Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Nup188'

92041

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: 0.950) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

30286397-30344266 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30327525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 824 (V824A)

Ref Sequence

ENSEMBL: ENSMUSP00000065836 (fasta)

Gene Model

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

AlphaFold

Q6ZQH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064447
AA Change: V824A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: V824A

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly damaging	Het

Other mutations in Nup188

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Nup188	APN	2	30333400	missense	probably damaging	0.98
IGL01938:Nup188	APN	2	30329359	missense	probably benign
IGL01973:Nup188	APN	2	30339850	missense	possibly damaging	0.95
IGL02157:Nup188	APN	2	30329373	nonsense	probably null
IGL02221:Nup188	APN	2	30330641	missense	possibly damaging	0.75
IGL02277:Nup188	APN	2	30326511	missense	possibly damaging	0.95
IGL02335:Nup188	APN	2	30323636	critical splice donor site	probably null
IGL02986:Nup188	APN	2	30307633	splice site	probably null
IGL03029:Nup188	APN	2	30322580	splice site	probably benign
IGL03194:Nup188	APN	2	30304334	missense	possibly damaging	0.95
IGL03370:Nup188	APN	2	30340641	missense	possibly damaging	0.52
core	UTSW	2	30339894	missense	probably damaging	1.00
kern	UTSW	2	30337033	missense	possibly damaging	0.94
P0027:Nup188	UTSW	2	30322681	missense	probably damaging	0.99
R0006:Nup188	UTSW	2	30322023	missense	probably benign	0.27
R0360:Nup188	UTSW	2	30326479	missense	probably null	0.93
R0373:Nup188	UTSW	2	30330988	missense	probably damaging	1.00
R0645:Nup188	UTSW	2	30343466	splice site	probably null
R1411:Nup188	UTSW	2	30343795	missense	probably benign	0.01
R1670:Nup188	UTSW	2	30340655	missense	probably benign	0.19
R2034:Nup188	UTSW	2	30310085	unclassified	probably benign
R2113:Nup188	UTSW	2	30304101	nonsense	probably null
R2142:Nup188	UTSW	2	30336706	missense	possibly damaging	0.49
R2221:Nup188	UTSW	2	30336924	splice site	probably benign
R2567:Nup188	UTSW	2	30341782	missense	possibly damaging	0.53
R2964:Nup188	UTSW	2	30325346	missense	probably damaging	0.98
R4006:Nup188	UTSW	2	30309878	missense	probably damaging	0.99
R4007:Nup188	UTSW	2	30309878	missense	probably damaging	0.99
R4079:Nup188	UTSW	2	30309878	missense	probably damaging	0.99
R4480:Nup188	UTSW	2	30322129	intron	probably benign
R4628:Nup188	UTSW	2	30329346	missense	probably damaging	1.00
R4687:Nup188	UTSW	2	30330633	missense	probably benign	0.01
R4814:Nup188	UTSW	2	30326511	missense	possibly damaging	0.95
R4834:Nup188	UTSW	2	30339584	missense	probably damaging	1.00
R5038:Nup188	UTSW	2	30309220	missense	probably damaging	0.98
R5056:Nup188	UTSW	2	30304131	missense	probably damaging	0.98
R5124:Nup188	UTSW	2	30330935	missense	probably damaging	1.00
R5256:Nup188	UTSW	2	30330749	missense	probably damaging	1.00
R5284:Nup188	UTSW	2	30330635	missense	probably damaging	1.00
R5548:Nup188	UTSW	2	30326493	missense	probably damaging	0.99
R5560:Nup188	UTSW	2	30309885	missense	probably damaging	0.99
R5668:Nup188	UTSW	2	30336324	missense	probably damaging	1.00
R5769:Nup188	UTSW	2	30330735	missense	probably benign	0.34
R5773:Nup188	UTSW	2	30322196	missense	possibly damaging	0.92
R5774:Nup188	UTSW	2	30301048	missense	probably damaging	1.00
R5827:Nup188	UTSW	2	30339847	missense	probably damaging	1.00
R5919:Nup188	UTSW	2	30339894	missense	probably damaging	1.00
R5923:Nup188	UTSW	2	30304090	missense	probably benign
R6185:Nup188	UTSW	2	30341710	missense	probably damaging	0.97
R6457:Nup188	UTSW	2	30322187	missense	probably damaging	0.98
R6529:Nup188	UTSW	2	30326454	missense	possibly damaging	0.95
R7002:Nup188	UTSW	2	30323568	missense	probably damaging	0.99
R7195:Nup188	UTSW	2	30341830	critical splice donor site	probably null
R7214:Nup188	UTSW	2	30307554	missense	possibly damaging	0.71
R7345:Nup188	UTSW	2	30340601	missense	probably benign	0.09
R7853:Nup188	UTSW	2	30323563	missense	possibly damaging	0.95
R7998:Nup188	UTSW	2	30330971	missense	probably damaging	1.00
R8012:Nup188	UTSW	2	30337265	missense	possibly damaging	0.95
R8080:Nup188	UTSW	2	30337033	missense	possibly damaging	0.94
R8804:Nup188	UTSW	2	30330879	missense	probably benign
R8850:Nup188	UTSW	2	30327564	missense	probably damaging	0.99
R9110:Nup188	UTSW	2	30332449	missense	possibly damaging	0.94
R9157:Nup188	UTSW	2	30298444	missense	probably benign	0.02
R9209:Nup188	UTSW	2	30342385	missense	probably benign	0.02
R9287:Nup188	UTSW	2	30336714	missense	probably damaging	0.99
R9325:Nup188	UTSW	2	30322259	missense	probably damaging	0.99
R9390:Nup188	UTSW	2	30330765	critical splice donor site	probably null
R9607:Nup188	UTSW	2	30307712	missense	probably benign	0.01
R9746:Nup188	UTSW	2	30304288	missense	probably damaging	0.99
R9768:Nup188	UTSW	2	30337033	missense	probably damaging	0.99
T0722:Nup188	UTSW	2	30322681	missense	probably damaging	0.99

Posted On

2013-12-09