Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Nup155'

589783

Institutional Source

Beutler Lab

Gene Symbol

Nup155

Ensembl Gene

ENSMUSG00000022142

Gene Name

nucleoporin 155

Synonyms

D930027M19Rik

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8138757-8190731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 8138937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tryptophan at position 3 (S3W)

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: S3W

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

SMART Domains

Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142
AA Change: S3W

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 damaging
Transcript: ENSMUST00000230017
AA Change: S3W

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dcxr	A	C	11: 120,617,279 (GRCm39)	L88R	probably benign	Het
Dedd	C	T	1: 171,166,478 (GRCm39)	P138L	probably benign	Het
Degs1	A	G	1: 182,107,263 (GRCm39)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,296,662 (GRCm39)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trim59	T	A	3: 68,945,259 (GRCm39)	H27L	probably damaging	Het
Trpv2	G	A	11: 62,481,832 (GRCm39)		probably null	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het
Zfp954	A	T	7: 7,118,823 (GRCm39)	F240L	possibly 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
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
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
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'- GTCCGACACTCAACTGCTTC -3'
(R):5'- TCCTATGGTGGGGAAACAGAGC -3'

Sequencing Primer
(F):5'- AGAAGCGGCGTCTTCCAGTG -3'
(R):5'- AAACAGAGCGTCCAGTGG -3'

Posted On

2019-10-24