Mutagenetix > Incidental Mutation

Incidental Mutation 'R1992:Nup133'

223664

Institutional Source

Beutler Lab

Gene Symbol

Nup133

Ensembl Gene

ENSMUSG00000039509

Gene Name

nucleoporin 133

Synonyms

mermaid, 4832420O05Rik

MMRRC Submission

040003-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1992 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

123897123-123949265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123906221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1057 (I1057T)

Ref Sequence

ENSEMBL: ENSMUSP00000048084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]

AlphaFold

Q8R0G9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044795
AA Change: I1057T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: I1057T

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
PDB:1XKS\|A	66	513	N/A	PDB
Pfam:Nucleoporin_C	593	1052	1.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality prior to E10.5, abnormal somitogenesis, pericardial edema, growth retardation, and abnormal neural development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,338,206 (GRCm38)	D89G	probably damaging	Het
1600015I10Rik	T	A	6: 48,930,769 (GRCm38)	H234Q	probably damaging	Het
2310009B15Rik	T	C	1: 138,853,642 (GRCm38)	T90A	probably damaging	Het
4430402I18Rik	A	G	19: 28,948,624 (GRCm38)	F130L	probably damaging	Het
4932438A13Rik	A	T	3: 37,000,032 (GRCm38)	H3100L	probably benign	Het
A930011G23Rik	T	C	5: 99,233,925 (GRCm38)	D326G	possibly damaging	Het
Abcc2	A	T	19: 43,807,142 (GRCm38)	I446F	probably damaging	Het
Adamts14	A	G	10: 61,198,660 (GRCm38)	Y1150H	probably benign	Het
Adgrl2	A	G	3: 148,817,244 (GRCm38)	I217T	possibly damaging	Het
Afap1l1	A	T	18: 61,741,771 (GRCm38)	Y446*	probably null	Het
Aimp2	G	A	5: 143,906,730 (GRCm38)	A14V	probably damaging	Het
Akap8	G	A	17: 32,316,612 (GRCm38)	H143Y	probably damaging	Het
Aldh2	A	T	5: 121,575,963 (GRCm38)	V207E	possibly damaging	Het
Armc3	T	C	2: 19,293,142 (GRCm38)	Y575H	probably damaging	Het
Arpp21	T	C	9: 112,157,793 (GRCm38)	E230G	probably damaging	Het
Arrdc3	G	A	13: 80,883,689 (GRCm38)	D14N	probably damaging	Het
Atn1	A	G	6: 124,745,328 (GRCm38)		probably benign	Het
Atxn7l1	G	A	12: 33,358,744 (GRCm38)	D302N	probably damaging	Het
Bbs1	T	A	19: 4,891,708 (GRCm38)	H518L	probably benign	Het
Bmpr1a	C	A	14: 34,425,093 (GRCm38)	G241C	probably damaging	Het
Cacna1b	G	A	2: 24,732,306 (GRCm38)	P222L	probably damaging	Het
Calcrl	T	C	2: 84,370,511 (GRCm38)	Y63C	probably damaging	Het
Cand2	A	G	6: 115,785,132 (GRCm38)	H173R	possibly damaging	Het
Cap2	T	A	13: 46,637,881 (GRCm38)	Y175N	possibly damaging	Het
Card14	A	T	11: 119,321,821 (GRCm38)		probably null	Het
Cd3d	T	A	9: 44,985,001 (GRCm38)	Y29*	probably null	Het
Cd4	A	G	6: 124,867,688 (GRCm38)	V378A	possibly damaging	Het
Cluh	A	T	11: 74,660,002 (GRCm38)	H318L	probably damaging	Het
