Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:Zfr'

165359

Institutional Source

Beutler Lab

Gene Symbol

Zfr

Ensembl Gene

ENSMUSG00000022201

Gene Name

zinc finger RNA binding protein

Synonyms

C920030H05Rik

MMRRC Submission

039518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12117917-12185769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12146458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 336 (C336W)

Ref Sequence

ENSEMBL: ENSMUSP00000117207 (fasta)

Gene Model

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

AlphaFold

O88532

Predicted Effect

probably damaging
Transcript: ENSMUST00000122941
AA Change: C336W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: C336W

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 damaging
Transcript: ENSMUST00000128475
AA Change: C336W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117207
Gene: ENSMUSG00000022201
AA Change: C336W

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: ENSMUST00000228196

Coding Region Coverage

1x: 99.5%
3x: 98.0%
10x: 91.0%
20x: 72.6%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	A	G	12: 31,234,914 (GRCm39)		noncoding transcript	Het
Adamts8	T	A	9: 30,862,673 (GRCm39)	W86R	probably benign	Het
Adh1	A	G	3: 137,994,508 (GRCm39)		probably null	Het
Adipor2	A	T	6: 119,338,804 (GRCm39)	W150R	probably damaging	Het
Aff4	T	A	11: 53,263,351 (GRCm39)	S124T	probably damaging	Het
Ahnak	G	T	19: 8,982,260 (GRCm39)	K1181N	probably damaging	Het
Alkbh5	A	G	11: 60,429,873 (GRCm39)	I209V	probably benign	Het
Ankrd11	T	C	8: 123,619,463 (GRCm39)	E1442G	probably damaging	Het
Apba2	T	A	7: 64,345,297 (GRCm39)	D162E	probably benign	Het
Asic3	G	A	5: 24,618,819 (GRCm39)	G37E	probably damaging	Het
AU040320	A	T	4: 126,685,824 (GRCm39)	K133N	possibly damaging	Het
C1qtnf7	A	G	5: 43,766,481 (GRCm39)	S34G	probably benign	Het
Ccdc148	T	A	2: 58,796,374 (GRCm39)	R463*	probably null	Het
Ccdc148	T	C	2: 58,824,455 (GRCm39)	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,576,263 (GRCm39)	I142T	probably benign	Het
Chrna10	G	A	7: 101,763,454 (GRCm39)	P114S	probably damaging	Het
Chst10	A	G	1: 38,904,772 (GRCm39)	I311T	probably damaging	Het
Cpne9	T	C	6: 113,271,698 (GRCm39)	Y353H	probably damaging	Het
Cubn	G	T	2: 13,330,099 (GRCm39)	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,903,827 (GRCm39)	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,671,478 (GRCm39)	T117A	probably damaging	Het
Ddah1	A	T	3: 145,559,029 (GRCm39)	K96*	probably null	Het
Ddx5	A	C	11: 106,675,711 (GRCm39)	D326E	probably benign	Het
Dlg2	T	C	7: 91,617,406 (GRCm39)	S323P	probably damaging	Het
Dnaaf1	C	T	8: 120,306,049 (GRCm39)	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,914,147 (GRCm39)	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,091,366 (GRCm39)	T642A	probably benign	Het
Dnajc18	A	G	18: 35,813,900 (GRCm39)	S290P	possibly damaging	Het
Dscam	T	A	16: 96,602,453 (GRCm39)	H663L	possibly damaging	Het
Emc1	A	G	4: 139,098,248 (GRCm39)	N740S	probably damaging	Het
Enpp2	C	T	15: 54,727,208 (GRCm39)	G541D	probably damaging	Het
Fam234b	C	T	6: 135,205,490 (GRCm39)	T485I	probably benign	Het
Fbxl13	A	T	5: 21,688,989 (GRCm39)	I773K	probably benign	Het
Fmo4	A	G	1: 162,621,924 (GRCm39)	F429S	possibly damaging	Het
Frem1	T	C	4: 82,930,116 (GRCm39)	S277G	probably damaging	Het
Gaa	A	G	11: 119,163,810 (GRCm39)	I221V	probably benign	Het
Helz2	T	C	2: 180,881,447 (GRCm39)	E345G	probably damaging	Het
Ifna4	G	T	4: 88,760,237 (GRCm39)	R47I	probably damaging	Het
Igsf21	C	A	4: 139,761,836 (GRCm39)	A281S	probably benign	Het
Ikzf3	T	A	11: 98,407,731 (GRCm39)	I37L	probably benign	Het
Jag1	T	C	2: 136,957,568 (GRCm39)	E48G	probably damaging	Het
Jarid2	G	T	13: 45,001,857 (GRCm39)	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,369,605 (GRCm39)	L125P	probably damaging	Het
