Mutagenetix > Incidental Mutation

Incidental Mutation 'R9746:Nup188'

732088

Institutional Source

Beutler Lab

Gene Symbol

Nup188

Ensembl Gene

ENSMUSG00000052533

Gene Name

nucleoporin 188

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R9746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30286397-30344266 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30304288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 158 (Y158N)

Ref Sequence

ENSEMBL: ENSMUSP00000065836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064447] [ENSMUST00000113634] [ENSMUST00000138666] [ENSMUST00000148969]

AlphaFold

Q6ZQH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064447
AA Change: Y158N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: Y158N

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 benign
Transcript: ENSMUST00000113634

SMART Domains

Protein: ENSMUSP00000109264
Gene: ENSMUSG00000052533

Domain	Start	End	E-Value	Type
Pfam:Nup188	27	128	1.2e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138666

SMART Domains

Protein: ENSMUSP00000122398
Gene: ENSMUSG00000052533

Domain	Start	End	E-Value	Type
Pfam:Nup188	27	118	1.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143119

SMART Domains

Protein: ENSMUSP00000125607
Gene: ENSMUSG00000098794

Domain	Start	End	E-Value	Type
PDB:3OBZ\|A	1	31	4e-9	PDB
Pfam:Nup188	47	126	2.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148969

SMART Domains

Protein: ENSMUSP00000121742
Gene: ENSMUSG00000052533

Domain	Start	End	E-Value	Type
Pfam:Nup188	27	115	1.1e-27	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,332,031	H307L	probably benign	Het
Acnat1	A	T	4: 49,450,652	L153H	probably damaging	Het
Actn4	A	T	7: 28,919,006	D76E	probably benign	Het
Afdn	A	C	17: 13,846,520	M640L	probably benign	Het
Angpt1	A	T	15: 42,676,441	F7L	probably benign	Het
Ap3b2	A	G	7: 81,476,344	F373S	probably damaging	Het
Armc2	T	A	10: 41,924,461	Y650F	probably damaging	Het
Atg2b	G	T	12: 105,663,938	T398K	possibly damaging	Het
Baz1a	CCATT	CCATTCATT	12: 54,975,110		probably null	Het
Capn8	G	A	1: 182,611,105		probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 61,184,524		probably benign	Het
Cfap54	T	C	10: 92,801,219	N3103D	probably benign	Het
Chd9	G	A	8: 91,011,435	R1565Q	unknown	Het
Cir1	G	A	2: 73,303,808	T139I	probably damaging	Het
Cmah	T	C	13: 24,435,690		probably null	Het
Cnpy1	T	C	5: 28,245,802	D2G	probably damaging	Het
Dennd4a	A	T	9: 64,894,511	T979S	probably benign	Het
Dnah11	T	A	12: 117,878,576	K4423*	probably null	Het
Dnajb4	A	G	3: 152,186,683	I171T	possibly damaging	Het
Dpm1	A	T	2: 168,230,387		probably null	Het
Dtwd1	A	G	2: 126,154,675	T27A	probably benign	Het
Ep400	C	T	5: 110,742,006	D464N	unknown	Het
Epb42	A	T	2: 121,024,610	I498N	probably benign	Het
Fhod1	A	G	8: 105,337,416	V219A	unknown	Het
Gabrb2	A	T	11: 42,626,609	E419D	probably benign	Het
Galnt18	A	T	7: 111,471,961	N615K	possibly damaging	Het
Gm13084	T	C	4: 143,810,316	T482A	probably benign	Het
Gm29106	T	A	1: 118,199,524	H315Q	possibly damaging	Het
Gprin2	G	T	14: 34,195,658	Q52K	probably benign	Het
Grm4	A	T	17: 27,438,791	Y414N	probably damaging	Het
Gulo	C	A	14: 65,988,181		probably null	Het
H2-M1	A	C	17: 36,670,105	V313G	possibly damaging	Het
Hectd3	T	C	4: 116,995,754	W118R	probably damaging	Het
Hs6st3	G	A	14: 119,869,080	C300Y	probably damaging	Het
Il1rl2	T	A	1: 40,365,359	S547T	possibly damaging	Het
Kank1	G	T	19: 25,409,508	V182F	probably damaging	Het
