Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03009:Zfr'

407695

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 #

IGL03009

Quality Score

Status

Chromosome

Chromosomal Location

12117917-12185769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12162321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 824 (I824F)

Ref Sequence

ENSEMBL: ENSMUSP00000118911 (fasta)

Gene Model

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

AlphaFold

O88532

Predicted Effect

probably damaging
Transcript: ENSMUST00000122941
AA Change: I824F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: I824F

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: I96F

SMART Domains

Protein: ENSMUSP00000119251
Gene: ENSMUSG00000022201
AA Change: I96F

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

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
Adsl	C	A	15: 80,836,444 (GRCm39)	S67*	probably null	Het
Arrdc4	A	G	7: 68,389,241 (GRCm39)	V411A	probably damaging	Het
Cnnm2	A	G	19: 46,865,794 (GRCm39)	Y794C	probably damaging	Het
Flt4	G	T	11: 49,517,951 (GRCm39)	K330N	probably benign	Het
Foxs1	T	C	2: 152,774,849 (GRCm39)	H68R	probably damaging	Het
Gm21969	C	T	4: 139,334,965 (GRCm39)	S333L	probably damaging	Het
Gm7008	T	A	12: 40,273,546 (GRCm39)		probably benign	Het
Gmppa	A	G	1: 75,416,014 (GRCm39)	Y137C	probably damaging	Het
Grwd1	A	G	7: 45,476,561 (GRCm39)		probably benign	Het
Kdm5a	C	T	6: 120,407,047 (GRCm39)	R1421W	probably damaging	Het
Myo5b	A	G	18: 74,894,039 (GRCm39)	T1749A	possibly damaging	Het
Neb	A	G	2: 52,069,468 (GRCm39)		probably benign	Het
Ntng1	T	C	3: 109,842,018 (GRCm39)	K252E	possibly damaging	Het
Nup133	A	G	8: 124,660,239 (GRCm39)	I353T	possibly damaging	Het
Or51ab3	C	A	7: 103,201,734 (GRCm39)	C247*	probably null	Het
Osbpl11	T	C	16: 33,062,100 (GRCm39)		probably benign	Het
Pcsk9	C	T	4: 106,311,542 (GRCm39)	G230S	probably damaging	Het
Polr1b	A	G	2: 128,967,988 (GRCm39)	N1127S	probably damaging	Het
Rasgrf1	A	T	9: 89,873,756 (GRCm39)	K688N	possibly damaging	Het
Rhot1	A	G	11: 80,111,080 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,393 (GRCm39)	Q1159L	possibly damaging	Het
Ros1	T	C	10: 52,022,003 (GRCm39)	I594V	probably benign	Het
Slc43a2	G	A	11: 75,463,202 (GRCm39)	C536Y	probably benign	Het
Stip1	A	T	19: 6,998,489 (GRCm39)	V537E	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Vav1	A	T	17: 57,603,582 (GRCm39)	T94S	probably benign	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
IGL02056:Zfr	APN	15	12,154,533 (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

2016-08-02