Mutagenetix > Incidental Mutation

Incidental Mutation 'R1614:Nop53'

176994

Institutional Source

Beutler Lab

Gene Symbol

Nop53

Ensembl Gene

ENSMUSG00000041560

Gene Name

NOP53 ribosome biogenesis factor

Synonyms

9430097C02Rik, Gltscr2

MMRRC Submission

039651-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1614 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

15671760-15680033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15679890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

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: V30A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043981
Gene: ENSMUSG00000041560
AA Change: V30A

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: 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

0.0610

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.4%

Validation Efficiency

100% (53/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl9	A	G	5: 77,158,412 (GRCm39)	T165A	probably benign	Het
Atpaf1	A	T	4: 115,653,954 (GRCm39)	K201N	possibly damaging	Het
Cacna1b	G	T	2: 24,580,819 (GRCm39)	Q676K	possibly damaging	Het
Ccdc88c	A	T	12: 100,879,243 (GRCm39)	H1959Q	probably benign	Het
Cep162	T	C	9: 87,094,985 (GRCm39)	D808G	probably damaging	Het
Chct1	T	G	11: 85,063,690 (GRCm39)	S28A	possibly damaging	Het
Chtf18	A	G	17: 25,946,064 (GRCm39)	L42P	probably benign	Het
Cox7c	A	G	13: 86,193,904 (GRCm39)	F40L	probably benign	Het
Dock7	C	T	4: 98,949,517 (GRCm39)	V442I	probably benign	Het
Dst	T	C	1: 34,314,344 (GRCm39)	F4198S	probably damaging	Het
Fam13a	T	A	6: 58,917,169 (GRCm39)	D569V	probably damaging	Het
Gm6741	T	A	17: 91,544,424 (GRCm39)	H62Q	probably benign	Het
Gnptab	A	G	10: 88,250,451 (GRCm39)	T172A	probably benign	Het
Greb1	A	G	12: 16,751,172 (GRCm39)	S1013P	probably damaging	Het
Insl5	A	T	4: 102,883,846 (GRCm39)	L25*	probably null	Het
Ipo13	A	G	4: 117,761,815 (GRCm39)	S462P	probably benign	Het
Itgb1	G	A	8: 129,446,546 (GRCm39)	C401Y	probably damaging	Het
Kcnh7	G	T	2: 62,680,948 (GRCm39)	A213E	probably benign	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Mesp2	T	C	7: 79,461,367 (GRCm39)	S231P	probably benign	Het
Nabp1	T	C	1: 51,510,511 (GRCm39)	N164D	possibly damaging	Het
Or1j17	T	G	2: 36,578,321 (GRCm39)	Y102*	probably null	Het
Or4a73	T	A	2: 89,421,040 (GRCm39)	I140L	possibly damaging	Het
Or4f54	T	A	2: 111,123,411 (GRCm39)	V266E	probably damaging	Het
Or4f62	T	A	2: 111,986,862 (GRCm39)	C189S	probably damaging	Het
Pcsk5	G	A	19: 17,492,620 (GRCm39)	R918C	probably damaging	Het
Pecam1	T	C	11: 106,571,905 (GRCm39)	D554G	probably benign	Het
Polr2a	T	C	11: 69,634,199 (GRCm39)	I744V	possibly damaging	Het
Pop1	C	A	15: 34,530,356 (GRCm39)	A918D	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prmt3	A	T	7: 49,476,467 (GRCm39)	I359F	possibly damaging	Het
Proz	G	A	8: 13,116,904 (GRCm39)	C152Y	probably damaging	Het
Ptgfr	A	C	3: 151,507,416 (GRCm39)	Y316D	probably benign	Het
Ralgapa2	G	T	2: 146,230,532 (GRCm39)	S1011Y	probably damaging	Het
Rnf43	C	T	11: 87,622,485 (GRCm39)	R529*	probably null	Het
Slc17a6	G	A	7: 51,296,025 (GRCm39)		probably benign	Het
Slc25a19	A	T	11: 115,507,449 (GRCm39)	C224*	probably null	Het
Smarcd3	A	G	5: 24,799,874 (GRCm39)	S299P	possibly damaging	Het
Stard9	T	C	2: 120,528,156 (GRCm39)	F1471S	possibly damaging	Het
Strada	A	C	11: 106,059,145 (GRCm39)	V211G	probably damaging	Het
Tom1l1	T	C	11: 90,574,080 (GRCm39)	E68G	probably damaging	Het
Vmn2r27	T	G	6: 124,200,893 (GRCm39)	I355L	probably benign	Het
Vmn2r68	A	T	7: 84,870,946 (GRCm39)	M779K	possibly damaging	Het
Zbtb18	T	C	1: 177,274,736 (GRCm39)	L23P	probably damaging	Het
Zfp112	G	T	7: 23,826,024 (GRCm39)	C664F	probably damaging	Het
Zfp955a	A	T	17: 33,461,306 (GRCm39)	N275K	possibly damaging	Het

Other mutations in Nop53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Nop53	APN	7	15,674,082 (GRCm39)	missense	probably damaging	1.00
IGL01558:Nop53	APN	7	15,679,751 (GRCm39)	unclassified	probably benign
IGL02519:Nop53	APN	7	15,673,197 (GRCm39)	splice site	probably benign
levophed	UTSW	7	15,679,779 (GRCm39)	missense	possibly damaging	0.91
R0315:Nop53	UTSW	7	15,679,235 (GRCm39)	missense	probably damaging	1.00
R2004:Nop53	UTSW	7	15,672,153 (GRCm39)	missense	probably damaging	1.00
R4169:Nop53	UTSW	7	15,676,244 (GRCm39)	missense	probably benign	0.01
R4760:Nop53	UTSW	7	15,676,812 (GRCm39)	missense	probably benign	0.07
R4788:Nop53	UTSW	7	15,676,240 (GRCm39)	missense	possibly damaging	0.82
R4830:Nop53	UTSW	7	15,676,129 (GRCm39)	missense	probably damaging	0.97
R5734:Nop53	UTSW	7	15,679,887 (GRCm39)	splice site	probably null
R6136:Nop53	UTSW	7	15,672,314 (GRCm39)	nonsense	probably null
R6688:Nop53	UTSW	7	15,679,779 (GRCm39)	missense	possibly damaging	0.91
R6946:Nop53	UTSW	7	15,672,283 (GRCm39)	missense	probably damaging	0.99
R7384:Nop53	UTSW	7	15,673,420 (GRCm39)	missense	probably damaging	1.00
Z1177:Nop53	UTSW	7	15,675,670 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- ATGGGCTACACCTGGAGCTTTCAC -3'
(R):5'- ATGGTCGCAAACAGGAAGTGCGTC -3'

Sequencing Primer
(F):5'- ttgtctacataccgagtgcc -3'
(R):5'- CAGGAAGTGCGTCATATTACGTC -3'

Posted On

2014-04-24