Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Nup205'

541363

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

045066-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35154551-35224534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35185044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 768 (V768E)

Ref Sequence

ENSEMBL: ENSMUSP00000039656 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043815
AA Change: V768E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: V768E

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

possibly damaging
Transcript: ENSMUST00000201374
AA Change: V821E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: V821E

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

Meta Mutation Damage Score

0.5851

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,429,809 (GRCm39)		probably null	Het
Alox5	A	C	6: 116,397,241 (GRCm39)	Y314*	probably null	Het
Ap4e1	T	C	2: 126,906,871 (GRCm39)	S1044P	probably benign	Het
Ash2l	A	G	8: 26,312,796 (GRCm39)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 140,647,145 (GRCm39)	T326A	probably benign	Het
Ccm2	T	A	11: 6,544,239 (GRCm39)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,896,373 (GRCm39)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,483,696 (GRCm39)	L849S	probably damaging	Het
Ctrb1	A	G	8: 112,413,296 (GRCm39)	S239P	probably damaging	Het
Dennd1b	T	A	1: 139,096,683 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,957,258 (GRCm39)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,272,817 (GRCm39)	F267L	probably damaging	Het
Fcrl2	A	G	3: 87,170,983 (GRCm39)		probably benign	Het
Furin	G	T	7: 80,046,712 (GRCm39)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,128,317 (GRCm39)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,105,300 (GRCm39)	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,380,739 (GRCm39)	I191N	probably damaging	Het
Hspa12a	T	C	19: 58,788,124 (GRCm39)	D566G	probably benign	Het
Igf1	G	C	10: 87,700,722 (GRCm39)	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm39)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,939,851 (GRCm39)	R16C	probably benign	Het
Lypd8l	T	A	11: 58,499,314 (GRCm39)	Y168F	probably benign	Het
Marf1	A	G	16: 13,956,384 (GRCm39)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,767,948 (GRCm39)	S428T	probably benign	Het
Myo1d	T	C	11: 80,565,783 (GRCm39)	I347M	probably benign	Het
Myo9b	A	G	8: 71,743,463 (GRCm39)	I175V	probably damaging	Het
Naip5	A	T	13: 100,359,922 (GRCm39)	V438E	probably damaging	Het
Or4k6	A	T	14: 50,475,567 (GRCm39)	Y258*	probably null	Het
Or9g4b	T	A	2: 85,616,726 (GRCm39)	Y290*	probably null	Het
Pcdh15	C	T	10: 74,481,821 (GRCm39)	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,334,055 (GRCm39)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,481,622 (GRCm39)	I791M	probably benign	Het
Pik3c2b	T	G	1: 132,994,041 (GRCm39)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 94,975,558 (GRCm39)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,702,054 (GRCm39)	L1294*	probably null	Het
Pprc1	T	C	19: 46,052,872 (GRCm39)	S797P	probably damaging	Het
Prob1	A	G	18: 35,787,321 (GRCm39)	V311A	probably benign	Het
Prune2	C	A	19: 16,977,385 (GRCm39)	T40K	probably damaging	Het
Rif1	T	G	2: 52,002,703 (GRCm39)	D2052E	probably benign	Het
Sall1	A	G	8: 89,759,519 (GRCm39)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,474,729 (GRCm39)		probably null	Het
Sidt2	A	T	9: 45,864,148 (GRCm39)	N123K	probably benign	Het
Slc22a6	G	A	19: 8,599,460 (GRCm39)	A320T	probably benign	Het
Slc25a10	A	G	11: 120,388,973 (GRCm39)	H279R	probably benign	Het
Slc35b4	A	G	6: 34,135,556 (GRCm39)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,823,150 (GRCm39)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,691,905 (GRCm39)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,517,782 (GRCm39)	T87I	probably benign	Het
Tcstv6	A	G	13: 120,307,666 (GRCm39)	D20G	possibly damaging	Het
Tdpoz2	A	T	3: 93,559,582 (GRCm39)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,411,921 (GRCm39)		probably null	Het
Tmppe	G	A	9: 114,234,591 (GRCm39)	V297I	probably benign	Het
Ung	G	T	5: 114,269,398 (GRCm39)	A37S	probably benign	Het
Vdac1	T	C	11: 52,277,200 (GRCm39)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,898,328 (GRCm39)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,933,437 (GRCm39)	I27T	probably benign	Het
Zfp280b	T	A	10: 75,875,522 (GRCm39)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,668,535 (GRCm39)	I329V	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
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
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'- CCTTTGGCAAAATGAAACAAGGTG -3'
(R):5'- TTGATGCGCACATGAGAGCC -3'

Sequencing Primer
(F):5'- CAAGGTGAATTAAGATTGTGTTGC -3'
(R):5'- AGAACCCAGACATCCTATTTTCTC -3'

Posted On

2018-11-28