Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03371:Nup153'

420287

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup153

Ensembl Gene

ENSMUSG00000021374

Gene Name

nucleoporin 153

Synonyms

B130015D15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

IGL03371

Quality Score

Status

Chromosome

Chromosomal Location

46833381-46881416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46836628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1327 (S1327N)

Ref Sequence

ENSEMBL: ENSMUSP00000021803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021803]

AlphaFold

E9Q3G8

Predicted Effect

probably benign
Transcript: ENSMUST00000021803
AA Change: S1327N

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: S1327N

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Pfam:Nup153	114	627	6e-236	PFAM
ZnF_RBZ	656	680	6.56e-6	SMART
ZnF_RBZ	719	743	5.89e-8	SMART
low complexity region	756	775	N/A	INTRINSIC
ZnF_RBZ	787	811	7.2e-3	SMART
low complexity region	815	830	N/A	INTRINSIC
ZnF_RBZ	844	868	1.64e-6	SMART
low complexity region	898	911	N/A	INTRINSIC
low complexity region	1078	1085	N/A	INTRINSIC
low complexity region	1183	1207	N/A	INTRINSIC
low complexity region	1248	1260	N/A	INTRINSIC
low complexity region	1271	1296	N/A	INTRINSIC
Pfam:Nup_retrotrp_bd	1372	1462	4.4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182914

Predicted Effect

probably benign
Transcript: ENSMUST00000224203

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agk	C	T	6: 40,371,576 (GRCm39)	R358C	probably benign	Het
Ahnak	G	T	19: 8,981,592 (GRCm39)	V959F	possibly damaging	Het
Aoc1	C	T	6: 48,883,380 (GRCm39)	R419C	probably benign	Het
Brf2	T	C	8: 27,615,872 (GRCm39)	D171G	probably benign	Het
Cnot1	T	C	8: 96,501,344 (GRCm39)	I75V	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,719 (GRCm39)	V1199A	probably damaging	Het
Dpp9	G	A	17: 56,494,377 (GRCm39)	H861Y	probably benign	Het
Eddm3b	G	A	14: 51,354,422 (GRCm39)	D137N	probably damaging	Het
Erich3	A	T	3: 154,433,114 (GRCm39)	I363F	probably damaging	Het
F13b	T	A	1: 139,434,674 (GRCm39)	C147S	probably damaging	Het
Fam186b	T	C	15: 99,178,258 (GRCm39)	E356G	probably benign	Het
Fat2	T	A	11: 55,201,990 (GRCm39)	R361S	probably benign	Het
Fat4	A	T	3: 39,037,336 (GRCm39)	I3663F	possibly damaging	Het
Haus3	C	A	5: 34,323,687 (GRCm39)	E308*	probably null	Het
Ifna11	A	G	4: 88,738,412 (GRCm39)	K73E	probably benign	Het
Itga10	A	G	3: 96,562,104 (GRCm39)	K664E	possibly damaging	Het
L3mbtl4	G	A	17: 68,768,563 (GRCm39)	V224M	probably damaging	Het
Mcf2l	C	A	8: 13,051,298 (GRCm39)	A378D	probably damaging	Het
Mixl1	T	C	1: 180,522,191 (GRCm39)	N230S	probably benign	Het
Ncbp1	T	A	4: 46,171,991 (GRCm39)	C786*	probably null	Het
Or4c12b	A	T	2: 89,647,509 (GRCm39)	T280S	possibly damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Osr2	C	A	15: 35,301,000 (GRCm39)	Y185*	probably null	Het
Ppp1r3b	T	C	8: 35,851,403 (GRCm39)	F81L	possibly damaging	Het
Ppp3r2	T	A	4: 49,681,630 (GRCm39)	I107F	probably damaging	Het
Rin2	G	A	2: 145,727,846 (GRCm39)		probably benign	Het
Rpap1	A	T	2: 119,605,538 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,677,137 (GRCm39)	Y466H	probably null	Het
Slc25a40	C	T	5: 8,477,442 (GRCm39)	P9L	probably benign	Het
Slc27a1	T	C	8: 72,038,052 (GRCm39)	S567P	probably benign	Het
Sox8	G	A	17: 25,786,414 (GRCm39)	R430C	probably damaging	Het
Tacc2	T	C	7: 130,227,791 (GRCm39)	V1492A	possibly damaging	Het
Taf5l	A	G	8: 124,724,725 (GRCm39)	S365P	possibly damaging	Het
Tet2	T	A	3: 133,173,312 (GRCm39)	H1650L	possibly damaging	Het
Tmem117	G	A	15: 94,909,274 (GRCm39)	R229H	probably damaging	Het
Ttc17	A	G	2: 94,216,450 (GRCm39)	L79P	probably damaging	Het
Usp54	A	T	14: 20,639,436 (GRCm39)		probably benign	Het
Zfp455	T	A	13: 67,355,066 (GRCm39)	C111*	probably null	Het
Zmym4	A	C	4: 126,808,881 (GRCm39)	C389G	possibly damaging	Het

