Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Nup188'

289712

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: 0.951) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

30176419-30234278 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 30213648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065836 (fasta)

Gene Model

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

AlphaFold

Q6ZQH8

Predicted Effect

probably null
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

probably null
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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	T	9: 99,502,266 (GRCm39)	T142I	probably benign	Het
Aadacl2fm2	G	A	3: 59,651,026 (GRCm39)	M49I	probably benign	Het
Acaca	A	G	11: 84,105,084 (GRCm39)	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,776,685 (GRCm39)	D397G	probably damaging	Het
Ank1	C	T	8: 23,625,654 (GRCm39)	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,557,755 (GRCm39)	T94A	possibly damaging	Het
Cd22	A	G	7: 30,575,559 (GRCm39)	I161T	probably damaging	Het
Clcn7	C	T	17: 25,365,821 (GRCm39)	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095 (GRCm39)	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,327,165 (GRCm39)		probably benign	Het
Col6a6	C	T	9: 105,661,300 (GRCm39)	V270M	probably damaging	Het
Cox8b	C	A	7: 140,478,990 (GRCm39)	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,828,704 (GRCm39)	D275V	probably benign	Het
Cubn	T	A	2: 13,432,645 (GRCm39)		probably null	Het
Dctn2	T	C	10: 127,111,690 (GRCm39)		probably benign	Het
Dnm1l	A	G	16: 16,160,604 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,164,988 (GRCm39)	E687G	probably benign	Het
Fbxw20	T	C	9: 109,052,377 (GRCm39)	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,167,550 (GRCm39)	W181*	probably null	Het
G2e3	T	A	12: 51,415,941 (GRCm39)	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,289,515 (GRCm39)	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,793,059 (GRCm39)	I572M	probably benign	Het
Gpatch2l	T	A	12: 86,303,711 (GRCm39)		probably benign	Het
Kcnq4	A	G	4: 120,573,051 (GRCm39)	L250P	probably damaging	Het
Lamc2	A	T	1: 153,041,962 (GRCm39)	N57K	probably benign	Het
Lingo1	A	G	9: 56,527,365 (GRCm39)	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,954,131 (GRCm39)	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,564,979 (GRCm39)	L545S	probably damaging	Het
Or10q1	A	G	19: 13,727,298 (GRCm39)	D276G	probably benign	Het
Or11a4	A	G	17: 37,536,217 (GRCm39)	N67S	probably damaging	Het
Or5b94	T	C	19: 12,651,602 (GRCm39)	I11T	probably damaging	Het
Pls1	A	T	9: 95,666,236 (GRCm39)	N138K	probably benign	Het
Prkch	C	A	12: 73,749,286 (GRCm39)	N345K	probably benign	Het
Reps1	T	C	10: 17,931,865 (GRCm39)		probably null	Het
Rrp7a	T	C	15: 83,006,892 (GRCm39)	E15G	probably benign	Het
Scart2	A	T	7: 139,876,453 (GRCm39)	N526Y	probably damaging	Het
Scn1a	T	A	2: 66,108,005 (GRCm39)	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,476,215 (GRCm39)	E602G	probably damaging	Het
Syvn1	T	C	19: 6,100,123 (GRCm39)		probably null	Het
Tbxas1	A	G	6: 39,000,014 (GRCm39)	D267G	probably damaging	Het
Topbp1	A	G	9: 103,205,722 (GRCm39)	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,615,051 (GRCm39)	S180R	probably damaging	Het
Zfp345	T	A	2: 150,316,463 (GRCm39)	E48D	possibly damaging	Het
Zfp608	G	A	18: 55,030,509 (GRCm39)	Q1144*	probably null	Het
Zfp936	T	A	7: 42,836,691 (GRCm39)	L34Q	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
IGL02277:Nup188	APN	2	30,216,523 (GRCm39)	missense	possibly damaging	0.95
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