Mutagenetix > Incidental Mutation

Incidental Mutation 'R1061:Nup43'

94499

Institutional Source

Beutler Lab

Gene Symbol

Nup43

Ensembl Gene

ENSMUSG00000040034

Gene Name

nucleoporin 43

Synonyms

2610529I12Rik, 2610016K01Rik, 43kDa, p42

MMRRC Submission

039147-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1061 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

7543267-7554645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 7543435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 37 (W37L)

Ref Sequence

ENSEMBL: ENSMUSP00000046732 (fasta)

Gene Model

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

AlphaFold

P59235

Predicted Effect

probably damaging
Transcript: ENSMUST00000040135
AA Change: W37L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034
AA Change: W37L

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: 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

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,108,153 (GRCm39)	A715T	probably benign	Het
Ampd2	A	G	3: 107,983,005 (GRCm39)	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,531,248 (GRCm39)	V171E	probably damaging	Het
Arid4a	T	A	12: 71,121,729 (GRCm39)	S381R	probably damaging	Het
Armc8	T	G	9: 99,419,784 (GRCm39)	N51H	probably damaging	Het
Asic5	T	A	3: 81,928,308 (GRCm39)	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,114,069 (GRCm39)	K471*	probably null	Het
Birc6	A	G	17: 74,996,307 (GRCm39)	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,746,409 (GRCm39)	I139T	probably benign	Het
Ccdc60	C	A	5: 116,310,527 (GRCm39)	R178S	possibly damaging	Het
Cd163	C	T	6: 124,286,128 (GRCm39)	A226V	probably benign	Het
Cibar2	C	A	8: 120,896,443 (GRCm39)		probably null	Het
Cog1	T	G	11: 113,542,863 (GRCm39)	S170A	probably benign	Het
Cwc15	T	C	9: 14,419,211 (GRCm39)	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,923,643 (GRCm39)	D333E	probably benign	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Dlc1	T	A	8: 37,325,205 (GRCm39)	T367S	probably benign	Het
Dnah17	T	C	11: 117,943,514 (GRCm39)	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,452,486 (GRCm39)	Y165*	probably null	Het
Eml6	T	C	11: 29,727,267 (GRCm39)	D1285G	probably damaging	Het
Fasn	T	C	11: 120,713,008 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,187,883 (GRCm39)	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713 (GRCm38)	Y384C	probably damaging	Het
Flvcr1	A	T	1: 190,740,370 (GRCm39)	V550E	probably benign	Het
Gcm2	A	G	13: 41,259,347 (GRCm39)	W41R	probably damaging	Het
Gli2	A	T	1: 118,782,247 (GRCm39)	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,057,623 (GRCm39)	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,181,135 (GRCm39)	S66T	probably benign	Het
Hsph1	A	T	5: 149,541,883 (GRCm39)	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,929,915 (GRCm39)	V220M	probably damaging	Het
Klhl25	T	A	7: 75,516,268 (GRCm39)	Y391*	probably null	Het
Mc2r	A	T	18: 68,540,880 (GRCm39)	Y138N	probably damaging	Het
Mtap	C	A	4: 89,074,821 (GRCm39)	D106E	probably benign	Het
Nxpe2	T	A	9: 48,237,663 (GRCm39)	E197D	probably damaging	Het
Odad1	T	C	7: 45,591,179 (GRCm39)	I218T	probably damaging	Het
Or10d1c	C	A	9: 38,893,779 (GRCm39)	C187F	probably damaging	Het
Or55b4	T	A	7: 102,133,321 (GRCm39)	*335C	probably null	Het
Or5p60	T	C	7: 107,723,663 (GRCm39)	Y269C	probably damaging	Het
Or8h8	A	T	2: 86,753,126 (GRCm39)	V250D	possibly damaging	Het
Pitrm1	A	G	13: 6,605,611 (GRCm39)	H186R	probably damaging	Het
Pklr	C	T	3: 89,052,188 (GRCm39)	R467C	probably damaging	Het
Plxna2	A	G	1: 194,326,401 (GRCm39)	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,558,682 (GRCm39)		probably null	Het
R3hcc1l	C	T	19: 42,571,865 (GRCm39)	R135*	probably null	Het
Ralyl	A	C	3: 14,180,761 (GRCm39)	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
S100a1	T	C	3: 90,418,619 (GRCm39)	N65S	probably damaging	Het
Scn11a	A	T	9: 119,624,729 (GRCm39)	M531K	probably damaging	Het
Slc5a5	T	A	8: 71,342,865 (GRCm39)	M232L	probably benign	Het
Tet3	A	T	6: 83,350,305 (GRCm39)	N1054K	probably damaging	Het
Tg	A	G	15: 66,570,408 (GRCm39)	N1427D	probably benign	Het
Tns1	A	C	1: 73,956,831 (GRCm39)	V530G	probably damaging	Het
Trcg1	C	A	9: 57,153,156 (GRCm39)	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,468,131 (GRCm39)	E40G	probably damaging	Het
Usp34	T	C	11: 23,334,420 (GRCm39)	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,038,603 (GRCm39)	T726I	probably benign	Het
Vmn2r97	A	T	17: 19,148,440 (GRCm39)	R112*	probably null	Het
Vwa2	G	T	19: 56,897,426 (GRCm39)	R577L	probably benign	Het
Vwa3b	A	C	1: 37,196,511 (GRCm39)	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,958,725 (GRCm39)		probably null	Het
Wrap53	A	G	11: 69,453,226 (GRCm39)	L405P	probably damaging	Het
Zfp629	C	A	7: 127,211,161 (GRCm39)	W216L	probably damaging	Het

Other mutations in Nup43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Nup43	APN	10	7,545,320 (GRCm39)	missense	probably benign
IGL02029:Nup43	APN	10	7,543,347 (GRCm39)	missense	possibly damaging	0.87
IGL02375:Nup43	APN	10	7,549,358 (GRCm39)	missense	probably damaging	1.00
R0413:Nup43	UTSW	10	7,546,791 (GRCm39)	missense	probably benign	0.05
R1892:Nup43	UTSW	10	7,549,373 (GRCm39)	missense	probably damaging	0.99
R2960:Nup43	UTSW	10	7,546,713 (GRCm39)	missense	probably benign
R3551:Nup43	UTSW	10	7,550,778 (GRCm39)	missense	possibly damaging	0.93
R4772:Nup43	UTSW	10	7,554,433 (GRCm39)	nonsense	probably null
R6179:Nup43	UTSW	10	7,554,437 (GRCm39)	missense	probably benign	0.40
R6346:Nup43	UTSW	10	7,550,826 (GRCm39)	missense	probably damaging	1.00
R8073:Nup43	UTSW	10	7,546,713 (GRCm39)	missense	probably benign
R8220:Nup43	UTSW	10	7,552,097 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGCAGTGTGCTTTCTGCTGAAC -3'
(R):5'- GGCGACCTTGCTTCAATAGCATCTC -3'

Sequencing Primer
(F):5'- TGCTGAACCTTCTTGCTGG -3'
(R):5'- TTTGGACGGTATGACTACAGAC -3'

Posted On

2014-01-05