Mutagenetix > Incidental Mutation

Incidental Mutation 'R7129:Nufip1'

552541

Institutional Source

Beutler Lab

Gene Symbol

Nufip1

Ensembl Gene

ENSMUSG00000022009

Gene Name

nuclear FMR1 interacting protein 1

Synonyms

MMRRC Submission

045214-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76348331-76374819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76372325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 480 (K480E)

Ref Sequence

ENSEMBL: ENSMUSP00000022586 (fasta)

Gene Model

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

AlphaFold

Q9QXX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022586
AA Change: K480E

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: K480E

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

Meta Mutation Damage Score

0.1057

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,209,199 (GRCm39)	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,263,004 (GRCm39)		probably null	Het
3110082I17Rik	A	G	5: 139,349,738 (GRCm39)	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,190,681 (GRCm39)	K282E	probably benign	Het
Adamts17	T	C	7: 66,770,758 (GRCm39)	S956P	probably damaging	Het
Adh1	T	C	3: 137,986,235 (GRCm39)	V74A	probably damaging	Het
Akt1	A	T	12: 112,626,083 (GRCm39)	M63K	probably benign	Het
Arfrp1	G	A	2: 181,001,344 (GRCm39)	R177*	probably null	Het
Arl11	A	G	14: 61,548,346 (GRCm39)	E52G	possibly damaging	Het
BC051019	T	C	7: 109,319,825 (GRCm39)	S10G		Het
Bfsp2	T	A	9: 103,357,118 (GRCm39)	E103V	probably damaging	Het
Bms1	G	T	6: 118,380,122 (GRCm39)	C728*	probably null	Het
Cachd1	T	G	4: 100,775,263 (GRCm39)	N159K	probably null	Het
Cd38	A	G	5: 44,067,651 (GRCm39)	N294S	probably benign	Het
Cfap54	T	C	10: 92,852,433 (GRCm39)	N891S	probably benign	Het
Chsy3	A	T	18: 59,543,370 (GRCm39)	H836L	probably damaging	Het
Cldn16	A	T	16: 26,301,388 (GRCm39)	D232V	probably damaging	Het
Dhx33	A	T	11: 70,884,689 (GRCm39)	I425N	probably damaging	Het
Dock4	A	G	12: 40,878,878 (GRCm39)	N1506D	probably damaging	Het
Dok7	T	C	5: 35,236,392 (GRCm39)	S227P	probably damaging	Het
Elf2	T	C	3: 51,168,432 (GRCm39)	R201G	probably damaging	Het
Elp1	T	C	4: 56,787,944 (GRCm39)	H329R	probably damaging	Het
Etaa1	T	C	11: 17,890,339 (GRCm39)	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,948,934 (GRCm39)	Y926H	probably damaging	Het
Fras1	A	G	5: 96,929,143 (GRCm39)	H3849R	probably benign	Het
Hapln3	C	T	7: 78,771,572 (GRCm39)	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,452,961 (GRCm39)		probably null	Het
Ifitm7	A	T	16: 13,801,600 (GRCm39)	I53N	possibly damaging	Het
Il6ra	T	C	3: 89,778,554 (GRCm39)	N433D	probably damaging	Het
Iqch	C	T	9: 63,329,191 (GRCm39)	V1048I	probably benign	Het
Kif20a	A	G	18: 34,765,588 (GRCm39)	T862A	probably benign	Het
Mcrs1	G	A	15: 99,146,609 (GRCm39)	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,919,017 (GRCm39)	S324P	probably damaging	Het
Nmi	A	T	2: 51,845,936 (GRCm39)		probably null	Het
Oit3	T	A	10: 59,264,166 (GRCm39)	I323F	probably damaging	Het
Or2ag17	T	C	7: 106,389,690 (GRCm39)	K173E	probably benign	Het
Or5b98	A	T	19: 12,931,478 (GRCm39)	H175L	possibly damaging	Het
Pcdha11	A	G	18: 37,140,291 (GRCm39)	E640G	probably benign	Het
Phip	C	T	9: 82,759,353 (GRCm39)	V1366I	probably damaging	Het
Plin5	T	C	17: 56,422,174 (GRCm39)	M162V	probably null	Het
Podxl2	A	G	6: 88,820,487 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab4a	A	T	8: 124,554,069 (GRCm39)	D40V	probably benign	Het
Scn7a	A	G	2: 66,530,537 (GRCm39)	F603L	probably benign	Het
Slfn5	A	T	11: 82,851,976 (GRCm39)	K701*	probably null	Het
Speer4f2	A	G	5: 17,582,446 (GRCm39)	D223G		Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tas2r117	A	T	6: 132,780,350 (GRCm39)	T163S	probably benign	Het
Tecta	T	C	9: 42,259,287 (GRCm39)	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,782,441 (GRCm39)	I146T	probably damaging	Het
Ttn	C	A	2: 76,646,515 (GRCm39)	G12844W	probably damaging	Het
Usp22	T	C	11: 61,053,775 (GRCm39)	I190V	probably damaging	Het
Usp24	T	C	4: 106,219,412 (GRCm39)	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,611 (GRCm39)	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,752,887 (GRCm39)		probably benign	Het
Zbtb8a	G	C	4: 129,254,188 (GRCm39)	A102G	probably damaging	Het
Zfp51	T	C	17: 21,681,971 (GRCm39)	W57R	probably damaging	Het

Other mutations in Nufip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03035:Nufip1	APN	14	76,353,258 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCGGTATCTCAGCTGTAAGTC -3'
(R):5'- TGCATAAAGCCTGAGGACAG -3'

Sequencing Primer
(F):5'- GATAAACCTGTCTTACTAGCCTGTG -3'
(R):5'- GCCTGAGGACAGACTTAAAATCC -3'

Posted On

2019-05-15