Mutagenetix > Incidental Mutation

Incidental Mutation 'R5969:Nup205'

501960

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

044152-MU

Accession Numbers

NCBI RefSeq: NM_027513.1; MGI:2141625

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5969 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

35177421-35247596 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 35177578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130033 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUD5

Predicted Effect

probably benign
Transcript: ENSMUST00000043815

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759

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

unknown
Transcript: ENSMUST00000201374
AA Change: P39L

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: P39L

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

99% (67/68)

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
Aaas	A	C	15: 102,350,564 (GRCm38)	Y19D	probably damaging	Het
Abca13	T	A	11: 9,292,214 (GRCm38)	L1359*	probably null	Het
Ahi1	A	T	10: 20,984,393 (GRCm38)	D671V	probably damaging	Het
Ahnak	T	C	19: 9,016,585 (GRCm38)	S5078P	probably damaging	Het
Ankhd1	A	T	18: 36,600,834 (GRCm38)	T584S	probably damaging	Het
Apba2	T	A	7: 64,744,447 (GRCm38)	L568*	probably null	Het
Cenpn	C	A	8: 116,940,537 (GRCm38)	L300I	probably damaging	Het
Cmya5	A	T	13: 93,089,544 (GRCm38)	L3012Q	possibly damaging	Het
Cnnm1	T	C	19: 43,491,472 (GRCm38)	S819P	probably damaging	Het
Cpa6	A	T	1: 10,488,883 (GRCm38)	S87T	probably benign	Het
Crybg2	T	A	4: 134,075,692 (GRCm38)		probably null	Het
Csmd1	T	A	8: 16,071,353 (GRCm38)	T1777S	probably benign	Het
Csmd3	G	T	15: 47,947,990 (GRCm38)	P1235Q	probably damaging	Het
Cxcr4	T	A	1: 128,589,847 (GRCm38)	N24Y	probably benign	Het
D630003M21Rik	G	T	2: 158,217,708 (GRCm38)	H91N	probably damaging	Het
Ece1	T	C	4: 137,961,740 (GRCm38)		probably null	Het
Edc3	T	C	9: 57,713,428 (GRCm38)	S11P	probably damaging	Het
Exoc3	G	A	13: 74,172,186 (GRCm38)	Q719*	probably null	Het
Fam13a	A	G	6: 58,965,198 (GRCm38)	M203T	probably damaging	Het
Fam160b1	C	T	19: 57,384,123 (GRCm38)	R602*	probably null	Het
Fchsd1	C	T	18: 37,959,873 (GRCm38)		probably benign	Het
Fxyd2	T	A	9: 45,408,330 (GRCm38)	I30N	probably damaging	Het
Gapt	A	G	13: 110,353,946 (GRCm38)	V61A	probably benign	Het
Glb1l2	C	T	9: 26,780,742 (GRCm38)	A74T	probably damaging	Het
Gm2035	T	C	12: 87,919,478 (GRCm38)	D127G	unknown	Het
Gpr35	T	C	1: 92,983,220 (GRCm38)	V2A	probably damaging	Het
Gtf3c1	A	G	7: 125,645,676 (GRCm38)	S1729P	possibly damaging	Het
Heatr5a	T	C	12: 51,959,040 (GRCm38)	T51A	probably benign	Het
Kat6b	G	A	14: 21,670,792 (GRCm38)	M1737I	probably damaging	Het
Kif20a	G	A	18: 34,632,415 (GRCm38)	A822T	probably benign	Het
Klk10	A	G	7: 43,784,985 (GRCm38)	Y267C	probably damaging	Het
Lgmn	T	C	12: 102,405,827 (GRCm38)	Y98C	probably damaging	Het
Lyst	A	C	13: 13,687,813 (GRCm38)		probably null	Het
Man2a1	A	G	17: 64,625,380 (GRCm38)	K154R	probably benign	Het
Mfng	A	T	15: 78,764,382 (GRCm38)	V165D	possibly damaging	Het
Mto1	A	G	9: 78,452,905 (GRCm38)	E225G	probably damaging	Het
Notch3	C	A	17: 32,153,884 (GRCm38)	C571F	probably damaging	Het
Olfr65	T	A	7: 103,906,910 (GRCm38)	I157N	probably damaging	Het
P2ry14	T	A	3: 59,115,158 (GRCm38)	I303F	probably damaging	Het
Pcnx3	T	C	19: 5,685,535 (GRCm38)	D421G	probably damaging	Het
Pdlim4	T	C	11: 54,063,656 (GRCm38)	H75R	possibly damaging	Het
Phf21a	A	T	2: 92,221,611 (GRCm38)	H17L	probably damaging	Het
Ppid	T	A	3: 79,597,717 (GRCm38)	N122K	probably damaging	Het
Ppp4r3a	T	C	12: 101,043,579 (GRCm38)	I613V	probably benign	Het
Prcp	C	T	7: 92,917,766 (GRCm38)	P229S	probably benign	Het
Ralgds	T	C	2: 28,542,414 (GRCm38)	V85A	probably damaging	Het
Rgs22	G	A	15: 36,015,636 (GRCm38)	T1034I	probably benign	Het
Slc4a3	T	C	1: 75,549,979 (GRCm38)	V48A	probably damaging	Het
Snx16	A	T	3: 10,438,157 (GRCm38)	M10K	possibly damaging	Het
Svep1	G	A	4: 58,070,977 (GRCm38)	Q2270*	probably null	Het
Tmem185b	T	G	1: 119,527,463 (GRCm38)	I318S	probably benign	Het
Tnik	C	T	3: 28,620,948 (GRCm38)	R657C	probably damaging	Het
Top3b	T	C	16: 16,883,565 (GRCm38)		probably null	Het
Trim40	C	T	17: 36,882,427 (GRCm38)	R203H	probably benign	Het
Triobp	T	A	15: 78,967,540 (GRCm38)	N631K	probably benign	Het
Ubr3	T	G	2: 69,979,386 (GRCm38)	Y1233*	probably null	Het
Vgll3	A	G	16: 65,839,563 (GRCm38)	D200G	probably damaging	Het
Vmn2r24	G	A	6: 123,779,022 (GRCm38)	E18K	probably benign	Het
Zfp141	C	A	7: 42,489,488 (GRCm38)	R40L	probably damaging	Het

