Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Nup205'

344255

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

041810-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35154551-35224534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35173424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 478 (I478T)

Ref Sequence

ENSEMBL: ENSMUSP00000144126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043815] [ENSMUST00000170234] [ENSMUST00000201374]

AlphaFold

A0A0J9YUD5

Predicted Effect

probably benign
Transcript: ENSMUST00000043815
AA Change: I425T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: I425T

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Nup192	14	1684	N/A	PFAM
low complexity region	1995	2005	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170234

SMART Domains

Protein: ENSMUSP00000130033
Gene: ENSMUSG00000038759

Domain	Start	End	E-Value	Type
Pfam:DUF3414	13	322	9.7e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201374
AA Change: I478T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: I478T

Domain	Start	End	E-Value	Type
low complexity region	36	50	N/A	INTRINSIC
Pfam:Nup192	67	1737	N/A	PFAM
low complexity region	2048	2058	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202898

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]

Allele List at MGI

All alleles(32) : Targeted(2) Gene trapped(30)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,625,754 (GRCm39)	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,754,331 (GRCm39)	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,832,743 (GRCm39)	I264N	probably damaging	Het
Alpk1	G	A	3: 127,477,203 (GRCm39)	A285V	probably damaging	Het
Auh	T	C	13: 53,067,002 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 28,704,303 (GRCm39)	F826S	probably benign	Het
Ccdc54	G	T	16: 50,410,380 (GRCm39)	Y295*	probably null	Het
Ctnna3	G	A	10: 64,421,858 (GRCm39)	V551I	probably benign	Het
Diaph3	C	T	14: 87,223,473 (GRCm39)	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,519,196 (GRCm39)	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,824,742 (GRCm39)	F243S	probably damaging	Het
Fat2	T	C	11: 55,175,578 (GRCm39)	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 26,063,852 (GRCm39)	V793A	probably damaging	Het
Got2	T	C	8: 96,598,814 (GRCm39)	E196G	probably benign	Het
Gsk3b	G	A	16: 37,991,063 (GRCm39)	C107Y	possibly damaging	Het
H2-M5	T	C	17: 37,298,697 (GRCm39)	T250A	possibly damaging	Het
Il17f	T	A	1: 20,848,026 (GRCm39)	T151S	probably damaging	Het
Ints12	A	G	3: 132,814,629 (GRCm39)	N279D	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kynu	T	A	2: 43,569,902 (GRCm39)	S395T	probably benign	Het
Llgl1	C	T	11: 60,597,147 (GRCm39)	T226I	probably benign	Het
Mael	T	A	1: 166,063,056 (GRCm39)	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,256,109 (GRCm39)	R49S	probably benign	Het
Meioc	G	T	11: 102,564,992 (GRCm39)	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 39,883,313 (GRCm39)	S46P	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,348,632 (GRCm39)	Y268*	probably null	Het
Myom1	A	G	17: 71,407,069 (GRCm39)	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,270,046 (GRCm39)		probably null	Het
Nfe2	A	G	15: 103,157,232 (GRCm39)	L253S	probably damaging	Het
Nxpe2	T	C	9: 48,230,782 (GRCm39)	D529G	probably damaging	Het
Oard1	T	C	17: 48,722,267 (GRCm39)	S88P	possibly damaging	Het
Or11g25	A	G	14: 50,723,619 (GRCm39)	R235G	probably benign	Het
Or2p2	C	T	13: 21,256,692 (GRCm39)	V260I	probably benign	Het
Or4n4	G	A	14: 50,519,140 (GRCm39)	T190I	probably benign	Het
Or51k1	T	C	7: 103,661,624 (GRCm39)	D95G	probably benign	Het
Or52e5	T	C	7: 104,718,797 (GRCm39)	V41A	probably benign	Het
Or6k6	G	T	1: 173,944,886 (GRCm39)	T232N	probably damaging	Het
Or8b1	A	C	9: 38,400,057 (GRCm39)	H244P	probably damaging	Het
Osgin1	C	T	8: 120,171,992 (GRCm39)	T262I	possibly damaging	Het
Plcb4	A	T	2: 135,844,519 (GRCm39)	M146L	probably damaging	Het
Prkdc	A	T	16: 15,585,830 (GRCm39)	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,078,045 (GRCm39)	A1004V	probably damaging	Het
Rab15	G	A	12: 76,847,445 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,507,881 (GRCm39)	V601A	probably benign	Het
Rasef	T	A	4: 73,698,626 (GRCm39)	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,444,567 (GRCm39)	N139K	probably damaging	Het
Rexo2	A	T	9: 48,391,717 (GRCm39)	V46E	probably damaging	Het
Rskr	T	A	11: 78,182,473 (GRCm39)	V94D	possibly damaging	Het
Slmap	A	T	14: 26,186,772 (GRCm39)	L68H	probably damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,325,894 (GRCm39)	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,970,005 (GRCm39)	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,234,301 (GRCm39)	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,294,231 (GRCm39)	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,613,924 (GRCm39)	D548V	probably damaging	Het
Wdr81	T	C	11: 75,336,620 (GRCm39)	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,319,054 (GRCm39)	N291K	possibly damaging	Het
Zfp119a	G	A	17: 56,173,325 (GRCm39)	R173C	probably benign	Het
Zmynd15	T	C	11: 70,355,008 (GRCm39)	L335P	probably damaging	Het

