Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Nup54'

607500

Institutional Source

Beutler Lab

Gene Symbol

Nup54

Ensembl Gene

ENSMUSG00000034826

Gene Name

nucleoporin 54

Synonyms

3110079L04Rik, 54kDa

MMRRC Submission

045914-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92563399-92583078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92578952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 33 (T33A)

Ref Sequence

ENSEMBL: ENSMUSP00000046540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038514] [ENSMUST00000135112] [ENSMUST00000146470]

AlphaFold

Q8BTS4

Predicted Effect

unknown
Transcript: ENSMUST00000038514
AA Change: T33A

SMART Domains

Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826
AA Change: T33A

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

unknown
Transcript: ENSMUST00000130156
AA Change: T99A

SMART Domains

Protein: ENSMUSP00000120937
Gene: ENSMUSG00000034826
AA Change: T99A

Domain	Start	End	E-Value	Type
low complexity region	82	110	N/A	INTRINSIC
low complexity region	112	123	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000135112
AA Change: T87A

SMART Domains

Protein: ENSMUSP00000117237
Gene: ENSMUSG00000034826
AA Change: T87A

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
internal_repeat_1	34	53	3.34e-6	PROSPERO
internal_repeat_1	49	68	3.34e-6	PROSPERO
low complexity region	69	97	N/A	INTRINSIC
low complexity region	99	110	N/A	INTRINSIC

