Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Nup54'

607500

Institutional Source

Beutler Lab

Gene Symbol

Nup54

Ensembl Gene

ENSMUSG00000034826

Gene Name

nucleoporin 54

Synonyms

54kDa, 3110079L04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92415540-92435219 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92431093 bp (GRCm38)

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: 103,649,494	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,357,249	D1175G	probably null	Het
Accs	C	A	2: 93,835,732	*503L	probably null	Het
Adgra2	A	G	8: 27,114,457	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,548,453	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,816,978	D9A	unknown	Het
Atad2	G	A	15: 58,125,780	A228V	probably benign	Het
Atp10a	T	C	7: 58,788,359	S430P	probably damaging	Het
Atp1a3	T	C	7: 25,001,148	D6G	unknown	Het
Brca1	A	T	11: 101,526,422	N295K	possibly damaging	Het
Caly	C	A	7: 140,081,388		probably benign	Het
Ces1h	A	G	8: 93,357,425	Y386H	unknown	Het
Col14a1	A	G	15: 55,444,616	D1044G	unknown	Het
Csf2rb	A	G	15: 78,349,157	D888G	probably damaging	Het
Cux1	T	C	5: 136,252,604	E568G	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Dhrs7b	T	A	11: 60,855,742	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dnah14	C	T	1: 181,616,759	P545S	probably damaging	Het
Dnajc24	A	T	2: 106,002,035	M1K	probably null	Het
Dusp12	C	T	1: 170,874,526	W301*	probably null	Het
Dyrk1a	G	T	16: 94,691,716	G603*	probably null	Het
Eif4g1	T	A	16: 20,679,702	V403E	probably benign	Het
Epn3	T	C	11: 94,496,274	E90G	probably damaging	Het
Etl4	A	G	2: 20,805,910	S1303G	probably benign	Het
Evpl	A	T	11: 116,228,069	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,664,557	L22*	probably null	Het
Fcamr	T	A	1: 130,814,638	N587K	probably benign	Het
Fgd6	A	G	10: 94,103,331	N946S	probably benign	Het
Fndc3b	A	T	3: 27,468,999	I477N	possibly damaging	Het
Grifin	C	T	5: 140,564,525	A54T	probably benign	Het
Gtf2b	A	G	3: 142,781,344	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,628,444	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,350,399	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,939,922	D617E	probably damaging	Het
Kifc3	T	A	8: 95,107,537		probably null	Het
Kirrel3	C	T	9: 35,020,123	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,466,838	V132I	probably benign	Het
Kmt2a	A	G	9: 44,818,734	S3429P	unknown	Het
Lama1	T	G	17: 67,809,221	L2361R		Het
Lrp1b	T	C	2: 40,697,558	D3895G		Het
Mcoln3	A	C	3: 146,124,791	E92A	possibly damaging	Het
Myo3b	T	C	2: 70,108,688	M135T	probably damaging	Het
Mysm1	A	G	4: 94,946,967	*820Q	probably null	Het
Ncoa7	A	G	10: 30,691,060	S541P	probably benign	Het
Olfr118	C	A	17: 37,672,517	Q165K	possibly damaging	Het
Olfr1290	T	A	2: 111,490,024	I45F	probably damaging	Het
Olfr1496	T	C	19: 13,781,446	V276A	possibly damaging	Het
Olfr45	T	G	7: 140,691,571	I222S	probably damaging	Het
Olfr586	T	A	7: 103,122,692	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414	C18R	probably benign	Het
Pde4d	A	G	13: 109,935,324	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Pidd1	C	A	7: 141,440,142	W598L	probably damaging	Het
Pira2	A	T	7: 3,844,544	C49S	probably damaging	Het
Pramef6	T	C	4: 143,897,718	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,693,738	D135E	probably benign	Het
Rab15	T	A	12: 76,803,129	Y88F	probably damaging	Het
Rem2	C	A	14: 54,477,799	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,144,064	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,147,819	Q119*	probably null	Het
Suclg2	G	T	6: 95,594,722	Q120K	probably benign	Het
Tacc2	T	A	7: 130,625,431	M1282K	probably benign	Het
Tbc1d5	T	A	17: 50,756,692	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,472,154	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,159,698	F1184Y	probably benign	Het
Trim28	T	A	7: 13,028,412	V321E	possibly damaging	Het
Trim5	C	A	7: 104,266,468		probably null	Het
Ugt2b37	A	T	5: 87,242,440	Y382*	probably null	Het
Usp40	C	T	1: 87,982,130	G534D	probably damaging	Het
Usp53	A	T	3: 122,934,463	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,087,963	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,715,424	I296F	probably benign	Het
Vps13a	T	C	19: 16,655,304	S2563G	probably damaging	Het
Wdr59	A	G	8: 111,494,280	F207L		Het
Zan	A	G	5: 137,407,033	S3777P	unknown	Het
Zfp277	T	C	12: 40,315,881	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,909,919	R10W	probably damaging	Het
Zfp384	A	T	6: 125,036,325	H452L	probably damaging	Het
Zfyve28	A	T	5: 34,217,143	L509Q	probably damaging	Het

Other mutations in Nup54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Nup54	APN	5	92417485	missense	probably benign	0.00
IGL01526:Nup54	APN	5	92417475	missense	probably benign	0.12
IGL01924:Nup54	APN	5	92424435	missense	probably benign	0.02
IGL02248:Nup54	APN	5	92428329	splice site	probably null
IGL02253:Nup54	APN	5	92417451	critical splice donor site	probably null
IGL02508:Nup54	APN	5	92417539	nonsense	probably null
IGL02721:Nup54	APN	5	92417857	missense	possibly damaging	0.96
IGL03150:Nup54	APN	5	92428164	missense	probably damaging	1.00
R0189:Nup54	UTSW	5	92422564	missense	probably damaging	1.00
R1401:Nup54	UTSW	5	92428221	missense	probably damaging	1.00
R1862:Nup54	UTSW	5	92419567	missense	possibly damaging	0.75
R3938:Nup54	UTSW	5	92417529	missense	probably damaging	1.00
R4171:Nup54	UTSW	5	92417484	missense	possibly damaging	0.64
R4574:Nup54	UTSW	5	92425782	missense	probably benign	0.17
R5372:Nup54	UTSW	5	92417857	missense	probably damaging	1.00
R6003:Nup54	UTSW	5	92422994	missense	probably damaging	1.00
R6191:Nup54	UTSW	5	92424294	missense	probably damaging	0.99
R6197:Nup54	UTSW	5	92430804	utr 3 prime	probably benign
R8005:Nup54	UTSW	5	92428147	missense	probably benign	0.00
R8016:Nup54	UTSW	5	92434317	missense	unknown
R8439:Nup54	UTSW	5	92425746	missense	probably benign	0.22
R8709:Nup54	UTSW	5	92422408	intron	probably benign
R9711:Nup54	UTSW	5	92434359	missense	unknown
Z1177:Nup54	UTSW	5	92434279	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