Other mutations in Nup205

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Nup205	APN	6	35,191,737 (GRCm39)	missense	probably damaging	1.00
IGL01086:Nup205	APN	6	35,185,871 (GRCm39)	splice site	probably benign
IGL01138:Nup205	APN	6	35,185,019 (GRCm39)	nonsense	probably null
IGL01333:Nup205	APN	6	35,217,998 (GRCm39)	missense	probably benign
IGL01399:Nup205	APN	6	35,196,624 (GRCm39)	missense	possibly damaging	0.80
IGL01466:Nup205	APN	6	35,176,894 (GRCm39)	missense	probably benign	0.08
IGL01913:Nup205	APN	6	35,204,365 (GRCm39)	missense	probably benign	0.10
IGL02159:Nup205	APN	6	35,166,113 (GRCm39)	missense	probably damaging	1.00
IGL02442:Nup205	APN	6	35,167,003 (GRCm39)	missense	probably benign	0.01
IGL02447:Nup205	APN	6	35,204,511 (GRCm39)	splice site	probably null
IGL02558:Nup205	APN	6	35,166,859 (GRCm39)	missense	probably damaging	1.00
IGL03306:Nup205	APN	6	35,185,104 (GRCm39)	missense	probably damaging	0.98
IGL03328:Nup205	APN	6	35,209,349 (GRCm39)	missense	probably damaging	0.99
Figaro	UTSW	6	35,173,649 (GRCm39)	splice site	probably null
Marcellina	UTSW	6	35,160,904 (GRCm39)	missense	probably damaging	1.00
Spirit	UTSW	6	35,209,343 (GRCm39)	missense	probably damaging	0.98
Susanna	UTSW	6	35,185,044 (GRCm39)	missense	possibly damaging	0.94
voyager	UTSW	6	35,166,820 (GRCm39)	missense	possibly damaging	0.80
BB007:Nup205	UTSW	6	35,171,511 (GRCm39)	missense	probably damaging	0.98
BB017:Nup205	UTSW	6	35,171,511 (GRCm39)	missense	probably damaging	0.98
P0012:Nup205	UTSW	6	35,173,478 (GRCm39)	missense	possibly damaging	0.90
R0102:Nup205	UTSW	6	35,202,715 (GRCm39)	splice site	probably benign
R0102:Nup205	UTSW	6	35,202,715 (GRCm39)	splice site	probably benign
R0362:Nup205	UTSW	6	35,173,649 (GRCm39)	splice site	probably null
R0374:Nup205	UTSW	6	35,185,772 (GRCm39)	missense	probably damaging	1.00
R0415:Nup205	UTSW	6	35,191,569 (GRCm39)	splice site	probably benign
R0427:Nup205	UTSW	6	35,171,398 (GRCm39)	missense	probably benign	0.01
R0543:Nup205	UTSW	6	35,175,904 (GRCm39)	missense	probably benign
R0611:Nup205	UTSW	6	35,202,903 (GRCm39)	missense	probably null	1.00
R0761:Nup205	UTSW	6	35,173,363 (GRCm39)	splice site	probably benign
R0828:Nup205	UTSW	6	35,171,501 (GRCm39)	missense	probably benign
R0906:Nup205	UTSW	6	35,213,827 (GRCm39)	missense	probably damaging	1.00
R1023:Nup205	UTSW	6	35,211,641 (GRCm39)	missense	probably damaging	0.98
R1033:Nup205	UTSW	6	35,204,377 (GRCm39)	missense	probably benign
R1375:Nup205	UTSW	6	35,177,006 (GRCm39)	splice site	probably benign