Predicted Effect

silent
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,797,360 (GRCm39)	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,248,075 (GRCm39)	D1175G	probably null	Het
Accs	C	A	2: 93,666,077 (GRCm39)	*503L	probably null	Het
Adgra2	A	G	8: 27,604,485 (GRCm39)	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,681,525 (GRCm39)	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,706,990 (GRCm39)	D9A	unknown	Het
Atad2	G	A	15: 57,989,176 (GRCm39)	A228V	probably benign	Het
Atp10a	T	C	7: 58,438,107 (GRCm39)	S430P	probably damaging	Het
Atp1a3	T	C	7: 24,700,573 (GRCm39)	D6G	unknown	Het
Brca1	A	T	11: 101,417,248 (GRCm39)	N295K	possibly damaging	Het
Caly	C	A	7: 139,661,301 (GRCm39)		probably benign	Het
Ces1h	A	G	8: 94,084,053 (GRCm39)	Y386H	unknown	Het
Col14a1	A	G	15: 55,308,012 (GRCm39)	D1044G	unknown	Het
Csf2rb	A	G	15: 78,233,357 (GRCm39)	D888G	probably damaging	Het
Cux1	T	C	5: 136,281,458 (GRCm39)	E568G	possibly damaging	Het
Dhrs7b	T	A	11: 60,746,568 (GRCm39)	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnah14	C	T	1: 181,444,324 (GRCm39)	P545S	probably damaging	Het
Dnajc24	A	T	2: 105,832,380 (GRCm39)	M1K	probably null	Het
Dusp12	C	T	1: 170,702,095 (GRCm39)	W301*	probably null	Het
Dyrk1a	G	T	16: 94,492,575 (GRCm39)	G603*	probably null	Het
Eif4g1	T	A	16: 20,498,452 (GRCm39)	V403E	probably benign	Het
Epn3	T	C	11: 94,387,100 (GRCm39)	E90G	probably damaging	Het
Etl4	A	G	2: 20,810,721 (GRCm39)	S1303G	probably benign	Het
Evpl	A	T	11: 116,118,895 (GRCm39)	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,493,625 (GRCm39)	L22*	probably null	Het
Fcamr	T	A	1: 130,742,375 (GRCm39)	N587K	probably benign	Het
Fgd6	A	G	10: 93,939,193 (GRCm39)	N946S	probably benign	Het
Fndc3b	A	T	3: 27,523,148 (GRCm39)	I477N	possibly damaging	Het
Grifin	C	T	5: 140,550,280 (GRCm39)	A54T	probably benign	Het
Gtf2b	A	G	3: 142,487,105 (GRCm39)	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559 (GRCm39)	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,458,788 (GRCm39)	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,420,623 (GRCm39)	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,917,322 (GRCm39)	D617E	probably damaging	Het
Kifc3	T	A	8: 95,834,165 (GRCm39)		probably null	Het
Kirrel3	C	T	9: 34,931,419 (GRCm39)	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,443,820 (GRCm39)	V132I	probably benign	Het
Kmt2a	A	G	9: 44,730,031 (GRCm39)	S3429P	unknown	Het
Lama1	T	G	17: 68,116,216 (GRCm39)	L2361R		Het
Lrp1b	T	C	2: 40,587,570 (GRCm39)	D3895G		Het
Mcoln3	A	C	3: 145,830,546 (GRCm39)	E92A	possibly damaging	Het
Myo3b	T	C	2: 69,939,032 (GRCm39)	M135T	probably damaging	Het
Mysm1	A	G	4: 94,835,204 (GRCm39)	*820Q	probably null	Het
Ncoa7	A	G	10: 30,567,056 (GRCm39)	S541P	probably benign	Het
Or10al2	C	A	17: 37,983,408 (GRCm39)	Q165K	possibly damaging	Het
Or13a17	T	G	7: 140,271,484 (GRCm39)	I222S	probably damaging	Het
Or1s2	T	C	19: 13,758,810 (GRCm39)	V276A	possibly damaging	Het
Or4k42	T	A	2: 111,320,369 (GRCm39)	I45F	probably damaging	Het
Or51a5	T	A	7: 102,771,899 (GRCm39)	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414 (GRCm39)	C18R	probably benign	Het
Pde4d	A	G	13: 110,071,858 (GRCm39)	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pidd1	C	A	7: 141,020,055 (GRCm39)	W598L	probably damaging	Het
Pira2	A	T	7: 3,847,543 (GRCm39)	C49S	probably damaging	Het
Pramel11	T	C	4: 143,624,288 (GRCm39)	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,550,935 (GRCm39)	D135E	probably benign	Het
Rab15	T	A	12: 76,849,903 (GRCm39)	Y88F	probably damaging	Het
Rem2	C	A	14: 54,715,256 (GRCm39)	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,301,406 (GRCm39)	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,295,666 (GRCm39)	Q119*	probably null	Het
Suclg2	G	T	6: 95,571,703 (GRCm39)	Q120K	probably benign	Het
Tacc2	T	A	7: 130,227,161 (GRCm39)	M1282K	probably benign	Het
Tbc1d5	T	A	17: 51,063,720 (GRCm39)	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,709,590 (GRCm39)	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,087,435 (GRCm39)	F1184Y	probably benign	Het
Trim28	T	A	7: 12,762,339 (GRCm39)	V321E	possibly damaging	Het
Trim5	C	A	7: 103,915,675 (GRCm39)		probably null	Het
Ugt2b37	A	T	5: 87,390,299 (GRCm39)	Y382*	probably null	Het
Usp40	C	T	1: 87,909,852 (GRCm39)	G534D	probably damaging	Het
Usp53	A	T	3: 122,728,112 (GRCm39)	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,235,829 (GRCm39)	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,449,351 (GRCm39)	I296F	probably benign	Het
Vps13a	T	C	19: 16,632,668 (GRCm39)	S2563G	probably damaging	Het
Wdr59	A	G	8: 112,220,912 (GRCm39)	F207L		Het
Zan	A	G	5: 137,405,295 (GRCm39)	S3777P	unknown	Het
Zfp277	T	C	12: 40,365,880 (GRCm39)	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,745,749 (GRCm39)	R10W	probably damaging	Het
Zfp384	A	T	6: 125,013,288 (GRCm39)	H452L	probably damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve28	A	T	5: 34,374,487 (GRCm39)	L509Q	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
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

Predicted Primers

PCR Primer
(F):5'- CTTTGTTCTGAGTGCCACCG -3'
(R):5'- ACGTTACCCATTTAGTTAACGGG -3'

Sequencing Primer
(F):5'- TGTTCTGAGTGCCACCGAGAAG -3'
(R):5'- GCAATGCATTGACCTTCTGATTAG -3'

Posted On

2019-12-20