Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03328:Nup205'

416738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

Accession Numbers

NCBI RefSeq: NM_027513.1; MGI:2141625

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL03328

Quality Score

Status

Chromosome

Chromosomal Location

35177421-35247596 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35232414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1552 (L1552P)

Ref Sequence

ENSEMBL: ENSMUSP00000144126 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043815
AA Change: L1499P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: L1499P

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 damaging
Transcript: ENSMUST00000201374
AA Change: L1552P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: L1552P

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

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	A	T	2: 23,212,805	Y185F	possibly damaging	Het
Acaca	A	T	11: 84,320,529	M1556L	probably benign	Het
Aicda	T	G	6: 122,562,437	D187E	probably benign	Het
Arfgap3	A	C	15: 83,343,081	F43L	probably damaging	Het
AW551984	T	C	9: 39,597,116	E368G	probably damaging	Het
Bbs4	T	C	9: 59,344,118	E33G	probably damaging	Het
Bcas1	T	A	2: 170,366,396	K437*	probably null	Het
Brwd1	A	T	16: 96,002,725	W2082R	probably damaging	Het
Card6	A	T	15: 5,105,445		probably benign	Het
Cd200r4	A	G	16: 44,833,519	I226M	possibly damaging	Het
Cep57l1	T	C	10: 41,743,152	E73G	probably damaging	Het
Chaf1a	T	G	17: 56,063,374	F613C	probably damaging	Het
Clybl	G	T	14: 122,401,994	K323N	probably damaging	Het
Coa7	A	G	4: 108,338,282	D136G	probably damaging	Het
Col5a2	C	A	1: 45,376,146	V1478L	possibly damaging	Het
Ctnnd2	T	C	15: 30,921,847		probably benign	Het
Cyp4f17	T	G	17: 32,520,626	M174R	probably damaging	Het
Dnah10	A	T	5: 124,754,290	D794V	probably benign	Het
Eapp	A	G	12: 54,692,093	S87P	probably benign	Het
Efnb3	A	G	11: 69,557,205	I137T	probably damaging	Het
Eif4e	T	A	3: 138,553,727		probably benign	Het
Fam83b	T	A	9: 76,493,042	I260L	probably benign	Het
Fras1	A	G	5: 96,781,760	T4008A	probably damaging	Het
Fut8	A	T	12: 77,365,229	R118W	probably damaging	Het
Glt1d1	A	C	5: 127,657,119	D119A	probably benign	Het
Gm3727	T	A	14: 7,261,685	*206C	probably null	Het
Gmip	G	A	8: 69,811,611	V174M	possibly damaging	Het
Gtf2ird1	A	G	5: 134,389,129		probably null	Het
Haao	C	T	17: 83,846,649	C23Y	probably damaging	Het
Hip1	A	T	5: 135,424,874	V400E	probably damaging	Het
Keg1	A	G	19: 12,719,097	N215S	probably damaging	Het
Lss	T	G	10: 76,540,951	I334S	probably damaging	Het
Lyn	A	C	4: 3,745,327	E77D	probably benign	Het
Myo3a	A	G	2: 22,578,198	E1426G	probably benign	Het
Ncapg2	A	G	12: 116,440,057	E863G	possibly damaging	Het
Ncl	T	C	1: 86,352,597	Y496C	probably damaging	Het
Nefm	A	T	14: 68,121,290	S432T	probably benign	Het
Nipsnap1	A	G	11: 4,884,096	Y95C	possibly damaging	Het
Npc1l1	C	A	11: 6,218,643	E913*	probably null	Het
Olfr1217	G	T	2: 89,023,855	Y49*	probably null	Het
Olfr1356	C	T	10: 78,847,367	E183K	probably benign	Het
Olfr325	A	G	11: 58,581,713	N290D	probably damaging	Het
Olfr652	T	A	7: 104,564,470	V83D	probably damaging	Het
Osm	A	C	11: 4,238,426	I18L	unknown	Het
Otoa	T	A	7: 121,110,994	S254R	probably damaging	Het
Parp1	T	C	1: 180,599,590		probably benign	Het
Pcdh17	A	G	14: 84,533,111	I1010V	probably benign	Het
Peli2	A	T	14: 48,252,575		probably null	Het
Pkd1l3	T	G	8: 109,662,106		probably benign	Het
Pkhd1	A	G	1: 20,081,300		probably benign	Het
Polg2	A	C	11: 106,768,337	V450G	probably benign	Het
Ptpn13	A	T	5: 103,516,348	T401S	probably benign	Het
Rgs22	C	T	15: 36,043,204		probably null	Het
Rttn	T	G	18: 89,043,028	S1107A	probably benign	Het
Scn5a	G	T	9: 119,537,636	N328K	probably benign	Het
Sned1	G	A	1: 93,289,367	A1325T	probably benign	Het
St8sia4	T	A	1: 95,660,870	E80V	probably benign	Het
Stard7	T	C	2: 127,292,256		probably benign	Het
Suco	G	T	1: 161,820,421	P1099T	probably damaging	Het
Syn2	G	T	6: 115,274,260	C459F	probably damaging	Het
Tas2r117	A	C	6: 132,803,078	I60L	probably benign	Het
Tcrg-C4	A	G	13: 19,352,246	Y158C	unknown	Het
Tomm70a	T	C	16: 57,144,787	C445R	probably damaging	Het
Tpsab1	T	A	17: 25,345,128	D87V	probably benign	Het
Trpm6	A	T	19: 18,838,082	E1177D	possibly damaging	Het
Vmn2r71	A	T	7: 85,624,291	D771V	probably damaging	Het
Vmn2r93	A	T	17: 18,304,958	T293S	probably damaging	Het

