Mutagenetix > Incidental Mutation

Incidental Mutation 'R7453:Nup153'

577928

Institutional Source

Beutler Lab

Gene Symbol

Nup153

Ensembl Gene

ENSMUSG00000021374

Gene Name

nucleoporin 153

Synonyms

B130015D15Rik

MMRRC Submission

045527-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R7453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46833381-46881416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46834657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1456 (T1456A)

Ref Sequence

ENSEMBL: ENSMUSP00000021803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021803] [ENSMUST00000099547]

AlphaFold

E9Q3G8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021803
AA Change: T1456A

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

SMART Domains

Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: T1456A

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: ENSMUST00000099547

SMART Domains

Protein: ENSMUSP00000097144
Gene: ENSMUSG00000069237

Domain	Start	End	E-Value	Type
low complexity region	31	56	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	168	190	N/A	INTRINSIC
Pfam:RDD	229	389	2.9e-13	PFAM

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (122/122)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,309 (GRCm39)	S32P	possibly damaging	Het
Acaca	T	C	11: 84,136,136 (GRCm39)	V497A	probably benign	Het
Acox1	T	C	11: 116,071,787 (GRCm39)	T214A	probably benign	Het
Adgrb2	G	A	4: 129,908,430 (GRCm39)		probably null	Het
Adh1	G	A	3: 137,995,702 (GRCm39)		probably null	Het
Angptl1	G	T	1: 156,672,421 (GRCm39)	M82I	probably benign	Het
Arg1	A	G	10: 24,791,674 (GRCm39)	L269P	probably damaging	Het
Arid2	T	G	15: 96,268,605 (GRCm39)	V906G	probably benign	Het
Arid5b	A	T	10: 68,078,994 (GRCm39)	H114Q	probably benign	Het
Atad5	T	C	11: 80,009,969 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,729,493 (GRCm39)		probably null	Het
B230104I21Rik	A	T	4: 154,432,185 (GRCm39)	T44S	unknown	Het
BC024063	G	A	10: 81,945,991 (GRCm39)	R537H	possibly damaging	Het
Bfsp2	A	T	9: 103,330,306 (GRCm39)	L177Q	probably damaging	Het
Birc5	C	A	11: 117,743,507 (GRCm39)	H80Q	probably damaging	Het
Bpifb9a	T	C	2: 154,106,615 (GRCm39)	L382P	probably damaging	Het
Ces2c	A	T	8: 105,576,302 (GRCm39)	N105I	probably benign	Het
Cfap91	A	G	16: 38,141,841 (GRCm39)	S364P	possibly damaging	Het
Cflar	G	A	1: 58,792,956 (GRCm39)	V441M		Het
Ckap4	A	G	10: 84,364,463 (GRCm39)	V200A	probably damaging	Het
Clec16a	C	A	16: 10,462,686 (GRCm39)	T668N	probably damaging	Het
Cntrl	A	C	2: 35,045,421 (GRCm39)	E1376D	possibly damaging	Het
Col18a1	A	T	10: 76,921,044 (GRCm39)		probably null	Het
Coq2	T	C	5: 100,811,452 (GRCm39)	Y179C	probably benign	Het
Cpne6	A	G	14: 55,749,473 (GRCm39)	E11G	probably benign	Het
Cr2	A	C	1: 194,847,565 (GRCm39)		probably null	Het
Csf2rb2	C	T	15: 78,169,491 (GRCm39)	D555N	probably benign	Het
Cyp2j12	A	T	4: 95,990,363 (GRCm39)	V401D	possibly damaging	Het
