Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Nop53'

356800

Institutional Source

Beutler Lab

Gene Symbol

Nop53

Ensembl Gene

ENSMUSG00000041560

Gene Name

NOP53 ribosome biogenesis factor

Synonyms

Gltscr2, 9430097C02Rik

MMRRC Submission

041974-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15936183-15946074 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15942887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 100 (K100N)

Ref Sequence

ENSEMBL: ENSMUSP00000043981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044158] [ENSMUST00000098799]

AlphaFold

Q8BK35

Predicted Effect

probably benign
Transcript: ENSMUST00000044158
AA Change: K100N

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043981
Gene: ENSMUSG00000041560
AA Change: K100N

Domain	Start	End	E-Value	Type
Pfam:Nop53	41	451	6e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098799

SMART Domains

Protein: ENSMUSP00000096397
Gene: ENSMUSG00000074364

Domain	Start	End	E-Value	Type
Pfam:EHD_N	24	56	4.1e-19	PFAM
Pfam:MMR_HSR1	60	220	2.2e-7	PFAM
Pfam:Dynamin_N	61	221	2.4e-14	PFAM
EH	443	536	2.96e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198688

SMART Domains

Protein: ENSMUSP00000143400
Gene: ENSMUSG00000041560

Domain	Start	End	E-Value	Type
Pfam:Nop53	1	156	1.4e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200455

Meta Mutation Damage Score

0.0992

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

MGI Phenotype

PHENOTYPE: Homozygous knockout is pre-implantation embryonic lethal. Heterozygous knockout reduces incidence of chemically induced skin papilloma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,721,305	M723K	probably benign	Het
A530053G22Rik	A	G	6: 60,402,101		noncoding transcript	Het
Abcc2	A	T	19: 43,810,481	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,571,463	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,563,523	Y332C	probably damaging	Het
Ambn	C	T	5: 88,467,707	L317F	probably damaging	Het
Amn1	T	C	6: 149,185,113	Y17C	probably benign	Het
Apoa5	T	C	9: 46,270,295	V223A	probably damaging	Het
BC048403	T	C	10: 121,740,007	V11A	probably damaging	Het
Best3	A	T	10: 117,024,794	H653L	probably benign	Het
Btnl2	C	A	17: 34,363,195	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,362,056	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,705,635	D698V	probably damaging	Het
Cd33	T	C	7: 43,529,495	T307A	probably benign	Het
Cdk8	C	T	5: 146,292,666	S230L	probably benign	Het
Cfap69	C	T	5: 5,646,939	C119Y	probably damaging	Het
Chat	T	C	14: 32,453,737	N122S	probably benign	Het
Col20a1	A	T	2: 180,984,403		probably benign	Het
Cyp2j9	A	T	4: 96,568,791	L481Q	probably damaging	Het
Dab1	A	C	4: 104,732,145	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,773,380	Q533P	probably damaging	Het
Eif4g3	A	T	4: 138,084,318	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,719,043	V438M	probably damaging	Het
Eva1c	G	A	16: 90,904,250	D258N	probably benign	Het
Fastkd2	A	G	1: 63,745,886	H477R	probably benign	Het
Fga	T	G	3: 83,031,514	S399A	probably benign	Het
Fmo4	T	A	1: 162,809,827	E32V	probably damaging	Het
Gm13083	G	A	4: 143,617,231	R367K	probably benign	Het
Gm1840	G	A	8: 5,640,473		noncoding transcript	Het
Gm7204	T	A	16: 48,218,688		noncoding transcript	Het
Hhipl1	A	G	12: 108,320,077	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,637,190	T63A	probably benign	Het
Igf2r	A	G	17: 12,703,465	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 115,024,047	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,791,462	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Ipo5	T	C	14: 120,941,642	V779A	probably benign	Het
Itpr1	C	T	6: 108,349,632	T105I	probably benign	Het
Kalrn	T	C	16: 34,198,487	M670V	probably damaging	Het
Kdm8	T	A	7: 125,455,259		probably null	Het
L3hypdh	T	C	12: 72,077,242	I281V	probably benign	Het
Lins1	T	G	7: 66,714,687		probably benign	Het
Map4k5	T	A	12: 69,824,598	I517L	possibly damaging	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mlkl	C	G	8: 111,319,716		probably null	Het
Mllt1	A	G	17: 56,902,630	M160T	probably benign	Het
Mmp15	G	A	8: 95,368,196	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,891,603	T23N	probably benign	Het
Nrg1	C	A	8: 31,918,200	E2*	probably null	Het
Olfr654	T	A	7: 104,588,489	H228Q	probably benign	Het
Pank4	A	G	4: 154,974,634	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,411,942	W24R	probably benign	Het
Pcm1	C	T	8: 41,287,738	T968I	probably damaging	Het
Pkib	G	T	10: 57,708,150	M19I	probably benign	Het
Ppy	A	G	11: 102,100,519		probably null	Het
Prdx3	A	C	19: 60,873,183	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,221,924	N106H	probably benign	Het
Rai14	G	A	15: 10,575,690	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,346,749	L1371Q	probably benign	Het
Rbm12	A	G	2: 156,097,128	L408P	probably damaging	Het
Rdx	T	C	9: 52,065,874	I141T	probably benign	Het
Reep1	T	A	6: 71,708,001	V11E	possibly damaging	Het
Sall4	A	G	2: 168,750,427	S936P	probably damaging	Het
Serac1	A	G	17: 6,051,790	M403T	possibly damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,553,496	I41L	probably benign	Het
Slc39a12	G	A	2: 14,400,323	S242N	probably benign	Het
Slc9a2	T	A	1: 40,761,916	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,701,645	P890T	probably damaging	Het
Sync	A	G	4: 129,293,439	Q88R	probably benign	Het
Tdrp	A	G	8: 13,974,527		probably benign	Het
Tg	G	T	15: 66,693,319	C1170F	probably damaging	Het
Tnks	A	T	8: 34,851,783	D781E	probably benign	Het
Tnp2	T	A	16: 10,788,343	T87S	possibly damaging	Het
Tpp2	T	C	1: 43,971,715	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,645,739	I431T	probably damaging	Het
Trav9d-4	A	T	14: 52,983,801	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,184,277	Y782F	probably damaging	Het
Vwf	T	C	6: 125,570,604	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,081,867	S83G	probably damaging	Het
Wdr91	T	A	6: 34,908,299	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,511,864	C148R	possibly damaging	Het