R1447:Nup205	UTSW	6	35,192,120 (GRCm39)	missense	probably benign	0.00
R1468:Nup205	UTSW	6	35,202,917 (GRCm39)	critical splice donor site	probably null
R1468:Nup205	UTSW	6	35,202,917 (GRCm39)	critical splice donor site	probably null
R1625:Nup205	UTSW	6	35,168,878 (GRCm39)	missense	probably benign	0.31
R1652:Nup205	UTSW	6	35,215,901 (GRCm39)	missense	probably benign
R1659:Nup205	UTSW	6	35,211,723 (GRCm39)	missense	probably benign	0.02
R1693:Nup205	UTSW	6	35,187,906 (GRCm39)	missense	probably benign	0.05
R1769:Nup205	UTSW	6	35,182,366 (GRCm39)	missense	probably damaging	1.00
R1839:Nup205	UTSW	6	35,196,649 (GRCm39)	missense	probably benign	0.00
R1959:Nup205	UTSW	6	35,210,301 (GRCm39)	missense	probably benign	0.16
R2051:Nup205	UTSW	6	35,207,451 (GRCm39)	missense	probably benign	0.29
R2267:Nup205	UTSW	6	35,218,284 (GRCm39)	missense	possibly damaging	0.67
R2401:Nup205	UTSW	6	35,185,069 (GRCm39)	nonsense	probably null
R3697:Nup205	UTSW	6	35,165,646 (GRCm39)	missense	probably benign	0.15
R3938:Nup205	UTSW	6	35,196,677 (GRCm39)	missense	probably damaging	1.00
R4074:Nup205	UTSW	6	35,168,975 (GRCm39)	critical splice donor site	probably null
R4117:Nup205	UTSW	6	35,217,947 (GRCm39)	nonsense	probably null
R4364:Nup205	UTSW	6	35,168,962 (GRCm39)	missense	probably benign	0.38
R4366:Nup205	UTSW	6	35,168,962 (GRCm39)	missense	probably benign	0.38
R4706:Nup205	UTSW	6	35,178,943 (GRCm39)	missense	probably damaging	1.00
R4787:Nup205	UTSW	6	35,178,996 (GRCm39)	missense	probably damaging	1.00
R4849:Nup205	UTSW	6	35,207,505 (GRCm39)	missense	possibly damaging	0.90
R4850:Nup205	UTSW	6	35,207,465 (GRCm39)	missense	probably benign	0.16
R4943:Nup205	UTSW	6	35,201,574 (GRCm39)	missense	probably damaging	1.00
R4966:Nup205	UTSW	6	35,220,784 (GRCm39)	missense	probably benign	0.00
R5138:Nup205	UTSW	6	35,202,801 (GRCm39)	missense	probably damaging	1.00
R5251:Nup205	UTSW	6	35,173,417 (GRCm39)	splice site	probably null
R5444:Nup205	UTSW	6	35,166,124 (GRCm39)	missense	probably damaging	0.98
R5760:Nup205	UTSW	6	35,224,278 (GRCm39)	missense	probably damaging	1.00
R5762:Nup205	UTSW	6	35,207,483 (GRCm39)	missense	probably damaging	0.96
R5762:Nup205	UTSW	6	35,204,615 (GRCm39)	missense	probably damaging	1.00
R5941:Nup205	UTSW	6	35,209,343 (GRCm39)	missense	probably damaging	0.98
R5969:Nup205	UTSW	6	35,154,513 (GRCm39)	unclassified	probably benign
R6003:Nup205	UTSW	6	35,189,751 (GRCm39)	missense	probably benign
R6178:Nup205	UTSW	6	35,220,778 (GRCm39)	missense	possibly damaging	0.85