Other mutations in Nup205

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Nup205	APN	6	35,214,802 (GRCm38)	missense	probably damaging	1.00
IGL01086:Nup205	APN	6	35,208,936 (GRCm38)	splice site	probably benign
IGL01138:Nup205	APN	6	35,208,084 (GRCm38)	nonsense	probably null
IGL01333:Nup205	APN	6	35,241,063 (GRCm38)	missense	probably benign
IGL01399:Nup205	APN	6	35,219,689 (GRCm38)	missense	possibly damaging	0.80
IGL01466:Nup205	APN	6	35,199,959 (GRCm38)	missense	probably benign	0.08
IGL01913:Nup205	APN	6	35,227,430 (GRCm38)	missense	probably benign	0.10
IGL02159:Nup205	APN	6	35,189,178 (GRCm38)	missense	probably damaging	1.00
IGL02442:Nup205	APN	6	35,190,068 (GRCm38)	missense	probably benign	0.01
IGL02447:Nup205	APN	6	35,227,576 (GRCm38)	splice site	probably null
IGL02558:Nup205	APN	6	35,189,924 (GRCm38)	missense	probably damaging	1.00
IGL03306:Nup205	APN	6	35,208,169 (GRCm38)	missense	probably damaging	0.98
IGL03328:Nup205	APN	6	35,232,414 (GRCm38)	missense	probably damaging	0.99
Figaro	UTSW	6	35,196,714 (GRCm38)	splice site	probably null
Marcellina	UTSW	6	35,183,969 (GRCm38)	missense	probably damaging	1.00
Spirit	UTSW	6	35,232,408 (GRCm38)	missense	probably damaging	0.98
Susanna	UTSW	6	35,208,109 (GRCm38)	missense	possibly damaging	0.94
voyager	UTSW	6	35,189,885 (GRCm38)	missense	possibly damaging	0.80
BB007:Nup205	UTSW	6	35,194,576 (GRCm38)	missense	probably damaging	0.98
BB017:Nup205	UTSW	6	35,194,576 (GRCm38)	missense	probably damaging	0.98
P0012:Nup205	UTSW	6	35,196,543 (GRCm38)	missense	possibly damaging	0.90
R0102:Nup205	UTSW	6	35,225,780 (GRCm38)	splice site	probably benign
R0102:Nup205	UTSW	6	35,225,780 (GRCm38)	splice site	probably benign
R0362:Nup205	UTSW	6	35,196,714 (GRCm38)	splice site	probably null
R0374:Nup205	UTSW	6	35,208,837 (GRCm38)	missense	probably damaging	1.00
R0415:Nup205	UTSW	6	35,214,634 (GRCm38)	splice site	probably benign
R0427:Nup205	UTSW	6	35,194,463 (GRCm38)	missense	probably benign	0.01
R0543:Nup205	UTSW	6	35,198,969 (GRCm38)	missense	probably benign
R0611:Nup205	UTSW	6	35,225,968 (GRCm38)	missense	probably null	1.00
R0761:Nup205	UTSW	6	35,196,428 (GRCm38)	splice site	probably benign
R0828:Nup205	UTSW	6	35,194,566 (GRCm38)	missense	probably benign
R0906:Nup205	UTSW	6	35,236,892 (GRCm38)	missense	probably damaging	1.00
R1023:Nup205	UTSW	6	35,234,706 (GRCm38)	missense	probably damaging	0.98
R1033:Nup205	UTSW	6	35,227,442 (GRCm38)	missense	probably benign
R1375:Nup205	UTSW	6	35,200,071 (GRCm38)	splice site	probably benign
