Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Nufip1'

592124

Institutional Source

Beutler Lab

Gene Symbol

Nufip1

Ensembl Gene

ENSMUSG00000022009

Gene Name

nuclear FMR1 interacting protein 1

Synonyms

MMRRC Submission

045742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7670 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

76348331-76374819 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAAAACAGAAAACAGAAAAC to CAAAACAGAAAACAGAAAACAGAAAAC at 76349414 bp (GRCm39)

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
Adam26a	T	A	8: 44,023,190 (GRCm39)	H100L	probably benign	Het
Adgrf2	T	C	17: 43,022,263 (GRCm39)	N187S	probably damaging	Het
Adipoq	T	A	16: 22,976,332 (GRCm39)	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,373,845 (GRCm39)	S209T	probably benign	Het
Arrdc3	C	T	13: 81,037,212 (GRCm39)	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,579,865 (GRCm39)	N212D	probably benign	Het
Ccr9	A	T	9: 123,608,371 (GRCm39)	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 179,892,646 (GRCm39)	V270D	probably damaging	Het
Clic4	A	G	4: 134,944,516 (GRCm39)	Y220H	probably damaging	Het
Cntln	A	C	4: 84,897,577 (GRCm39)	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,538,925 (GRCm39)	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,408,925 (GRCm39)	N103D	probably benign	Het
Ddx60	T	C	8: 62,428,826 (GRCm39)	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,378 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,148,462 (GRCm39)	D279E	probably benign	Het
Eif1ad10	T	C	12: 88,216,524 (GRCm39)	N116S	probably benign	Het
Fam117a	A	G	11: 95,269,660 (GRCm39)	N308S	probably benign	Het
Fasn	A	G	11: 120,704,245 (GRCm39)	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,678,802 (GRCm39)	S625P	probably benign	Het
Gemin5	A	G	11: 58,038,754 (GRCm39)	V585A	probably benign	Het
Gm5145	C	A	17: 20,790,646 (GRCm39)	P8Q	probably benign	Het
Herc1	C	A	9: 66,323,629 (GRCm39)	T1381K	probably damaging	Het
Herc6	T	C	6: 57,637,107 (GRCm39)	I824T	probably damaging	Het
Klrb1	C	T	6: 128,687,050 (GRCm39)	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,799,258 (GRCm39)	N154D	not run	Het
Lcp1	A	T	14: 75,437,871 (GRCm39)	I94F	probably benign	Het
Lin7a	A	T	10: 107,218,552 (GRCm39)	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,846,351 (GRCm39)	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,834,517 (GRCm39)	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015 (GRCm39)	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nme8	T	C	13: 19,842,999 (GRCm39)	E392G	probably benign	Het
Nuggc	A	G	14: 65,850,975 (GRCm39)	I298V	probably damaging	Het
Nup155	A	C	15: 8,183,180 (GRCm39)	K1247Q	probably damaging	Het
Or1a1	A	G	11: 74,087,033 (GRCm39)	K235E	probably damaging	Het
Or5c1	A	T	2: 37,221,771 (GRCm39)	E4V	probably benign	Het
Otud4	T	A	8: 80,382,493 (GRCm39)		probably null	Het
Pacc1	A	G	1: 191,073,065 (GRCm39)	N162S	probably benign	Het
Pcdhb18	T	C	18: 37,624,749 (GRCm39)	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,727,210 (GRCm39)	F1108L	probably benign	Het
Prkca	A	T	11: 107,905,170 (GRCm39)	N189K	probably damaging	Het
Rbm24	A	G	13: 46,582,683 (GRCm39)	I201V	probably benign	Het
Reep6	T	C	10: 80,169,627 (GRCm39)	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,126 (GRCm39)		probably benign	Het
Rev3l	C	T	10: 39,712,718 (GRCm39)	T2382I	probably benign	Het
Rnf31	A	G	14: 55,831,818 (GRCm39)	N230S	probably benign	Het
Rreb1	T	C	13: 38,115,548 (GRCm39)	L969P	probably benign	Het
Rsph4a	T	A	10: 33,785,029 (GRCm39)	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,183,525 (GRCm39)	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,758,157 (GRCm39)	V232D	probably damaging	Het
Stmn2	T	C	3: 8,619,925 (GRCm39)	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424 (GRCm39)	G1373D	probably damaging	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tns1	C	A	1: 73,991,636 (GRCm39)	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620 (GRCm38)	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,373,324 (GRCm39)	C768*	probably null	Het
Ubl7	A	T	9: 57,837,052 (GRCm39)	E354D	probably benign	Het
Ush2a	T	C	1: 188,516,905 (GRCm39)	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,340,917 (GRCm39)	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,753,077 (GRCm39)	L402P	probably damaging	Het
Zfp27	T	A	7: 29,594,221 (GRCm39)	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,105,903 (GRCm39)		probably benign	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
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'- AACTATAAAACTGGGGACTACTTGC -3'
(R):5'- CCAAGACGGTTTTAATGTTCTTTC -3'

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

Posted On

2019-11-12