Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03189:Nop14'

412593

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nop14

Ensembl Gene

ENSMUSG00000036693

Gene Name

NOP14 nucleolar protein

Synonyms

Nol14, 2610033H07Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

34638536-34660148 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 34650628 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000041364

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152393

Predicted Effect

probably benign
Transcript: ENSMUST00000201897

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,823		probably benign	Het
Abcb1b	A	G	5: 8,845,814	T916A	probably benign	Het
Adam22	A	T	5: 8,111,897	Y50*	probably null	Het
Adprhl2	T	C	4: 126,317,294		probably benign	Het
Ahnak	G	A	19: 9,011,239	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,687,501	D125G	possibly damaging	Het
Bmp3	A	T	5: 98,872,720	Q334L	probably benign	Het
Camsap2	A	T	1: 136,281,662	D697E	probably damaging	Het
Car11	A	G	7: 45,702,455	T103A	probably damaging	Het
Cecr2	T	A	6: 120,762,430	S1373T	probably benign	Het
Cenpm	A	G	15: 82,234,433	V160A	possibly damaging	Het
Chl1	A	T	6: 103,683,207	I365F	possibly damaging	Het
Col20a1	C	T	2: 181,009,407	Q1089*	probably null	Het
Csf1r	A	T	18: 61,105,986	T13S	probably benign	Het
Fam13a	T	C	6: 58,956,858	E249G	probably damaging	Het
Fgd6	G	A	10: 94,044,456	V391I	probably benign	Het
Fhdc1	G	A	3: 84,455,061		probably benign	Het
Fn3krp	T	C	11: 121,429,630	I267T	probably damaging	Het
Fras1	A	T	5: 96,743,071	I2820F	probably benign	Het
Fyb2	A	G	4: 105,015,742	I771V	probably damaging	Het
Glis1	A	G	4: 107,615,051	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,913,428	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,063,087		probably null	Het
Iqgap1	T	A	7: 80,713,842	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,625,164	D181G	probably damaging	Het
Lrp2	T	C	2: 69,438,478		probably benign	Het
Mark1	T	C	1: 184,919,693	N95S	probably damaging	Het
Mbd5	A	G	2: 49,257,751	K658E	probably damaging	Het
Mcm6	C	T	1: 128,344,302	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,641,855	D187G	probably benign	Het
Mrpl19	G	T	6: 81,961,993	S276*	probably null	Het
Ncoa2	G	A	1: 13,190,136	T105M	probably damaging	Het
Olfr1018	A	G	2: 85,823,558	T196A	probably benign	Het
Olfr1152	G	A	2: 87,868,215	A75T	possibly damaging	Het
Olfr170	T	C	16: 19,606,591	T26A	probably benign	Het
Otud7b	G	A	3: 96,155,478	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,336,152	V25M	probably damaging	Het
Prpf39	G	T	12: 65,043,302	G5*	probably null	Het
Serpinb9d	T	C	13: 33,202,912	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,468,530	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452	I55T	probably benign	Het
Spata13	T	C	14: 60,691,614	I207T	possibly damaging	Het
Suco	T	C	1: 161,857,337		probably benign	Het
Svs2	A	G	2: 164,237,112	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,285,386	I313V	probably benign	Het
Tmem45a	A	T	16: 56,811,573	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,730,052		probably benign	Het
Ttc26	C	T	6: 38,425,231	P553S	probably benign	Het
Vmn2r4	C	A	3: 64,389,168	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,760,601	T602I	probably benign	Het

Other mutations in Nop14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Nop14	APN	5	34641313	unclassified	probably benign
IGL00985:Nop14	APN	5	34644789	missense	probably damaging	0.98
IGL01626:Nop14	APN	5	34649345	nonsense	probably null
IGL02676:Nop14	APN	5	34639221	missense	probably damaging	0.97
IGL03047:Nop14	UTSW	5	34660014	missense	possibly damaging	0.93
R0025:Nop14	UTSW	5	34643953	missense	probably benign	0.08
R0831:Nop14	UTSW	5	34650520	missense	possibly damaging	0.70
R1027:Nop14	UTSW	5	34644004	missense	probably damaging	0.99
R1252:Nop14	UTSW	5	34650555	missense	probably benign
R1616:Nop14	UTSW	5	34650413	missense	possibly damaging	0.46
R1845:Nop14	UTSW	5	34650328	missense	possibly damaging	0.82
R2032:Nop14	UTSW	5	34659939	missense	possibly damaging	0.65
R3693:Nop14	UTSW	5	34654438	missense	probably damaging	0.98
R4033:Nop14	UTSW	5	34650517	missense	probably benign
R4168:Nop14	UTSW	5	34656744	missense	probably damaging	0.99
R4172:Nop14	UTSW	5	34650607	missense	probably damaging	0.99
R4618:Nop14	UTSW	5	34639218	missense	probably damaging	1.00
R4936:Nop14	UTSW	5	34652393	missense	probably damaging	1.00
R6067:Nop14	UTSW	5	34657951	missense	probably damaging	1.00
R6075:Nop14	UTSW	5	34659891	missense	probably damaging	1.00
R6078:Nop14	UTSW	5	34657951	missense	probably damaging	1.00
R6284:Nop14	UTSW	5	34641491	splice site	probably null
R7295:Nop14	UTSW	5	34639032	missense	probably damaging	0.99
R7585:Nop14	UTSW	5	34644780	missense	probably damaging	1.00
R7626:Nop14	UTSW	5	34651791	missense	probably damaging	0.99
R7954:Nop14	UTSW	5	34650385	missense	probably benign
R8079:Nop14	UTSW	5	34654461	missense	probably damaging	1.00
U15987:Nop14	UTSW	5	34657951	missense	probably damaging	1.00

Posted On

2016-08-02