Mutagenetix > Incidental Mutation

Incidental Mutation 'R7848:Nufip1'

606753

Institutional Source

Beutler Lab

Gene Symbol

Nufip1

Ensembl Gene

ENSMUSG00000022009

Gene Name

nuclear FMR1 interacting protein 1

Synonyms

MMRRC Submission

045902-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76348331-76374819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76351661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 172 (R172H)

Ref Sequence

ENSEMBL: ENSMUSP00000022586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022585] [ENSMUST00000022586]

AlphaFold

Q9QXX8

Predicted Effect

probably benign
Transcript: ENSMUST00000022585

SMART Domains

Protein: ENSMUSP00000022585
Gene: ENSMUSG00000022008

Domain	Start	End	E-Value	Type
low complexity region	41	67	N/A	INTRINSIC
low complexity region	105	117	N/A	INTRINSIC
Pfam:DUF3752	202	338	8.9e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000022586
AA Change: R172H

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

SMART Domains

Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: R172H

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

0.1151

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,340,007 (GRCm39)	A2T	probably damaging	Het
Abca3	G	T	17: 24,603,506 (GRCm39)	G566V	probably damaging	Het
Aff4	C	A	11: 53,295,339 (GRCm39)	N846K	probably benign	Het
Aldh1l2	C	T	10: 83,335,707 (GRCm39)	R714Q	probably benign	Het
Cbln1	T	C	8: 88,198,328 (GRCm39)	T126A	probably damaging	Het
Ccdc85a	A	G	11: 28,346,123 (GRCm39)	S446P	possibly damaging	Het
Ccdc87	A	G	19: 4,891,536 (GRCm39)	Q676R	probably damaging	Het
Cenatac	A	G	9: 44,324,939 (GRCm39)	S139P	probably damaging	Het
Col26a1	T	C	5: 136,775,907 (GRCm39)	K349E	possibly damaging	Het
Col6a5	T	C	9: 105,805,385 (GRCm39)	I1174V	unknown	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 49,973,557 (GRCm39)	D64G	possibly damaging	Het
Dnajc15	T	C	14: 78,077,643 (GRCm39)	H114R	probably damaging	Het
Espl1	T	C	15: 102,224,961 (GRCm39)	F1390S	probably damaging	Het
F5	T	C	1: 163,989,446 (GRCm39)	I116T	possibly damaging	Het
Fam120b	T	C	17: 15,626,036 (GRCm39)	V463A	possibly damaging	Het
Fat4	A	G	3: 38,942,000 (GRCm39)	M298V	probably benign	Het
Fhad1	A	T	4: 141,632,913 (GRCm39)	M1197K	probably benign	Het
Fn1	T	A	1: 71,689,760 (GRCm39)	I127F	probably damaging	Het
Frmd4a	A	G	2: 4,596,728 (GRCm39)		probably benign	Het
Gabpb2	A	T	3: 95,097,959 (GRCm39)	V238E	probably damaging	Het
Gnpat	C	A	8: 125,613,630 (GRCm39)	Q626K	possibly damaging	Het
Gstm7	A	T	3: 107,835,902 (GRCm39)		probably null	Het
Gys2	G	T	6: 142,391,741 (GRCm39)	S507*	probably null	Het
Ippk	T	A	13: 49,596,972 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,196,548 (GRCm39)	N623I	probably damaging	Het
Kcnb1	A	G	2: 166,948,188 (GRCm39)	F220S	probably damaging	Het
Kiz	T	A	2: 146,731,100 (GRCm39)	S197T	probably benign	Het
Klhl42	A	G	6: 147,009,598 (GRCm39)	N479S	probably damaging	Het
Lims2	A	G	18: 32,091,301 (GRCm39)	*60W	probably null	Het
Lrch4	A	G	5: 137,632,116 (GRCm39)	N124S	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k13	T	C	16: 21,724,621 (GRCm39)	V373A	probably damaging	Het
Mapkapk5	A	G	5: 121,683,232 (GRCm39)	I11T	probably benign	Het
Mroh2b	C	T	15: 4,967,861 (GRCm39)	Q967*	probably null	Het
Mthfd1l	A	G	10: 4,033,739 (GRCm39)	T709A	possibly damaging	Het
Muc6	T	C	7: 141,232,188 (GRCm39)	T939A	possibly damaging	Het
Ncam2	C	T	16: 81,287,267 (GRCm39)	H394Y	probably benign	Het
Ncoa7	A	T	10: 30,524,414 (GRCm39)	N161K	possibly damaging	Het
Nr2c1	C	T	10: 94,026,508 (GRCm39)	S461L	probably benign	Het
Nrg3	T	C	14: 38,390,240 (GRCm39)	E323G	probably damaging	Het
Nup210l	A	G	3: 90,111,212 (GRCm39)	T1705A	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Ogfr	T	C	2: 180,234,226 (GRCm39)	L99P	probably damaging	Het
Or10am5	T	C	7: 6,517,861 (GRCm39)	D189G	probably damaging	Het
Or51a43	T	A	7: 103,717,302 (GRCm39)	N312I	probably benign	Het
Pcare	T	C	17: 72,056,188 (GRCm39)	D1163G	probably benign	Het
Pcdh18	A	T	3: 49,710,446 (GRCm39)	S290T	possibly damaging	Het
Pklr	T	G	3: 89,050,285 (GRCm39)	I378S	possibly damaging	Het
Rbm12	A	T	2: 155,938,136 (GRCm39)	M712K	probably benign	Het
Rnase10	T	C	14: 51,246,970 (GRCm39)	V116A	possibly damaging	Het
Scube3	T	C	17: 28,384,569 (GRCm39)	L621P	probably benign	Het
Slc35e1	T	C	8: 73,246,280 (GRCm39)	I51V	probably benign	Het
Smcr8	A	G	11: 60,670,750 (GRCm39)	T633A	probably benign	Het
St18	T	C	1: 6,927,669 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,044,275 (GRCm39)	I509N	probably damaging	Het
Tmcc2	T	C	1: 132,288,359 (GRCm39)	K443E	probably damaging	Het
Tmem98	T	G	11: 80,710,758 (GRCm39)	V139G	probably damaging	Het
Trgv5	G	A	13: 19,376,849 (GRCm39)	V99I	probably damaging	Het
Ttll1	T	C	15: 83,381,573 (GRCm39)	E232G	probably damaging	Het
Zfp442	T	C	2: 150,253,146 (GRCm39)	N39D	possibly 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
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
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'- CGAATCTTCATTAGGTCTCCAAC -3'
(R):5'- TACTGTCCCCATGCAGCAAG -3'

Sequencing Primer
(F):5'- CTTCATTAGGTCTCCAACTTGAAATC -3'
(R):5'- TGCAGCAAGTCAGCAAACATTTC -3'

Posted On

2019-12-20