Mutagenetix > Incidental Mutation

Incidental Mutation 'R6789:Nup153'

532945

Institutional Source

Beutler Lab

Gene Symbol

Nup153

Ensembl Gene

ENSMUSG00000021374

Gene Name

nucleoporin 153

Synonyms

B130015D15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R6789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46833381-46881416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46870792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 41 (L41H)

Ref Sequence

ENSEMBL: ENSMUSP00000021803 (fasta)

Gene Model

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

AlphaFold

E9Q3G8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021803
AA Change: L41H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: L41H

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

probably benign
Transcript: ENSMUST00000224062

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	A	1: 58,343,644 (GRCm39)	D442E	probably benign	Het
Arl6ip4	G	A	5: 124,254,665 (GRCm39)	G53R	probably damaging	Het
Asns	T	C	6: 7,675,344 (GRCm39)	T553A	probably benign	Het
Atp1a1	T	A	3: 101,493,614 (GRCm39)	N497Y	possibly damaging	Het
Birc2	T	C	9: 7,836,966 (GRCm39)		probably benign	Het
Catsperd	C	A	17: 56,961,426 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,406,210 (GRCm39)	Q2341K	possibly damaging	Het
Dydc2	C	A	14: 40,771,296 (GRCm39)	V128L	probably benign	Het
Dync2i2	A	G	2: 29,923,284 (GRCm39)		probably null	Het
Efna3	C	T	3: 89,223,769 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,143,686 (GRCm39)	E2790K	probably benign	Het
Fhip1a	A	T	3: 85,579,865 (GRCm39)	L780*	probably null	Het
Gm11569	C	A	11: 99,689,657 (GRCm39)		probably benign	Het
Gprc6a	C	T	10: 51,507,412 (GRCm39)	G39D	probably damaging	Het
Igkv6-17	A	G	6: 70,348,692 (GRCm39)	D21G	probably benign	Het
Klra4	T	C	6: 130,039,182 (GRCm39)	Q70R	probably damaging	Het
Krtap31-2	C	T	11: 99,827,549 (GRCm39)	S127F	possibly damaging	Het
Lingo4	G	T	3: 94,306,662 (GRCm39)		probably benign	Het
Lrp2bp	A	G	8: 46,466,151 (GRCm39)	K87E	possibly damaging	Het
Macf1	A	T	4: 123,266,231 (GRCm39)	M5333K	probably damaging	Het
Mmp13	A	T	9: 7,272,781 (GRCm39)	Y47F	probably benign	Het
Muc16	G	A	9: 18,471,282 (GRCm39)	P7261S	probably benign	Het
Nostrin	G	T	2: 69,005,856 (GRCm39)	M212I	probably benign	Het
Nr1h5	G	A	3: 102,865,677 (GRCm39)	T8M	possibly damaging	Het
Or10b1	T	C	10: 78,355,802 (GRCm39)	L120P	noncoding transcript	Het
Or5b97	T	A	19: 12,878,653 (GRCm39)	I164L	probably benign	Het
Pappa	A	T	4: 65,099,278 (GRCm39)	D599V	probably damaging	Het
Pcdh18	G	A	3: 49,710,364 (GRCm39)	T317I	probably benign	Het
Pcsk5	T	A	19: 17,434,150 (GRCm39)	N1406I	possibly damaging	Het
Pik3c2a	A	T	7: 115,961,419 (GRCm39)	Y1027N	probably damaging	Het
Prpf6	T	A	2: 181,257,844 (GRCm39)	Y105*	probably null	Het
Rab5a	C	T	17: 53,804,650 (GRCm39)	P87S	probably damaging	Het
Rnf8	T	A	17: 29,854,843 (GRCm39)	W433R	probably damaging	Het
Slc18b1	T	A	10: 23,692,227 (GRCm39)	V232D	probably benign	Het
Taf11	C	A	17: 28,126,492 (GRCm39)	A52S	probably benign	Het
Thoc2l	T	C	5: 104,665,555 (GRCm39)	F26L	probably benign	Het
Trav9-2	T	C	14: 53,828,819 (GRCm39)	L63P	possibly damaging	Het
Zfat	T	C	15: 67,956,235 (GRCm39)	Y1199C	probably 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
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
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'- CTACGCTTTGTAACCAAATATCCACAG -3'
(R):5'- CCAGAAGGATGAAAACATGTACTAC -3'

Sequencing Primer
(F):5'- AGGGGTGATTCTCCCATCATCAG -3'
(R):5'- ACCTACCACTAAATCTAGATCTTGG -3'

Posted On

2018-08-29