Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02066:Nup155'

185676

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup155

Ensembl Gene

ENSMUSG00000022142

Gene Name

nucleoporin 155

Synonyms

D930027M19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02066

Quality Score

Status

Chromosome

Chromosomal Location

8138757-8190731 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 8187250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163765] [ENSMUST00000230017]

AlphaFold

Q99P88

Predicted Effect

probably benign
Transcript: ENSMUST00000163765

SMART Domains

Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
Pfam:Nucleoporin_N	77	510	3.5e-105	PFAM
low complexity region	600	619	N/A	INTRINSIC
Pfam:Nucleoporin_C	678	1221	3.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000230017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230925

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E8.5. Mice homozygous for a gene trap allele exhibit atria fibrillation associated with shortened action potential duration. [provided by MGI curators]

Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,626,854 (GRCm39)	C569S	probably damaging	Het
Adck5	T	C	15: 76,479,406 (GRCm39)	V487A	probably damaging	Het
Agfg1	A	G	1: 82,871,279 (GRCm39)	T483A	probably damaging	Het
Akr1c12	T	C	13: 4,326,236 (GRCm39)	T82A	probably damaging	Het
Ano2	T	A	6: 125,667,702 (GRCm39)	L6Q	probably benign	Het
Anp32a	G	A	9: 62,284,615 (GRCm39)		probably benign	Het
Bltp2	G	A	11: 78,164,058 (GRCm39)	R1133H	probably damaging	Het
Cep250	C	A	2: 155,818,441 (GRCm39)	A871D	probably damaging	Het
Chl1	T	C	6: 103,675,185 (GRCm39)	V624A	probably benign	Het
Clasp1	G	A	1: 118,492,990 (GRCm39)		probably null	Het
Clca3a2	T	G	3: 144,519,216 (GRCm39)	D320A	probably benign	Het
Cnot9	A	G	1: 74,566,212 (GRCm39)	Q201R	possibly damaging	Het
Cox4i2	C	T	2: 152,602,602 (GRCm39)	R99C	probably damaging	Het
Csmd1	A	T	8: 15,976,594 (GRCm39)	F2875I	probably damaging	Het
Dpagt1	A	G	9: 44,243,203 (GRCm39)	Y246C	probably damaging	Het
Dsc1	A	G	18: 20,241,860 (GRCm39)		probably benign	Het
Eef1d	G	A	15: 75,768,704 (GRCm39)	T464I	probably benign	Het
Efna2	C	T	10: 80,024,500 (GRCm39)		probably benign	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Etaa1	C	A	11: 17,896,687 (GRCm39)	V477L	probably benign	Het
