Mutagenetix > Incidental Mutation

Incidental Mutation 'R8709:Nup54'

673246

Institutional Source

Beutler Lab

Gene Symbol

Nup54

Ensembl Gene

ENSMUSG00000034826

Gene Name

nucleoporin 54

Synonyms

3110079L04Rik, 54kDa

MMRRC Submission

068563-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R8709 (G1)

Quality Score

176.009

Status

Validated

Chromosome

Chromosomal Location

92563399-92583078 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 92570267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046540 (fasta)

Gene Model

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

AlphaFold

Q8BTS4

Predicted Effect

probably benign
Transcript: ENSMUST00000038514

SMART Domains

Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (55/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,316 (GRCm39)	S79P	unknown	Het
Aadacl4fm2	C	G	4: 144,281,863 (GRCm39)	A310P	probably damaging	Het
Adamts20	T	A	15: 94,238,947 (GRCm39)	D757V	probably damaging	Het
Adamts9	C	T	6: 92,784,144 (GRCm39)	G1570D	probably damaging	Het
Adamtsl3	A	G	7: 82,077,642 (GRCm39)	Y109C	possibly damaging	Het
Agl	G	A	3: 116,566,121 (GRCm39)	R335C		Het
Ankfy1	C	A	11: 72,646,532 (GRCm39)	T805K	possibly damaging	Het
Cast	A	T	13: 74,892,780 (GRCm39)	V96E	probably damaging	Het
Cdh17	G	T	4: 11,795,685 (GRCm39)	E422*	probably null	Het
Cox4i1	T	A	8: 121,396,110 (GRCm39)	L21H	possibly damaging	Het
Cwc22	T	C	2: 77,726,694 (GRCm39)	E795G	probably benign	Het
Cwf19l2	C	A	9: 3,430,723 (GRCm39)	Q352K	probably benign	Het
Cyp2d9	T	C	15: 82,339,276 (GRCm39)	V226A	probably benign	Het
Dnah12	A	G	14: 26,414,757 (GRCm39)	I53V	probably benign	Het
Dnah7a	T	C	1: 53,674,476 (GRCm39)	I434V	probably benign	Het
Dock8	C	T	19: 25,055,448 (GRCm39)	Q137*	probably null	Het
Eif4b	T	G	15: 102,002,116 (GRCm39)	V515G	unknown	Het
Far2	T	A	6: 148,067,133 (GRCm39)	N339K	probably benign	Het
Gpr22	T	C	12: 31,759,829 (GRCm39)	T98A	probably damaging	Het
Hamp2	A	G	7: 30,621,974 (GRCm39)	C72R	probably damaging	Het
Hmgn1	G	A	16: 95,928,540 (GRCm39)	P16S	possibly damaging	Het
Hspd1	A	G	1: 55,120,922 (GRCm39)	S256P	probably benign	Het
Iqcn	T	C	8: 71,162,372 (GRCm39)	C522R	possibly damaging	Het
Iqgap2	T	C	13: 95,796,713 (GRCm39)	H1147R	probably damaging	Het
Itgb1	T	A	8: 129,439,887 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,140,681 (GRCm39)	W654R	probably damaging	Het
Krtap22-2	T	A	16: 88,807,514 (GRCm39)	Y28F	unknown	Het
Lcp2	T	A	11: 34,004,354 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,370,663 (GRCm39)	L3225R	possibly damaging	Het
Myom3	A	G	4: 135,523,607 (GRCm39)	E908G	possibly damaging	Het
Or1p1	T	A	11: 74,180,054 (GRCm39)	I194N	possibly damaging	Het
Or4a74	C	T	2: 89,440,366 (GRCm39)	V27I	probably benign	Het
Or51af1	T	C	7: 103,141,519 (GRCm39)	T189A	probably benign	Het
Or5ae1	T	A	7: 84,565,671 (GRCm39)	I228N	probably damaging	Het
Pak4	A	C	7: 28,261,969 (GRCm39)	D453E	probably benign	Het
Pkd1l1	T	C	11: 8,805,567 (GRCm39)	T2120A		Het
Pkhd1l1	T	A	15: 44,381,570 (GRCm39)	S1099T	probably benign	Het
Pld2	C	T	11: 70,444,275 (GRCm39)	R524W	probably damaging	Het
Polr1a	T	A	6: 71,951,832 (GRCm39)	D1466E	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rp1l1	A	C	14: 64,269,295 (GRCm39)	D1627A	probably damaging	Het
Sephs1	T	C	2: 4,889,402 (GRCm39)	V60A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Sp4	T	C	12: 118,263,189 (GRCm39)	T286A	possibly damaging	Het
Spag5	T	A	11: 78,192,738 (GRCm39)	S23R	probably benign	Het
Spag9	T	A	11: 93,958,916 (GRCm39)	N313K	probably benign	Het
Stag1	T	A	9: 100,772,975 (GRCm39)		probably benign	Het
Stkld1	T	A	2: 26,835,817 (GRCm39)	H217Q	probably benign	Het
Stxbp2	T	A	8: 3,683,914 (GRCm39)	F104I	possibly damaging	Het
Tcf12	A	G	9: 71,765,787 (GRCm39)	V575A	possibly damaging	Het
Tcf12	A	T	9: 71,830,069 (GRCm39)	S131T	probably benign	Het
Tg	T	A	15: 66,553,786 (GRCm39)	S400R	probably benign	Het
Tomm40	T	C	7: 19,444,703 (GRCm39)	T200A	possibly damaging	Het
Trio	T	C	15: 27,919,323 (GRCm39)	E71G	unknown	Het
Zfp292	A	T	4: 34,805,982 (GRCm39)	V2359E	probably 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
IGL01924:Nup54	APN	5	92,572,294 (GRCm39)	missense	probably benign	0.02
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
R9711:Nup54	UTSW	5	92,582,218 (GRCm39)	missense	unknown
Z1177:Nup54	UTSW	5	92,582,138 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGTGACCTGGAATGAATCTAAGC -3'
(R):5'- GGTTTAGGAATTCATGGCAAACCTG -3'

Sequencing Primer
(F):5'- AAGAGCACTGGCAGTTCTTC -3'
(R):5'- CAAACCTGCATGAAGTCTCTTATG -3'

Posted On

2021-06-24