Mutagenetix > Incidental Mutation

Incidental Mutation 'R7954:Nop14'

649713

Institutional Source

Beutler Lab

Gene Symbol

Nop14

Ensembl Gene

ENSMUSG00000036693

Gene Name

NOP14 nucleolar protein

Synonyms

Nol14, 2610033H07Rik

MMRRC Submission

045998-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7954 (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 34807729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 411 (P411L)

Ref Sequence

ENSEMBL: ENSMUSP00000038382 (fasta)

Gene Model

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

AlphaFold

Q8R3N1

Predicted Effect

probably benign
Transcript: ENSMUST00000041364
AA Change: P411L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: P411L

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: 99.9%
10x: 99.6%
20x: 98.8%

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
Aatk	C	T	11: 119,903,169 (GRCm39)	C409Y	possibly damaging	Het
Acsm2	C	T	7: 119,179,952 (GRCm39)	T390I	probably damaging	Het
Adam20	T	C	8: 41,249,581 (GRCm39)	Y564H	probably damaging	Het
Adcy6	A	G	15: 98,494,773 (GRCm39)		probably null	Het
Alms1	T	C	6: 85,598,144 (GRCm39)	V990A	probably damaging	Het
Anapc2	T	A	2: 25,164,712 (GRCm39)	V318E	probably damaging	Het
Ano6	G	T	15: 95,863,702 (GRCm39)	A741S	possibly damaging	Het
Apc	A	G	18: 34,447,321 (GRCm39)	S1406G	probably damaging	Het
Cemip2	T	A	19: 21,770,264 (GRCm39)	I84N	probably damaging	Het
Cfi	G	A	3: 129,662,234 (GRCm39)		probably null	Het
Clcn1	A	T	6: 42,263,625 (GRCm39)		probably benign	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Dnmbp	A	T	19: 43,890,742 (GRCm39)	W342R	probably benign	Het
Dok5	T	A	2: 170,674,993 (GRCm39)		probably null	Het
Eno3	T	C	11: 70,552,006 (GRCm39)	I284T	probably benign	Het
Ep400	T	C	5: 110,816,599 (GRCm39)	T2767A	possibly damaging	Het
Epb41l4b	A	G	4: 57,088,034 (GRCm39)	V162A	probably damaging	Het
Fat3	A	G	9: 15,909,708 (GRCm39)	I2098T	probably damaging	Het
Fbxl13	T	C	5: 21,748,767 (GRCm39)	N384S	probably benign	Het
Fbxo9	A	G	9: 78,008,826 (GRCm39)	L78P	probably benign	Het
Glis1	G	A	4: 107,476,854 (GRCm39)	R525H	possibly damaging	Het
Gpr15	T	G	16: 58,539,047 (GRCm39)	D14A	probably benign	Het
Gpr156	T	C	16: 37,807,920 (GRCm39)	I189T	probably damaging	Het
H6pd	T	C	4: 150,067,283 (GRCm39)	I376V	probably benign	Het
Hs6st3	T	C	14: 120,106,522 (GRCm39)	V310A	probably damaging	Het
Htr1b	A	G	9: 81,513,998 (GRCm39)	L203P	probably damaging	Het
Kif26b	A	T	1: 178,696,944 (GRCm39)	I531F	probably damaging	Het
Krtcap3	T	C	5: 31,410,015 (GRCm39)	L166P	probably damaging	Het
Lmod1	A	C	1: 135,252,794 (GRCm39)	D16A	probably damaging	Het
Lrp2	T	G	2: 69,333,867 (GRCm39)	N1458T	possibly damaging	Het
Mocs1	G	A	17: 49,761,799 (GRCm39)	G631E	possibly damaging	Het
Nr2f1	A	C	13: 78,338,113 (GRCm39)	D334E	probably damaging	Het
Or5al7	A	G	2: 85,993,212 (GRCm39)	L27P	probably damaging	Het
Or5p51	T	C	7: 107,444,119 (GRCm39)	N274D	probably benign	Het
Paqr9	G	A	9: 95,442,681 (GRCm39)	V224M	probably damaging	Het
Pkd2l1	T	C	19: 44,142,651 (GRCm39)	T464A	probably benign	Het
Prss58	T	C	6: 40,872,543 (GRCm39)	R188G	possibly damaging	Het
Rapgef2	G	A	3: 78,977,454 (GRCm39)	R1150*	probably null	Het
Rgs22	A	C	15: 36,082,148 (GRCm39)	F653V	possibly damaging	Het
Spata2	T	C	2: 167,325,857 (GRCm39)	T321A	probably benign	Het
St3gal1	A	T	15: 66,984,422 (GRCm39)	F118I	probably damaging	Het
Styxl2	C	T	1: 165,926,849 (GRCm39)	S921N	probably benign	Het
Tasor	T	C	14: 27,169,481 (GRCm39)		probably null	Het
Tex35	C	T	1: 156,927,742 (GRCm39)	D143N	probably damaging	Het
Tll1	G	A	8: 64,571,568 (GRCm39)	T171I	probably damaging	Het
Umodl1	A	T	17: 31,205,361 (GRCm39)	Q652L	probably benign	Het
Usp54	A	G	14: 20,611,981 (GRCm39)	L945P	probably benign	Het
Vars1	A	G	17: 35,234,960 (GRCm39)	H1263R	probably benign	Het
Vmn1r202	A	T	13: 22,685,871 (GRCm39)	M182K	probably benign	Het
Vmn1r78	T	A	7: 11,887,227 (GRCm39)	C279*	probably null	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
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'- TCACAACTGCATCTCCAGGG -3'
(R):5'- CCACGTTGCCATGGTATTCTG -3'

Sequencing Primer
(F):5'- GAGGGAGACTCGCAAGTACGC -3'
(R):5'- CTGCAGAATGTTCTAACTGAGGTCAG -3'

Posted On

2020-09-15