Mutagenetix > Incidental Mutation

Incidental Mutation 'R6284:Nop14'

529324

Institutional Source

Beutler Lab

Gene Symbol

Nop14

Ensembl Gene

ENSMUSG00000036693

Gene Name

NOP14 nucleolar protein

Synonyms

Nol14, 2610033H07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34638536-34660148 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 34641491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115204 (fasta)

Gene Model

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

AlphaFold

Q8R3N1

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000041364

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693

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

Predicted Effect

probably null
Transcript: ENSMUST00000041364

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693

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

Predicted Effect

probably null
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000137744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138212

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000151247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152393

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000201897

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,347,454	G16C	probably damaging	Het
Abca7	G	A	10: 80,004,410	V801I	probably benign	Het
Adgrl2	A	T	3: 148,826,507	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,844,568	T423A	possibly damaging	Het
Anpep	T	A	7: 79,825,802	D111V	probably damaging	Het
Atm	T	A	9: 53,445,376		probably null	Het
Atp5a1	T	A	18: 77,778,468	S106T	probably benign	Het
Atp5k	T	C	5: 108,434,059	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605		probably null	Het
Bclaf1	T	G	10: 20,322,160		probably null	Het
Bod1l	A	G	5: 41,818,787	V1728A	probably benign	Het
Braf	A	G	6: 39,688,282	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,304,437	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,869,653		probably null	Het
Cdh26	G	C	2: 178,449,884	G79R	probably damaging	Het
Cenpf	A	G	1: 189,652,742	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,451,796	F863L	probably damaging	Het
Clstn2	C	T	9: 97,454,674	G917S	probably benign	Het
Col6a6	A	T	9: 105,727,227		probably null	Het
Cul5	G	A	9: 53,623,735	P596L	probably damaging	Het
Dst	A	T	1: 34,229,085	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,814,041	E69G	possibly damaging	Het
Erich2	T	A	2: 70,539,684	I402N	probably damaging	Het
Fam160a1	G	A	3: 85,672,688	P737S	probably benign	Het
Fam162b	T	C	10: 51,585,502	K155R	probably damaging	Het
Glb1l2	A	T	9: 26,767,448	S466T	probably benign	Het
Gm21994	T	A	2: 150,255,278	Y77F	possibly damaging	Het
Gm5724	T	C	6: 141,725,393	D451G	probably damaging	Het
Ikbkap	A	T	4: 56,762,281	I1106K	probably damaging	Het
Kazn	G	A	4: 142,117,197	L402F	probably benign	Het
Kcnj13	A	T	1: 87,386,886	S205T	probably damaging	Het
Lama1	T	A	17: 67,810,096	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,656,104	C41G	unknown	Het
Lyar	T	A	5: 38,225,995	W77R	probably damaging	Het
March11	G	A	15: 26,409,346	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,138,787	F869L	probably benign	Het
Myom1	T	A	17: 71,022,892	Y6*	probably null	Het
Myzap	T	C	9: 71,558,925	I150V	probably benign	Het
Oprl1	T	A	2: 181,717,991		probably benign	Het
Pacsin1	T	C	17: 27,708,504	L432P	probably damaging	Het
Peak1	A	G	9: 56,260,296	L116P	probably benign	Het
Plcb2	C	T	2: 118,717,301	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,734,984	I269N	probably damaging	Het
Pnpla7	C	A	2: 25,016,618	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,370,417	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,161,187	T113K	probably benign	Het
Rrp7a	A	T	15: 83,121,860	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,589,921		probably null	Het
Stxbp5	A	C	10: 9,767,179	S1059A	probably benign	Het
Stxbp5	C	A	10: 9,767,187	G1056V	probably damaging	Het
Taldo1	T	A	7: 141,398,583	S149T	possibly damaging	Het
Tlr1	T	C	5: 64,927,099	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,335	S783P	probably damaging	Het
Trap1	A	G	16: 4,060,809	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,600	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,943,962	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,080,833	Y398H	probably damaging	Het
Ube2z	A	G	11: 96,050,407	F303S	probably damaging	Het
Vmn1r211	A	G	13: 22,852,084	S138P	probably damaging	Het
Zfp93	T	A	7: 24,275,629	C346*	probably null	Het
Zfp938	A	T	10: 82,227,566	S52R	possibly damaging	Het
Zp1	A	T	19: 10,916,503	L446Q	probably damaging	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
IGL03189:Nop14	APN	5	34650628	unclassified	probably benign
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
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
R8428:Nop14	UTSW	5	34641440	missense	probably damaging	0.99
R8850:Nop14	UTSW	5	34660008	missense	probably benign	0.05
R9173:Nop14	UTSW	5	34649432	missense	probably damaging	0.96
U15987:Nop14	UTSW	5	34657951	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGTGTGATTTGCCTCAG -3'
(R):5'- GGAGCTTTCCTCACAGGTATC -3'

Sequencing Primer
(F):5'- GATTTGCCTCAGTCGCTGTCAG -3'
(R):5'- CCTCCTGAATGCTGGCATTAAAGG -3'

Posted On

2018-07-27