Dbp	C	T	7: 45,355,127 (GRCm39)	A27V	probably benign	Het
Dll1	C	A	17: 15,595,151 (GRCm39)	R42L	probably benign	Het
Dst	C	A	1: 34,230,439 (GRCm39)	H2677Q	possibly damaging	Het
Efl1	G	T	7: 82,330,675 (GRCm39)	V283F	possibly damaging	Het
Enah	C	T	1: 181,789,470 (GRCm39)	C7Y	unknown	Het
Fam193a	A	T	5: 34,621,460 (GRCm39)	E1139V	possibly damaging	Het
Fbn1	G	A	2: 125,162,879 (GRCm39)	P2136S	possibly damaging	Het
Fggy	T	C	4: 95,485,927 (GRCm39)	V91A	probably damaging	Het
Fn1	T	A	1: 71,630,039 (GRCm39)	D2343V	probably damaging	Het
Galk2	T	C	2: 125,729,781 (GRCm39)	V54A	possibly damaging	Het
Glb1l	T	A	1: 75,179,350 (GRCm39)	Y193F	probably damaging	Het
Gm45861	G	T	8: 28,031,686 (GRCm39)	R867L	unknown	Het
Grin2b	T	C	6: 135,717,947 (GRCm39)	D715G	possibly damaging	Het
Hltf	A	T	3: 20,136,916 (GRCm39)	R384S	possibly damaging	Het
Hs3st1	A	G	5: 39,772,310 (GRCm39)	M111T	probably damaging	Het
Idua	A	G	5: 108,829,362 (GRCm39)	T388A	probably benign	Het
Kat14	T	C	2: 144,222,654 (GRCm39)	S136P	possibly damaging	Het
Kif24	A	C	4: 41,394,673 (GRCm39)	C867W	possibly damaging	Het
Klhdc10	T	A	6: 30,447,989 (GRCm39)		probably null	Het
Klra10	A	G	6: 130,257,327 (GRCm39)	V59A	probably damaging	Het
Limk1	T	A	5: 134,698,091 (GRCm39)	I223F	probably damaging	Het
Lrp10	G	A	14: 54,705,913 (GRCm39)	G368S	probably damaging	Het
Lrrc7	T	C	3: 157,891,046 (GRCm39)	R374G	probably benign	Het
Lypd1	T	A	1: 125,801,303 (GRCm39)	M66L	probably benign	Het
Mast4	C	T	13: 102,941,149 (GRCm39)		probably null	Het
Mbp	C	T	18: 82,572,768 (GRCm39)	H155Y	probably damaging	Het
Micu3	G	A	8: 40,788,939 (GRCm39)	C150Y	probably benign	Het
Mras	C	T	9: 99,271,793 (GRCm39)	V174I	probably benign	Het
Mroh1	T	A	15: 76,317,745 (GRCm39)	I827N	probably damaging	Het
Ms4a12	C	A	19: 11,203,026 (GRCm39)	G101*	probably null	Het
Mylk2	A	T	2: 152,754,353 (GRCm39)	K149M	probably damaging	Het
Myom3	T	A	4: 135,528,346 (GRCm39)	L1064I	probably damaging	Het
Naa30	A	G	14: 49,425,144 (GRCm39)	*365W	probably null	Het
Ncoa1	C	T	12: 4,309,307 (GRCm39)	G1330R	probably damaging	Het
Nhlh1	T	A	1: 171,881,846 (GRCm39)	T7S	probably benign	Het
Nipsnap3a	A	G	4: 52,995,882 (GRCm39)	Q110R	probably benign	Het
Nostrin	T	C	2: 69,014,240 (GRCm39)	Y399H	possibly damaging	Het
Nsfl1c	C	A	2: 151,351,431 (GRCm39)	T263K	possibly damaging	Het
Or14j10	G	T	17: 37,935,276 (GRCm39)	D83E	probably benign	Het
Or1o2	T	C	17: 37,542,871 (GRCm39)	Y130C	probably damaging	Het
Or51e1	T	A	7: 102,358,724 (GRCm39)	I86N	probably damaging	Het
Or52z1	T	A	7: 103,436,879 (GRCm39)	I202F	possibly damaging	Het
Or5g26	T	A	2: 85,494,524 (GRCm39)	M85L	probably benign	Het
Or8d1b	A	T	9: 38,887,500 (GRCm39)	H176L	probably damaging	Het
Pan3	G	A	5: 147,463,491 (GRCm39)		probably null	Het
Pcdhgb2	C	T	18: 37,824,068 (GRCm39)	T353I	probably damaging	Het
Pcif1	A	T	2: 164,730,284 (GRCm39)	H339L	probably damaging	Het
Pcif1	A	G	2: 164,731,550 (GRCm39)	H501R	possibly damaging	Het
