Mutagenetix > Incidental Mutation

Incidental Mutation 'R2032:Nop14'

221339

Institutional Source

Beutler Lab

Gene Symbol

Nop14

Ensembl Gene

ENSMUSG00000036693

Gene Name

NOP14 nucleolar protein

Synonyms

Nol14, 2610033H07Rik

MMRRC Submission

040039-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R2032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34795880-34817492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34817283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 36 (V36A)

Ref Sequence

ENSEMBL: ENSMUSP00000038382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001112] [ENSMUST00000041364] [ENSMUST00000074651]

AlphaFold

Q8R3N1

Predicted Effect

probably benign
Transcript: ENSMUST00000001112

SMART Domains

Protein: ENSMUSP00000001112
Gene: ENSMUSG00000052783

Domain	Start	End	E-Value	Type
RGS	51	171	1.61e-31	SMART
S_TKc	186	448	7.78e-85	SMART
S_TK_X	449	528	2.98e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041364
AA Change: V36A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: V36A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000074651

SMART Domains

Protein: ENSMUSP00000074223
Gene: ENSMUSG00000052783

Domain	Start	End	E-Value	Type
RGS	51	163	1.39e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148588

SMART Domains

Protein: ENSMUSP00000122826
Gene: ENSMUSG00000052783

Domain	Start	End	E-Value	Type
PDB:3NYO\|B	2	80	2e-27	PDB
SCOP:d1dk8a_	32	79	3e-5	SMART
Blast:RGS	44	81	3e-18	BLAST

Meta Mutation Damage Score

0.1133

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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
Abca3	G	A	17: 24,585,056 (GRCm39)		probably benign	Het
Abca7	C	T	10: 79,844,071 (GRCm39)	T1359M	probably damaging	Het
Acox2	A	G	14: 8,246,400 (GRCm38)	S464P	probably benign	Het
Adgrf1	C	T	17: 43,622,166 (GRCm39)	T801I	probably damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Akap12	C	A	10: 4,306,673 (GRCm39)	A1161D	possibly damaging	Het
Ankrd36	T	A	11: 5,578,616 (GRCm39)	V635D	possibly damaging	Het
Ankrd44	C	T	1: 54,762,168 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,203,373 (GRCm39)	V28A	probably benign	Het
Atxn3	A	T	12: 101,908,453 (GRCm39)	L133*	probably null	Het
Bmp2	T	C	2: 133,403,216 (GRCm39)	S256P	probably benign	Het
Ccdc121rt3	G	A	5: 112,502,978 (GRCm39)	T242I	possibly damaging	Het
Ccdc138	T	A	10: 58,348,984 (GRCm39)	Y177N	possibly damaging	Het
Ccdc168	C	A	1: 44,100,900 (GRCm39)	C66F	possibly damaging	Het
Cdcp3	G	A	7: 130,844,781 (GRCm39)	G674E	probably damaging	Het
Cep164	C	T	9: 45,682,898 (GRCm39)	V931M	probably damaging	Het
Cfhr4	T	A	1: 139,660,993 (GRCm39)		probably benign	Het
CK137956	T	C	4: 127,839,069 (GRCm39)	T450A	probably benign	Het
Col23a1	G	A	11: 51,450,835 (GRCm39)	G215D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd6a	T	C	14: 26,325,904 (GRCm39)	M5T	probably benign	Het
Dnajc6	T	G	4: 101,471,435 (GRCm39)	I284S	probably benign	Het
Dolpp1	C	T	2: 30,282,453 (GRCm39)	A2V	probably damaging	Het
Eml2	C	T	7: 18,936,480 (GRCm39)	T711I	probably benign	Het
Evi5l	T	C	8: 4,260,622 (GRCm39)	D1065G	probably damaging	Het
Fam110b	G	T	4: 5,799,460 (GRCm39)	A293S	probably benign	Het
Fap	A	G	2: 62,372,581 (GRCm39)	V266A	probably benign	Het
Fgf10	A	T	13: 118,852,131 (GRCm39)	Y71F	probably damaging	Het
Gm3443	G	T	19: 21,533,164 (GRCm39)	G43C	probably damaging	Het
Gpr146	T	C	5: 139,364,902 (GRCm39)		probably benign	Het
Hif3a	A	T	7: 16,785,104 (GRCm39)	L172H	probably damaging	Het
Mas1	T	C	17: 13,061,457 (GRCm39)		probably benign	Het
Nlrp5	G	A	7: 23,120,937 (GRCm39)	R717Q	probably damaging	Het
Or10v5	C	T	19: 11,805,664 (GRCm39)	C242Y	probably damaging	Het
Or51a39	A	T	7: 102,363,083 (GRCm39)	I179N	probably benign	Het
Or7a41	T	A	10: 78,871,163 (GRCm39)	F178I	possibly damaging	Het
Parp4	T	A	14: 56,866,553 (GRCm39)	I1039K	possibly damaging	Het
Pate12	T	C	9: 36,344,195 (GRCm39)		probably null	Het
Pold2	A	T	11: 5,826,757 (GRCm39)	I59N	probably benign	Het
Prr36	T	C	8: 4,264,304 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,716,088 (GRCm39)		probably benign	Het
Recql	C	T	6: 142,313,009 (GRCm39)	G403R	probably damaging	Het
Serpina3m	T	A	12: 104,355,928 (GRCm39)	D198E	probably benign	Het
Sik2	A	T	9: 50,906,947 (GRCm39)	Y93N	probably damaging	Het
Slc27a3	C	T	3: 90,294,704 (GRCm39)	R389H	probably damaging	Het
Slc29a1	A	T	17: 45,897,035 (GRCm39)	M417K	probably damaging	Het
Syt13	A	G	2: 92,783,746 (GRCm39)	K339E	probably damaging	Het
Tmem237	A	T	1: 59,148,265 (GRCm39)	H163Q	probably benign	Het
Tram2	C	T	1: 21,074,180 (GRCm39)	G253R	probably null	Het
Trpv1	A	G	11: 73,129,211 (GRCm39)	T43A	probably benign	Het
Ugt2b34	A	G	5: 87,039,131 (GRCm39)	I510T	probably damaging	Het
Vmn1r224	C	A	17: 20,639,658 (GRCm39)	D78E	probably benign	Het
Vmn1r78	A	T	7: 11,887,210 (GRCm39)	I274L	probably benign	Het
Wdfy4	C	T	14: 32,868,946 (GRCm39)	V361I	probably benign	Het
Zpbp2	A	T	11: 98,445,534 (GRCm39)	K165N	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
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
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'- GTTATGCCTCAGTCCTGATCG -3'
(R):5'- CCTATGCACGAGTTTCTTGAAC -3'

Sequencing Primer
(F):5'- ACTTTCATAAGACCGGGCTG -3'
(R):5'- GAACTGCTTGGTCTGTACGCAC -3'

Posted On

2014-08-25