Other mutations in Nup153

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Nup153	APN	13	46,834,626 (GRCm39)	unclassified	probably benign
IGL01312:Nup153	APN	13	46,840,300 (GRCm39)	missense	probably benign	0.03
IGL01459:Nup153	APN	13	46,866,402 (GRCm39)	missense	possibly damaging	0.84
IGL01646:Nup153	APN	13	46,837,583 (GRCm39)	missense	possibly damaging	0.80
IGL03064:Nup153	APN	13	46,847,315 (GRCm39)	missense	probably benign
IGL03288:Nup153	APN	13	46,858,681 (GRCm39)	missense	possibly damaging	0.71
IGL03369:Nup153	APN	13	46,854,459 (GRCm39)	splice site	probably null
R0193:Nup153	UTSW	13	46,863,130 (GRCm39)	missense	probably benign	0.01
R0244:Nup153	UTSW	13	46,847,412 (GRCm39)	missense	probably benign	0.03
R0448:Nup153	UTSW	13	46,870,657 (GRCm39)	missense	probably benign	0.00
R0943:Nup153	UTSW	13	46,850,248 (GRCm39)	splice site	probably benign
R1219:Nup153	UTSW	13	46,840,695 (GRCm39)	missense	probably benign	0.01
R1381:Nup153	UTSW	13	46,842,657 (GRCm39)	missense	probably damaging	1.00
R1709:Nup153	UTSW	13	46,847,450 (GRCm39)	missense	probably damaging	1.00
R1727:Nup153	UTSW	13	46,847,261 (GRCm39)	missense	probably damaging	1.00
R1818:Nup153	UTSW	13	46,835,113 (GRCm39)	missense	possibly damaging	0.94
R1824:Nup153	UTSW	13	46,867,223 (GRCm39)	missense	probably damaging	1.00
R1928:Nup153	UTSW	13	46,854,502 (GRCm39)	missense	probably damaging	0.98
R2108:Nup153	UTSW	13	46,846,986 (GRCm39)	critical splice donor site	probably null
R2110:Nup153	UTSW	13	46,837,404 (GRCm39)	missense	probably benign	0.00
R2111:Nup153	UTSW	13	46,837,404 (GRCm39)	missense	probably benign	0.00
R2173:Nup153	UTSW	13	46,855,076 (GRCm39)	splice site	probably benign
R2231:Nup153	UTSW	13	46,863,103 (GRCm39)	critical splice donor site	probably null
R3879:Nup153	UTSW	13	46,837,436 (GRCm39)	missense	probably damaging	1.00
R4634:Nup153	UTSW	13	46,840,706 (GRCm39)	missense	possibly damaging	0.49
R4662:Nup153	UTSW	13	46,840,750 (GRCm39)	missense	possibly damaging	0.68
R4932:Nup153	UTSW	13	46,866,213 (GRCm39)	nonsense	probably null
R5011:Nup153	UTSW	13	46,840,879 (GRCm39)	missense	possibly damaging	0.62
R5023:Nup153	UTSW	13	46,834,585 (GRCm39)	unclassified	probably benign
R5069:Nup153	UTSW	13	46,863,268 (GRCm39)	missense	probably benign	0.05
R5137:Nup153	UTSW	13	46,837,629 (GRCm39)	missense	probably damaging	0.99