Pcnt	T	C	10: 76,225,284 (GRCm39)	H1740R	probably benign	Het
Polr1b	T	A	2: 128,967,583 (GRCm39)	I992N	probably damaging	Het
Ppfia2	C	T	10: 106,763,691 (GRCm39)	T1228M	possibly damaging	Het
Ppp2r5e	A	G	12: 75,509,116 (GRCm39)	F388L	probably damaging	Het
Ptpre	G	T	7: 135,139,803 (GRCm39)	R4L	unknown	Het
Pzp	G	T	6: 128,463,879 (GRCm39)	P1410T	probably damaging	Het
Qrich1	A	C	9: 108,433,675 (GRCm39)	K656T	possibly damaging	Het
Rabep1	C	T	11: 70,808,486 (GRCm39)	P481S	probably damaging	Het
Rgs9	T	A	11: 109,118,094 (GRCm39)	R579W	probably damaging	Het
Rhot1	T	C	11: 80,139,366 (GRCm39)		probably null	Het
Rnf123	T	A	9: 107,947,607 (GRCm39)		probably null	Het
Rreb1	T	G	13: 38,125,545 (GRCm39)	C1284G	probably damaging	Het
Rsph4a	A	G	10: 33,785,289 (GRCm39)	E400G	probably benign	Het
Rufy4	T	A	1: 74,168,493 (GRCm39)		probably null	Het
S100pbp	A	G	4: 129,075,878 (GRCm39)	L149P	probably damaging	Het
Sall3	T	C	18: 81,015,255 (GRCm39)	D891G	probably benign	Het
Scn10a	C	T	9: 119,467,618 (GRCm39)	V841I	probably benign	Het
Scn5a	T	A	9: 119,351,656 (GRCm39)	Y775F	possibly damaging	Het
Sec62	A	T	3: 30,863,945 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,583 (GRCm39)	M108K	unknown	Het
Spata22	T	A	11: 73,226,816 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,208,633 (GRCm39)	H387R	probably damaging	Het
Stk4	A	G	2: 163,928,522 (GRCm39)	N118S	probably benign	Het
Stt3a	A	T	9: 36,659,266 (GRCm39)	S358T	possibly damaging	Het
Tbc1d31	T	A	15: 57,814,391 (GRCm39)	F531I	probably damaging	Het
Tfrc	A	G	16: 32,437,867 (GRCm39)	T307A	probably damaging	Het
Tnpo2	T	C	8: 85,781,651 (GRCm39)	I811T	probably damaging	Het
Ttc23l	T	C	15: 10,533,853 (GRCm39)	Y230C	probably damaging	Het
Ttll13	A	G	7: 79,910,182 (GRCm39)	D775G	probably benign	Het
Ttn	T	C	2: 76,775,273 (GRCm39)	K1969R	unknown	Het
Ube2s	G	A	7: 4,813,435 (GRCm39)	R110*	probably null	Het
Ubxn11	G	A	4: 133,853,540 (GRCm39)	R364Q	probably benign	Het
Unc13d	T	C	11: 115,958,697 (GRCm39)	Q773R	probably benign	Het
Ush2a	T	C	1: 188,285,308 (GRCm39)	V1948A	probably damaging	Het
Vmn1r205	A	T	13: 22,776,931 (GRCm39)	I57N	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Vmn2r71	A	T	7: 85,273,297 (GRCm39)	T704S	probably benign	Het
Vmn2r93	T	A	17: 18,533,580 (GRCm39)	S495T	probably benign	Het
Wiz	T	A	17: 32,598,049 (GRCm39)	I102F	probably benign	Het
Zan	A	C	5: 137,464,264 (GRCm39)	L514V	probably damaging	Het
Zfp106	T	A	2: 120,341,008 (GRCm39)	N1857I	probably damaging	Het
Zfp106	A	T	2: 120,376,400 (GRCm39)		probably null	Het
Zfp738	T	C	13: 67,818,474 (GRCm39)	T506A	probably benign	Het
Zfp934	T	C	13: 62,666,517 (GRCm39)	N53S	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
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
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'- TGGGGACAGGACTTCCATAAAG -3'
(R):5'- ACATTGGTAAAGAGGTGTATCTGTCTG -3'

Sequencing Primer
(F):5'- AGTATCTGAAAGCAGGGC -3'
(R):5'- GCAGCAAGTTATAGTAACATTTTCC -3'

Posted On

2019-10-07