Clvs1	T	A	4: 9,281,899 (GRCm38)	D114E	probably benign	Het
Cnot4	T	A	6: 35,023,409 (GRCm38)	T548S	probably benign	Het
Col18a1	T	C	10: 77,081,154 (GRCm38)	I114V	unknown	Het
Cr2	G	A	1: 195,154,150 (GRCm38)	P1278S	possibly damaging	Het
Crebbp	A	T	16: 4,128,697 (GRCm38)		probably null	Het
D430042O09Rik	A	G	7: 125,820,089 (GRCm38)	N476S	probably benign	Het
Dnah7a	T	G	1: 53,582,676 (GRCm38)	K1097Q	possibly damaging	Het
Doc2a	T	A	7: 126,851,807 (GRCm38)		probably null	Het
Dpp10	A	T	1: 123,905,106 (GRCm38)	V48E	probably null	Het
Dsg2	A	G	18: 20,601,473 (GRCm38)	K836R	probably damaging	Het
Egr2	T	C	10: 67,540,027 (GRCm38)	V164A	probably damaging	Het
Erbin	A	T	13: 103,833,713 (GRCm38)	S1132T	probably benign	Het
Espn	T	A	4: 152,128,555 (GRCm38)		probably null	Het
Fam83b	A	G	9: 76,492,022 (GRCm38)	S600P	probably benign	Het
Fanca	A	T	8: 123,297,812 (GRCm38)	N425K	possibly damaging	Het
Flot2	C	T	11: 78,058,619 (GRCm38)	L294F	probably damaging	Het
Frs2	A	G	10: 117,074,554 (GRCm38)	V301A	probably benign	Het
Fv1	T	A	4: 147,869,161 (GRCm38)	N61K	possibly damaging	Het
Fxr2	A	G	11: 69,649,833 (GRCm38)	E339G	possibly damaging	Het
Gck	T	C	11: 5,906,515 (GRCm38)	Y214C	probably damaging	Het
Gm4858	G	T	3: 93,074,037 (GRCm38)	A121S	probably benign	Het
Gm5346	T	C	8: 43,627,139 (GRCm38)	K16R	probably benign	Het
Gm9573	A	T	17: 35,618,708 (GRCm38)	S1529T	probably benign	Het
Golga3	C	G	5: 110,192,973 (GRCm38)	T551R	probably damaging	Het
Gorab	A	G	1: 163,397,056 (GRCm38)	S59P	probably damaging	Het
Gsdme	C	T	6: 50,208,122 (GRCm38)	V451M	probably damaging	Het
H2-Bl	A	C	17: 36,081,046 (GRCm38)	I216S	probably damaging	Het
Herc4	T	A	10: 63,245,964 (GRCm38)	V22E	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Hoxa2	A	T	6: 52,164,596 (GRCm38)	S17T	probably damaging	Het
Hs3st5	A	G	10: 36,832,886 (GRCm38)	Y139C	probably damaging	Het
Ism1	G	A	2: 139,746,017 (GRCm38)	V221I	probably benign	Het
Kalrn	T	G	16: 33,975,738 (GRCm38)	L1222F	probably damaging	Het
Kdm4c	A	G	4: 74,343,394 (GRCm38)	D602G	possibly damaging	Het
Ktn1	A	G	14: 47,695,521 (GRCm38)	K711E	probably damaging	Het
Lce1k	A	T	3: 92,806,818 (GRCm38)	C20S	unknown	Het
Macf1	A	G	4: 123,456,695 (GRCm38)	S3792P	probably damaging	Het
Maml3	C	T	3: 51,690,757 (GRCm38)	M189I	probably benign	Het
Mcc	C	A	18: 44,491,315 (GRCm38)	E213*	probably null	Het
Mep1a	T	G	17: 43,502,682 (GRCm38)	I13L	probably benign	Het
Mkrn2	G	T	6: 115,609,601 (GRCm38)	C16F	probably damaging	Het
Mlh1	C	T	9: 111,228,563 (GRCm38)	A727T	probably damaging	Het
Naa16	T	C	14: 79,356,491 (GRCm38)	Y344C	probably damaging	Het
Nebl	T	A	2: 17,452,510 (GRCm38)	I80F	probably damaging	Het
Nlrc4	T	A	17: 74,445,633 (GRCm38)	Y585F	probably benign	Het
Nrcam	A	G	12: 44,540,970 (GRCm38)	K149R	probably damaging	Het
Nufip1	T	A	14: 76,134,847 (GRCm38)	I467N	probably damaging	Het
Obscn	A	T	11: 58,995,827 (GRCm38)		probably benign	Het
