Mutagenetix > Incidental Mutation

Incidental Mutation 'R4634:Nup153'

349415

Institutional Source

Beutler Lab

Gene Symbol

Nup153

Ensembl Gene

ENSMUSG00000021374

Gene Name

nucleoporin 153

Synonyms

B130015D15Rik

MMRRC Submission

042009-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R4634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46833381-46881416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46840706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 967 (N967K)

Ref Sequence

ENSEMBL: ENSMUSP00000021803 (fasta)

Gene Model

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

AlphaFold

E9Q3G8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021803
AA Change: N967K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: N967K

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: ENSMUST00000182914

Predicted Effect

probably benign
Transcript: ENSMUST00000224203
AA Change: N287K

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0721

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (40/41)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	G	15: 74,456,278 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,443,033 (GRCm39)	T77A	probably benign	Het
Brd8	T	C	18: 34,741,537 (GRCm39)	M311V	possibly damaging	Het
Cand2	T	A	6: 115,774,948 (GRCm39)	I1052N	probably damaging	Het
Ccdc121	G	A	5: 31,645,435 (GRCm39)	R396Q	probably benign	Het
Ceacam16	T	A	7: 19,592,531 (GRCm39)	M126L	probably benign	Het
Chd3	TGCTGCCGCTGCCGC	TGCTGCCGCTGCCGCTGCCGC	11: 69,253,013 (GRCm39)		probably benign	Het
Cln8	C	T	8: 14,944,842 (GRCm39)	T52I	probably damaging	Het
Cops2	C	A	2: 125,682,400 (GRCm39)	D194Y	probably damaging	Het
Csf1	C	T	3: 107,656,483 (GRCm39)	V71M	probably damaging	Het
Dip2b	T	C	15: 100,058,372 (GRCm39)	F183S	probably damaging	Het
Ears2	T	A	7: 121,643,832 (GRCm39)	K375N	probably benign	Het
Fbn1	C	A	2: 125,185,981 (GRCm39)	G1596C	probably damaging	Het
Fscn2	A	T	11: 120,258,546 (GRCm39)	D390V	possibly damaging	Het
Gm42669	A	T	5: 107,656,079 (GRCm39)	I781F	possibly damaging	Het
Gprin1	G	T	13: 54,885,871 (GRCm39)	P801Q	probably damaging	Het
Hira	C	A	16: 18,765,150 (GRCm39)	S609R	probably damaging	Het
Htt	G	T	5: 35,033,292 (GRCm39)	K1853N	probably benign	Het
Kif2c	T	C	4: 117,035,437 (GRCm39)	I4V	probably benign	Het
Marveld2	A	G	13: 100,748,447 (GRCm39)	Y211H	probably damaging	Het
Myd88	G	A	9: 119,167,175 (GRCm39)		probably null	Het
Or4a76	A	C	2: 89,460,516 (GRCm39)	I242S	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Rabepk	A	G	2: 34,670,752 (GRCm39)	M228T	probably damaging	Het
Rcn3	T	A	7: 44,738,092 (GRCm39)	D92V	probably damaging	Het
Sec1	T	A	7: 45,328,297 (GRCm39)	Y250F	probably damaging	Het
Slc39a4	T	C	15: 76,498,693 (GRCm39)	T334A	probably benign	Het
Trip11	G	T	12: 101,803,875 (GRCm39)	T1669K	probably damaging	Het
Ttbk2	A	G	2: 120,570,673 (GRCm39)	L1091P	probably damaging	Het
Vmn1r231	A	G	17: 21,110,660 (GRCm39)	V85A	possibly damaging	Het
Zfp280b	T	C	10: 75,874,663 (GRCm39)	C181R	probably benign	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
IGL03371:Nup153	APN	13	46,836,628 (GRCm39)	missense	probably benign	0.34
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCGCTCTTGTTCTCTGAG -3'
(R):5'- CTCAAACTTTGACAAGCACTGG -3'

Sequencing Primer
(F):5'- CGCTGTGGTGTCAATAGCAGC -3'
(R):5'- GGAAATTTTAAATTTGGAGATCAGGG -3'

Posted On

2015-10-08