Mutagenetix > Incidental Mutation

Incidental Mutation 'R6085:Nup155'

482446

Institutional Source

Beutler Lab

Gene Symbol

Nup155

Ensembl Gene

ENSMUSG00000022142

Gene Name

nucleoporin 155

Synonyms

D930027M19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6085 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8138757-8190731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8177842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1075 (V1075A)

Ref Sequence

ENSEMBL: ENSMUSP00000128819 (fasta)

Gene Model

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

AlphaFold

Q99P88

Predicted Effect

probably damaging
Transcript: ENSMUST00000163765
AA Change: V1075A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142
AA Change: V1075A

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

noncoding transcript
Transcript: ENSMUST00000229039

Predicted Effect

probably damaging
Transcript: ENSMUST00000230017
AA Change: V1075A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230925

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Boc	G	T	16: 44,308,970 (GRCm39)	D847E	probably damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cdk12	T	C	11: 98,134,255 (GRCm39)	I1051T	unknown	Het
Ciita	A	G	16: 10,330,029 (GRCm39)	E771G	probably benign	Het
Cul2	T	C	18: 3,431,508 (GRCm39)	F638L	probably benign	Het
Ddx21	A	G	10: 62,429,866 (GRCm39)	Y293H	probably damaging	Het
Dhx8	C	T	11: 101,655,139 (GRCm39)	R1050W	probably damaging	Het
Etv1	G	A	12: 38,904,194 (GRCm39)	D285N	probably damaging	Het
Hs3st3a1	G	A	11: 64,327,004 (GRCm39)	V38I	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Lama3	C	T	18: 12,615,156 (GRCm39)	T1360I	probably benign	Het
Mgrn1	A	G	16: 4,738,240 (GRCm39)	T265A	probably benign	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Pld4	A	G	12: 112,733,320 (GRCm39)	T299A	probably benign	Het
Prr5	T	A	15: 84,572,106 (GRCm39)	I38N	probably damaging	Het
Slc25a47	A	G	12: 108,820,254 (GRCm39)	Y86C	probably benign	Het
Spata31e5	T	C	1: 28,817,308 (GRCm39)	I241M	possibly damaging	Het
Synrg	A	T	11: 83,930,487 (GRCm39)	E1276D	possibly damaging	Het
Taar7e	T	C	10: 23,913,761 (GRCm39)	F84L	probably benign	Het
Tssk1	G	A	16: 17,712,848 (GRCm39)	C211Y	possibly damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Xpo7	A	T	14: 70,934,051 (GRCm39)	S236T	probably benign	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
IGL02066:Nup155	APN	15	8,187,250 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GAATACAAGGCACATGCGC -3'
(R):5'- AAGTCAGTGGCTCCCAAGAG -3'

Sequencing Primer
(F):5'- TGTGGCTGCAATTTCCAG -3'
(R):5'- CCAGAGCTCTAGATGATCTGATGC -3'

Posted On

2017-07-14