R1447:Nup205	UTSW	6	35,215,185 (GRCm38)	missense	probably benign	0.00
R1468:Nup205	UTSW	6	35,225,982 (GRCm38)	critical splice donor site	probably null
R1468:Nup205	UTSW	6	35,225,982 (GRCm38)	critical splice donor site	probably null
R1625:Nup205	UTSW	6	35,191,943 (GRCm38)	missense	probably benign	0.31
R1652:Nup205	UTSW	6	35,238,966 (GRCm38)	missense	probably benign
R1659:Nup205	UTSW	6	35,234,788 (GRCm38)	missense	probably benign	0.02
R1693:Nup205	UTSW	6	35,210,971 (GRCm38)	missense	probably benign	0.05
R1769:Nup205	UTSW	6	35,205,431 (GRCm38)	missense	probably damaging	1.00
R1839:Nup205	UTSW	6	35,219,714 (GRCm38)	missense	probably benign	0.00
R1959:Nup205	UTSW	6	35,233,366 (GRCm38)	missense	probably benign	0.16
R2051:Nup205	UTSW	6	35,230,516 (GRCm38)	missense	probably benign	0.29
R2267:Nup205	UTSW	6	35,241,349 (GRCm38)	missense	possibly damaging	0.67
R2401:Nup205	UTSW	6	35,208,134 (GRCm38)	nonsense	probably null
R3697:Nup205	UTSW	6	35,188,711 (GRCm38)	missense	probably benign	0.15
R3938:Nup205	UTSW	6	35,219,742 (GRCm38)	missense	probably damaging	1.00
R4074:Nup205	UTSW	6	35,192,040 (GRCm38)	critical splice donor site	probably null
R4117:Nup205	UTSW	6	35,241,012 (GRCm38)	nonsense	probably null
R4364:Nup205	UTSW	6	35,192,027 (GRCm38)	missense	probably benign	0.38
R4366:Nup205	UTSW	6	35,192,027 (GRCm38)	missense	probably benign	0.38
R4594:Nup205	UTSW	6	35,196,489 (GRCm38)	missense	probably benign	0.00
R4706:Nup205	UTSW	6	35,202,008 (GRCm38)	missense	probably damaging	1.00
R4787:Nup205	UTSW	6	35,202,061 (GRCm38)	missense	probably damaging	1.00
R4849:Nup205	UTSW	6	35,230,570 (GRCm38)	missense	possibly damaging	0.90
R4850:Nup205	UTSW	6	35,230,530 (GRCm38)	missense	probably benign	0.16
R4943:Nup205	UTSW	6	35,224,639 (GRCm38)	missense	probably damaging	1.00
R4966:Nup205	UTSW	6	35,243,849 (GRCm38)	missense	probably benign	0.00
R5138:Nup205	UTSW	6	35,225,866 (GRCm38)	missense	probably damaging	1.00
R5251:Nup205	UTSW	6	35,196,482 (GRCm38)	splice site	probably null
R5444:Nup205	UTSW	6	35,189,189 (GRCm38)	missense	probably damaging	0.98
R5760:Nup205	UTSW	6	35,247,343 (GRCm38)	missense	probably damaging	1.00
R5762:Nup205	UTSW	6	35,230,548 (GRCm38)	missense	probably damaging	0.96
R5762:Nup205	UTSW	6	35,227,680 (GRCm38)	missense	probably damaging	1.00
R5941:Nup205	UTSW	6	35,232,408 (GRCm38)	missense	probably damaging	0.98
R6003:Nup205	UTSW	6	35,212,816 (GRCm38)	missense	probably benign
R6178:Nup205	UTSW	6	35,243,843 (GRCm38)	missense	possibly damaging	0.85