Fam83d	C	T	2: 158,627,793 (GRCm39)	T494M	probably benign	Het
Fbxo24	C	T	5: 137,611,132 (GRCm39)	V553M	probably damaging	Het
Gal3st2	A	G	1: 93,801,379 (GRCm39)	T12A	probably damaging	Het
Gba2	G	A	4: 43,570,175 (GRCm39)	T373I	probably benign	Het
Kitl	T	A	10: 99,912,744 (GRCm39)	C154S	probably damaging	Het
Lrp1b	A	T	2: 41,001,091 (GRCm39)	C2044*	probably null	Het
Lrp6	G	T	6: 134,427,900 (GRCm39)	S1564*	probably null	Het
Manea	A	T	4: 26,340,965 (GRCm39)		probably benign	Het
Myt1	T	C	2: 181,438,982 (GRCm39)	L168P	probably damaging	Het
Notch1	T	C	2: 26,350,408 (GRCm39)	E2244G	possibly damaging	Het
Nsd3	T	G	8: 26,203,515 (GRCm39)	V1343G	probably damaging	Het
Obox6	T	C	7: 15,568,628 (GRCm39)	I83V	probably benign	Het
Or12k5	A	T	2: 36,895,321 (GRCm39)	F102I	probably damaging	Het
Or13a24	A	T	7: 140,154,413 (GRCm39)	T116S	possibly damaging	Het
Pdgfra	T	C	5: 75,331,241 (GRCm39)	V282A	possibly damaging	Het
Pkd1l2	A	G	8: 117,736,303 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,268,365 (GRCm39)	I971F	possibly damaging	Het
Ppp6c	T	C	2: 39,089,683 (GRCm39)	T199A	probably benign	Het
Ptpra	A	G	2: 30,333,308 (GRCm39)	T3A	possibly damaging	Het
Rb1	A	T	14: 73,435,974 (GRCm39)	M897K	probably benign	Het
Rptn	A	C	3: 93,304,436 (GRCm39)	S590R	probably benign	Het
Rreb1	A	G	13: 38,115,482 (GRCm39)	D947G	probably benign	Het
Samd9l	T	C	6: 3,376,575 (GRCm39)	T229A	probably damaging	Het
Slc5a9	A	T	4: 111,744,719 (GRCm39)	M423K	probably damaging	Het
Slc6a12	T	A	6: 121,329,015 (GRCm39)	I111N	probably damaging	Het
Slc6a15	T	A	10: 103,252,519 (GRCm39)	L561I	probably damaging	Het
Spag5	A	G	11: 78,195,358 (GRCm39)	N222D	probably benign	Het
Spp2	G	A	1: 88,344,965 (GRCm39)	M54I	probably benign	Het
Sptbn4	T	C	7: 27,063,940 (GRCm39)	E847G	possibly damaging	Het
Timd2	T	A	11: 46,569,050 (GRCm39)	N203Y	probably damaging	Het
Togaram1	G	T	12: 65,030,195 (GRCm39)	D1000Y	probably damaging	Het
Usp47	C	T	7: 111,663,604 (GRCm39)	R258C	probably damaging	Het
Uts2r	A	C	11: 121,051,523 (GRCm39)	D129A	probably damaging	Het
Vmn2r102	G	A	17: 19,914,191 (GRCm39)	M585I	probably benign	Het
Vmn2r77	A	T	7: 86,452,836 (GRCm39)	R518*	probably null	Het
Wdfy4	C	T	14: 32,871,523 (GRCm39)	R296K	probably benign	Het
Xirp2	A	T	2: 67,356,415 (GRCm39)	K3725N	probably benign	Het
Xntrpc	T	C	7: 101,727,036 (GRCm39)	S142P	probably benign	Het
Zfat	T	C	15: 68,052,678 (GRCm39)	H372R	probably damaging	Het

