Mutagenetix > Incidental Mutation

Incidental Mutation 'R8428:Nop14'

653584

Institutional Source

Beutler Lab

Gene Symbol

Nop14

Ensembl Gene

ENSMUSG00000036693

Gene Name

NOP14 nucleolar protein

Synonyms

Nol14, 2610033H07Rik

MMRRC Submission

067822-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8428 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34795880-34817492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34798784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 648 (S648L)

Ref Sequence

ENSEMBL: ENSMUSP00000038382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001109] [ENSMUST00000041364] [ENSMUST00000114329] [ENSMUST00000114331] [ENSMUST00000124668] [ENSMUST00000126257] [ENSMUST00000137150] [ENSMUST00000149657] [ENSMUST00000155577]

AlphaFold

Q8R3N1

Predicted Effect

probably benign
Transcript: ENSMUST00000001109

SMART Domains

Protein: ENSMUSP00000001109
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.9e-41	PFAM
Pfam:Sugar_tr	62	235	7.9e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000041364
AA Change: S648L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: S648L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114329

SMART Domains

Protein: ENSMUSP00000109968
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.8e-41	PFAM
Pfam:Sugar_tr	71	228	2.3e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114331

SMART Domains

Protein: ENSMUSP00000109970
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.8e-41	PFAM
Pfam:Sugar_tr	71	228	2.3e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124668

SMART Domains

Protein: ENSMUSP00000119140
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126257

SMART Domains

Protein: ENSMUSP00000144630
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	139	5.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137150

SMART Domains

Protein: ENSMUSP00000120814
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149657

SMART Domains

Protein: ENSMUSP00000118786
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	261	1.3e-26	PFAM
Pfam:Sugar_tr	71	228	9.3e-10	PFAM
Pfam:TRI12	76	232	3.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155577

