Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Nup54'

180194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup54

Ensembl Gene

ENSMUSG00000034826

Gene Name

nucleoporin 54

Synonyms

3110079L04Rik, 54kDa

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

92563399-92583078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92572294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 252 (P252L)

Ref Sequence

ENSEMBL: ENSMUSP00000046540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038514] [ENSMUST00000146470]

AlphaFold

Q8BTS4

Predicted Effect

probably benign
Transcript: ENSMUST00000038514
AA Change: P252L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826
AA Change: P252L

Domain	Start	End	E-Value	Type
low complexity region	5	109	N/A	INTRINSIC
Pfam:Nup54	303	441	4.8e-49	PFAM
PDB:3T98\|C	445	494	2e-26	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142525

Predicted Effect

probably benign
Transcript: ENSMUST00000146470

SMART Domains

Protein: ENSMUSP00000121171
Gene: ENSMUSG00000034826

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	46	66	N/A	INTRINSIC
low complexity region	75	97	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201228

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,362,047 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Aox1	C	T	1: 58,326,902 (GRCm39)	T167I	possibly damaging	Het
Apba3	G	T	10: 81,108,907 (GRCm39)	A557S	probably benign	Het
Atad2b	T	C	12: 5,084,093 (GRCm39)	L1382P	probably damaging	Het
Atrn	C	T	2: 130,777,485 (GRCm39)	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,002,630 (GRCm39)	S88G	probably benign	Het
Baz2b	T	C	2: 59,765,615 (GRCm39)	K887E	probably damaging	Het
Castor2	T	C	5: 134,164,441 (GRCm39)	F134S	probably benign	Het
Ccdc162	A	C	10: 41,445,883 (GRCm39)	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,283,887 (GRCm39)		probably benign	Het
Cfhr4	G	A	1: 139,666,944 (GRCm39)	L444F	probably damaging	Het
Chit1	A	G	1: 134,077,148 (GRCm39)	D317G	probably benign	Het
Chrnb1	A	T	11: 69,685,845 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,596 (GRCm39)	T620K	probably benign	Het
Creld1	T	C	6: 113,460,921 (GRCm39)	F20L	probably benign	Het
Csmd2	A	T	4: 128,453,740 (GRCm39)	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,309,439 (GRCm39)	D259G	probably benign	Het
Dbnl	A	G	11: 5,747,142 (GRCm39)	Y224C	probably damaging	Het
Det1	A	T	7: 78,493,571 (GRCm39)	C144*	probably null	Het
Fbxo47	G	T	11: 97,746,986 (GRCm39)	A360D	probably damaging	Het
Frrs1	G	A	3: 116,678,888 (GRCm39)	G237R	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Gria2	T	C	3: 80,617,638 (GRCm39)	T372A	probably benign	Het
Hmcn2	A	T	2: 31,288,929 (GRCm39)	Q2246L	probably benign	Het
Ide	T	C	19: 37,249,563 (GRCm39)	M930V	unknown	Het
Kdm5a	T	C	6: 120,371,216 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,132,426 (GRCm39)	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,221,169 (GRCm39)	F209L	possibly damaging	Het
Med13	C	A	11: 86,199,522 (GRCm39)		probably benign	Het
Myom2	A	G	8: 15,119,685 (GRCm39)	E147G	probably benign	Het
Myrip	T	A	9: 120,217,330 (GRCm39)	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,460,482 (GRCm39)	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,020,255 (GRCm39)	C247*	probably null	Het
Or51ag1	A	G	7: 103,156,003 (GRCm39)	I50T	possibly damaging	Het
Otoa	C	A	7: 120,705,191 (GRCm39)	N244K	probably damaging	Het
Pbrm1	G	A	14: 30,804,561 (GRCm39)	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,875,411 (GRCm39)	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,106,134 (GRCm39)	L233H	probably damaging	Het
Sec24c	T	A	14: 20,739,757 (GRCm39)	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,240,686 (GRCm39)		probably null	Het
Slitrk1	G	A	14: 109,148,671 (GRCm39)	A680V	probably benign	Het
Smpd1	C	T	7: 105,204,655 (GRCm39)	S178L	probably benign	Het
Spindoc	A	G	19: 7,360,042 (GRCm39)	L42P	probably damaging	Het
Tenm4	A	G	7: 96,544,419 (GRCm39)	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,746,501 (GRCm39)	A18E	probably damaging	Het
Tmem213	A	T	6: 38,086,373 (GRCm39)	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,667,800 (GRCm39)	I102L	probably benign	Het
Trip11	T	G	12: 101,853,143 (GRCm39)	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385 (GRCm39)	R1056*	probably null	Het
Wdr27	T	G	17: 15,137,488 (GRCm39)	K433N	probably damaging	Het
Wls	C	A	3: 159,607,080 (GRCm39)	S189*	probably null	Het
Yeats2	A	G	16: 20,024,917 (GRCm39)	N706D	probably damaging	Het
Zbp1	A	G	2: 173,054,047 (GRCm39)	V158A	probably benign	Het
Zfp595	G	T	13: 67,465,847 (GRCm39)	H139N	possibly damaging	Het

Other mutations in Nup54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Nup54	APN	5	92,565,344 (GRCm39)	missense	probably benign	0.00
IGL01526:Nup54	APN	5	92,565,334 (GRCm39)	missense	probably benign	0.12
IGL02248:Nup54	APN	5	92,576,188 (GRCm39)	splice site	probably null
IGL02253:Nup54	APN	5	92,565,310 (GRCm39)	critical splice donor site	probably null
IGL02508:Nup54	APN	5	92,565,398 (GRCm39)	nonsense	probably null
IGL02721:Nup54	APN	5	92,565,716 (GRCm39)	missense	possibly damaging	0.96
IGL03150:Nup54	APN	5	92,576,023 (GRCm39)	missense	probably damaging	1.00
R0189:Nup54	UTSW	5	92,570,423 (GRCm39)	missense	probably damaging	1.00
R1401:Nup54	UTSW	5	92,576,080 (GRCm39)	missense	probably damaging	1.00
R1862:Nup54	UTSW	5	92,567,426 (GRCm39)	missense	possibly damaging	0.75
R3938:Nup54	UTSW	5	92,565,388 (GRCm39)	missense	probably damaging	1.00
R4171:Nup54	UTSW	5	92,565,343 (GRCm39)	missense	possibly damaging	0.64
R4574:Nup54	UTSW	5	92,573,641 (GRCm39)	missense	probably benign	0.17
R5372:Nup54	UTSW	5	92,565,716 (GRCm39)	missense	probably damaging	1.00
R6003:Nup54	UTSW	5	92,570,853 (GRCm39)	missense	probably damaging	1.00
R6191:Nup54	UTSW	5	92,572,153 (GRCm39)	missense	probably damaging	0.99
R6197:Nup54	UTSW	5	92,578,663 (GRCm39)	utr 3 prime	probably benign
R7861:Nup54	UTSW	5	92,578,952 (GRCm39)	missense	unknown
R8005:Nup54	UTSW	5	92,576,006 (GRCm39)	missense	probably benign	0.00
R8016:Nup54	UTSW	5	92,582,176 (GRCm39)	missense	unknown
R8439:Nup54	UTSW	5	92,573,605 (GRCm39)	missense	probably benign	0.22
R8709:Nup54	UTSW	5	92,570,267 (GRCm39)	intron	probably benign
R9711:Nup54	UTSW	5	92,582,218 (GRCm39)	missense	unknown
Z1177:Nup54	UTSW	5	92,582,138 (GRCm39)	missense	unknown

Posted On

2014-05-07