Other mutations in Nup155

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Nup155	APN	15	8,150,939 (GRCm39)	splice site	probably benign
IGL00426:Nup155	APN	15	8,186,278 (GRCm39)	makesense	probably null
IGL00765:Nup155	APN	15	8,182,712 (GRCm39)	missense	probably benign	0.16
IGL00936:Nup155	APN	15	8,157,889 (GRCm39)	splice site	probably benign
IGL01124:Nup155	APN	15	8,183,163 (GRCm39)	missense	probably damaging	0.97
IGL01739:Nup155	APN	15	8,165,272 (GRCm39)	missense	probably benign	0.01
IGL02013:Nup155	APN	15	8,143,132 (GRCm39)	missense	possibly damaging	0.61
IGL02231:Nup155	APN	15	8,173,548 (GRCm39)	missense	probably damaging	1.00
IGL02246:Nup155	APN	15	8,172,486 (GRCm39)	missense	probably benign
IGL02289:Nup155	APN	15	8,160,977 (GRCm39)	missense	probably damaging	1.00
IGL02608:Nup155	APN	15	8,138,955 (GRCm39)	missense	probably benign
IGL02749:Nup155	APN	15	8,163,560 (GRCm39)	missense	probably damaging	1.00
IGL02813:Nup155	APN	15	8,159,605 (GRCm39)	splice site	probably benign
IGL03102:Nup155	APN	15	8,176,768 (GRCm39)	missense	probably benign	0.00
H8930:Nup155	UTSW	15	8,187,142 (GRCm39)	missense	possibly damaging	0.50
IGL02835:Nup155	UTSW	15	8,172,614 (GRCm39)	missense	probably damaging	1.00
R0314:Nup155	UTSW	15	8,176,736 (GRCm39)	missense	probably benign	0.00
R0365:Nup155	UTSW	15	8,161,027 (GRCm39)	missense	probably damaging	1.00
R0586:Nup155	UTSW	15	8,159,716 (GRCm39)	missense	probably benign	0.39
R0764:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R0839:Nup155	UTSW	15	8,175,071 (GRCm39)	missense	possibly damaging	0.48
R0844:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1066:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1067:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1085:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1137:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1162:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1166:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1202:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1203:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1219:Nup155	UTSW	15	8,146,822 (GRCm39)	missense	possibly damaging	0.80
R1385:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1421:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1448:Nup155	UTSW	15	8,141,890 (GRCm39)	missense	probably benign	0.44
R1611:Nup155	UTSW	15	8,159,644 (GRCm39)	missense	probably damaging	1.00
R1836:Nup155	UTSW	15	8,184,464 (GRCm39)	missense	possibly damaging	0.79
R1863:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1866:Nup155	UTSW	15	8,145,010 (GRCm39)	missense	probably damaging	1.00
R1894:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R1976:Nup155	UTSW	15	8,165,311 (GRCm39)	missense	probably benign	0.01
R2024:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R2026:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R2027:Nup155	UTSW	15	8,187,244 (GRCm39)	missense	probably damaging	1.00
R2077:Nup155	UTSW	15	8,172,510 (GRCm39)	missense	probably damaging	1.00
R2111:Nup155	UTSW	15	8,150,951 (GRCm39)	missense	probably benign	0.45
R2921:Nup155	UTSW	15	8,183,125 (GRCm39)	missense	probably damaging	1.00
R2936:Nup155	UTSW	15	8,172,533 (GRCm39)	missense	possibly damaging	0.89
R3108:Nup155	UTSW	15	8,146,790 (GRCm39)	missense	probably null	1.00
R3161:Nup155	UTSW	15	8,177,867 (GRCm39)	missense	possibly damaging	0.56
R3162:Nup155	UTSW	15	8,177,867 (GRCm39)	missense	possibly damaging	0.56
R3162:Nup155	UTSW	15	8,177,867 (GRCm39)	missense	possibly damaging	0.56
R3522:Nup155	UTSW	15	8,186,162 (GRCm39)	splice site	probably benign