Kif20b	T	A	19: 34,950,749	L1137*	probably null	Het
Klhl7	A	G	5: 24,126,820		probably null	Het
Krt13	T	A	11: 100,121,161	D112V	possibly damaging	Het
Ltbr	A	G	6: 125,313,101	V71A	probably benign	Het
Ly6g	T	C	15: 75,158,609	V92A	probably benign	Het
Map2k3	G	A	11: 60,932,103		probably benign	Het
Mast2	A	C	4: 116,311,730	D842E	probably benign	Het
Mpo	T	G	11: 87,803,523	M693R	probably benign	Het
Myo15	C	A	11: 60,487,408	S212*	probably null	Het
Nadk2	C	T	15: 9,106,736	R37*	probably null	Het
Ncapd3	G	A	9: 27,063,359	R709H	probably benign	Het
Nck2	T	A	1: 43,533,732	Y55*	probably null	Het
Neurl4	A	G	11: 69,907,475	D777G	probably damaging	Het
Npr2	G	A	4: 43,633,527	V224M	possibly damaging	Het
Nptx2	T	A	5: 144,548,140	S148T	probably benign	Het
Nr1d1	T	C	11: 98,770,334	T369A	probably benign	Het
Nub1	T	G	5: 24,703,485	F411V	probably damaging	Het
Olfr1031	A	G	2: 85,992,747	Y310C	probably benign	Het
Olfr513	A	G	7: 108,755,432	N192S	probably benign	Het
Olfr716	A	T	7: 107,147,453	I46F	probably benign	Het
Olfr804	A	T	10: 129,705,339	I154F	probably damaging	Het
Olfr897-ps1	T	A	9: 38,309,632	I279K	unknown	Het
Orc2	C	T	1: 58,497,451	G85S	probably damaging	Het
Pak1ip1	T	A	13: 41,009,267	V182D	probably damaging	Het
Parvg	T	G	15: 84,326,223	C30W	probably benign	Het
Pcdha1	T	A	18: 36,932,660	D792E	probably benign	Het
Ppp1r13b	G	T	12: 111,833,808	Q635K	probably benign	Het
Psg16	A	G	7: 17,098,161	I341V	probably benign	Het
Psme4	C	T	11: 30,876,868	Q1796*	probably null	Het
Ptn	T	G	6: 36,715,764		probably null	Het
Rapsn	C	T	2: 91,045,478	P400L	probably damaging	Het
Rasal1	G	A	5: 120,662,293	G207D	probably damaging	Het
Rdx	A	G	9: 52,063,578	I5V	probably benign	Het
Rpf1	A	G	3: 146,517,778	I105T	probably damaging	Het
Rps15a	A	T	7: 118,109,997	F79I	possibly damaging	Het
Rwdd2b	G	A	16: 87,436,753	P153L	probably benign	Het
Scaf11	G	A	15: 96,420,417	S422L	probably damaging	Het
Serpinb3b	T	A	1: 107,154,673	E287V	possibly damaging	Het
Sgta	T	C	10: 81,051,284	D49G	possibly damaging	Het
Sin3a	T	A	9: 57,118,074	M1068K	probably benign	Het
Slc12a9	G	A	5: 137,321,409	R615W	probably damaging	Het
Slc26a3	T	A	12: 31,449,146	S151T	probably benign	Het
Slc4a8	C	A	15: 100,783,840	H111N	probably damaging	Het
Syngr1	G	A	15: 80,091,458	R22K	probably benign	Het
Tars2	A	T	3: 95,754,765	V25E	probably benign	Het
Tbx15	A	G	3: 99,352,331	Y506C	probably damaging	Het
Tgm4	A	T	9: 123,046,569	K162N	possibly damaging	Het
Tmem253	A	G	14: 52,017,982	E83G	probably damaging	Het
Trp73	G	A	4: 154,081,402	T118I	probably damaging	Het
Trpm7	A	G	2: 126,822,658	S934P	possibly damaging	Het
Ttc23l	G	A	15: 10,523,643	S330L	probably benign	Het
Tub	A	C	7: 109,025,638	D199A	probably benign	Het
Uri1	A	C	7: 37,996,685		probably null	Het
Usp16	C	T	16: 87,479,232	A486V	probably benign	Het
Vmn1r12	A	G	6: 57,159,541	I208V	probably benign	Het
Vmn2r116	A	T	17: 23,401,823	M844L	probably benign	Het
Vmn2r13	C	T	5: 109,191,907		probably null	Het
Xpnpep1	T	C	19: 53,013,461	D118G	probably damaging	Het
Zfp111	G	A	7: 24,198,642	P516S	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
IGL01599:Nup188	APN	2	30327525	missense	possibly damaging	0.92
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
R9768:Nup188	UTSW	2	30337033	missense	probably damaging	0.99
T0722:Nup188	UTSW	2	30322681	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAAGAACCTGCATTCTTCGTTG -3'
(R):5'- GTATGTAACTCCACCAGGGC -3'

Sequencing Primer
(F):5'- ACACCTTCTGACATATTTCCAAGATG -3'
(R):5'- GCTCCCTGAACAAGGCATG -3'

Posted On

2022-11-14