Mutagenetix > Incidental Mutation

Incidental Mutation 'R0831:Nop14'

77530

Institutional Source

Beutler Lab

Gene Symbol

Nop14

Ensembl Gene

ENSMUSG00000036693

Gene Name

NOP14 nucleolar protein

Synonyms

Nol14, 2610033H07Rik

MMRRC Submission

039010-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R0831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34795880-34817492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34807864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 366 (E366G)

Ref Sequence

ENSEMBL: ENSMUSP00000038382 (fasta)

Gene Model

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

AlphaFold

Q8R3N1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041364
AA Change: E366G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: E366G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.0%

Validation Efficiency

95% (82/86)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	C	T	7: 12,284,523 (GRCm39)		probably benign	Het
3425401B19Rik	T	C	14: 32,384,228 (GRCm39)	N579S	probably benign	Het
Adck1	G	T	12: 88,335,118 (GRCm39)	M1I	probably null	Het
Adgra3	A	T	5: 50,128,144 (GRCm39)	I779N	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Afg3l2	A	C	18: 67,554,297 (GRCm39)	F468L	probably damaging	Het
Alms1	T	A	6: 85,605,502 (GRCm39)	I2384N	probably benign	Het
Ankrd13b	A	T	11: 77,363,585 (GRCm39)	S244R	probably damaging	Het
Aox1	T	A	1: 58,378,842 (GRCm39)	H1030Q	probably benign	Het
Ap1b1	A	G	11: 4,973,092 (GRCm39)		probably benign	Het
Atxn2l	A	G	7: 126,098,332 (GRCm39)	S187P	probably damaging	Het
B4galt4	G	T	16: 38,588,341 (GRCm39)	E57D	probably benign	Het
Cad	T	C	5: 31,224,944 (GRCm39)	V949A	probably damaging	Het
Cadps2	C	T	6: 23,321,739 (GRCm39)	S1051N	possibly damaging	Het
Ccdc66	C	T	14: 27,219,313 (GRCm39)	V148I	probably benign	Het
Ccser1	C	T	6: 61,400,045 (GRCm39)	P55S	probably damaging	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Cep95	A	G	11: 106,705,530 (GRCm39)	D548G	probably benign	Het
Chil3	A	G	3: 106,057,063 (GRCm39)	Y294H	probably benign	Het
Chmp5	A	G	4: 40,949,500 (GRCm39)	D39G	probably damaging	Het
Chrd	T	A	16: 20,560,059 (GRCm39)	F887I	probably damaging	Het
Col24a1	G	T	3: 145,034,520 (GRCm39)	G580V	probably damaging	Het
Col6a2	A	T	10: 76,439,939 (GRCm39)	N655K	probably damaging	Het
Ctsf	A	T	19: 4,909,868 (GRCm39)	Y416F	possibly damaging	Het
Dennd5a	A	C	7: 109,533,961 (GRCm39)	V77G	probably damaging	Het
Dna2	A	T	10: 62,795,108 (GRCm39)	K460*	probably null	Het
Dnah17	A	T	11: 117,951,097 (GRCm39)	M2842K	probably damaging	Het
Dnajc13	C	A	9: 104,049,811 (GRCm39)	G1765V	probably damaging	Het
Donson	A	C	16: 91,480,651 (GRCm39)	C243W	probably damaging	Het
Dpp8	A	T	9: 64,985,961 (GRCm39)	N817I	possibly damaging	Het
Eef1d	G	A	15: 75,768,655 (GRCm39)		probably benign	Het
Esf1	T	A	2: 140,010,279 (GRCm39)	D19V	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gm9867	C	A	4: 140,049,799 (GRCm39)	A128S	unknown	Het
Igsf23	G	T	7: 19,675,662 (GRCm39)		probably benign	Het
Inhca	T	C	9: 103,146,978 (GRCm39)	H292R	possibly damaging	Het
Kdm7a	C	A	6: 39,143,699 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,453,609 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,537,990 (GRCm39)	N1229D	possibly damaging	Het
Mrps11	C	A	7: 78,441,611 (GRCm39)		probably benign	Het
Mtmr2	T	A	9: 13,707,409 (GRCm39)	D248E	probably damaging	Het
Myrfl	C	A	10: 116,619,114 (GRCm39)	S748I	probably benign	Het
Or13c3	T	G	4: 52,855,764 (GRCm39)	I250L	possibly damaging	Het
Or2w25	C	T	11: 59,504,480 (GRCm39)	T230I	possibly damaging	Het
Or52z13	A	G	7: 103,247,338 (GRCm39)	I272V	probably benign	Het
Or7e177	T	A	9: 20,211,861 (GRCm39)	C123S	probably benign	Het
Or8g2b	C	T	9: 39,751,579 (GRCm39)	P283L	probably damaging	Het
Phykpl	G	T	11: 51,476,366 (GRCm39)	E29*	probably null	Het
Plppr4	A	G	3: 117,125,295 (GRCm39)		probably null	Het
Prmt2	A	C	10: 76,043,641 (GRCm39)		probably benign	Het
Prodh2	T	A	7: 30,193,649 (GRCm39)	Y114*	probably null	Het
Prr23a2	C	A	9: 98,738,917 (GRCm39)	H92N	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rdx	C	A	9: 51,977,117 (GRCm39)	A122E	probably damaging	Het
Rspo3	T	G	10: 29,330,253 (GRCm39)	D236A	unknown	Het
Sdk2	A	T	11: 113,723,084 (GRCm39)	D1302E	probably damaging	Het
Sipa1	A	T	19: 5,710,382 (GRCm39)	D209E	probably damaging	Het
Sirpa	T	G	2: 129,469,856 (GRCm39)		probably benign	Het
Ska1	A	C	18: 74,330,570 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,668,331 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,631,172 (GRCm39)	V602A	probably benign	Het
Slco2a1	T	C	9: 102,959,533 (GRCm39)	V543A	probably damaging	Het
Sorcs3	A	T	19: 48,682,433 (GRCm39)	L489F	probably damaging	Het
Sorl1	T	C	9: 41,982,365 (GRCm39)		probably benign	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Spindoc	G	T	19: 7,352,100 (GRCm39)	N82K	probably benign	Het
Stk17b	C	A	1: 53,796,651 (GRCm39)	C372F	probably damaging	Het
Tbck	A	G	3: 132,428,052 (GRCm39)		probably benign	Het
Thoc1	C	T	18: 9,963,267 (GRCm39)	T127I	probably benign	Het
Togaram2	G	T	17: 72,023,439 (GRCm39)	R765L	probably damaging	Het
Tprg1	A	G	16: 25,136,219 (GRCm39)	Y70C	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	T	C	17: 31,215,325 (GRCm39)	Y1050H	probably damaging	Het
Vmn1r205	T	A	13: 22,776,586 (GRCm39)	D172V	probably benign	Het
Vmn1r79	A	T	7: 11,910,990 (GRCm39)	N291Y	probably damaging	Het
Vmn2r112	T	A	17: 22,833,980 (GRCm39)	N549K	probably damaging	Het
Vrk3	T	A	7: 44,414,227 (GRCm39)	L241Q	probably damaging	Het
Zc3h7a	A	G	16: 10,969,744 (GRCm39)	S386P	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
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
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'- AGCTTTCTGGTCATCCTTTGGCAAC -3'
(R):5'- CACTTGGGGAACTAACGGAAGCAC -3'

Sequencing Primer
(F):5'- TGGCAACTTCCCCCCAG -3'
(R):5'- gaACTAACGGAAGCACTATGGG -3'

Posted On

2013-10-16