R5323:Nup153	UTSW	13	46,870,682 (GRCm39)	missense	probably benign	0.19
R5345:Nup153	UTSW	13	46,840,341 (GRCm39)	nonsense	probably null
R5536:Nup153	UTSW	13	46,836,485 (GRCm39)	missense	probably benign	0.01
R5613:Nup153	UTSW	13	46,840,747 (GRCm39)	missense	possibly damaging	0.64
R5620:Nup153	UTSW	13	46,837,482 (GRCm39)	nonsense	probably null
R5764:Nup153	UTSW	13	46,840,803 (GRCm39)	missense	probably damaging	0.97
R5849:Nup153	UTSW	13	46,840,452 (GRCm39)	missense	probably damaging	0.99
R6454:Nup153	UTSW	13	46,863,136 (GRCm39)	splice site	probably null
R6701:Nup153	UTSW	13	46,840,541 (GRCm39)	missense	probably benign	0.00
R6721:Nup153	UTSW	13	46,854,502 (GRCm39)	missense	probably damaging	0.98
R6737:Nup153	UTSW	13	46,842,682 (GRCm39)	missense	probably benign	0.08
R6789:Nup153	UTSW	13	46,870,792 (GRCm39)	missense	probably damaging	1.00
R6820:Nup153	UTSW	13	46,863,459 (GRCm39)	missense	probably benign	0.09
R6837:Nup153	UTSW	13	46,847,527 (GRCm39)	missense	probably damaging	1.00
R6913:Nup153	UTSW	13	46,853,192 (GRCm39)	missense	probably damaging	1.00
R7052:Nup153	UTSW	13	46,840,949 (GRCm39)	missense	probably benign	0.09
R7091:Nup153	UTSW	13	46,837,404 (GRCm39)	missense	probably benign
R7357:Nup153	UTSW	13	46,870,642 (GRCm39)	missense	probably benign	0.32
R7389:Nup153	UTSW	13	46,854,463 (GRCm39)	critical splice donor site	probably null
R7423:Nup153	UTSW	13	46,850,120 (GRCm39)	critical splice donor site	probably null
R7453:Nup153	UTSW	13	46,834,657 (GRCm39)	missense	probably damaging	1.00
R7611:Nup153	UTSW	13	46,840,798 (GRCm39)	missense	probably benign	0.01
R7876:Nup153	UTSW	13	46,835,084 (GRCm39)	missense	probably benign
R7909:Nup153	UTSW	13	46,847,056 (GRCm39)	missense	probably damaging	1.00
R7938:Nup153	UTSW	13	46,842,855 (GRCm39)	splice site	probably null
R8735:Nup153	UTSW	13	46,881,027 (GRCm39)	start gained	probably benign
R8804:Nup153	UTSW	13	46,840,635 (GRCm39)	missense	probably benign	0.04
R8916:Nup153	UTSW	13	46,863,462 (GRCm39)	nonsense	probably null
R9025:Nup153	UTSW	13	46,837,709 (GRCm39)	missense	probably benign	0.36
R9217:Nup153	UTSW	13	46,835,138 (GRCm39)	missense	probably damaging	1.00
R9390:Nup153	UTSW	13	46,840,642 (GRCm39)	missense	probably damaging	1.00
R9701:Nup153	UTSW	13	46,840,211 (GRCm39)	missense	probably benign	0.01
R9714:Nup153	UTSW	13	46,866,435 (GRCm39)	missense	possibly damaging	0.55

Posted On

2016-08-02