Kif21b	A	G	1: 136,083,891 (GRCm39)	K713E	possibly damaging	Het
Layn	T	A	9: 50,968,886 (GRCm39)	S286C	probably damaging	Het
Lepr	T	A	4: 101,592,878 (GRCm39)	D164E	probably benign	Het
Macroh2a1	A	T	13: 56,230,949 (GRCm39)	S310T	probably damaging	Het
Map3k1	T	C	13: 111,892,405 (GRCm39)	H950R	possibly damaging	Het
Map4k5	C	A	12: 69,852,124 (GRCm39)	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 119,851,742 (GRCm39)	S895T	probably benign	Het
Naca	T	A	10: 127,884,157 (GRCm39)	M2157K	probably damaging	Het
Nav2	T	C	7: 49,011,952 (GRCm39)	I61T	probably damaging	Het
Nkx2-5	C	A	17: 27,058,253 (GRCm39)	A234S	probably benign	Het
Nol8	G	A	13: 49,830,264 (GRCm39)	S1116N	probably benign	Het
Nppa	T	C	4: 148,085,304 (GRCm39)	S5P	probably benign	Het
Nup210	A	G	6: 91,030,551 (GRCm39)	V123A	possibly damaging	Het
Or13a21	G	T	7: 139,999,286 (GRCm39)	N133K	probably benign	Het
Osbpl11	A	G	16: 33,049,455 (GRCm39)	K604R	probably damaging	Het
Osbpl1a	C	T	18: 13,047,615 (GRCm39)	S113N	probably benign	Het
P2rx4	C	A	5: 122,852,602 (GRCm39)	P92Q	probably damaging	Het
Pde9a	A	T	17: 31,692,136 (GRCm39)	Q148L	probably benign	Het
Phf21b	T	A	15: 84,689,160 (GRCm39)	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,515,990 (GRCm39)	F977I	probably damaging	Het
Potefam1	A	G	2: 111,055,748 (GRCm39)		probably null	Het
Pp2d1	T	G	17: 53,823,015 (GRCm39)	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,843,527 (GRCm39)	E415G	probably damaging	Het
Pramel19	T	A	4: 101,798,503 (GRCm39)	L158Q	probably damaging	Het
Prkg1	A	G	19: 30,556,270 (GRCm39)	S559P	probably damaging	Het
Prss45	A	T	9: 110,670,019 (GRCm39)	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,883,517 (GRCm39)	N849K	probably damaging	Het
Rnf121	A	G	7: 101,680,782 (GRCm39)	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,699,368 (GRCm39)	N502S	probably damaging	Het
Sap25	T	A	5: 137,640,622 (GRCm39)	Y167*	probably null	Het
Sdk2	G	A	11: 113,720,906 (GRCm39)	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,792,896 (GRCm39)	V302A	probably benign	Het
Skor1	T	A	9: 63,047,393 (GRCm39)	M865L	possibly damaging	Het
Slc35g1	C	A	19: 38,391,665 (GRCm39)	L316I	probably benign	Het
Slco1a8	C	T	6: 141,938,243 (GRCm39)	W225*	probably null	Het
Spint4	T	A	2: 164,540,568 (GRCm39)	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,389,154 (GRCm39)	D178V	probably benign	Het
Tbc1d2	T	A	4: 46,606,491 (GRCm39)	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,400,197 (GRCm39)		probably null	Het
Teddm2	C	T	1: 153,726,277 (GRCm39)	W146*	probably null	Het
Ttn	T	A	2: 76,589,338 (GRCm39)	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274 (GRCm39)	T102A	probably damaging	Het
Uxs1	G	A	1: 43,804,076 (GRCm39)	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,204,681 (GRCm39)	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,463,348 (GRCm39)	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,242,217 (GRCm39)	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,200,914 (GRCm39)	L137F	probably benign	Het
Vps13b	C	T	15: 35,709,630 (GRCm39)	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,415,019 (GRCm39)	H347R	probably benign	Het
Wnk2	G	A	13: 49,235,451 (GRCm39)	P655S	probably damaging	Het
Zan	T	G	5: 137,418,191 (GRCm39)	D2969A	unknown	Het
Zbtb24	A	G	10: 41,331,075 (GRCm39)	H334R	probably damaging	Het
Zfp108	A	G	7: 23,959,973 (GRCm39)	D188G	probably benign	Het
Zfp784	A	T	7: 5,038,800 (GRCm39)	C253S	possibly 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
IGL02056:Zfr	APN	15	12,154,533 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTTATGAAGCAGCCGTATATTCAGC -3'
(R):5'- CACACCAATGTAGTTTTCCACATGCAC -3'

Sequencing Primer
(F):5'- CGTCTTCCTACTACcaacagcag -3'
(R):5'- tgtagttttccaCATGCACATTTTTG -3'

Posted On

2014-03-28