Mutagenetix > Incidental Mutation

Incidental Mutation 'R5635:Nufip1'

448680

Institutional Source

Beutler Lab

Gene Symbol

Nufip1

Ensembl Gene

ENSMUSG00000022009

Gene Name

nuclear FMR1 interacting protein 1

Synonyms

MMRRC Submission

043286-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5635 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76348331-76374819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76363586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 270 (K270M)

Ref Sequence

ENSEMBL: ENSMUSP00000022586 (fasta)

Gene Model

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

AlphaFold

Q9QXX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022586
AA Change: K270M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: K270M

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

0.3839

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (90/91)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,094,273 (GRCm39)	M53K	possibly damaging	Het
Aldh3b3	C	T	19: 4,018,512 (GRCm39)	T409I	probably benign	Het
Ankrd13a	C	A	5: 114,939,778 (GRCm39)	H468Q	possibly damaging	Het
Ap2a1	A	C	7: 44,573,325 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,259,085 (GRCm39)	S671T	possibly damaging	Het
C1ra	G	A	6: 124,493,683 (GRCm39)	C145Y	probably damaging	Het
Catsperd	G	A	17: 56,939,335 (GRCm39)	V55M	possibly damaging	Het
Ccdc30	T	C	4: 119,216,871 (GRCm39)	N123D	possibly damaging	Het
Cdc20	A	T	4: 118,293,224 (GRCm39)	V232E	possibly damaging	Het
Cfap251	A	T	5: 123,460,635 (GRCm39)	Q225L	probably benign	Het
Cfap58	T	A	19: 47,971,981 (GRCm39)	V637E	possibly damaging	Het
Coq4	T	A	2: 29,678,367 (GRCm39)	V24E	possibly damaging	Het
Crim1	T	A	17: 78,623,070 (GRCm39)	F423I	probably damaging	Het
Crls1	T	C	2: 132,706,062 (GRCm39)	V262A	possibly damaging	Het
Crybb1	T	C	5: 112,405,425 (GRCm39)		probably null	Het
Cutc	T	A	19: 43,744,069 (GRCm39)	N23K	probably benign	Het
Cxcl10	T	A	5: 92,495,698 (GRCm39)	I82F	probably damaging	Het
Cyp3a44	A	T	5: 145,738,124 (GRCm39)	F60L	possibly damaging	Het
Dhx9	A	G	1: 153,359,493 (GRCm39)	M35T	probably benign	Het
Dnah8	A	G	17: 30,925,360 (GRCm39)	E1265G	probably benign	Het
Dzank1	C	G	2: 144,325,327 (GRCm39)	D548H	probably damaging	Het
Eef2kmt	A	G	16: 5,066,893 (GRCm39)	V120A	probably damaging	Het
Elp4	A	G	2: 105,644,609 (GRCm39)		probably null	Het
Etl4	A	T	2: 20,811,846 (GRCm39)	I1310F	probably damaging	Het
Exoc6b	A	T	6: 84,828,909 (GRCm39)	F492I	probably damaging	Het
F2rl2	A	T	13: 95,837,290 (GRCm39)	I112F	possibly damaging	Het
Farp1	T	A	14: 121,513,716 (GRCm39)	I837N	possibly damaging	Het
Fars2	A	G	13: 36,594,129 (GRCm39)	E378G	probably damaging	Het
Fgg	A	G	3: 82,918,730 (GRCm39)	T248A	probably benign	Het
Flrt3	T	A	2: 140,502,420 (GRCm39)	T403S	probably damaging	Het
Fndc3b	C	T	3: 27,596,080 (GRCm39)	E170K	probably damaging	Het
Gm17728	A	G	17: 9,641,202 (GRCm39)	H104R	probably benign	Het
H2ac21	C	A	3: 96,127,593 (GRCm39)	T121K	possibly damaging	Het
Hivep1	A	G	13: 42,313,603 (GRCm39)	T1948A	probably benign	Het
Hspa4l	T	A	3: 40,700,177 (GRCm39)	I23N	probably damaging	Het
Ighv1-75	A	G	12: 115,797,829 (GRCm39)	V31A	probably benign	Het
Kalrn	T	A	16: 33,834,454 (GRCm39)	N627I	probably damaging	Het