R4423:Nup155	UTSW	15	8,150,948 (GRCm39)	missense	probably damaging	0.99
R4451:Nup155	UTSW	15	8,180,366 (GRCm39)	missense	probably benign	0.02
R4498:Nup155	UTSW	15	8,183,157 (GRCm39)	missense	possibly damaging	0.88
R4780:Nup155	UTSW	15	8,187,187 (GRCm39)	missense	probably benign	0.00
R4822:Nup155	UTSW	15	8,158,010 (GRCm39)	missense	possibly damaging	0.49
R5013:Nup155	UTSW	15	8,153,722 (GRCm39)	missense	probably benign	0.00
R5064:Nup155	UTSW	15	8,165,354 (GRCm39)	missense	probably damaging	1.00
R5172:Nup155	UTSW	15	8,139,026 (GRCm39)	missense	probably benign	0.06
R5406:Nup155	UTSW	15	8,183,122 (GRCm39)	critical splice acceptor site	probably null
R5551:Nup155	UTSW	15	8,177,817 (GRCm39)	missense	probably benign	0.09
R5588:Nup155	UTSW	15	8,148,737 (GRCm39)	critical splice donor site	probably null
R5977:Nup155	UTSW	15	8,159,721 (GRCm39)	critical splice donor site	probably null
R6035:Nup155	UTSW	15	8,173,577 (GRCm39)	missense	probably benign
R6035:Nup155	UTSW	15	8,173,577 (GRCm39)	missense	probably benign
R6036:Nup155	UTSW	15	8,157,895 (GRCm39)	missense	probably benign	0.16
R6036:Nup155	UTSW	15	8,157,895 (GRCm39)	missense	probably benign	0.16
R6085:Nup155	UTSW	15	8,177,842 (GRCm39)	missense	probably damaging	0.98
R6188:Nup155	UTSW	15	8,139,059 (GRCm39)	missense	probably damaging	1.00
R6232:Nup155	UTSW	15	8,138,963 (GRCm39)	missense	probably benign	0.02
R6257:Nup155	UTSW	15	8,180,282 (GRCm39)	nonsense	probably null
R6262:Nup155	UTSW	15	8,186,225 (GRCm39)	missense	probably benign	0.03
R6267:Nup155	UTSW	15	8,182,639 (GRCm39)	missense	probably damaging	1.00
R6296:Nup155	UTSW	15	8,182,639 (GRCm39)	missense	probably damaging	1.00
R6299:Nup155	UTSW	15	8,157,922 (GRCm39)	missense	possibly damaging	0.88
R6303:Nup155	UTSW	15	8,147,526 (GRCm39)	missense	probably damaging	1.00
R6304:Nup155	UTSW	15	8,147,526 (GRCm39)	missense	probably damaging	1.00
R6763:Nup155	UTSW	15	8,165,379 (GRCm39)	nonsense	probably null
R6958:Nup155	UTSW	15	8,176,638 (GRCm39)	missense	probably damaging	1.00
R7088:Nup155	UTSW	15	8,186,177 (GRCm39)	missense	probably benign	0.11
R7313:Nup155	UTSW	15	8,184,406 (GRCm39)	missense	probably damaging	0.96
R7451:Nup155	UTSW	15	8,175,091 (GRCm39)	nonsense	probably null
R7560:Nup155	UTSW	15	8,184,531 (GRCm39)	missense	probably benign	0.39
R7633:Nup155	UTSW	15	8,138,937 (GRCm39)	missense	probably damaging	0.99
R7670:Nup155	UTSW	15	8,183,180 (GRCm39)	missense	probably damaging	0.99
R7726:Nup155	UTSW	15	8,151,623 (GRCm39)	missense	probably damaging	1.00
R7752:Nup155	UTSW	15	8,145,926 (GRCm39)	missense	possibly damaging	0.53
R7889:Nup155	UTSW	15	8,150,991 (GRCm39)	missense	probably damaging	0.98
R7899:Nup155	UTSW	15	8,148,663 (GRCm39)	missense	probably damaging	1.00
R7901:Nup155	UTSW	15	8,145,926 (GRCm39)	missense	possibly damaging	0.53
R8429:Nup155	UTSW	15	8,141,904 (GRCm39)	missense	probably damaging	0.96
R8467:Nup155	UTSW	15	8,151,015 (GRCm39)	missense	probably benign	0.00
R8507:Nup155	UTSW	15	8,177,044 (GRCm39)	nonsense	probably null
R8860:Nup155	UTSW	15	8,159,640 (GRCm39)	missense	possibly damaging	0.96
R8994:Nup155	UTSW	15	8,172,645 (GRCm39)	critical splice donor site	probably null
R9046:Nup155	UTSW	15	8,157,919 (GRCm39)	frame shift	probably null
R9086:Nup155	UTSW	15	8,177,830 (GRCm39)	missense	possibly damaging	0.84
R9500:Nup155	UTSW	15	8,141,800 (GRCm39)	missense	probably damaging	1.00
RF003:Nup155	UTSW	15	8,148,660 (GRCm39)	critical splice acceptor site	probably benign
RF048:Nup155	UTSW	15	8,148,660 (GRCm39)	critical splice acceptor site	probably benign
Z1177:Nup155	UTSW	15	8,149,973 (GRCm39)	missense	probably benign	0.23

Posted On

2014-05-07