Mutagenetix > Incidental Mutation

Incidental Mutation 'R4480:Nup188'

331418

Institutional Source

Beutler Lab

Gene Symbol

Nup188

Ensembl Gene

ENSMUSG00000052533

Gene Name

nucleoporin 188

Synonyms

MMRRC Submission

041737-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R4480 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30176419-30234278 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 30212141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065836 (fasta)

Gene Model

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

AlphaFold

Q6ZQH8

Predicted Effect

probably benign
Transcript: ENSMUST00000064447

SMART Domains

Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

95% (40/42)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,654,663 (GRCm39)	T553A	possibly damaging	Het
Adgrb3	A	T	1: 25,150,829 (GRCm39)	F1135I	probably damaging	Het
Arfgef3	A	T	10: 18,476,348 (GRCm39)	F1490L	probably damaging	Het
Begain	A	G	12: 109,000,049 (GRCm39)	Y446H	probably damaging	Het
Cdh15	A	G	8: 123,591,415 (GRCm39)	H517R	probably benign	Het
Cemip2	A	G	19: 21,792,853 (GRCm39)	Q703R	probably benign	Het
D130040H23Rik	C	A	8: 69,755,155 (GRCm39)	H187N	possibly damaging	Het
Dip2b	C	T	15: 100,084,182 (GRCm39)	T935M	probably damaging	Het
Eif2s2	T	C	2: 154,730,190 (GRCm39)	T36A	probably benign	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxo10	T	C	4: 45,048,470 (GRCm39)	Y555C	probably damaging	Het
Fpr2	C	T	17: 18,114,015 (GRCm39)	T337I	probably benign	Het
Frem3	A	T	8: 81,337,986 (GRCm39)	Q93L	probably benign	Het
Gapdh	A	G	6: 125,140,145 (GRCm39)	V119A	possibly damaging	Het
Gm3159	T	C	14: 4,398,584 (GRCm38)	Y92H	probably damaging	Het
Hkdc1	T	C	10: 62,227,151 (GRCm39)	I769V	probably benign	Het
Ifne	T	C	4: 88,797,838 (GRCm39)	*193W	probably null	Het
Katna1	T	C	10: 7,614,594 (GRCm39)	V32A	probably damaging	Het
Nup107	T	C	10: 117,597,237 (GRCm39)	I673V	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10g1	G	A	14: 52,647,765 (GRCm39)	A188V	probably damaging	Het
Or2t48	G	T	11: 58,420,627 (GRCm39)	P62T	probably damaging	Het
Pcdhb5	T	A	18: 37,453,805 (GRCm39)	S62T	probably benign	Het
Plekha5	T	C	6: 140,472,205 (GRCm39)	V44A	probably damaging	Het
Psg18	C	T	7: 18,084,787 (GRCm39)	S103N	probably benign	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Ptprs	A	G	17: 56,733,404 (GRCm39)	V804A	possibly damaging	Het
Rab35	C	A	5: 115,775,823 (GRCm39)	S34*	probably null	Het
Slco6d1	T	A	1: 98,435,299 (GRCm39)	Y671*	probably null	Het
Sostdc1	A	G	12: 36,367,165 (GRCm39)	I114V	probably damaging	Het
Tecta	A	G	9: 42,284,529 (GRCm39)	F852S	possibly damaging	Het
Tmem179	T	C	12: 112,469,737 (GRCm39)	E21G	probably benign	Het
Usp17la	T	A	7: 104,509,897 (GRCm39)	H167Q	probably benign	Het
Vps8	A	T	16: 21,363,986 (GRCm39)		probably benign	Het
Wdr17	A	G	8: 55,117,999 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,542,969 (GRCm39)	E213G	probably benign	Het
Zfp985	A	G	4: 147,668,536 (GRCm39)	D468G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TTACCTTGTCCGCTGGGAGTAC -3'
(R):5'- TGGGAAGCAACAGTCACTGC -3'

Sequencing Primer
(F):5'- GAGTACTCTTACAGCAGCTGGAC -3'
(R):5'- AGTCACTGCTGCAAGCTC -3'

Posted On

2015-07-21