Mutagenetix > Incidental Mutation

Incidental Mutation 'R9173:Nop14'

696521

Institutional Source

Beutler Lab

Gene Symbol

Nop14

Ensembl Gene

ENSMUSG00000036693

Gene Name

NOP14 nucleolar protein

Synonyms

Nol14, 2610033H07Rik

MMRRC Submission

068947-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9173 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34795880-34817492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34806776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 443 (S443P)

Ref Sequence

ENSEMBL: ENSMUSP00000038382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041364]

AlphaFold

Q8R3N1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041364
AA Change: S443P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: S443P

Domain	Start	End	E-Value	Type
Pfam:Nop14	21	849	2.2e-273	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201897

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	G	T	9: 119,170,190 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,710,564 (GRCm39)	T79A	probably benign	Het
Cpd	C	T	11: 76,699,649 (GRCm39)	R634Q	probably damaging	Het
Ctnna2	T	C	6: 76,896,939 (GRCm39)	D753G	probably damaging	Het
Cyp51	T	C	5: 4,136,504 (GRCm39)	N430S	probably benign	Het
Dnajc17	A	T	2: 119,009,894 (GRCm39)	V244D	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,171,379 (GRCm39)	K1796E	probably benign	Het
Eftud2	A	T	11: 102,734,242 (GRCm39)	V659E	probably damaging	Het
Ercc4	G	A	16: 12,939,973 (GRCm39)	A168T	possibly damaging	Het
Exd2	T	C	12: 80,536,236 (GRCm39)	Y289H	probably benign	Het
Fat2	C	A	11: 55,169,763 (GRCm39)	V2999L	probably damaging	Het
Fgd5	T	C	6: 92,044,584 (GRCm39)		probably null	Het
Fkbp9	T	C	6: 56,850,389 (GRCm39)	S422P	possibly damaging	Het
H2bc21	T	C	3: 96,128,615 (GRCm39)	V45A	possibly damaging	Het
H2-Eb2	A	G	17: 34,552,491 (GRCm39)	D112G	probably benign	Het
Herc2	A	T	7: 55,856,350 (GRCm39)	R3929S	probably damaging	Het
Hrc	G	A	7: 44,986,799 (GRCm39)		probably null	Het
Ighv5-8	T	A	12: 113,618,681 (GRCm39)	V32D	probably benign	Het
Itgal	G	T	7: 126,896,789 (GRCm39)		probably null	Het
Jcad	T	A	18: 4,675,820 (GRCm39)	V1194E	probably benign	Het
Kat8	A	G	7: 127,511,863 (GRCm39)	T54A	probably benign	Het
Kcnu1	G	A	8: 26,390,074 (GRCm39)		probably null	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lama1	A	G	17: 68,076,597 (GRCm39)	T1124A		Het
Lrp2	T	A	2: 69,299,731 (GRCm39)	D3107V	probably damaging	Het
Map6	G	A	7: 98,917,935 (GRCm39)	R236H	probably damaging	Het
Mycbpap	T	A	11: 94,397,209 (GRCm39)	N64I	probably damaging	Het
Nxn	T	C	11: 76,149,560 (GRCm39)	D380G	possibly damaging	Het
Or1e28-ps1	T	A	11: 73,615,734 (GRCm39)	I39F	possibly damaging	Het
Patj	A	T	4: 98,526,958 (GRCm39)	M1390L	probably benign	Het
Pcyox1l	A	G	18: 61,830,663 (GRCm39)	L403P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,384,152 (GRCm39)	S1181G	probably benign	Het
Prom1	A	T	5: 44,220,520 (GRCm39)	I76N	possibly damaging	Het
Relch	A	G	1: 105,678,128 (GRCm39)	E1151G	probably benign	Het
Rnft1	T	C	11: 86,377,001 (GRCm39)	S22P	probably benign	Het
Sec31a	T	C	5: 100,529,147 (GRCm39)	T733A	possibly damaging	Het
Serpina1c	A	G	12: 103,862,328 (GRCm39)	I329T	possibly damaging	Het
Slco1a4	T	C	6: 141,761,299 (GRCm39)	D438G	probably benign	Het
Slit2	G	A	5: 48,377,285 (GRCm39)	C438Y	probably damaging	Het
Sorcs1	T	A	19: 50,220,753 (GRCm39)	I566F	possibly damaging	Het
Spata31e5	T	A	1: 28,816,430 (GRCm39)	E534V	probably benign	Het
Spata7	T	A	12: 98,603,853 (GRCm39)	S73R	probably damaging	Het
Stau2	G	A	1: 16,444,933 (GRCm39)	R332*	probably null	Het
Sytl3	T	C	17: 7,000,471 (GRCm39)	F419L	probably damaging	Het
Tet1	A	C	10: 62,676,065 (GRCm39)	D670E	probably benign	Het
Trafd1	T	C	5: 121,516,598 (GRCm39)	R202G	possibly damaging	Het
Tubal3	A	T	13: 3,983,050 (GRCm39)	T277S	possibly damaging	Het
Ube4b	A	G	4: 149,415,933 (GRCm39)	F1054L	probably damaging	Het
Unc13b	C	A	4: 43,177,421 (GRCm39)	Q2750K	unknown	Het
Usp29	T	C	7: 6,964,636 (GRCm39)	S160P	possibly damaging	Het
Vmn2r114	A	T	17: 23,510,527 (GRCm39)	I651N	probably damaging	Het
Ypel1	A	T	16: 16,915,298 (GRCm39)	C103*	probably null	Het
Zfp11	A	T	5: 129,734,891 (GRCm39)	I190N	probably damaging	Het

