Mutagenetix > Incidental Mutation

Incidental Mutation 'P0027:Nup188'

8211

Institutional Source

Beutler Lab

Gene Symbol

Nup188

Ensembl Gene

ENSMUSG00000052533

Gene Name

nucleoporin 188

Synonyms

MMRRC Submission

038280-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

P0027 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

30176419-30234278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30212693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 632 (D632G)

Ref Sequence

ENSEMBL: ENSMUSP00000065836 (fasta)

Gene Model

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

AlphaFold

Q6ZQH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064447
AA Change: D632G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: D632G

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

0.1164

Coding Region Coverage

1x: 82.6%
3x: 72.9%
10x: 45.3%
20x: 23.4%

Validation Efficiency

93% (53/57)

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicd2	C	A	13: 49,533,127 (GRCm39)	P571Q	probably benign	Het
Camta2	A	G	11: 70,574,831 (GRCm39)	I75T	probably damaging	Het
Casp1	A	T	9: 5,299,851 (GRCm39)	H108L	probably benign	Het
Copa	A	G	1: 171,939,515 (GRCm39)	E593G	possibly damaging	Het
Ftsj3	C	A	11: 106,145,634 (GRCm39)	M66I	possibly damaging	Het
Kdm2a	C	T	19: 4,393,273 (GRCm39)		probably benign	Het
Klhl14	T	C	18: 21,691,192 (GRCm39)	Y446C	probably damaging	Het
Lims1	A	G	10: 58,254,277 (GRCm39)	N344D	probably benign	Het
Marco	A	T	1: 120,402,441 (GRCm39)	W502R	probably damaging	Het
Ms4a10	T	C	19: 10,941,492 (GRCm39)	D159G	probably damaging	Het
Msi2	A	T	11: 88,285,423 (GRCm39)	M207K	probably damaging	Het
Myh15	C	T	16: 48,901,571 (GRCm39)	T249I	possibly damaging	Het
Nap1l5	T	A	6: 58,883,810 (GRCm39)	N48I	probably damaging	Het
Or1n2	T	C	2: 36,797,582 (GRCm39)	V208A	probably benign	Het
Phactr4	G	C	4: 132,098,401 (GRCm39)	T252R	probably damaging	Het
Sec14l2	C	T	11: 4,053,673 (GRCm39)		probably null	Het
Sim2	C	A	16: 93,910,281 (GRCm39)	H228N	probably benign	Het
Tent4a	G	A	13: 69,655,074 (GRCm39)	R224*	probably null	Het
Tmem26	A	G	10: 68,614,548 (GRCm39)	E321G	probably benign	Het
Yif1b	T	C	7: 28,938,038 (GRCm39)		probably null	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
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
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

2012-11-20