Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Nufip1'

592124

Institutional Source

Beutler Lab

Gene Symbol

Nufip1

Ensembl Gene

ENSMUSG00000022009

Gene Name

nuclear fragile X mental retardation protein interacting protein 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7670 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

76110891-76137379 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAAAACAGAAAACAGAAAAC to CAAAACAGAAAACAGAAAACAGAAAAC at 76111974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000022586

SMART Domains

Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
Adam26a	T	A	8: 43,570,153	H100L	probably benign	Het
Adgrf2	T	C	17: 42,711,372	N187S	probably damaging	Het
Adipoq	T	A	16: 23,157,582	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,531,925	S209T	probably benign	Het
Arrdc3	C	T	13: 80,889,093	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,689,039	N212D	probably benign	Het
Ccr9	A	T	9: 123,779,306	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,081	V270D	probably damaging	Het
Clic4	A	G	4: 135,217,205	Y220H	probably damaging	Het
Cntln	A	C	4: 84,979,340	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,631,643	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,501,614	N103D	probably benign	Het
Ddx60	T	C	8: 61,975,792	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,232		probably null	Het
Dnah7b	T	A	1: 46,109,302	D279E	probably benign	Het
Fam117a	A	G	11: 95,378,834	N308S	probably benign	Het
Fasn	A	G	11: 120,813,419	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,951,491	S625P	probably benign	Het
Gemin5	A	G	11: 58,147,928	V585A	probably benign	Het
Gm5145	C	A	17: 20,570,384	P8Q	probably benign	Het
Gm8332	T	C	12: 88,249,754	N116S	probably benign	Het
Herc1	C	A	9: 66,416,347	T1381K	probably damaging	Het
Herc6	T	C	6: 57,660,122	I824T	probably damaging	Het
Klrb1	C	T	6: 128,710,087	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,908,432	N154D	not run	Het
Lcp1	A	T	14: 75,200,431	I94F	probably benign	Het
Lin7a	A	T	10: 107,382,691	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,685,690	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,701,446	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nme8	T	C	13: 19,658,829	E392G	probably benign	Het
Nuggc	A	G	14: 65,613,526	I298V	probably damaging	Het
Nup155	A	C	15: 8,153,696	K1247Q	probably damaging	Het
Olfr368	A	T	2: 37,331,759	E4V	probably benign	Het
Olfr403	A	G	11: 74,196,207	K235E	probably damaging	Het
Otud4	T	A	8: 79,655,864		probably null	Het
Pcdhb18	T	C	18: 37,491,696	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Prkca	A	T	11: 108,014,344	N189K	probably damaging	Het
Rbm24	A	G	13: 46,429,207	I201V	probably benign	Het
Reep6	T	C	10: 80,333,793	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,040		probably benign	Het
Rev3l	C	T	10: 39,836,722	T2382I	probably benign	Het
Rnf31	A	G	14: 55,594,361	N230S	probably benign	Het
Rreb1	T	C	13: 37,931,572	L969P	probably benign	Het
Rsph4a	T	A	10: 33,909,033	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,217,266	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,718,997	V232D	probably damaging	Het
Stmn2	T	C	3: 8,554,865	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424	G1373D	probably damaging	Het
Tmem206	A	G	1: 191,340,868	N162S	probably benign	Het
Tns1	C	A	1: 73,952,477	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,135,867	C768*	probably null	Het
Ubl7	A	T	9: 57,929,769	E354D	probably benign	Het
Ush2a	T	C	1: 188,784,708	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,510,573	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,951,877	L402P	probably damaging	Het
Zfp27	T	A	7: 29,894,796	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,215,076		probably benign	Het

Other mutations in Nufip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03035:Nufip1	APN	14	76115818	missense	probably damaging	1.00
R0748:Nufip1	UTSW	14	76111068	missense	probably damaging	1.00
R1576:Nufip1	UTSW	14	76134870	missense	probably benign	0.00
R1641:Nufip1	UTSW	14	76126252	missense	possibly damaging	0.55
R1992:Nufip1	UTSW	14	76134847	missense	probably damaging	1.00
R5093:Nufip1	UTSW	14	76110973	missense	probably benign	0.12
R5191:Nufip1	UTSW	14	76111989	missense	probably damaging	1.00
R5212:Nufip1	UTSW	14	76133098	missense	possibly damaging	0.72
R5282:Nufip1	UTSW	14	76114275	critical splice donor site	probably null
R5635:Nufip1	UTSW	14	76126146	missense	probably damaging	1.00
R5916:Nufip1	UTSW	14	76134900	makesense	probably null
R5990:Nufip1	UTSW	14	76114188	missense	probably damaging	0.99
R6328:Nufip1	UTSW	14	76111054	missense	possibly damaging	0.62
R6333:Nufip1	UTSW	14	76111985	missense	probably damaging	1.00
R6697:Nufip1	UTSW	14	76133073	missense	probably benign	0.09
R7129:Nufip1	UTSW	14	76134885	missense	possibly damaging	0.82
R7585:Nufip1	UTSW	14	76110987	missense	probably benign	0.02
R7848:Nufip1	UTSW	14	76114221	missense	probably damaging	1.00
R7912:Nufip1	UTSW	14	76115002	missense	possibly damaging	0.90
R7982:Nufip1	UTSW	14	76126239	missense	probably benign
R8202:Nufip1	UTSW	14	76111164	missense	probably benign	0.03
R9141:Nufip1	UTSW	14	76132973	missense	possibly damaging	0.92
R9558:Nufip1	UTSW	14	76111041	missense	probably benign	0.34
X0067:Nufip1	UTSW	14	76130861	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTATAAAACTGGGGACTACTTGC -3'
(R):5'- CCAAGACGGTTTTAATGTTCTTTC -3'

Sequencing Primer
(F):5'- TATCCCCTCAGTGTAGGAAGACG -3'
(R):5'- AGACGGTTTTAATGTTCTTTCTTTTC -3'

Posted On

2019-11-12