Other mutations in Nop14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Nop14	APN	5	34,798,657 (GRCm39)	unclassified	probably benign
IGL00985:Nop14	APN	5	34,802,133 (GRCm39)	missense	probably damaging	0.98
IGL01626:Nop14	APN	5	34,806,689 (GRCm39)	nonsense	probably null
IGL02676:Nop14	APN	5	34,796,565 (GRCm39)	missense	probably damaging	0.97
IGL03189:Nop14	APN	5	34,807,972 (GRCm39)	unclassified	probably benign
IGL03047:Nop14	UTSW	5	34,817,358 (GRCm39)	missense	possibly damaging	0.93
R0025:Nop14	UTSW	5	34,801,297 (GRCm39)	missense	probably benign	0.08
R0831:Nop14	UTSW	5	34,807,864 (GRCm39)	missense	possibly damaging	0.70
R1027:Nop14	UTSW	5	34,801,348 (GRCm39)	missense	probably damaging	0.99
R1252:Nop14	UTSW	5	34,807,899 (GRCm39)	missense	probably benign
R1616:Nop14	UTSW	5	34,807,757 (GRCm39)	missense	possibly damaging	0.46
R1845:Nop14	UTSW	5	34,807,672 (GRCm39)	missense	possibly damaging	0.82
R2032:Nop14	UTSW	5	34,817,283 (GRCm39)	missense	possibly damaging	0.65
R3693:Nop14	UTSW	5	34,811,782 (GRCm39)	missense	probably damaging	0.98
R4033:Nop14	UTSW	5	34,807,861 (GRCm39)	missense	probably benign
R4168:Nop14	UTSW	5	34,814,088 (GRCm39)	missense	probably damaging	0.99
R4172:Nop14	UTSW	5	34,807,951 (GRCm39)	missense	probably damaging	0.99
R4618:Nop14	UTSW	5	34,796,562 (GRCm39)	missense	probably damaging	1.00
R4936:Nop14	UTSW	5	34,809,737 (GRCm39)	missense	probably damaging	1.00
R6067:Nop14	UTSW	5	34,815,295 (GRCm39)	missense	probably damaging	1.00
R6075:Nop14	UTSW	5	34,817,235 (GRCm39)	missense	probably damaging	1.00
R6078:Nop14	UTSW	5	34,815,295 (GRCm39)	missense	probably damaging	1.00
R6284:Nop14	UTSW	5	34,798,835 (GRCm39)	splice site	probably null
R7295:Nop14	UTSW	5	34,796,376 (GRCm39)	missense	probably damaging	0.99
R7585:Nop14	UTSW	5	34,802,124 (GRCm39)	missense	probably damaging	1.00
R7626:Nop14	UTSW	5	34,809,135 (GRCm39)	missense	probably damaging	0.99
R7954:Nop14	UTSW	5	34,807,729 (GRCm39)	missense	probably benign
R8079:Nop14	UTSW	5	34,811,805 (GRCm39)	missense	probably damaging	1.00
R8428:Nop14	UTSW	5	34,798,784 (GRCm39)	missense	probably damaging	0.99
R8850:Nop14	UTSW	5	34,817,352 (GRCm39)	missense	probably benign	0.05
U15987:Nop14	UTSW	5	34,815,295 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCACACGGTACTATGTAC -3'
(R):5'- TCAGACTCCCTGGAGAAGAGTAG -3'

Sequencing Primer
(F):5'- GTACCTCCAAGTAAGTCTAGCATTC -3'
(R):5'- AAGTGAAGGAACTGTGCC -3'

Posted On

2022-02-07