Mutagenetix > Incidental Mutation

Incidental Mutation 'R1659:Nup205'

186586

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

039695-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35154551-35224534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35211723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1688 (M1688K)

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: M1635K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: M1635K

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: M1688K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: M1688K

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: ENSMUST00000201609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201842

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.4%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,114,633 (GRCm39)	L87Q	probably damaging	Het
Atp13a5	T	G	16: 29,112,251 (GRCm39)	D630A	probably benign	Het
Brd7	G	T	8: 89,060,420 (GRCm39)	P568T	probably damaging	Het
Ccdc141	A	G	2: 76,885,027 (GRCm39)	L538P	probably benign	Het
Cd177	G	T	7: 24,445,562 (GRCm39)	T627K	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdhr2	T	A	13: 54,867,574 (GRCm39)	I468N	probably damaging	Het
Cdk14	T	C	5: 4,999,571 (GRCm39)	T338A	probably benign	Het
Celsr2	G	A	3: 108,321,411 (GRCm39)	T467I	probably benign	Het
Chrd	A	G	16: 20,554,581 (GRCm39)	E380G	probably damaging	Het
Cnnm4	C	A	1: 36,511,246 (GRCm39)	T158N	probably benign	Het
Ddx51	T	A	5: 110,802,986 (GRCm39)	I254N	probably damaging	Het
Deptor	G	A	15: 55,081,670 (GRCm39)		probably null	Het
Dnah11	T	A	12: 118,084,459 (GRCm39)	H1215L	possibly damaging	Het
Dock1	A	G	7: 134,390,972 (GRCm39)	Y744C	probably damaging	Het
Dok7	C	T	5: 35,236,483 (GRCm39)	T257I	possibly damaging	Het
Eif4g1	T	C	16: 20,499,811 (GRCm39)	Y591H	probably damaging	Het
Fat3	T	C	9: 15,908,479 (GRCm39)	T2508A	possibly damaging	Het
Gm266	A	G	12: 111,451,723 (GRCm39)	V161A	probably damaging	Het
Golgb1	A	G	16: 36,707,979 (GRCm39)	I107V	probably benign	Het
Gpnmb	T	C	6: 49,024,786 (GRCm39)	F273L	probably damaging	Het
Hcn1	A	T	13: 118,112,610 (GRCm39)	Q858L	probably damaging	Het
Hcrtr1	G	T	4: 130,029,129 (GRCm39)	Y224*	probably null	Het
Hepacam	A	G	9: 37,291,954 (GRCm39)	D94G	probably benign	Het
Herc2	T	A	7: 55,784,853 (GRCm39)	H1432Q	probably benign	Het
Il20	T	A	1: 130,836,086 (GRCm39)		probably null	Het
Itga10	A	G	3: 96,570,293 (GRCm39)	T1150A	probably damaging	Het
Itgax	C	T	7: 127,730,063 (GRCm39)	T73I	probably benign	Het
Kdm6b	T	A	11: 69,298,414 (GRCm39)	Q98L	possibly damaging	Het
Lrrc7	A	G	3: 157,867,045 (GRCm39)	W899R	probably damaging	Het
Meikin	C	A	11: 54,281,392 (GRCm39)	S154*	probably null	Het
Mrgprg	A	T	7: 143,318,288 (GRCm39)	S275T	possibly damaging	Het
Mstn	C	T	1: 53,103,236 (GRCm39)	R191*	probably null	Het
Neu3	A	G	7: 99,462,640 (GRCm39)	I361T	probably damaging	Het
Nrxn3	A	G	12: 90,299,165 (GRCm39)	D425G	probably damaging	Het
Omg	C	T	11: 79,393,726 (GRCm39)	C44Y	possibly damaging	Het
Or1d2	A	T	11: 74,255,759 (GRCm39)	Q88L	probably benign	Het
Or52n3	A	G	7: 104,530,387 (GRCm39)	M158V	probably benign	Het
Pcdh8	T	C	14: 80,005,574 (GRCm39)	D938G	probably damaging	Het
Pp2d1	T	C	17: 53,822,406 (GRCm39)	D220G	possibly damaging	Het
Prune2	C	T	19: 17,098,015 (GRCm39)	T1173I	possibly damaging	Het
Rbfox3	T	C	11: 118,384,981 (GRCm39)	T359A	probably damaging	Het
Rhpn2	A	G	7: 35,076,466 (GRCm39)	Y339C	probably damaging	Het
Rpl7a-ps3	A	G	15: 36,308,309 (GRCm39)		noncoding transcript	Het
Sars1	T	C	3: 108,336,732 (GRCm39)	E217G	probably damaging	Het
Sec61a2	A	G	2: 5,891,345 (GRCm39)	F62S	possibly damaging	Het
Slc12a7	T	A	13: 73,938,790 (GRCm39)	I189N	probably damaging	Het
Slc5a10	G	A	11: 61,567,070 (GRCm39)	A375V	possibly damaging	Het
Srfbp1	C	T	18: 52,621,967 (GRCm39)	H343Y	possibly damaging	Het
Tbck	T	G	3: 132,440,116 (GRCm39)	I486M	probably damaging	Het
Thra	G	A	11: 98,647,805 (GRCm39)	A60T	probably damaging	Het
Thsd7a	T	A	6: 12,504,063 (GRCm39)	T364S	possibly damaging	Het
Ttc16	C	T	2: 32,652,547 (GRCm39)	D761N	probably benign	Het
Vwa7	T	C	17: 35,238,047 (GRCm39)	L216P	probably benign	Het
Ydjc	T	C	16: 16,965,703 (GRCm39)	V156A	possibly 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
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
R4594:Nup205	UTSW	6	35,173,424 (GRCm39)	missense	probably benign	0.00
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'- TGTGTTGCCTCCTGAGAAGGGAAG -3'
(R):5'- CCTCGCTAAATCCCTGGCTAAAATGTC -3'

Sequencing Primer
(F):5'- CTCTCTGTGTAAGGAGAGTCAAGC -3'
(R):5'- CTACAATGTTCCATTCATGGGGG -3'

Posted On

2014-05-09