Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Nup153'

539194

Institutional Source

Beutler Lab

Gene Symbol

Nup153

Ensembl Gene

ENSMUSG00000021374

Gene Name

nucleoporin 153

Synonyms

B130015D15Rik

MMRRC Submission

045034-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R6913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46833381-46881416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46853192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 548 (S548R)

Ref Sequence

ENSEMBL: ENSMUSP00000021803 (fasta)

Gene Model

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

AlphaFold

E9Q3G8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021803
AA Change: S548R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: S548R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,197,494 (GRCm39)	I619N	possibly damaging	Het
Accsl	T	C	2: 93,696,488 (GRCm39)	K41E	possibly damaging	Het
Actr6	T	C	10: 89,562,558 (GRCm39)	E107G	probably damaging	Het
Adam7	T	A	14: 68,771,100 (GRCm39)	M9L	probably benign	Het
Adamts12	T	A	15: 11,215,778 (GRCm39)	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,877,017 (GRCm39)	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 123,621,650 (GRCm39)	D734G	probably benign	Het
Ap1b1	T	C	11: 4,962,972 (GRCm39)	V43A	possibly damaging	Het
Asnsd1	A	G	1: 53,387,390 (GRCm39)	V79A	probably damaging	Het
Aste1	T	A	9: 105,274,607 (GRCm39)	S221R	probably benign	Het
Ccndbp1	G	A	2: 120,840,347 (GRCm39)	E94K	probably benign	Het
Cdc34	G	A	10: 79,520,937 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,348,896 (GRCm39)	D67G	probably benign	Het
Chd8	T	C	14: 52,451,951 (GRCm39)	E1348G	probably damaging	Het
Chl1	C	T	6: 103,642,909 (GRCm39)	Q216*	probably null	Het
Cse1l	G	A	2: 166,771,797 (GRCm39)	V353I	possibly damaging	Het
Ctbp2	G	A	7: 132,616,455 (GRCm39)	S160F	possibly damaging	Het
Cyp1a1	C	A	9: 57,607,576 (GRCm39)	T68K	probably damaging	Het
Dennd11	T	C	6: 40,383,851 (GRCm39)	N397S	possibly damaging	Het
Dlgap2	T	A	8: 14,828,374 (GRCm39)	M594K	probably benign	Het
Dnah6	C	T	6: 73,189,505 (GRCm39)	E48K	probably benign	Het
Dock2	A	G	11: 34,647,049 (GRCm39)	V35A	probably damaging	Het
Edem2	A	T	2: 155,568,594 (GRCm39)	S73R	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Frem2	T	C	3: 53,424,242 (GRCm39)	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,269,090 (GRCm39)	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,876,841 (GRCm39)	I937F	possibly damaging	Het
Gfod2	C	T	8: 106,443,995 (GRCm39)	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 111,898,339 (GRCm39)		probably null	Het
Gm7145	T	G	1: 117,913,711 (GRCm39)	C198G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Eb2	G	A	17: 34,552,523 (GRCm39)	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,172,129 (GRCm39)	I7V	probably benign	Het
Itpripl2	G	T	7: 118,090,332 (GRCm39)	P76T	possibly damaging	Het
Kat6a	C	A	8: 23,393,215 (GRCm39)	A231E	possibly damaging	Het
Lipo3	C	T	19: 33,757,705 (GRCm39)	V255I	probably benign	Het
Mamstr	A	T	7: 45,292,662 (GRCm39)	M141L	probably benign	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Mei1	A	G	15: 81,973,810 (GRCm39)	N523S	probably benign	Het
Mill2	A	G	7: 18,590,351 (GRCm39)	T144A	probably null	Het
Muc16	C	A	9: 18,553,959 (GRCm39)	L4111F	unknown	Het
Mylk2	G	A	2: 152,755,610 (GRCm39)	G258E	possibly damaging	Het
Myom2	T	G	8: 15,115,710 (GRCm39)	S42A	probably benign	Het
Nab1	C	A	1: 52,503,995 (GRCm39)	G401C	possibly damaging	Het
Nifk	T	C	1: 118,260,592 (GRCm39)	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,830,357 (GRCm39)	Q224K	probably benign	Het
Nop16	T	G	13: 54,737,553 (GRCm39)	K47Q	probably damaging	Het
Or2at1	A	C	7: 99,416,924 (GRCm39)	D185A	probably damaging	Het
Or4g17	A	G	2: 111,209,347 (GRCm39)	M1V	probably null	Het
Or5b111	A	G	19: 13,290,998 (GRCm39)	I217T	probably benign	Het
Pard6g	G	A	18: 80,160,534 (GRCm39)	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,706,038 (GRCm39)	V421I	probably benign	Het
Pcif1	G	A	2: 164,726,224 (GRCm39)		probably null	Het
Pde11a	C	A	2: 76,168,084 (GRCm39)	V290F	probably damaging	Het
Pisd	T	C	5: 32,894,773 (GRCm39)	Y511C	probably damaging	Het
Polg	A	T	7: 79,110,405 (GRCm39)	D276E	probably damaging	Het
Polr3b	T	C	10: 84,549,496 (GRCm39)	V906A	probably damaging	Het
Prkcg	C	T	7: 3,362,335 (GRCm39)	P270S	probably benign	Het
Rapgef2	T	A	3: 78,993,281 (GRCm39)	I884F	probably damaging	Het
Rpl13	C	A	8: 123,830,014 (GRCm39)	N113K	possibly damaging	Het
Rxra	T	A	2: 27,631,186 (GRCm39)	I139N	probably damaging	Het
Sf3b5	T	A	10: 12,884,487 (GRCm39)	C41S	probably benign	Het
Spata31e3	G	T	13: 50,399,293 (GRCm39)	P1011H	probably damaging	Het
Stk24	C	T	14: 121,540,221 (GRCm39)	R126Q	probably damaging	Het
Taar8b	T	C	10: 23,967,963 (GRCm39)	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,468,452 (GRCm39)	C566S	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Thbs4	T	A	13: 92,894,444 (GRCm39)	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,172,126 (GRCm39)	C61*	probably null	Het
Trp63	A	G	16: 25,707,918 (GRCm39)	E636G	probably damaging	Het
Try5	T	C	6: 41,288,266 (GRCm39)	Y121C	probably damaging	Het
Ttn	G	T	2: 76,660,755 (GRCm39)		probably benign	Het
Vamp1	T	A	6: 125,195,908 (GRCm39)	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,698,537 (GRCm39)	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,924,323 (GRCm39)	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775 (GRCm39)	D71E	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
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
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'- TGGCTTTCACTGAAGGCAC -3'
(R):5'- TCAGAGACATGCCATACTGTTAATACC -3'

Sequencing Primer
(F):5'- AGGCACTTTTAAGAATAAACAGAGG -3'
(R):5'- GCTGACTTCAAACTGGGCTCAAG -3'

Posted On

2018-11-06