R6315:Nup205	UTSW	6	35,213,804 (GRCm39)	missense	probably damaging	1.00
R6392:Nup205	UTSW	6	35,166,820 (GRCm39)	missense	possibly damaging	0.80
R6710:Nup205	UTSW	6	35,224,308 (GRCm39)	missense	probably benign	0.00
R6954:Nup205	UTSW	6	35,185,044 (GRCm39)	missense	possibly damaging	0.94
R7022:Nup205	UTSW	6	35,220,871 (GRCm39)	missense	probably benign	0.45
R7041:Nup205	UTSW	6	35,201,470 (GRCm39)	missense	possibly damaging	0.49
R7052:Nup205	UTSW	6	35,192,077 (GRCm39)	missense	possibly damaging	0.81
R7310:Nup205	UTSW	6	35,202,904 (GRCm39)	missense	possibly damaging	0.78
R7363:Nup205	UTSW	6	35,209,508 (GRCm39)	missense	probably benign	0.28
R7399:Nup205	UTSW	6	35,191,611 (GRCm39)	missense	probably damaging	0.99
R7428:Nup205	UTSW	6	35,204,494 (GRCm39)	missense	probably damaging	1.00
R7553:Nup205	UTSW	6	35,178,934 (GRCm39)	missense	probably damaging	1.00
R7665:Nup205	UTSW	6	35,154,555 (GRCm39)	missense	possibly damaging	0.46
R7841:Nup205	UTSW	6	35,224,372 (GRCm39)	missense	unknown
R7930:Nup205	UTSW	6	35,171,511 (GRCm39)	missense	probably damaging	0.98
R7973:Nup205	UTSW	6	35,222,274 (GRCm39)	missense	probably benign
R7976:Nup205	UTSW	6	35,175,888 (GRCm39)	missense	probably damaging	1.00
R8073:Nup205	UTSW	6	35,179,104 (GRCm39)	critical splice donor site	probably null
R8080:Nup205	UTSW	6	35,204,311 (GRCm39)	missense	probably damaging	1.00
R8118:Nup205	UTSW	6	35,207,451 (GRCm39)	missense	probably benign	0.29
R8213:Nup205	UTSW	6	35,202,138 (GRCm39)	missense	probably benign	0.26
R8237:Nup205	UTSW	6	35,204,438 (GRCm39)	missense	possibly damaging	0.89
R8408:Nup205	UTSW	6	35,202,182 (GRCm39)	missense	probably damaging	1.00
R8807:Nup205	UTSW	6	35,160,904 (GRCm39)	missense	probably damaging	1.00
R8812:Nup205	UTSW	6	35,191,269 (GRCm39)	missense	probably damaging	1.00
R9061:Nup205	UTSW	6	35,196,808 (GRCm39)	intron	probably benign
R9261:Nup205	UTSW	6	35,176,792 (GRCm39)	missense	probably benign	0.00
R9403:Nup205	UTSW	6	35,176,909 (GRCm39)	missense	probably benign	0.45
R9648:Nup205	UTSW	6	35,202,746 (GRCm39)	missense	probably benign	0.00
R9744:Nup205	UTSW	6	35,209,510 (GRCm39)	missense	probably damaging	0.99
R9800:Nup205	UTSW	6	35,163,468 (GRCm39)	missense	possibly damaging	0.85
Z1177:Nup205	UTSW	6	35,185,728 (GRCm39)	critical splice acceptor site	probably null
Z1177:Nup205	UTSW	6	35,154,540 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATTGAACCATCTCCCTGGC -3'
(R):5'- ATACAGTTCACCAATCTGCAGAG -3'

Sequencing Primer
(F):5'- GGCTCTCTCTGATCCTTAAGATAC -3'
(R):5'- GTTCACCAATCTGCAGAGAATAAG -3'

Posted On

2015-09-25