SMART Domains

Protein: ENSMUSP00000115204
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	269	1.1e-27	PFAM
Pfam:Sugar_tr	71	228	9.6e-10	PFAM
Pfam:TRI12	76	232	3.8e-9	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,923,175 (GRCm39)	I670V	unknown	Het
Bcan	G	T	3: 87,904,405 (GRCm39)	T117K	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cbx8	C	A	11: 118,929,754 (GRCm39)	V280F	probably damaging	Het
Ccdc117	A	T	11: 5,484,350 (GRCm39)	S163R	possibly damaging	Het
Ccdc17	A	T	4: 116,456,823 (GRCm39)	I509F	probably damaging	Het
Cdon	T	C	9: 35,403,163 (GRCm39)	V1091A	probably benign	Het
Cntnap5b	C	T	1: 100,311,310 (GRCm39)	T972I	probably damaging	Het
Dlg2	T	C	7: 90,740,240 (GRCm39)	L9P	possibly damaging	Het
Dnah6	T	A	6: 73,051,634 (GRCm39)	R3053S	probably benign	Het
Dnah7a	T	A	1: 53,512,112 (GRCm39)	N2983I	probably damaging	Het
Dnah7c	T	C	1: 46,711,536 (GRCm39)	Y2588H	probably damaging	Het
Dpysl5	A	G	5: 30,902,811 (GRCm39)	D81G	probably damaging	Het
Dscaml1	A	G	9: 45,653,884 (GRCm39)	D1387G	probably benign	Het
Exd1	G	T	2: 119,369,348 (GRCm39)	T89K	possibly damaging	Het
Ezh2	T	A	6: 47,522,745 (GRCm39)	R364*	probably null	Het
Fam161b	C	T	12: 84,404,369 (GRCm39)	D104N	probably benign	Het
Fbxw8	C	A	5: 118,215,763 (GRCm39)	V416L	probably benign	Het
Flnc	A	T	6: 29,450,849 (GRCm39)	D1499V	probably benign	Het
Fmc1	A	T	6: 38,516,115 (GRCm39)	R54*	probably null	Het
Fzr1	A	G	10: 81,206,942 (GRCm39)	F61S	probably damaging	Het
Get4	T	G	5: 139,251,393 (GRCm39)	C160G	probably benign	Het
Gm32742	G	A	9: 51,055,675 (GRCm39)	R1330*	probably null	Het
Gnat3	G	A	5: 18,220,312 (GRCm39)	A225T	possibly damaging	Het
Gucy2c	A	G	6: 136,704,892 (GRCm39)	Y541H	probably damaging	Het
Hand2	A	G	8: 57,775,461 (GRCm39)	T174A	probably benign	Het
Helb	T	C	10: 119,927,522 (GRCm39)	T863A	probably damaging	Het
Hoxa7	A	T	6: 52,194,993 (GRCm39)	V2D	unknown	Het
Ifi44	G	A	3: 151,444,978 (GRCm39)	R325*	probably null	Het
Igfn1	C	T	1: 135,895,520 (GRCm39)	G1682E	probably damaging	Het
Itch	A	G	2: 155,010,627 (GRCm39)	N32D	probably benign	Het
Kif26b	T	C	1: 178,744,923 (GRCm39)	V1673A	probably benign	Het
Map1a	A	T	2: 121,135,418 (GRCm39)	D2078V	probably benign	Het
Mgat4b	G	T	11: 50,121,512 (GRCm39)	V35L	probably benign	Het
Micu3	G	A	8: 40,761,205 (GRCm39)	M38I	probably benign	Het
Myo15a	A	T	11: 60,387,241 (GRCm39)	H706L	probably damaging	Het
Ndc1	A	G	4: 107,226,017 (GRCm39)	T42A	probably benign	Het
Nfat5	T	A	8: 108,095,152 (GRCm39)	M1131K	probably damaging	Het
Or51k1	G	T	7: 103,661,632 (GRCm39)	Y92*	probably null	Het
Otogl	A	G	10: 107,634,597 (GRCm39)	V1413A	probably damaging	Het
Palb2	T	A	7: 121,711,224 (GRCm39)	M967L	possibly damaging	Het
Pira12	G	A	7: 3,898,257 (GRCm39)	T355I	probably benign	Het
Ppa2	A	G	3: 133,053,904 (GRCm39)	K198R	probably damaging	Het
Prokr1	T	C	6: 87,565,756 (GRCm39)	T30A	probably benign	Het
Prss50	C	T	9: 110,687,128 (GRCm39)	R24C	unknown	Het
Rbm17	T	C	2: 11,605,441 (GRCm39)	T38A	possibly damaging	Het
Rps6ka5	G	A	12: 100,541,500 (GRCm39)	Q420*	probably null	Het
Senp6	G	T	9: 80,025,794 (GRCm39)	R448L	probably damaging	Het
Senp7	T	C	16: 55,999,391 (GRCm39)	I838T	probably damaging	Het
Sf3b2	C	T	19: 5,337,242 (GRCm39)	S329N	possibly damaging	Het
Slc13a4	A	T	6: 35,245,814 (GRCm39)	D610E	probably benign	Het
Slc24a2	A	G	4: 87,145,337 (GRCm39)	L239P	probably damaging	Het
Slc39a5	T	A	10: 128,232,884 (GRCm39)	H389L	probably damaging	Het
Syt4	A	G	18: 31,577,072 (GRCm39)	L94P	probably damaging	Het
Tgm5	A	G	2: 120,879,356 (GRCm39)	V560A	probably benign	Het
Thoc5	A	G	11: 4,876,115 (GRCm39)	T623A	probably damaging	Het
Tm7sf2	C	T	19: 6,113,074 (GRCm39)	V376I	probably benign	Het
Tmem268	T	A	4: 63,496,141 (GRCm39)	V194E	probably damaging	Het
Tpr	C	A	1: 150,290,564 (GRCm39)	R798S	probably damaging	Het
Trpv5	G	T	6: 41,630,182 (GRCm39)	T685K	possibly damaging	Het
Ttn	A	T	2: 76,584,774 (GRCm39)	N22141K	probably damaging	Het
Txnrd2	T	C	16: 18,275,048 (GRCm39)	I353T	unknown	Het
Upk1a	A	G	7: 30,303,043 (GRCm39)	Y252H	probably damaging	Het
Vmn2r118	A	G	17: 55,915,642 (GRCm39)	I436T	probably benign	Het
Vmn2r76	T	A	7: 85,874,479 (GRCm39)	I833F	possibly damaging	Het
Zfp277	T	C	12: 40,379,577 (GRCm39)	H319R	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
R8850:Nop14	UTSW	5	34,817,352 (GRCm39)	missense	probably benign	0.05
R9173:Nop14	UTSW	5	34,806,776 (GRCm39)	missense	probably damaging	0.96
U15987:Nop14	UTSW	5	34,815,295 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGGACTCAGTTTCAGTTCC -3'
(R):5'- GCTTATTTGGACAGTTGGAATTAGC -3'

Sequencing Primer
(F):5'- GGACTCAGTTTCAGTTCCCAATC -3'
(R):5'- GACAGTTGGAATTAGCTCACTG -3'

Posted On

2020-10-20