Other mutations in Nup205

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Nup205	APN	6	35214802	missense	probably damaging	1.00
IGL01086:Nup205	APN	6	35208936	splice site	probably benign
IGL01138:Nup205	APN	6	35208084	nonsense	probably null
IGL01333:Nup205	APN	6	35241063	missense	probably benign
IGL01399:Nup205	APN	6	35219689	missense	possibly damaging	0.80
IGL01466:Nup205	APN	6	35199959	missense	probably benign	0.08
IGL01913:Nup205	APN	6	35227430	missense	probably benign	0.10
IGL02159:Nup205	APN	6	35189178	missense	probably damaging	1.00
IGL02442:Nup205	APN	6	35190068	missense	probably benign	0.01
IGL02447:Nup205	APN	6	35227576	splice site	probably null
IGL02558:Nup205	APN	6	35189924	missense	probably damaging	1.00
IGL03306:Nup205	APN	6	35208169	missense	probably damaging	0.98
Figaro	UTSW	6	35196714	splice site	probably null
Marcellina	UTSW	6	35183969	missense	probably damaging	1.00
Spirit	UTSW	6	35232408	missense	probably damaging	0.98
Susanna	UTSW	6	35208109	missense	possibly damaging	0.94
voyager	UTSW	6	35189885	missense	possibly damaging	0.80
BB007:Nup205	UTSW	6	35194576	missense	probably damaging	0.98
BB017:Nup205	UTSW	6	35194576	missense	probably damaging	0.98
P0012:Nup205	UTSW	6	35196543	missense	possibly damaging	0.90
R0102:Nup205	UTSW	6	35225780	splice site	probably benign
R0102:Nup205	UTSW	6	35225780	splice site	probably benign
R0362:Nup205	UTSW	6	35196714	splice site	probably null
R0374:Nup205	UTSW	6	35208837	missense	probably damaging	1.00
R0415:Nup205	UTSW	6	35214634	splice site	probably benign
R0427:Nup205	UTSW	6	35194463	missense	probably benign	0.01
R0543:Nup205	UTSW	6	35198969	missense	probably benign
R0611:Nup205	UTSW	6	35225968	missense	probably null	1.00
R0761:Nup205	UTSW	6	35196428	splice site	probably benign
R0828:Nup205	UTSW	6	35194566	missense	probably benign
R0906:Nup205	UTSW	6	35236892	missense	probably damaging	1.00
R1023:Nup205	UTSW	6	35234706	missense	probably damaging	0.98
R1033:Nup205	UTSW	6	35227442	missense	probably benign
R1375:Nup205	UTSW	6	35200071	splice site	probably benign
R1447:Nup205	UTSW	6	35215185	missense	probably benign	0.00
R1468:Nup205	UTSW	6	35225982	critical splice donor site	probably null
R1468:Nup205	UTSW	6	35225982	critical splice donor site	probably null
R1625:Nup205	UTSW	6	35191943	missense	probably benign	0.31
R1652:Nup205	UTSW	6	35238966	missense	probably benign
R1659:Nup205	UTSW	6	35234788	missense	probably benign	0.02
R1693:Nup205	UTSW	6	35210971	missense	probably benign	0.05
R1769:Nup205	UTSW	6	35205431	missense	probably damaging	1.00
R1839:Nup205	UTSW	6	35219714	missense	probably benign	0.00
R1959:Nup205	UTSW	6	35233366	missense	probably benign	0.16
R2051:Nup205	UTSW	6	35230516	missense	probably benign	0.29
R2267:Nup205	UTSW	6	35241349	missense	possibly damaging	0.67
R2401:Nup205	UTSW	6	35208134	nonsense	probably null
R3697:Nup205	UTSW	6	35188711	missense	probably benign	0.15
R3938:Nup205	UTSW	6	35219742	missense	probably damaging	1.00