Olfr1113	T	A	2: 87,213,244 (GRCm38)	C117*	probably null	Het
Olfr173	A	G	16: 58,796,946 (GRCm38)	V300A	probably benign	Het
Olfr177	A	C	16: 58,872,511 (GRCm38)	I213R	probably benign	Het
Pi4k2a	A	T	19: 42,115,938 (GRCm38)	I380F	probably damaging	Het
Piezo2	A	T	18: 63,074,662 (GRCm38)	L1426Q	probably null	Het
Pik3cg	A	T	12: 32,204,025 (GRCm38)	D654E	possibly damaging	Het
Poli	G	T	18: 70,508,987 (GRCm38)	P714Q	probably damaging	Het
Polr3f	A	G	2: 144,536,310 (GRCm38)	N201D	probably benign	Het
Ptprz1	A	T	6: 22,959,748 (GRCm38)	K81N	probably benign	Het
Rbm19	T	C	5: 120,133,883 (GRCm38)		probably null	Het
Sec24a	C	T	11: 51,736,363 (GRCm38)	V241I	probably benign	Het
Sgk3	A	G	1: 9,880,342 (GRCm38)	T160A	possibly damaging	Het
Slc1a4	A	G	11: 20,304,375 (GRCm38)	I497T	probably benign	Het
Slc26a9	A	T	1: 131,762,794 (GRCm38)	D512V	probably damaging	Het
Slc43a3	C	T	2: 84,957,740 (GRCm38)	R489C	probably damaging	Het
Slc5a12	T	A	2: 110,621,744 (GRCm38)	F327L	probably benign	Het
Slitrk3	A	G	3: 73,049,771 (GRCm38)	V556A	possibly damaging	Het
Spib	T	C	7: 44,528,857 (GRCm38)	E180G	probably benign	Het
Spint2	T	A	7: 29,259,408 (GRCm38)	N128Y	probably damaging	Het
Spx	G	A	6: 142,418,519 (GRCm38)	G102E	probably benign	Het
Spz1	T	A	13: 92,575,658 (GRCm38)	E103D	possibly damaging	Het
Sstr2	T	C	11: 113,624,669 (GRCm38)	I138T	probably benign	Het
Sytl3	T	A	17: 6,733,049 (GRCm38)	I206N	possibly damaging	Het
Tcaf2	T	C	6: 42,629,857 (GRCm38)	T388A	probably benign	Het
Thap12	T	C	7: 98,716,365 (GRCm38)	V580A	possibly damaging	Het
Tlr5	T	A	1: 182,974,347 (GRCm38)	D405E	probably damaging	Het
Tnxb	T	C	17: 34,671,904 (GRCm38)	V407A	probably damaging	Het
Tpx2	T	A	2: 152,890,624 (GRCm38)	M606K	probably benign	Het
Trim43a	T	G	9: 88,584,259 (GRCm38)	L211R	probably damaging	Het
Trim46	A	T	3: 89,237,701 (GRCm38)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,276,322 (GRCm38)	S1485L	probably benign	Het
Ttll8	T	C	15: 88,914,451 (GRCm38)	T694A	probably benign	Het
Txnl1	T	C	18: 63,679,514 (GRCm38)	T70A	probably benign	Het
Ube3a	C	T	7: 59,303,787 (GRCm38)	A823V	probably damaging	Het
Ubqln5	C	A	7: 104,129,534 (GRCm38)	V28F	probably damaging	Het
Ulk1	T	A	5: 110,787,151 (GRCm38)	Q972L	probably damaging	Het
Unc93b1	T	C	19: 3,944,062 (GRCm38)	Y398H	probably benign	Het
Usp1	A	G	4: 98,934,294 (GRCm38)	D615G	probably benign	Het
Utp15	A	G	13: 98,250,912 (GRCm38)	C385R	probably benign	Het
Vmn2r91	T	A	17: 18,135,880 (GRCm38)	V603D	probably damaging	Het
Whamm	C	T	7: 81,591,771 (GRCm38)	R277*	probably null	Het
Wnt8a	A	G	18: 34,544,884 (GRCm38)	D115G	probably damaging	Het
Yjefn3	A	T	8: 69,888,995 (GRCm38)		probably null	Het
Ywhab	A	T	2: 164,011,887 (GRCm38)	I95F	probably damaging	Het
Zfp143	C	T	7: 110,061,282 (GRCm38)		probably benign	Het
Zfp607b	C	G	7: 27,702,524 (GRCm38)	T135R	possibly damaging	Het
Zfp970	A	G	2: 177,474,870 (GRCm38)	Q79R	possibly damaging	Het

