Mutagenetix > Incidental Mutation

Incidental Mutation 'R0943:Nup153'

81977

Institutional Source

Beutler Lab

Gene Symbol

Nup153

Ensembl Gene

ENSMUSG00000021374

Gene Name

nucleoporin 153

Synonyms

B130015D15Rik

MMRRC Submission

039082-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R0943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46833381-46881416 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 46850248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

E9Q3G8

Predicted Effect

probably benign
Transcript: ENSMUST00000021803

SMART Domains

Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374

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: ENSMUST00000182358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224186

Predicted Effect

probably benign
Transcript: ENSMUST00000224203

Predicted Effect

probably benign
Transcript: ENSMUST00000225894

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (36/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	C	13: 59,648,416 (GRCm39)	N468S	probably benign	Het
Card6	A	G	15: 5,129,768 (GRCm39)	S543P	probably damaging	Het
Celsr1	T	G	15: 85,787,489 (GRCm39)	T2750P	probably damaging	Het
Csmd3	A	G	15: 47,539,135 (GRCm39)	M2341T	probably damaging	Het
Dym	A	G	18: 75,419,840 (GRCm39)	*670W	probably null	Het
Ehbp1	T	C	11: 22,045,883 (GRCm39)	D597G	probably benign	Het
Emx1	G	A	6: 85,180,901 (GRCm39)	W206*	probably null	Het
Esr1	A	G	10: 4,696,781 (GRCm39)	K210R	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fads2b	C	T	2: 85,319,109 (GRCm39)	D398N	probably damaging	Het
Fam72a	T	C	1: 131,456,517 (GRCm39)	S27P	possibly damaging	Het
Fanca	A	T	8: 124,000,925 (GRCm39)	C1152S	probably damaging	Het
Fras1	G	A	5: 96,874,402 (GRCm39)	V2276I	probably benign	Het
Hoxb13	A	G	11: 96,086,799 (GRCm39)	E202G	probably benign	Het
Lcmt1	T	G	7: 123,000,662 (GRCm39)		probably null	Het
Nars2	C	T	7: 96,605,138 (GRCm39)		probably benign	Het
Neil3	ATATTTATTTATTTATTTATTTATTTATTTATT	ATATTTATTTATTTATTTATTTATTTATTTATTTATT	8: 54,062,404 (GRCm39)		probably benign	Het
Or4c10b	T	C	2: 89,711,305 (GRCm39)	V45A	probably benign	Het
Or5b112	C	A	19: 13,319,157 (GRCm39)	H12N	probably benign	Het
Prkar2a	T	C	9: 108,610,475 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,038,902 (GRCm39)	T209A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf26rt	T	C	6: 76,473,398 (GRCm39)	H406R	probably benign	Het
Rprd2	C	T	3: 95,691,559 (GRCm39)	V239I	possibly damaging	Het
Sgo2b	A	G	8: 64,384,369 (GRCm39)	F209S	possibly damaging	Het
Shfl	A	T	9: 20,784,258 (GRCm39)	H160L	possibly damaging	Het
Spry2	T	C	14: 106,131,021 (GRCm39)	Y55C	probably damaging	Het
Tbc1d32	A	T	10: 56,037,243 (GRCm39)	V667E	probably benign	Het
Tbrg4	A	G	11: 6,569,008 (GRCm39)	F388L	probably damaging	Het
Tmt1a	T	C	15: 100,202,839 (GRCm39)	Y20H	probably benign	Het
Tshz1	T	C	18: 84,033,356 (GRCm39)	T351A	probably benign	Het
Usp48	A	G	4: 137,371,781 (GRCm39)	N969S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,397 (GRCm39)	C375*	probably null	Het
Vps45	T	A	3: 95,964,336 (GRCm39)	I62F	probably benign	Het
Xab2	A	G	8: 3,663,667 (GRCm39)	F388L	probably benign	Het
Zfp735	A	G	11: 73,602,909 (GRCm39)	T618A	probably benign	Het
Zswim2	T	A	2: 83,748,342 (GRCm39)	R279S	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTTCACTATCACAAGGGCAGC -3'
(R):5'- GGCATTGGACAGACTTTTCCCATTTG -3'

Sequencing Primer
(F):5'- CTGTTCACTTACCAGGTGTTTTCAG -3'
(R):5'- aaccaacaattcaacttcccc -3'

Posted On

2013-11-08