Lrp1b	T	G	2: 42,542,834 (GRCm39)		probably benign	Het
Lrrc36	G	A	8: 106,184,205 (GRCm39)	V480M	probably damaging	Het
Map4k3	A	T	17: 80,920,924 (GRCm39)	N534K	possibly damaging	Het
Mybpc3	C	T	2: 90,965,174 (GRCm39)	T1081I	probably benign	Het
Nfrkb	T	C	9: 31,310,594 (GRCm39)	S351P	probably damaging	Het
Nme4	A	T	17: 26,313,205 (GRCm39)	V43E	probably damaging	Het
Notch1	C	T	2: 26,366,173 (GRCm39)	E794K	probably damaging	Het
Or10ak16	G	T	4: 118,750,832 (GRCm39)	G184V	probably benign	Het
Or1e30	G	T	11: 73,678,460 (GRCm39)	R232L	probably benign	Het
Or51b6	G	A	7: 103,555,845 (GRCm39)	M66I	probably benign	Het
Or5t5	A	G	2: 86,616,070 (GRCm39)		probably null	Het
Or8g51	A	G	9: 38,609,455 (GRCm39)	I73T	possibly damaging	Het
Pcdhb15	T	A	18: 37,606,823 (GRCm39)	Y18*	probably null	Het
Pcdhb21	A	T	18: 37,646,970 (GRCm39)	Y33F	probably benign	Het
Pds5b	T	A	5: 150,701,686 (GRCm39)	H772Q	possibly damaging	Het
Pik3r4	C	A	9: 105,545,024 (GRCm39)	H168N	probably benign	Het
Pitpnm3	A	G	11: 71,957,986 (GRCm39)	S386P	possibly damaging	Het
Plg	A	G	17: 12,614,641 (GRCm39)	H307R	probably damaging	Het
Prdm9	A	C	17: 15,782,702 (GRCm39)	D96E	probably damaging	Het
Prmt8	A	G	6: 127,745,692 (GRCm39)	S7P	probably damaging	Het
Prune2	T	C	19: 17,095,573 (GRCm39)	V359A	probably benign	Het
Pxn	A	T	5: 115,689,551 (GRCm39)	Q279L	probably benign	Het
Rarb	A	T	14: 16,443,788 (GRCm38)	C167S	probably damaging	Het
Rps6kb2	T	A	19: 4,211,133 (GRCm39)	I131F	probably damaging	Het
Sec14l3	T	A	11: 4,021,484 (GRCm39)	V219E	probably damaging	Het
Simc1	A	G	13: 54,673,217 (GRCm39)	T522A	probably benign	Het
Slc1a6	T	C	10: 78,624,925 (GRCm39)	V110A	possibly damaging	Het
Slc38a11	T	G	2: 65,191,747 (GRCm39)		probably null	Het
Snx13	T	A	12: 35,190,170 (GRCm39)	D840E	probably benign	Het
Sp100	C	A	1: 85,609,985 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,686 (GRCm39)	L104I	probably damaging	Het
Surf4	T	C	2: 26,823,325 (GRCm39)	N4D	probably benign	Het
Tas2r131	A	T	6: 132,934,571 (GRCm39)	D79E	probably benign	Het
Tbc1d20	T	C	2: 152,153,381 (GRCm39)	S304P	probably benign	Het
Tbrg1	T	C	9: 37,566,287 (GRCm39)		probably benign	Het
Tmem214	A	G	5: 31,028,861 (GRCm39)	N150S	probably damaging	Het
Trappc13	A	T	13: 104,286,606 (GRCm39)	I217K	probably benign	Het
Ttc41	T	A	10: 86,572,841 (GRCm39)	C738S	probably benign	Het
Ttn	T	C	2: 76,540,068 (GRCm39)	Q25979R	probably benign	Het
Tubb2b	A	T	13: 34,312,180 (GRCm39)	N204K	probably damaging	Het
Ube3a	T	A	7: 58,938,236 (GRCm39)	M713K	probably damaging	Het
Usp37	T	C	1: 74,534,970 (GRCm39)		probably benign	Het
Vegfb	T	A	19: 6,960,214 (GRCm39)	*189C	probably null	Het
Vmn2r82	A	G	10: 79,214,652 (GRCm39)	N212D	probably benign	Het
Vta1	A	T	10: 14,543,866 (GRCm39)		probably null	Het
Xdh	T	G	17: 74,220,870 (GRCm39)	I620L	possibly damaging	Het
Xpnpep3	A	G	15: 81,320,970 (GRCm39)	Y283C	probably benign	Het
Zscan18	A	G	7: 12,504,791 (GRCm39)	S609P	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
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
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'- GGCACACGCTAAGAAAATCTG -3'
(R):5'- CTGTGGATCAAAGCACCTAGAG -3'

Sequencing Primer
(F):5'- TGGCACAACAGAGCCCTATTTTAG -3'
(R):5'- CTAGAGGGTCCACATTAGCCTTG -3'

Posted On

2016-12-15