Mutagenetix > Incidental Mutation

Incidental Mutation 'R6333:Nufip1'

513253

Institutional Source

Beutler Lab

Gene Symbol

Nufip1

Ensembl Gene

ENSMUSG00000022009

Gene Name

nuclear FMR1 interacting protein 1

Synonyms

MMRRC Submission

044487-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6333 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76348331-76374819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76349425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 152 (K152N)

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: K152N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: K152N

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

0.0638

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.9%
20x: 93.2%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	T	C	9: 15,203,372 (GRCm39)	K111R	probably benign	Het
Abhd18	A	G	3: 40,888,218 (GRCm39)	Y354C	probably benign	Het
Acap1	T	C	11: 69,774,427 (GRCm39)	I424V	possibly damaging	Het
AI182371	A	T	2: 34,975,281 (GRCm39)	I306K	probably damaging	Het
Asb4	G	A	6: 5,423,597 (GRCm39)	R248H	probably damaging	Het
Brd7	T	C	8: 89,071,819 (GRCm39)	T349A	probably damaging	Het
Bub1b	T	C	2: 118,428,944 (GRCm39)		probably null	Het
Cep85l	G	A	10: 53,225,197 (GRCm39)	Q131*	probably null	Het
Chmp2b	T	A	16: 65,337,136 (GRCm39)	M178L	possibly damaging	Het
Chrnb3	A	G	8: 27,883,355 (GRCm39)	N84D	probably damaging	Het
Clec4b2	A	T	6: 123,177,637 (GRCm39)		probably null	Het
Defa34	T	C	8: 22,155,862 (GRCm39)	V17A	probably benign	Het
Dnah3	A	T	7: 119,653,856 (GRCm39)	L947Q	probably damaging	Het
Dynlt2a1	G	A	17: 15,261,717 (GRCm39)		probably benign	Het
Ell	A	G	8: 71,044,188 (GRCm39)	Y578C	probably damaging	Het
Esp36	T	A	17: 38,728,135 (GRCm39)	M49L	probably benign	Het
Fbxw19	A	T	9: 109,323,751 (GRCm39)	W75R	probably benign	Het
Fcgr4	A	G	1: 170,856,838 (GRCm39)	Y235C	probably damaging	Het
Gm10110	A	C	14: 90,135,733 (GRCm39)		noncoding transcript	Het
Gm13030	A	T	4: 138,598,708 (GRCm39)		probably null	Het
Hdac9	T	C	12: 34,102,323 (GRCm39)	M1058V	probably damaging	Het
Hsd3b6	A	G	3: 98,713,540 (GRCm39)	F253S	probably damaging	Het
Hspg2	T	C	4: 137,289,266 (GRCm39)	Y3794H	probably damaging	Het
Mark4	G	A	7: 19,177,208 (GRCm39)	T207M	probably damaging	Het
Mme	A	G	3: 63,249,382 (GRCm39)	T304A	probably benign	Het
Neb	A	G	2: 52,148,275 (GRCm39)	L2657P	probably damaging	Het
Pcdh1	A	G	18: 38,331,860 (GRCm39)	V381A	probably benign	Het
Pdss1	A	G	2: 22,791,778 (GRCm39)	T30A	probably damaging	Het
Plrg1	A	G	3: 82,964,102 (GRCm39)	T12A	probably damaging	Het
Ppig	C	T	2: 69,579,902 (GRCm39)	H479Y	unknown	Het
Prokr2	A	G	2: 132,215,898 (GRCm39)	F188L	probably damaging	Het
Prss39	A	G	1: 34,539,150 (GRCm39)	N130S	probably benign	Het
Ptar1	G	A	19: 23,671,686 (GRCm39)	D30N	possibly damaging	Het
Rai14	G	T	15: 10,575,022 (GRCm39)	Y645*	probably null	Het
Rnasek	T	C	11: 70,129,252 (GRCm39)	Y67C	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,354,192 (GRCm39)	V4023A	probably damaging	Het
Sash3	C	T	X: 47,248,398 (GRCm39)	L307F	probably damaging	Homo
Sctr	T	C	1: 119,984,182 (GRCm39)	F357L	probably damaging	Het
Sec14l5	G	A	16: 4,984,908 (GRCm39)	V85I	probably benign	Het
Shld2	G	A	14: 33,989,565 (GRCm39)	T447M	probably damaging	Het
Sirpd	T	C	3: 15,385,671 (GRCm39)	Y77C	probably damaging	Het
Spag8	T	C	4: 43,653,186 (GRCm39)		probably benign	Het
Tbc1d2	T	C	4: 46,620,736 (GRCm39)	D358G	possibly damaging	Het
Tenm4	A	G	7: 96,423,331 (GRCm39)	T672A	probably damaging	Het
Tent2	G	A	13: 93,322,821 (GRCm39)	Q43*	probably null	Het
Trmt1l	T	A	1: 151,329,685 (GRCm39)	S543T	probably benign	Het
Ube4b	A	G	4: 149,432,494 (GRCm39)	F810S	probably damaging	Het
Vmn2r104	C	T	17: 20,249,848 (GRCm39)	V808I	probably benign	Het
Zfp3	T	A	11: 70,662,266 (GRCm39)	I75N	probably benign	Het
Zwint	A	G	10: 72,490,784 (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
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

Predicted Primers

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

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

Posted On

2018-04-27