Other mutations in Nup133

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Nup133	APN	8	123,939,083 (GRCm38)	missense	probably damaging	0.98
IGL00507:Nup133	APN	8	123,918,967 (GRCm38)	nonsense	probably null
IGL00585:Nup133	APN	8	123,909,994 (GRCm38)	missense	probably damaging	1.00
IGL00676:Nup133	APN	8	123,906,298 (GRCm38)	intron	probably benign
IGL00966:Nup133	APN	8	123,911,906 (GRCm38)	missense	probably damaging	0.98
IGL01069:Nup133	APN	8	123,930,982 (GRCm38)	nonsense	probably null
IGL01553:Nup133	APN	8	123,915,324 (GRCm38)	missense	possibly damaging	0.58
IGL01669:Nup133	APN	8	123,939,130 (GRCm38)	nonsense	probably null
IGL01730:Nup133	APN	8	123,938,233 (GRCm38)	missense	probably benign	0.00
IGL01996:Nup133	APN	8	123,946,595 (GRCm38)	missense	probably benign	0.00
IGL02332:Nup133	APN	8	123,907,832 (GRCm38)	missense	probably damaging	1.00
IGL02552:Nup133	APN	8	123,929,255 (GRCm38)	missense	possibly damaging	0.75
IGL02956:Nup133	APN	8	123,949,083 (GRCm38)	missense	probably benign	0.00
IGL03009:Nup133	APN	8	123,933,500 (GRCm38)	missense	possibly damaging	0.46
IGL03036:Nup133	APN	8	123,946,594 (GRCm38)	missense	probably benign	0.11
Cadenza	UTSW	8	123,911,888 (GRCm38)	frame shift	probably null
Gangen	UTSW	8	123,916,282 (GRCm38)	critical splice donor site	probably null
hochzeit	UTSW	8	123,929,343 (GRCm38)	missense	probably benign	0.00
low_road	UTSW	8	123,904,579 (GRCm38)	missense	probably damaging	1.00
Pathway	UTSW	8	123,917,446 (GRCm38)	missense	possibly damaging	0.82
Slant	UTSW	8	123,916,281 (GRCm38)	splice site	probably null
R0010:Nup133	UTSW	8	123,904,579 (GRCm38)	missense	probably damaging	1.00
R0010:Nup133	UTSW	8	123,904,579 (GRCm38)	missense	probably damaging	1.00
R0139:Nup133	UTSW	8	123,929,343 (GRCm38)	missense	probably benign	0.00
R0344:Nup133	UTSW	8	123,917,446 (GRCm38)	missense	possibly damaging	0.82
R0730:Nup133	UTSW	8	123,949,008 (GRCm38)	missense	probably benign	0.00
R1301:Nup133	UTSW	8	123,917,417 (GRCm38)	intron	probably benign
R1453:Nup133	UTSW	8	123,915,375 (GRCm38)	missense	probably benign	0.00
R1570:Nup133	UTSW	8	123,949,176 (GRCm38)	start codon destroyed	possibly damaging	0.82
R1607:Nup133	UTSW	8	123,949,035 (GRCm38)	missense	probably benign	0.02
R1773:Nup133	UTSW	8	123,930,983 (GRCm38)	nonsense	probably null
R2062:Nup133	UTSW	8	123,914,575 (GRCm38)	missense	probably damaging	1.00
R2065:Nup133	UTSW	8	123,914,575 (GRCm38)	missense	probably damaging	1.00
R2066:Nup133	UTSW	8	123,914,575 (GRCm38)	missense	probably damaging	1.00
