Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01938:Nup188'

180745

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 #

IGL01938

Quality Score

Status

Chromosome

Chromosomal Location

30176419-30234278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30219371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 862 (R862S)

Ref Sequence

ENSEMBL: ENSMUSP00000065836 (fasta)

Gene Model

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

AlphaFold

Q6ZQH8

Predicted Effect

probably benign
Transcript: ENSMUST00000064447
AA Change: R862S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: R862S

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	C	T	5: 88,119,567 (GRCm39)	T108I	probably damaging	Het
Adam34	A	G	8: 44,104,053 (GRCm39)	Y531H	probably damaging	Het
Arhgef10	T	A	8: 15,041,062 (GRCm39)	N1077K	probably benign	Het
BC034090	G	T	1: 155,108,338 (GRCm39)		probably null	Het
Cachd1	A	G	4: 100,831,325 (GRCm39)	I706V	possibly damaging	Het
Cebpz	A	T	17: 79,242,390 (GRCm39)	C421*	probably null	Het
Celsr3	T	C	9: 108,705,614 (GRCm39)	V699A	probably benign	Het
Col5a1	A	G	2: 27,886,885 (GRCm39)	N935S	unknown	Het
Dnah1	C	T	14: 31,005,844 (GRCm39)	V2312I	probably benign	Het
Ebf3	T	C	7: 136,911,047 (GRCm39)	T156A	probably damaging	Het
Ern1	A	G	11: 106,302,483 (GRCm39)	V457A	probably benign	Het
Flii	T	C	11: 60,605,942 (GRCm39)	Y1177C	probably damaging	Het
Fryl	T	A	5: 73,279,707 (GRCm39)	K197M	probably damaging	Het
Glb1l3	A	G	9: 26,729,825 (GRCm39)	F515S	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Kif26b	T	C	1: 178,743,603 (GRCm39)	I1233T	probably damaging	Het
Kptn	A	G	7: 15,858,714 (GRCm39)	Y286C	probably damaging	Het
Lyst	A	G	13: 13,812,009 (GRCm39)	N807S	possibly damaging	Het
Mki67	C	T	7: 135,296,059 (GRCm39)	V2992M	probably benign	Het
Myocd	A	G	11: 65,077,914 (GRCm39)	L627P	probably damaging	Het
Neto2	A	G	8: 86,417,484 (GRCm39)	I40T	probably benign	Het
Niban1	A	G	1: 151,565,365 (GRCm39)	T232A	probably benign	Het
Nipsnap1	C	T	11: 4,843,134 (GRCm39)	H269Y	probably benign	Het
Nlrp4g	G	A	9: 124,349,068 (GRCm38)		noncoding transcript	Het
Or1e16	T	A	11: 73,286,471 (GRCm39)	I126F	probably damaging	Het
Or4a80	G	T	2: 89,582,692 (GRCm39)	A160D	probably benign	Het
Or6c33	T	A	10: 129,853,981 (GRCm39)	Y250*	probably null	Het
Pde4c	A	T	8: 71,202,027 (GRCm39)	K549N	probably damaging	Het
Pkd1l3	A	G	8: 110,361,933 (GRCm39)	T992A	probably benign	Het
Pramel32	A	G	4: 88,547,600 (GRCm39)	S24P	possibly damaging	Het
Smyd2	A	G	1: 189,621,079 (GRCm39)	V213A	probably benign	Het
Sult1c2	C	T	17: 54,138,954 (GRCm39)	V208M	probably damaging	Het
Ush2a	T	C	1: 188,530,042 (GRCm39)	L3277P	probably damaging	Het
Wdr72	T	C	9: 74,056,056 (GRCm39)	V304A	probably benign	Het
Xrra1	T	C	7: 99,528,676 (GRCm39)		probably null	Het
Zscan29	C	T	2: 120,996,690 (GRCm39)	A344T	probably benign	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
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
IGL02277:Nup188	APN	2	30,216,523 (GRCm39)	missense	possibly damaging	0.95
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

2014-05-07