Mutagenetix > Incidental Mutation

Incidental Mutation 'R4117:Nup205'

315129

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

040991-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35154551-35224534 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 35217947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1767 (Q1767*)

Ref Sequence

ENSEMBL: ENSMUSP00000144126 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUD5

Predicted Effect

probably null
Transcript: ENSMUST00000043815
AA Change: Q1714*

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: Q1714*

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

noncoding transcript
Transcript: ENSMUST00000157183

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

noncoding transcript
Transcript: ENSMUST00000200739

Predicted Effect

probably null
Transcript: ENSMUST00000201374
AA Change: Q1767*

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: Q1767*

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (31/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	C	2: 155,398,313 (GRCm39)	F358L	probably damaging	Het
Adamts16	A	G	13: 70,916,111 (GRCm39)	Y775H	probably benign	Het
Bard1	A	T	1: 71,085,922 (GRCm39)	H594Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cenpt	G	A	8: 106,576,332 (GRCm39)	S73L	probably benign	Het
Ctdnep1	C	A	11: 69,879,497 (GRCm39)	A7D	probably damaging	Het
Fam210b	T	C	2: 172,193,486 (GRCm39)	S100P	probably benign	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
H2-T15	T	C	17: 36,368,496 (GRCm39)	D144G	probably damaging	Het
Heph	T	C	X: 95,544,221 (GRCm39)	V615A	probably benign	Het
Icam5	T	A	9: 20,948,886 (GRCm39)	V746E	probably damaging	Het
Maml2	A	G	9: 13,617,230 (GRCm39)	Q192R	probably damaging	Het
Npas4	T	C	19: 5,037,391 (GRCm39)	Y301C	probably damaging	Het
Or51f5	T	A	7: 102,423,684 (GRCm39)		probably null	Het
Pigg	A	G	5: 108,495,908 (GRCm39)	R982G	probably benign	Het
Plekhg2	A	T	7: 28,060,313 (GRCm39)	H1005Q	probably benign	Het
Rdh12	C	T	12: 79,260,419 (GRCm39)	R172C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Semp2l2b	T	A	10: 21,943,615 (GRCm39)	N122Y	probably benign	Het
Septin4	T	C	11: 87,459,108 (GRCm39)	F494S	probably damaging	Het
Serpinb9	T	A	13: 33,199,579 (GRCm39)	D291E	probably benign	Het
She	A	T	3: 89,759,679 (GRCm39)	Y394F	probably damaging	Het
Sipa1l2	T	C	8: 126,195,249 (GRCm39)	S830G	probably damaging	Het
Stmn4	T	C	14: 66,598,581 (GRCm39)	*217Q	probably null	Het
Stx17	A	G	4: 48,180,689 (GRCm39)	D178G	probably damaging	Het
Tbc1d9	T	G	8: 83,992,776 (GRCm39)	I960S	possibly damaging	Het
Ubxn10	G	T	4: 138,448,276 (GRCm39)	D133E	probably benign	Het
Vmn2r42	T	C	7: 8,197,839 (GRCm39)	Y260C	probably damaging	Het
Vmn2r7	A	C	3: 64,623,138 (GRCm39)		probably benign	Het
Zfp143	C	T	7: 109,691,120 (GRCm39)	T557I	probably damaging	Het
Zfp607b	A	G	7: 27,398,107 (GRCm39)	I64V	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
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'- TTTGCAGAAAAGGTGAATCCCAG -3'
(R):5'- TGTGAAATTACGCACAACTGC -3'

Sequencing Primer
(F):5'- GTGAATCCCAGGAAGCTTACCTTAG -3'
(R):5'- CGCACAACTGCTATTTTTGTCAAAC -3'

Posted On

2015-05-14