Mutagenetix > Incidental Mutation

Incidental Mutation 'R0741:Nol3'

70691

Institutional Source

Beutler Lab

Gene Symbol

Nol3

Ensembl Gene

ENSMUSG00000014776

Gene Name

nucleolar protein 3 (apoptosis repressor with CARD domain)

Synonyms

Nop30, ARC, B430311C09Rik

MMRRC Submission

038922-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R0741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106002777-106008571 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 106005756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 50 (A50G)

Ref Sequence

ENSEMBL: ENSMUSP00000014920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014920] [ENSMUST00000014981] [ENSMUST00000036127] [ENSMUST00000163734] [ENSMUST00000171788] [ENSMUST00000172525] [ENSMUST00000173102] [ENSMUST00000212219] [ENSMUST00000212922] [ENSMUST00000173859] [ENSMUST00000173640] [ENSMUST00000174837]

AlphaFold

Q9D1X0

Predicted Effect

probably damaging
Transcript: ENSMUST00000014920
AA Change: A50G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000014920
Gene: ENSMUSG00000014776
AA Change: A50G

Domain	Start	End	E-Value	Type
CARD	4	92	2.1e-27	SMART
low complexity region	149	161	N/A	INTRINSIC
low complexity region	173	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000014981

SMART Domains

Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837

Domain	Start	End	E-Value	Type
DUF1704	148	457	1.07e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036127

SMART Domains

Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	383	8e-88	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000163734

SMART Domains

Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	9	60	1.43e-1	SMART
Blast:HSF	99	323	2e-88	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000171788

SMART Domains

Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837

Domain	Start	End	E-Value	Type
DUF1704	148	457	1.07e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172525

SMART Domains

Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	243	3e-36	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173102

Predicted Effect

probably benign
Transcript: ENSMUST00000212219

Predicted Effect

probably benign
Transcript: ENSMUST00000212922

Predicted Effect

probably benign
Transcript: ENSMUST00000173859

SMART Domains

Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	353	1e-46	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173640

SMART Domains

Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	284	1e-50	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000174837

SMART Domains

Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	290	3e-50	BLAST

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous null mice exhibit accelerated cardiomyopathy in response to pressure overload and increased myocardial infarct size after I/R injury. Mice homozygous for another knock-out allele exhibit attenuated pulmonary hypertension and vasculature remodeling response to chronic hypoxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano7	T	A	1: 93,329,309 (GRCm39)	I701N	probably damaging	Het
Asb7	A	T	7: 66,309,882 (GRCm39)	N111K	probably benign	Het
Atp10a	T	A	7: 58,478,337 (GRCm39)	L1460Q	possibly damaging	Het
Auh	T	C	13: 53,083,638 (GRCm39)	T14A	possibly damaging	Het
Caskin2	A	G	11: 115,695,626 (GRCm39)	V245A	probably damaging	Het
Cryba4	G	A	5: 112,394,554 (GRCm39)	R192C	probably damaging	Het
Ctsq	T	A	13: 61,184,019 (GRCm39)	D301V	probably damaging	Het
Dpyd	A	G	3: 118,468,154 (GRCm39)	E56G	possibly damaging	Het
Dtd2	T	C	12: 52,046,455 (GRCm39)	K128R	probably benign	Het
Eps8l3	A	G	3: 107,790,141 (GRCm39)	T141A	probably benign	Het
Evc	A	T	5: 37,483,739 (GRCm39)	I187N	possibly damaging	Het
Fam120a	A	G	13: 49,045,416 (GRCm39)	S807P	possibly damaging	Het
Fbxw22	G	A	9: 109,211,287 (GRCm39)	S338L	probably benign	Het
Gcnt4	G	T	13: 97,082,940 (GRCm39)	E79*	probably null	Het
Get4	G	A	5: 139,249,384 (GRCm39)		probably benign	Het
Hipk1	A	G	3: 103,654,128 (GRCm39)	V954A	probably benign	Het
Ifi206	C	T	1: 173,301,315 (GRCm39)	V788M	probably benign	Het
Iqgap1	A	G	7: 80,370,735 (GRCm39)	S1545P	probably benign	Het
Kif21b	A	G	1: 136,087,482 (GRCm39)	T933A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Magee2	A	G	X: 103,899,472 (GRCm39)	L393P	probably damaging	Het
Mtrr	T	C	13: 68,727,658 (GRCm39)		probably null	Het
Nes	A	G	3: 87,886,274 (GRCm39)	E1467G	probably damaging	Het
Nr2f2	G	A	7: 70,007,745 (GRCm39)	R113C	probably damaging	Het
Obscn	CCACACACACACAC	CCACACACACAC	11: 58,954,279 (GRCm39)		probably null	Het
Or10a3m	T	A	7: 108,312,811 (GRCm39)	C84S	probably benign	Het
Pnkd	T	A	1: 74,391,018 (GRCm39)	S337R	possibly damaging	Het
Ptprh	A	G	7: 4,557,172 (GRCm39)		probably null	Het
Ralgapa1	A	C	12: 55,723,366 (GRCm39)	V1767G	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skap1	A	C	11: 96,383,759 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,722,902 (GRCm39)	S1250P	probably benign	Het
Txndc5	T	C	13: 38,712,236 (GRCm39)	H50R	possibly damaging	Het
Usp25	C	A	16: 76,868,596 (GRCm39)	D332E	possibly damaging	Het
Vgll1	A	T	X: 56,141,644 (GRCm39)		probably benign	Het

Other mutations in Nol3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02115:Nol3	APN	8	106,006,263 (GRCm39)	missense	probably benign	0.01
R1530:Nol3	UTSW	8	106,005,858 (GRCm39)	missense	probably benign	0.03
R4766:Nol3	UTSW	8	106,008,565 (GRCm39)	splice site	probably null
R4883:Nol3	UTSW	8	106,005,888 (GRCm39)	missense	possibly damaging	0.77
R6838:Nol3	UTSW	8	106,006,207 (GRCm39)	missense	probably damaging	0.96
R9657:Nol3	UTSW	8	106,005,641 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCGTAGAGTAACGCAAATTACGCC -3'
(R):5'- AATCCACGCCCTTCGATTCATCAAG -3'

Sequencing Primer
(F):5'- GCAAATTACGCCCCGCC -3'
(R):5'- TCGATTCATCAAGGCTCCAC -3'

Posted On

2013-09-30