Other mutations in Nop53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Nop53	APN	7	15940157	missense	probably damaging	1.00
IGL01558:Nop53	APN	7	15945826	unclassified	probably benign
IGL02519:Nop53	APN	7	15939272	splice site	probably benign
levophed	UTSW	7	15945854	missense	possibly damaging	0.91
R0315:Nop53	UTSW	7	15945310	missense	probably damaging	1.00
R1614:Nop53	UTSW	7	15945965	missense	probably benign	0.04
R2004:Nop53	UTSW	7	15938228	missense	probably damaging	1.00
R4169:Nop53	UTSW	7	15942319	missense	probably benign	0.01
R4788:Nop53	UTSW	7	15942315	missense	possibly damaging	0.82
R4830:Nop53	UTSW	7	15942204	missense	probably damaging	0.97
R5734:Nop53	UTSW	7	15945962	splice site	probably null
R6136:Nop53	UTSW	7	15938389	nonsense	probably null
R6688:Nop53	UTSW	7	15945854	missense	possibly damaging	0.91
R6946:Nop53	UTSW	7	15938358	missense	probably damaging	0.99
R7384:Nop53	UTSW	7	15939495	missense	probably damaging	1.00
Z1177:Nop53	UTSW	7	15941745	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GGCTGAATCCTCTAAGCCAC -3'
(R):5'- GGGTTCTTAATCTAGGATCTTCCC -3'

Sequencing Primer
(F):5'- GAGACCCAGCTATACTCTAGTCTG -3'
(R):5'- ATCTTCCCTTGTAGGTGAACAG -3'

Posted On

2015-11-11