Mutagenetix > Incidental Mutations

Incidental Mutation 'R8073:Nup43'

620355

Institutional Source

Beutler Lab

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 #

R8073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7667503-7678881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7670949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 111 (V111A)

Ref Sequence

ENSEMBL: ENSMUSP00000046732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040135] [ENSMUST00000159977] [ENSMUST00000162682]

AlphaFold

P59235

Predicted Effect

probably benign
Transcript: ENSMUST00000040135
AA Change: V111A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034
AA Change: V111A

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: ENSMUST00000159977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162527

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,443,226	V533I	probably benign	Het
Akap3	A	T	6: 126,865,773	T452S	probably damaging	Het
Angpt1	C	T	15: 42,438,303	M436I	probably benign	Het
B3galt4	T	C	17: 33,950,823	K147R	probably damaging	Het
Birc6	C	A	17: 74,603,085	T1491K	probably damaging	Het
Boll	T	C	1: 55,355,722		probably benign	Het
C6	T	C	15: 4,735,193	F124L	probably benign	Het
Camta1	T	C	4: 151,078,824	Y436C	probably damaging	Het
Celsr1	T	C	15: 85,939,155	N1684S	probably benign	Het
Cflar	T	C	1: 58,752,822	L428P		Het
Clk4	T	C	11: 51,277,889	I363T	probably benign	Het
Cnst	A	G	1: 179,606,437	T273A	probably benign	Het
Col5a1	C	T	2: 27,962,129	A546V	possibly damaging	Het
Col6a6	T	A	9: 105,781,947	N600Y	probably benign	Het
Cxadr	A	G	16: 78,333,413	N156S	probably benign	Het
Diaph1	C	T	18: 37,891,797	G537E	unknown	Het
Dmxl1	T	A	18: 49,878,433	V1219D	probably damaging	Het
Dnajb12	T	A	10: 59,890,179	Y95*	probably null	Het
Dnajc5g	A	G	5: 31,111,685	T137A	probably benign	Het
Dpy19l3	G	A	7: 35,729,748	T89M	probably damaging	Het
Dusp19	C	A	2: 80,617,484	T34N	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Enpp1	A	G	10: 24,679,244	V68A	possibly damaging	Het
Epha7	T	A	4: 28,821,022	D62E	probably damaging	Het
Frmd4b	A	T	6: 97,306,713	V445E	probably benign	Het
Gp9	A	C	6: 87,779,354	D117A	probably benign	Het
Haao	T	C	17: 83,835,220	E152G	possibly damaging	Het
Ighd	A	G	12: 113,416,169	S52P	probably benign	Het
Ikzf3	T	C	11: 98,467,429	K361E	probably benign	Het
Lgi2	T	A	5: 52,546,671	E206V	probably benign	Het
Mfsd11	T	A	11: 116,863,923	V220E	probably benign	Het
Moxd1	G	T	10: 24,252,950	G200C	probably damaging	Het
Mthfd1l	C	A	10: 3,973,417	Q55K	probably benign	Het
Nlrp9a	T	A	7: 26,560,835	L672M	probably damaging	Het
Npvf	A	C	6: 50,654,369	F9V	probably damaging	Het
Nup205	G	T	6: 35,202,169		probably null	Het
Obscn	C	T	11: 59,135,690	R229H	probably benign	Het
Olfml2a	C	A	2: 38,957,754	R442S	probably damaging	Het
Olfr12	T	A	1: 92,620,084	D59E	probably damaging	Het
Olfr1225	T	A	2: 89,170,940	I91F	probably damaging	Het
Olfr1445	T	A	19: 12,884,616	V245E	probably benign	Het
Olfr418	A	G	1: 173,270,985	D270G	probably benign	Het
Olfr698	C	A	7: 106,752,801	E196*	probably null	Het
Pcdhga7	T	C	18: 37,715,345	F135S	probably damaging	Het
Pde4a	A	T	9: 21,210,769	I654F	probably damaging	Het
Pip5kl1	G	A	2: 32,583,428	R359Q	possibly damaging	Het
Ppp2ca	T	C	11: 52,119,297	V244A	possibly damaging	Het
Qrich1	T	A	9: 108,534,428	L384H	possibly damaging	Het
Rab4a	T	C	8: 123,827,396	V62A	possibly damaging	Het
Ranbp10	A	G	8: 105,786,629	L217P	probably damaging	Het
Rhebl1	C	T	15: 98,878,524	A131T	probably benign	Het
Rnf150	A	T	8: 82,863,917		probably benign	Het
Slc32a1	G	A	2: 158,614,765	A447T	probably damaging	Het
Spag5	T	A	11: 78,301,977	M45K	probably benign	Het
Spata13	A	G	14: 60,691,256	N88D	probably damaging	Het
Spred2	C	A	11: 20,008,422	T128N	probably benign	Het
Tenm2	T	C	11: 36,139,644	E776G	possibly damaging	Het
Tet1	C	G	10: 62,813,353	E156Q	probably damaging	Het
Tmc1	T	C	19: 20,868,361	N166S	probably benign	Het
Trim43a	C	A	9: 88,582,437	Q134K	possibly damaging	Het
Tsks	A	T	7: 44,957,881	M543L	probably benign	Het
Ttc30a2	A	G	2: 75,976,653	V505A	probably damaging	Het
Ttn	T	C	2: 76,743,837	K25571E	probably damaging	Het
Vamp5	C	A	6: 72,380,453		probably benign	Het
Vmn2r79	A	T	7: 87,002,254	Q287L	probably benign	Het
Zfp326	T	A	5: 105,914,816	V517E	unknown	Het
Zfp467	A	T	6: 48,438,025	H564Q	probably damaging	Het
Zfp51	G	A	17: 21,464,032	C303Y	probably damaging	Het

Other mutations in Nup43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Nup43	APN	10	7669556	missense	probably benign
IGL02029:Nup43	APN	10	7667583	missense	possibly damaging	0.87
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
R8220:Nup43	UTSW	10	7676333	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGGGAGACTTGTTCTTTCTTCTAC -3'
(R):5'- GCCAAGTGTCATTTTCACACC -3'

Sequencing Primer
(F):5'- TTGTTCTTTCTTCTACAAGGACATG -3'
(R):5'- AATAGGACTCCTCACCTATAGTTCTG -3'

Posted On

2020-01-23