R2068:Nup133	UTSW	8	123,914,575 (GRCm38)	missense	probably damaging	1.00
R4397:Nup133	UTSW	8	123,944,301 (GRCm38)	missense	probably benign	0.04
R4683:Nup133	UTSW	8	123,930,982 (GRCm38)	nonsense	probably null
R4771:Nup133	UTSW	8	123,929,398 (GRCm38)	missense	probably damaging	1.00
R4910:Nup133	UTSW	8	123,927,131 (GRCm38)	missense	possibly damaging	0.91
R4911:Nup133	UTSW	8	123,927,131 (GRCm38)	missense	possibly damaging	0.91
R4968:Nup133	UTSW	8	123,915,196 (GRCm38)	missense	probably benign	0.07
R5411:Nup133	UTSW	8	123,927,206 (GRCm38)	missense	probably benign
R5470:Nup133	UTSW	8	123,930,966 (GRCm38)	missense	probably benign	0.00
R5664:Nup133	UTSW	8	123,906,281 (GRCm38)	missense	probably benign	0.01
R5907:Nup133	UTSW	8	123,916,299 (GRCm38)	missense	possibly damaging	0.90
R6003:Nup133	UTSW	8	123,938,292 (GRCm38)	missense	probably damaging	0.98
R6059:Nup133	UTSW	8	123,914,596 (GRCm38)	missense	probably damaging	1.00
R6219:Nup133	UTSW	8	123,936,873 (GRCm38)	missense	possibly damaging	0.90
R6292:Nup133	UTSW	8	123,917,437 (GRCm38)	missense	probably benign	0.01
R6672:Nup133	UTSW	8	123,916,281 (GRCm38)	splice site	probably null
R6737:Nup133	UTSW	8	123,906,291 (GRCm38)	missense	probably damaging	0.99
R6763:Nup133	UTSW	8	123,944,278 (GRCm38)	missense	possibly damaging	0.95
R6870:Nup133	UTSW	8	123,899,507 (GRCm38)	missense	probably benign	0.08
R6975:Nup133	UTSW	8	123,915,318 (GRCm38)	missense	probably damaging	0.99
R7101:Nup133	UTSW	8	123,906,227 (GRCm38)	missense	possibly damaging	0.89
R7114:Nup133	UTSW	8	123,915,373 (GRCm38)	missense	probably benign	0.00
R7271:Nup133	UTSW	8	123,922,414 (GRCm38)	missense	probably benign	0.34
R7501:Nup133	UTSW	8	123,922,414 (GRCm38)	missense	probably benign	0.34
R8054:Nup133	UTSW	8	123,949,217 (GRCm38)	intron	probably benign
R8397:Nup133	UTSW	8	123,922,417 (GRCm38)	missense	probably benign	0.17
R8703:Nup133	UTSW	8	123,916,282 (GRCm38)	critical splice donor site	probably null
R8811:Nup133	UTSW	8	123,911,888 (GRCm38)	frame shift	probably null
R8813:Nup133	UTSW	8	123,911,888 (GRCm38)	frame shift	probably null
R8952:Nup133	UTSW	8	123,907,761 (GRCm38)	missense	probably damaging	1.00
R9116:Nup133	UTSW	8	123,933,416 (GRCm38)	missense	probably benign	0.00
R9340:Nup133	UTSW	8	123,938,142 (GRCm38)	missense	probably benign	0.38
X0023:Nup133	UTSW	8	123,909,988 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTGAGACAGTGTGTTTTCTCTC -3'
(R):5'- CCAAATGTGACATTGTTCTTGGC -3'

Sequencing Primer
(F):5'- CAGTGTGTTTTCTCTCTCTTTTTAAC -3'
(R):5'- GACATTGTTCTTGGCTACAAAAATAC -3'

Posted On

2014-08-25