R4074:Nup205	UTSW	6	35192040	critical splice donor site	probably null
R4117:Nup205	UTSW	6	35241012	nonsense	probably null
R4364:Nup205	UTSW	6	35192027	missense	probably benign	0.38
R4366:Nup205	UTSW	6	35192027	missense	probably benign	0.38
R4594:Nup205	UTSW	6	35196489	missense	probably benign	0.00
R4706:Nup205	UTSW	6	35202008	missense	probably damaging	1.00
R4787:Nup205	UTSW	6	35202061	missense	probably damaging	1.00
R4849:Nup205	UTSW	6	35230570	missense	possibly damaging	0.90
R4850:Nup205	UTSW	6	35230530	missense	probably benign	0.16
R4943:Nup205	UTSW	6	35224639	missense	probably damaging	1.00
R4966:Nup205	UTSW	6	35243849	missense	probably benign	0.00
R5138:Nup205	UTSW	6	35225866	missense	probably damaging	1.00
R5251:Nup205	UTSW	6	35196482	splice site	probably null
R5444:Nup205	UTSW	6	35189189	missense	probably damaging	0.98
R5760:Nup205	UTSW	6	35247343	missense	probably damaging	1.00
R5762:Nup205	UTSW	6	35227680	missense	probably damaging	1.00
R5762:Nup205	UTSW	6	35230548	missense	probably damaging	0.96
R5941:Nup205	UTSW	6	35232408	missense	probably damaging	0.98
R5969:Nup205	UTSW	6	35177578	unclassified	probably benign
R6003:Nup205	UTSW	6	35212816	missense	probably benign
R6178:Nup205	UTSW	6	35243843	missense	possibly damaging	0.85
R6315:Nup205	UTSW	6	35236869	missense	probably damaging	1.00
R6392:Nup205	UTSW	6	35189885	missense	possibly damaging	0.80
R6710:Nup205	UTSW	6	35247373	missense	probably benign	0.00
R6954:Nup205	UTSW	6	35208109	missense	possibly damaging	0.94
R7022:Nup205	UTSW	6	35243936	missense	probably benign	0.45
R7041:Nup205	UTSW	6	35224535	missense	possibly damaging	0.49
R7052:Nup205	UTSW	6	35215142	missense	possibly damaging	0.81
R7310:Nup205	UTSW	6	35225969	missense	possibly damaging	0.78
R7363:Nup205	UTSW	6	35232573	missense	probably benign	0.28
R7399:Nup205	UTSW	6	35214676	missense	probably damaging	0.99
R7428:Nup205	UTSW	6	35227559	missense	probably damaging	1.00
R7553:Nup205	UTSW	6	35201999	missense	probably damaging	1.00
R7665:Nup205	UTSW	6	35177620	missense	possibly damaging	0.46
R7841:Nup205	UTSW	6	35247437	missense	unknown
R7930:Nup205	UTSW	6	35194576	missense	probably damaging	0.98
R7973:Nup205	UTSW	6	35245339	missense	probably benign
R7976:Nup205	UTSW	6	35198953	missense	probably damaging	1.00
R8073:Nup205	UTSW	6	35202169	critical splice donor site	probably null
R8080:Nup205	UTSW	6	35227376	missense	probably damaging	1.00
R8118:Nup205	UTSW	6	35230516	missense	probably benign	0.29
R8213:Nup205	UTSW	6	35225203	missense	probably benign	0.26
R8237:Nup205	UTSW	6	35227503	missense	possibly damaging	0.89
R8408:Nup205	UTSW	6	35225247	missense	probably damaging	1.00
R8807:Nup205	UTSW	6	35183969	missense	probably damaging	1.00
R8812:Nup205	UTSW	6	35214334	missense	probably damaging	1.00
R9261:Nup205	UTSW	6	35199857	missense	probably benign	0.00
R9403:Nup205	UTSW	6	35199974	missense	probably benign	0.45
Z1177:Nup205	UTSW	6	35177605	missense	unknown
Z1177:Nup205	UTSW	6	35208793	critical splice acceptor site	probably null

Posted On

2016-08-02