Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02277:Nup188'

287372

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup188

Ensembl Gene

ENSMUSG00000052533

Gene Name

nucleoporin 188

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

IGL02277

Quality Score

Status

Chromosome

Chromosomal Location

30176419-30234278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30216523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 776 (T776A)

Ref Sequence

ENSEMBL: ENSMUSP00000065836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064447]

AlphaFold

Q6ZQH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064447
AA Change: T776A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: T776A

Domain	Start	End	E-Value	Type
Pfam:Nup188	31	941	9.3e-213	PFAM
low complexity region	1020	1035	N/A	INTRINSIC
low complexity region	1307	1320	N/A	INTRINSIC
low complexity region	1330	1360	N/A	INTRINSIC
low complexity region	1696	1709	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141035

Meta Mutation Damage Score

0.0704

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	T	9: 57,165,708 (GRCm39)	G222D	probably benign	Het
Abcc6	T	C	7: 45,650,485 (GRCm39)	D625G	probably benign	Het
Akr1c12	C	T	13: 4,322,268 (GRCm39)	R258Q	probably damaging	Het
Akr1c20	T	A	13: 4,564,404 (GRCm39)	E36D	probably benign	Het
Csn2	A	G	5: 87,845,881 (GRCm39)		probably benign	Het
Dennd5a	T	C	7: 109,497,176 (GRCm39)	I1084V	possibly damaging	Het
Dlg1	A	G	16: 31,609,082 (GRCm39)	I259V	probably damaging	Het
Dpysl5	A	G	5: 30,946,125 (GRCm39)	I344V	probably damaging	Het
Fcrl6	A	G	1: 172,426,686 (GRCm39)	C87R	probably damaging	Het
Fras1	A	G	5: 96,735,977 (GRCm39)	E524G	probably benign	Het
Gabpb2	A	G	3: 95,096,595 (GRCm39)	V270A	probably benign	Het
Gm5591	T	A	7: 38,218,462 (GRCm39)	I804F	possibly damaging	Het
Gm5591	T	C	7: 38,219,856 (GRCm39)	D339G	probably damaging	Het
Ighv2-5	T	A	12: 113,649,127 (GRCm39)	T109S	possibly damaging	Het
Ints4	T	A	7: 97,136,665 (GRCm39)	L119Q	probably damaging	Het
Kansl3	A	T	1: 36,388,028 (GRCm39)	D386E	possibly damaging	Het
Kdm3b	A	T	18: 34,956,717 (GRCm39)	H1224L	probably damaging	Het
Macf1	C	A	4: 123,380,497 (GRCm39)	R1523L	probably damaging	Het
Myo1f	A	G	17: 33,798,835 (GRCm39)		probably null	Het
Or1q1	G	A	2: 36,887,196 (GRCm39)		probably null	Het
Or2y8	T	A	11: 52,036,189 (GRCm39)	H56L	probably damaging	Het
Or4f56	T	A	2: 111,703,925 (GRCm39)	I92F	possibly damaging	Het
Plxnb1	T	A	9: 108,941,201 (GRCm39)	L1660Q	probably damaging	Het
Ppp1r17	A	G	6: 56,003,123 (GRCm39)	D71G	probably damaging	Het
Ptprt	T	C	2: 161,389,301 (GRCm39)	Q1264R	probably damaging	Het
Rgl3	C	T	9: 21,885,405 (GRCm39)	V642M	probably damaging	Het
Slc26a2	T	C	18: 61,332,052 (GRCm39)	T460A	probably damaging	Het
Smtnl2	T	A	11: 72,282,199 (GRCm39)	M395L	probably damaging	Het
St3gal5	A	T	6: 72,119,184 (GRCm39)	T99S	possibly damaging	Het
Unc5b	T	C	10: 60,610,521 (GRCm39)	N421S	probably benign	Het
Zcchc17	G	A	4: 130,221,014 (GRCm39)	T179M	probably benign	Het
Zfp369	T	C	13: 65,432,746 (GRCm39)	S79P	probably damaging	Het

