Mutagenetix > Incidental Mutation

Incidental Mutation 'R6179:Nup43'

487939

Institutional Source

Beutler Lab

Gene Symbol

Nup43

Ensembl Gene

ENSMUSG00000040034

Gene Name

nucleoporin 43

Synonyms

2610529I12Rik, 2610016K01Rik, 43kDa, p42

MMRRC Submission

044321-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7543267-7554645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7554437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 340 (I340T)

Ref Sequence

ENSEMBL: ENSMUSP00000046732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040135] [ENSMUST00000159977] [ENSMUST00000162682] [ENSMUST00000165952]

AlphaFold

P59235

Predicted Effect

probably benign
Transcript: ENSMUST00000040135
AA Change: I340T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034
AA Change: I340T

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000165952

SMART Domains

Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021

Domain	Start	End	E-Value	Type
Pfam:UBA	101	138	7.4e-11	PFAM
low complexity region	228	267	N/A	INTRINSIC
low complexity region	301	314	N/A	INTRINSIC
low complexity region	371	379	N/A	INTRINSIC
low complexity region	433	445	N/A	INTRINSIC
low complexity region	482	493	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
low complexity region	554	559	N/A	INTRINSIC
S_TKc	704	1009	7.3e-99	SMART
S_TK_X	1010	1081	1.2e-2	SMART
low complexity region	1102	1120	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930426L09Rik	T	C	2: 19,003,653 (GRCm39)		probably benign	Het
4930590J08Rik	T	C	6: 91,919,311 (GRCm39)	S657P	probably damaging	Het
Abca9	T	C	11: 110,025,080 (GRCm39)	I988V	probably benign	Het
Acte1	A	G	7: 143,425,524 (GRCm39)	T58A	probably benign	Het
Aox4	T	A	1: 58,270,662 (GRCm39)	D280E	probably benign	Het
Apob	T	A	12: 8,055,060 (GRCm39)	L1353*	probably null	Het
Atp2b1	C	T	10: 98,858,691 (GRCm39)	R222C	probably damaging	Het
AW209491	T	G	13: 14,811,668 (GRCm39)	S174A	possibly damaging	Het
B930094E09Rik	G	C	18: 31,742,911 (GRCm39)		probably benign	Het
Cbln3	G	T	14: 56,121,517 (GRCm39)	P43Q	possibly damaging	Het
Ccdc181	A	T	1: 164,107,487 (GRCm39)	T57S	probably benign	Het
Ccr2	A	C	9: 123,906,008 (GRCm39)	N96T	probably damaging	Het
Cep131	T	C	11: 119,956,837 (GRCm39)	I868V	probably benign	Het
Chd2	A	G	7: 73,094,071 (GRCm39)	I1535T	probably damaging	Het
Chl1	A	T	6: 103,660,204 (GRCm39)	T377S	probably benign	Het
Cpeb3	A	G	19: 37,065,853 (GRCm39)	F439L	probably damaging	Het
Crb2	T	C	2: 37,680,269 (GRCm39)	V399A	probably damaging	Het
Cry2	C	T	2: 92,244,187 (GRCm39)	G329R	probably damaging	Het
Dock4	A	G	12: 40,781,868 (GRCm39)	E691G	probably benign	Het
Edil3	A	T	13: 88,970,108 (GRCm39)	H3L	probably benign	Het
Endod1	T	C	9: 14,268,757 (GRCm39)	I243V	probably benign	Het
Fpr3	G	A	17: 18,190,919 (GRCm39)	W63*	probably null	Het
Gtse1	T	G	15: 85,753,158 (GRCm39)	N424K	possibly damaging	Het
Kcnt1	G	A	2: 25,783,192 (GRCm39)	V252M	probably damaging	Het
Kifbp	G	A	10: 62,399,029 (GRCm39)	Q130*	probably null	Het
Lmbrd2	T	G	15: 9,149,262 (GRCm39)	I48M	probably damaging	Het
Lrrc7	T	G	3: 158,059,069 (GRCm39)	I13L	probably damaging	Het
Mbd4	A	G	6: 115,822,386 (GRCm39)	S408P	probably benign	Het
Mphosph10	A	G	7: 64,028,529 (GRCm39)	V542A	possibly damaging	Het
Msto1	C	A	3: 88,818,254 (GRCm39)	R331L	probably damaging	Het
Myh10	G	A	11: 68,692,979 (GRCm39)	E1425K	probably damaging	Het
Or1j4	T	C	2: 36,740,846 (GRCm39)	S263P	possibly damaging	Het
Pcm1	T	A	8: 41,736,669 (GRCm39)	M884K	probably damaging	Het
Phf20	T	A	2: 156,140,573 (GRCm39)	L749H	probably damaging	Het
Pigp	T	C	16: 94,171,226 (GRCm39)	R22G	probably null	Het
Polr2b	T	C	5: 77,468,824 (GRCm39)	M200T	probably damaging	Het
Ppig	T	A	2: 69,580,471 (GRCm39)	D668E	unknown	Het
Prss3	G	A	6: 41,352,060 (GRCm39)	R68C	probably benign	Het
Retreg3	G	A	11: 100,994,721 (GRCm39)		probably benign	Het
Shank1	T	C	7: 44,006,630 (GRCm39)	F2116L	possibly damaging	Het
Spg21	T	C	9: 65,376,090 (GRCm39)	S33P	possibly damaging	Het
Spns3	A	G	11: 72,390,349 (GRCm39)	S432P	probably damaging	Het
Stra6	A	G	9: 58,042,452 (GRCm39)	E27G	probably damaging	Het
Tanc1	A	G	2: 59,673,320 (GRCm39)	Q1468R	probably benign	Het
Tbce	T	G	13: 14,194,362 (GRCm39)	E99A	probably benign	Het
Tmem106b	T	C	6: 13,084,252 (GRCm39)	V252A	probably damaging	Het
Trim10	A	G	17: 37,187,923 (GRCm39)	T380A	probably damaging	Het
Trim31	T	A	17: 37,220,501 (GRCm39)	D472E	probably damaging	Het
Vmn2r28	G	A	7: 5,491,003 (GRCm39)	Q415*	probably null	Het
Vwf	G	A	6: 125,626,252 (GRCm39)	C7Y	unknown	Het
Yeats2	C	T	16: 20,033,225 (GRCm39)	P1088L	probably benign	Het
Zfp40	C	A	17: 23,397,354 (GRCm39)	V48L	possibly 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
R1061:Nup43	UTSW	10	7,543,435 (GRCm39)	missense	probably damaging	0.99
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
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'- ATTTAGTGGTACAGAGTCAGCC -3'
(R):5'- TTACAAATGCCACTTTCTGGTG -3'

Sequencing Primer
(F):5'- TCAGGACATAAACTCTGAGCTGCTG -3'
(R):5'- GCCACTTTCTGGTGATAAAATTTTG -3'

Posted On

2017-10-10