Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02029:Nup43'

184315

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup43

Ensembl Gene

ENSMUSG00000040034

Gene Name

nucleoporin 43

Synonyms

p42, 43kDa, 2610529I12Rik, 2610016K01Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL02029

Quality Score

Status

Chromosome

Chromosomal Location

7667503-7678881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7667583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 8 (F8L)

Ref Sequence

ENSEMBL: ENSMUSP00000046732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040135] [ENSMUST00000159917] [ENSMUST00000159977] [ENSMUST00000161123] [ENSMUST00000162606] [ENSMUST00000162682] [ENSMUST00000163085]

AlphaFold

P59235

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040135
AA Change: F8L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034
AA Change: F8L

Domain	Start	End	E-Value	Type
Blast:WD40	1	48	1e-15	BLAST
WD40	64	101	3.57e0	SMART
WD40	124	157	2.45e2	SMART
WD40	160	199	9.55e0	SMART
WD40	206	246	2.15e-4	SMART
WD40	250	290	2.19e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159917

SMART Domains

Protein: ENSMUSP00000124932
Gene: ENSMUSG00000019795

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:PCMT	66	279	1.1e-88	PFAM
Pfam:Ubie_methyltran	126	258	3.4e-7	PFAM
Pfam:Methyltransf_31	134	284	1.1e-8	PFAM
Pfam:Methyltransf_18	136	241	3e-9	PFAM
Pfam:Methyltransf_11	141	239	1.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161060

Predicted Effect

probably benign
Transcript: ENSMUST00000161123

SMART Domains

Protein: ENSMUSP00000124100
Gene: ENSMUSG00000019795

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:PCMT	53	108	4.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162527

Predicted Effect

probably benign
Transcript: ENSMUST00000162606

SMART Domains

Protein: ENSMUSP00000123866
Gene: ENSMUSG00000019795

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:PCMT	66	279	2e-88	PFAM
Pfam:Ubie_methyltran	126	259	1e-6	PFAM
Pfam:Methyltransf_31	134	283	3.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162682

SMART Domains

Protein: ENSMUSP00000124246
Gene: ENSMUSG00000019795

Domain	Start	End	E-Value	Type
Pfam:PCMT	1	66	7.5e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163085

SMART Domains

Protein: ENSMUSP00000125144
Gene: ENSMUSG00000019795

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:PCMT	52	265	9.1e-89	PFAM
Pfam:Ubie_methyltran	112	244	3.1e-7	PFAM
Pfam:Methyltransf_31	120	270	9.8e-9	PFAM
Pfam:Methyltransf_18	122	227	2.7e-9	PFAM
Pfam:Methyltransf_11	127	225	1.4e-6	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	C	10: 127,080,283	V221A	unknown	Het
Akr1c13	T	A	13: 4,205,362	Y317*	probably null	Het
Bicd2	T	A	13: 49,369,499	I30N	probably damaging	Het
Cadm2	G	T	16: 66,747,296	N291K	probably damaging	Het
Ccdc61	C	T	7: 18,903,498	C68Y	probably damaging	Het
Ccnl2	A	G	4: 155,821,862	S351G	probably benign	Het
Cdcp1	A	G	9: 123,183,834		probably benign	Het
Clhc1	T	C	11: 29,560,798	S256P	probably benign	Het
Fam83h	T	C	15: 76,006,438	E37G	probably damaging	Het
Fancd2	C	T	6: 113,570,975	L938F	probably benign	Het
Fbn2	G	T	18: 58,209,603	A68E	probably benign	Het
Fcrl1	T	A	3: 87,376,487		probably benign	Het
Ganc	A	G	2: 120,459,857	T892A	probably benign	Het
Gramd1a	C	T	7: 31,132,824	R596H	possibly damaging	Het
Limk1	A	T	5: 134,657,954	Y518*	probably null	Het
Map1a	A	G	2: 121,303,298	T1294A	possibly damaging	Het
March3	G	A	18: 56,807,681	P126S	probably benign	Het
Ntn5	A	G	7: 45,686,591	I149V	probably benign	Het
Olfr1105	A	G	2: 87,033,901	F107L	probably benign	Het
Olfr1484	A	T	19: 13,586,104	M267L	probably benign	Het
P2rx6	C	T	16: 17,568,095	S236F	probably benign	Het
Peg10	G	T	6: 4,754,473		probably benign	Het
Runx2	T	A	17: 44,658,687	R238*	probably null	Het
Serpinb9d	A	T	13: 33,196,529	I133L	possibly damaging	Het
Snph	A	G	2: 151,593,607	V434A	probably damaging	Het
Trp53rkb	C	A	2: 166,795,394	P90Q	probably damaging	Het
Ttn	C	A	2: 76,749,804	E21836*	probably null	Het
Ube3c	T	A	5: 29,619,328	F507I	probably damaging	Het
Ugt1a6a	T	C	1: 88,138,681	S70P	probably benign	Het
Zcchc6	A	G	13: 59,784,888		probably benign	Het
Zfp354b	C	T	11: 50,923,837	C87Y	probably benign	Het
Zfp462	G	T	4: 55,079,395		probably benign	Het

Other mutations in Nup43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Nup43	APN	10	7669556	missense	probably benign
IGL02375:Nup43	APN	10	7673594	missense	probably damaging	1.00
R0413:Nup43	UTSW	10	7671027	missense	probably benign	0.05
R1061:Nup43	UTSW	10	7667671	missense	probably damaging	0.99
R1892:Nup43	UTSW	10	7673609	missense	probably damaging	0.99
R2960:Nup43	UTSW	10	7670949	missense	probably benign
R3551:Nup43	UTSW	10	7675014	missense	possibly damaging	0.93
R4772:Nup43	UTSW	10	7678669	nonsense	probably null
R6179:Nup43	UTSW	10	7678673	missense	probably benign	0.40
R6346:Nup43	UTSW	10	7675062	missense	probably damaging	1.00
R8073:Nup43	UTSW	10	7670949	missense	probably benign
R8220:Nup43	UTSW	10	7676333	missense	probably benign

Posted On

2014-05-07