	12,160,715 (GRCm39)	missense	possibly damaging	0.74
R2163:Zfr	UTSW	15	12,162,309 (GRCm39)	missense	probably damaging	1.00
R2958:Zfr	UTSW	15	12,162,319 (GRCm39)	missense	probably benign	0.08
R2960:Zfr	UTSW	15	12,162,319 (GRCm39)	missense	probably benign	0.08
R2961:Zfr	UTSW	15	12,162,319 (GRCm39)	missense	probably benign	0.08
R2962:Zfr	UTSW	15	12,162,319 (GRCm39)	missense	probably benign	0.08
R2963:Zfr	UTSW	15	12,162,319 (GRCm39)	missense	probably benign	0.08
R3012:Zfr	UTSW	15	12,166,249 (GRCm39)	missense	probably damaging	1.00
R3054:Zfr	UTSW	15	12,154,593 (GRCm39)	missense	probably damaging	1.00
R3429:Zfr	UTSW	15	12,153,006 (GRCm39)	missense	probably benign	0.00
R3611:Zfr	UTSW	15	12,159,848 (GRCm39)	critical splice donor site	probably null
R3825:Zfr	UTSW	15	12,166,277 (GRCm39)	missense	probably damaging	1.00
R3882:Zfr	UTSW	15	12,162,319 (GRCm39)	missense	probably benign	0.08
R4080:Zfr	UTSW	15	12,162,319 (GRCm39)	missense	probably benign	0.08
R4241:Zfr	UTSW	15	12,149,745 (GRCm39)	missense	probably damaging	1.00
R4366:Zfr	UTSW	15	12,156,416 (GRCm39)	missense	probably damaging	0.99
R4375:Zfr	UTSW	15	12,118,426 (GRCm39)	critical splice donor site	probably null
R4893:Zfr	UTSW	15	12,136,628 (GRCm39)	missense	unknown
R4899:Zfr	UTSW	15	12,166,231 (GRCm39)	missense	probably benign	0.11
R4915:Zfr	UTSW	15	12,162,198 (GRCm39)	critical splice acceptor site	probably null
R5870:Zfr	UTSW	15	12,160,701 (GRCm39)	missense	probably damaging	1.00
R6162:Zfr	UTSW	15	12,146,331 (GRCm39)	missense	unknown
R6163:Zfr	UTSW	15	12,146,331 (GRCm39)	missense	unknown
R6165:Zfr	UTSW	15	12,146,331 (GRCm39)	missense	unknown
R6187:Zfr	UTSW	15	12,146,317 (GRCm39)	small deletion	probably benign
R6251:Zfr	UTSW	15	12,160,677 (GRCm39)	missense	probably benign	0.02
R6903:Zfr	UTSW	15	12,136,541 (GRCm39)	missense	unknown
R6959:Zfr	UTSW	15	12,150,409 (GRCm39)	missense	probably damaging	1.00
R7133:Zfr	UTSW	15	12,180,724 (GRCm39)	missense	probably damaging	1.00
R7167:Zfr	UTSW	15	12,181,015 (GRCm39)	missense	probably benign	0.01
R7212:Zfr	UTSW	15	12,146,309 (GRCm39)	nonsense	probably null
R7373:Zfr	UTSW	15	12,140,645 (GRCm39)	missense	unknown
R7489:Zfr	UTSW	15	12,153,068 (GRCm39)	missense	probably benign	0.24
R7602:Zfr	UTSW	15	12,159,763 (GRCm39)	missense	possibly damaging	0.56
R7623:Zfr	UTSW	15	12,160,614 (GRCm39)	missense	possibly damaging	0.83
R7896:Zfr	UTSW	15	12,146,463 (GRCm39)	missense	probably damaging	1.00
R8188:Zfr	UTSW	15	12,171,904 (GRCm39)	missense	probably damaging	1.00
R8289:Zfr	UTSW	15	12,135,357 (GRCm39)	missense	noncoding transcript
R8382:Zfr	UTSW	15	12,153,054 (GRCm39)	nonsense	probably null
R8475:Zfr	UTSW	15	12,150,455 (GRCm39)	missense	probably benign	0.08
R9124:Zfr	UTSW	15	12,136,757 (GRCm39)	missense	unknown
R9493:Zfr	UTSW	15	12,180,706 (GRCm39)	critical splice acceptor site	probably null
R9598:Zfr	UTSW	15	12,162,292 (GRCm39)	missense	probably damaging	0.99
R9631:Zfr	UTSW	15	12,154,628 (GRCm39)	nonsense	probably null

Posted On

2014-05-07