Mutagenetix > Incidental Mutation

Incidental Mutation 'R0828:Nup205'

78373

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

039008-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0828 (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 35171501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 455 (F455L)

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: F402L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: F402L

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: F455L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: F455L

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: 99.4%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	C	T	11: 25,602,020 (GRCm39)	C70Y	unknown	Het
Abi3bp	C	T	16: 56,498,193 (GRCm39)	T929I	probably damaging	Het
Adap2	C	A	11: 80,056,490 (GRCm39)		probably benign	Het
Adgrg5	A	G	8: 95,668,413 (GRCm39)		probably null	Het
Afdn	C	A	17: 14,124,260 (GRCm39)	N1803K	probably damaging	Het
Alox12b	T	C	11: 69,057,132 (GRCm39)	L451P	possibly damaging	Het
Ankrd26	T	C	6: 118,510,434 (GRCm39)		probably benign	Het
Bcr	A	T	10: 74,993,039 (GRCm39)		probably benign	Het
Cacna1c	T	C	6: 118,734,347 (GRCm39)	N300D	probably benign	Het
Camsap1	G	T	2: 25,829,097 (GRCm39)	Q876K	probably damaging	Het
Cdh10	A	G	15: 18,986,837 (GRCm39)	D356G	possibly damaging	Het
Cdipt	T	A	7: 126,576,092 (GRCm39)	Y16N	probably damaging	Het
Cebpz	T	C	17: 79,233,411 (GRCm39)	E772G	probably benign	Het
Cep350	A	G	1: 155,828,992 (GRCm39)	I304T	probably benign	Het
Chpt1	C	A	10: 88,312,277 (GRCm39)	G9V	probably damaging	Het
Col6a5	T	A	9: 105,739,263 (GRCm39)		probably null	Het
Dock7	G	T	4: 98,903,982 (GRCm39)	P688T	probably damaging	Het
Ephb3	T	A	16: 21,037,784 (GRCm39)		probably benign	Het
Fcgr2b	T	C	1: 170,788,599 (GRCm39)	Y336C	probably damaging	Het
Flg2	A	T	3: 93,110,639 (GRCm39)	H889L	unknown	Het
Gucy2c	C	T	6: 136,686,746 (GRCm39)	V806M	probably damaging	Het
Hmgxb3	T	A	18: 61,304,426 (GRCm39)	I55F	probably damaging	Het
Igsf9b	T	A	9: 27,230,901 (GRCm39)	Y301*	probably null	Het
Il12rb2	C	T	6: 67,333,691 (GRCm39)	R196H	probably benign	Het
Itgam	T	C	7: 127,715,677 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,943 (GRCm39)	V283A	probably damaging	Het
Klhl5	T	C	5: 65,320,135 (GRCm39)	L423P	probably damaging	Het
Krt6a	T	C	15: 101,602,271 (GRCm39)	N138S	probably damaging	Het
Lrba	A	T	3: 86,515,677 (GRCm39)		probably null	Het
Map4k5	T	C	12: 69,852,100 (GRCm39)	T828A	probably damaging	Het
Marchf8	T	A	6: 116,382,639 (GRCm39)	M434K	probably benign	Het
Mink1	C	T	11: 70,500,971 (GRCm39)	Q743*	probably null	Het
Mrgpra3	T	C	7: 47,239,884 (GRCm39)	N14S	probably benign	Het
Mroh7	T	C	4: 106,557,073 (GRCm39)	S808G	probably damaging	Het
Msi1	T	C	5: 115,568,953 (GRCm39)		probably null	Het
Nrap	A	G	19: 56,333,990 (GRCm39)	Y874H	probably damaging	Het
Or2t1	G	T	14: 14,328,800 (GRCm38)	V230L	probably benign	Het
Piwil2	A	G	14: 70,613,466 (GRCm39)	V894A	probably damaging	Het
Polr1c	A	G	17: 46,555,990 (GRCm39)	S173P	probably damaging	Het
Pphln1-ps1	A	G	16: 13,495,669 (GRCm39)	Y256C	probably damaging	Het
Prep	C	T	10: 45,031,621 (GRCm39)	A564V	probably benign	Het
Rab3gap1	T	C	1: 127,865,922 (GRCm39)		probably benign	Het
Rcc1	G	C	4: 132,063,136 (GRCm39)		probably benign	Het
Scn11a	T	A	9: 119,584,073 (GRCm39)	D1514V	probably benign	Het
Setdb1	G	A	3: 95,246,171 (GRCm39)	P584S	probably damaging	Het
Slc12a7	A	G	13: 73,936,771 (GRCm39)	I144V	probably benign	Het
Slc45a4	T	C	15: 73,458,665 (GRCm39)	M295V	probably benign	Het
Slco1a1	T	A	6: 141,867,565 (GRCm39)	D456V	possibly damaging	Het
Sspo	G	T	6: 48,475,668 (GRCm39)	C4928F	probably damaging	Het
St6galnac1	T	A	11: 116,659,823 (GRCm39)	K163N	probably benign	Het
Tcp11l1	A	T	2: 104,530,181 (GRCm39)		probably benign	Het
Tns1	T	A	1: 73,958,825 (GRCm39)	I1715F	probably damaging	Het
Trpa1	C	T	1: 14,946,108 (GRCm39)	V1008M	probably damaging	Het
Ttc28	A	G	5: 111,371,312 (GRCm39)	E587G	probably damaging	Het
Ubr4	T	C	4: 139,177,864 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp8	G	A	2: 126,584,034 (GRCm39)		probably benign	Het
Zfc3h1	G	T	10: 115,237,612 (GRCm39)	A464S	possibly damaging	Het
Zfp106	T	C	2: 120,366,084 (GRCm39)	I108V	probably benign	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
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
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'- TCTGAATCTGTAGCCCTGGCTGAG -3'
(R):5'- ACCATCCAGACTGTACATATGCTGACT -3'

Sequencing Primer
(F):5'- GTTCACAGAAGCAGATGAAGC -3'
(R):5'- gttaagagcaccaactatacttcc -3'

Posted On

2013-10-16