Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03035:Nufip1'

408618

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nufip1

Ensembl Gene

ENSMUSG00000022009

Gene Name

nuclear FMR1 interacting protein 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03035

Quality Score

Status

Chromosome

Chromosomal Location

76348331-76374819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76353258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 222 (D222G)

Ref Sequence

ENSEMBL: ENSMUSP00000022586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022586]

AlphaFold

Q9QXX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022586
AA Change: D222G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: D222G

Domain	Start	End	E-Value	Type
low complexity region	38	48	N/A	INTRINSIC
low complexity region	80	99	N/A	INTRINSIC
ZnF_C2H2	165	187	3.58e-2	SMART
ZnF_C2H2	188	212	5.4e1	SMART
low complexity region	291	304	N/A	INTRINSIC

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 a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,573,319 (GRCm39)	L1004P	probably damaging	Het
Adgrf5	T	C	17: 43,741,518 (GRCm39)	I385T	possibly damaging	Het
Alpk3	T	C	7: 80,728,352 (GRCm39)	V494A	probably benign	Het
Camta2	C	A	11: 70,562,335 (GRCm39)	E1021*	probably null	Het
Ccdc6	T	A	10: 70,018,006 (GRCm39)	S334T	probably benign	Het
Cd84	T	C	1: 171,679,601 (GRCm39)	V93A	probably damaging	Het
Ceacam20	T	C	7: 19,711,833 (GRCm39)		probably null	Het
Crip2	A	C	12: 113,107,745 (GRCm39)	T103P	probably benign	Het
Cyp4f14	T	A	17: 33,133,608 (GRCm39)	T83S	probably benign	Het
Dapk1	T	A	13: 60,864,587 (GRCm39)	V127D	probably damaging	Het
Dnah7c	A	G	1: 46,563,277 (GRCm39)	E609G	probably benign	Het
Dscam	T	A	16: 96,621,170 (GRCm39)	I513F	possibly damaging	Het
Ell2	T	A	13: 75,911,767 (GRCm39)	L351*	probably null	Het
Emcn	G	T	3: 137,078,612 (GRCm39)		probably null	Het
Fdft1	A	T	14: 63,400,838 (GRCm39)	C98*	probably null	Het
Fer1l4	A	G	2: 155,864,526 (GRCm39)	S1663P	possibly damaging	Het
Flt4	C	A	11: 49,536,724 (GRCm39)	Y1231*	probably null	Het
Gatb	A	G	3: 85,509,254 (GRCm39)	K139E	probably damaging	Het
Gtf2a1	C	A	12: 91,539,411 (GRCm39)		probably benign	Het
Gtf3c2	A	C	5: 31,323,358 (GRCm39)	V574G	possibly damaging	Het
Heatr1	T	C	13: 12,428,100 (GRCm39)		probably benign	Het
Homer2	T	A	7: 81,274,026 (GRCm39)	T57S	possibly damaging	Het
Ice2	C	A	9: 69,332,970 (GRCm39)	F825L	probably benign	Het
Lepr	C	A	4: 101,622,177 (GRCm39)	L370I	probably damaging	Het
Nalcn	G	A	14: 123,515,630 (GRCm39)	Q1724*	probably null	Het
Or4f4b	T	C	2: 111,314,168 (GRCm39)	V159A	probably benign	Het
Prl3b1	A	G	13: 27,433,516 (GRCm39)		probably benign	Het
Ptbp3	A	T	4: 59,477,218 (GRCm39)	M393K	probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rapgef2	T	A	3: 79,001,731 (GRCm39)	H282L	probably damaging	Het
Rars2	T	C	4: 34,656,865 (GRCm39)		probably null	Het
Rnf213	G	A	11: 119,336,452 (GRCm39)		probably benign	Het
Ros1	C	A	10: 51,952,080 (GRCm39)		probably benign	Het
Slx4ip	A	G	2: 136,909,623 (GRCm39)	D206G	possibly damaging	Het
Sprr1a	T	A	3: 92,391,884 (GRCm39)	D39V	probably benign	Het
Stab1	A	G	14: 30,869,726 (GRCm39)	V1442A	probably benign	Het
Tbx3	C	A	5: 119,821,161 (GRCm39)		probably benign	Het
Ubl3	A	G	5: 148,442,947 (GRCm39)	*118Q	probably null	Het
Vmn2r55	G	A	7: 12,404,743 (GRCm39)	S220L	probably benign	Het
Vps36	A	G	8: 22,708,431 (GRCm39)	K362E	probably benign	Het
Zfp268	C	A	4: 145,348,802 (GRCm39)	Q80K	possibly damaging	Het

Other mutations in Nufip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0748:Nufip1	UTSW	14	76,348,508 (GRCm39)	missense	probably damaging	1.00
R1576:Nufip1	UTSW	14	76,372,310 (GRCm39)	missense	probably benign	0.00
R1641:Nufip1	UTSW	14	76,363,692 (GRCm39)	missense	possibly damaging	0.55
R1992:Nufip1	UTSW	14	76,372,287 (GRCm39)	missense	probably damaging	1.00
R5093:Nufip1	UTSW	14	76,348,413 (GRCm39)	missense	probably benign	0.12
R5191:Nufip1	UTSW	14	76,349,429 (GRCm39)	missense	probably damaging	1.00
R5212:Nufip1	UTSW	14	76,370,538 (GRCm39)	missense	possibly damaging	0.72
R5282:Nufip1	UTSW	14	76,351,715 (GRCm39)	critical splice donor site	probably null
R5635:Nufip1	UTSW	14	76,363,586 (GRCm39)	missense	probably damaging	1.00
R5916:Nufip1	UTSW	14	76,372,340 (GRCm39)	makesense	probably null
R5990:Nufip1	UTSW	14	76,351,628 (GRCm39)	missense	probably damaging	0.99
R6328:Nufip1	UTSW	14	76,348,494 (GRCm39)	missense	possibly damaging	0.62
R6333:Nufip1	UTSW	14	76,349,425 (GRCm39)	missense	probably damaging	1.00
R6697:Nufip1	UTSW	14	76,370,513 (GRCm39)	missense	probably benign	0.09
R7129:Nufip1	UTSW	14	76,372,325 (GRCm39)	missense	possibly damaging	0.82
R7585:Nufip1	UTSW	14	76,348,427 (GRCm39)	missense	probably benign	0.02
R7670:Nufip1	UTSW	14	76,349,414 (GRCm39)	frame shift	probably null
R7848:Nufip1	UTSW	14	76,351,661 (GRCm39)	missense	probably damaging	1.00
R7912:Nufip1	UTSW	14	76,352,442 (GRCm39)	missense	possibly damaging	0.90
R7982:Nufip1	UTSW	14	76,363,679 (GRCm39)	missense	probably benign
R8202:Nufip1	UTSW	14	76,348,604 (GRCm39)	missense	probably benign	0.03
R9141:Nufip1	UTSW	14	76,370,413 (GRCm39)	missense	possibly damaging	0.92
R9558:Nufip1	UTSW	14	76,348,481 (GRCm39)	missense	probably benign	0.34
X0067:Nufip1	UTSW	14	76,368,301 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02