R6315:Nup205	UTSW	6	35,236,869 (GRCm38)	missense	probably damaging	1.00
R6392:Nup205	UTSW	6	35,189,885 (GRCm38)	missense	possibly damaging	0.80
R6710:Nup205	UTSW	6	35,247,373 (GRCm38)	missense	probably benign	0.00
R6954:Nup205	UTSW	6	35,208,109 (GRCm38)	missense	possibly damaging	0.94
R7022:Nup205	UTSW	6	35,243,936 (GRCm38)	missense	probably benign	0.45
R7041:Nup205	UTSW	6	35,224,535 (GRCm38)	missense	possibly damaging	0.49
R7052:Nup205	UTSW	6	35,215,142 (GRCm38)	missense	possibly damaging	0.81
R7310:Nup205	UTSW	6	35,225,969 (GRCm38)	missense	possibly damaging	0.78
R7363:Nup205	UTSW	6	35,232,573 (GRCm38)	missense	probably benign	0.28
R7399:Nup205	UTSW	6	35,214,676 (GRCm38)	missense	probably damaging	0.99
R7428:Nup205	UTSW	6	35,227,559 (GRCm38)	missense	probably damaging	1.00
R7553:Nup205	UTSW	6	35,201,999 (GRCm38)	missense	probably damaging	1.00
R7665:Nup205	UTSW	6	35,177,620 (GRCm38)	missense	possibly damaging	0.46
R7841:Nup205	UTSW	6	35,247,437 (GRCm38)	missense	unknown
R7930:Nup205	UTSW	6	35,194,576 (GRCm38)	missense	probably damaging	0.98
R7973:Nup205	UTSW	6	35,245,339 (GRCm38)	missense	probably benign
R7976:Nup205	UTSW	6	35,198,953 (GRCm38)	missense	probably damaging	1.00
R8073:Nup205	UTSW	6	35,202,169 (GRCm38)	critical splice donor site	probably null
R8080:Nup205	UTSW	6	35,227,376 (GRCm38)	missense	probably damaging	1.00
R8118:Nup205	UTSW	6	35,230,516 (GRCm38)	missense	probably benign	0.29
R8213:Nup205	UTSW	6	35,225,203 (GRCm38)	missense	probably benign	0.26
R8237:Nup205	UTSW	6	35,227,503 (GRCm38)	missense	possibly damaging	0.89
R8408:Nup205	UTSW	6	35,225,247 (GRCm38)	missense	probably damaging	1.00
R8807:Nup205	UTSW	6	35,183,969 (GRCm38)	missense	probably damaging	1.00
R8812:Nup205	UTSW	6	35,214,334 (GRCm38)	missense	probably damaging	1.00
R9061:Nup205	UTSW	6	35,219,873 (GRCm38)	intron	probably benign
R9261:Nup205	UTSW	6	35,199,857 (GRCm38)	missense	probably benign	0.00
R9403:Nup205	UTSW	6	35,199,974 (GRCm38)	missense	probably benign	0.45
R9648:Nup205	UTSW	6	35,225,811 (GRCm38)	missense	probably benign	0.00
R9744:Nup205	UTSW	6	35,232,575 (GRCm38)	missense	probably damaging	0.99
R9800:Nup205	UTSW	6	35,186,533 (GRCm38)	missense	possibly damaging	0.85
Z1177:Nup205	UTSW	6	35,208,793 (GRCm38)	critical splice acceptor site	probably null
Z1177:Nup205	UTSW	6	35,177,605 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCACAGCTAGTCTCCGAAC -3'
(R):5'- GTTTCGAGGGCCAAACTGTC -3'

Sequencing Primer
(F):5'- GAACCGGCTGCCCTCGG -3'
(R):5'- CGCGCCATTCAAACGGAG -3'

Posted On

2018-01-31