Other mutations in Nup188

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Nup188	APN	2	30,223,412 (GRCm39)	missense	probably damaging	0.98
IGL01599:Nup188	APN	2	30,217,537 (GRCm39)	missense	possibly damaging	0.92
IGL01938:Nup188	APN	2	30,219,371 (GRCm39)	missense	probably benign
IGL01973:Nup188	APN	2	30,229,862 (GRCm39)	missense	possibly damaging	0.95
IGL02157:Nup188	APN	2	30,219,385 (GRCm39)	nonsense	probably null
IGL02221:Nup188	APN	2	30,220,653 (GRCm39)	missense	possibly damaging	0.75
IGL02335:Nup188	APN	2	30,213,648 (GRCm39)	critical splice donor site	probably null
IGL02986:Nup188	APN	2	30,197,645 (GRCm39)	splice site	probably null
IGL03029:Nup188	APN	2	30,212,592 (GRCm39)	splice site	probably benign
IGL03194:Nup188	APN	2	30,194,346 (GRCm39)	missense	possibly damaging	0.95
IGL03370:Nup188	APN	2	30,230,653 (GRCm39)	missense	possibly damaging	0.52
core	UTSW	2	30,229,906 (GRCm39)	missense	probably damaging	1.00
kern	UTSW	2	30,227,045 (GRCm39)	missense	possibly damaging	0.94
P0027:Nup188	UTSW	2	30,212,693 (GRCm39)	missense	probably damaging	0.99
R0006:Nup188	UTSW	2	30,212,035 (GRCm39)	missense	probably benign	0.27
R0360:Nup188	UTSW	2	30,216,491 (GRCm39)	missense	probably null	0.93
R0373:Nup188	UTSW	2	30,221,000 (GRCm39)	missense	probably damaging	1.00
R0645:Nup188	UTSW	2	30,233,478 (GRCm39)	splice site	probably null
R1411:Nup188	UTSW	2	30,233,807 (GRCm39)	missense	probably benign	0.01
R1670:Nup188	UTSW	2	30,230,667 (GRCm39)	missense	probably benign	0.19
R2034:Nup188	UTSW	2	30,200,097 (GRCm39)	unclassified	probably benign
R2113:Nup188	UTSW	2	30,194,113 (GRCm39)	nonsense	probably null
R2142:Nup188	UTSW	2	30,226,718 (GRCm39)	missense	possibly damaging	0.49
R2221:Nup188	UTSW	2	30,226,936 (GRCm39)	splice site	probably benign
R2567:Nup188	UTSW	2	30,231,794 (GRCm39)	missense	possibly damaging	0.53
R2964:Nup188	UTSW	2	30,215,358 (GRCm39)	missense	probably damaging	0.98
R4006:Nup188	UTSW	2	30,199,890 (GRCm39)	missense	probably damaging	0.99
R4007:Nup188	UTSW	2	30,199,890 (GRCm39)	missense	probably damaging	0.99
R4079:Nup188	UTSW	2	30,199,890 (GRCm39)	missense	probably damaging	0.99
R4480:Nup188	UTSW	2	30,212,141 (GRCm39)	intron	probably benign
R4628:Nup188	UTSW	2	30,219,358 (GRCm39)	missense	probably damaging	1.00
R4687:Nup188	UTSW	2	30,220,645 (GRCm39)	missense	probably benign	0.01
R4814:Nup188	UTSW	2	30,216,523 (GRCm39)	missense	possibly damaging	0.95
R4834:Nup188	UTSW	2	30,229,596 (GRCm39)	missense	probably damaging	1.00
R5038:Nup188	UTSW	2	30,199,232 (GRCm39)	missense	probably damaging	0.98
R5056:Nup188	UTSW	2	30,194,143 (GRCm39)	missense	probably damaging	0.98
R5124:Nup188	UTSW	2	30,220,947 (GRCm39)	missense	probably damaging	1.00
R5256:Nup188	UTSW	2	30,220,761 (GRCm39)	missense	probably damaging	1.00
R5284:Nup188	UTSW	2	30,220,647 (GRCm39)	missense	probably damaging	1.00
R5548:Nup188	UTSW	2	30,216,505 (GRCm39)	missense	probably damaging	0.99
R5560:Nup188	UTSW	2	30,199,897 (GRCm39)	missense	probably damaging	0.99
R5668:Nup188	UTSW	2	30,226,336 (GRCm39)	missense	probably damaging	1.00
R5769:Nup188	UTSW	2	30,220,747 (GRCm39)	missense	probably benign	0.34
R5773:Nup188	UTSW	2	30,212,208 (GRCm39)	missense	possibly damaging	0.92
R5774:Nup188	UTSW	2	30,191,060 (GRCm39)	missense	probably damaging	1.00
R5827:Nup188	UTSW	2	30,229,859 (GRCm39)	missense	probably damaging	1.00
R5919:Nup188	UTSW	2	30,229,906 (GRCm39)	missense	probably damaging	1.00
R5923:Nup188	UTSW	2	30,194,102 (GRCm39)	missense	probably benign
R6185:Nup188	UTSW	2	30,231,722 (GRCm39)	missense	probably damaging	0.97
R6457:Nup188	UTSW	2	30,212,199 (GRCm39)	missense	probably damaging	0.98
R6529:Nup188	UTSW	2	30,216,466 (GRCm39)	missense	possibly damaging	0.95
R7002:Nup188	UTSW	2	30,213,580 (GRCm39)	missense	probably damaging	0.99
R7195:Nup188	UTSW	2	30,231,842 (GRCm39)	critical splice donor site	probably null
R7214:Nup188	UTSW	2	30,197,566 (GRCm39)	missense	possibly damaging	0.71
R7345:Nup188	UTSW	2	30,230,613 (GRCm39)	missense	probably benign	0.09
R7853:Nup188	UTSW	2	30,213,575 (GRCm39)	missense	possibly damaging	0.95
R7998:Nup188	UTSW	2	30,220,983 (GRCm39)	missense	probably damaging	1.00
R8012:Nup188	UTSW	2	30,227,277 (GRCm39)	missense	possibly damaging	0.95
R8080:Nup188	UTSW	2	30,227,045 (GRCm39)	missense	possibly damaging	0.94
R8804:Nup188	UTSW	2	30,220,891 (GRCm39)	missense	probably benign
R8850:Nup188	UTSW	2	30,217,576 (GRCm39)	missense	probably damaging	0.99
R9110:Nup188	UTSW	2	30,222,461 (GRCm39)	missense	possibly damaging	0.94
R9157:Nup188	UTSW	2	30,188,456 (GRCm39)	missense	probably benign	0.02
R9209:Nup188	UTSW	2	30,232,397 (GRCm39)	missense	probably benign	0.02
R9287:Nup188	UTSW	2	30,226,726 (GRCm39)	missense	probably damaging	0.99
R9325:Nup188	UTSW	2	30,212,271 (GRCm39)	missense	probably damaging	0.99
R9390:Nup188	UTSW	2	30,220,777 (GRCm39)	critical splice donor site	probably null
R9607:Nup188	UTSW	2	30,197,724 (GRCm39)	missense	probably benign	0.01
R9746:Nup188	UTSW	2	30,194,300 (GRCm39)	missense	probably damaging	0.99
R9768:Nup188	UTSW	2	30,227,045 (GRCm39)	missense	probably damaging	0.99
T0722:Nup188	UTSW	2	30,212,693 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16