Mutagenetix > Incidental Mutation

Incidental Mutation 'R4626:Nup58'

348800

Institutional Source

Beutler Lab

Gene Symbol

Nup58

Ensembl Gene

ENSMUSG00000063895

Gene Name

nucleoporin 58

Synonyms

Nupl1, 1700017F11Rik

MMRRC Submission

041891-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60442733-60488951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60476004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 271 (V271A)

Ref Sequence

ENSEMBL: ENSMUSP00000153642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041905] [ENSMUST00000225111] [ENSMUST00000225311] [ENSMUST00000225805]

AlphaFold

Q8R332

Predicted Effect

probably benign
Transcript: ENSMUST00000041905
AA Change: V271A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038716
Gene: ENSMUSG00000114797
AA Change: V271A

Domain	Start	End	E-Value	Type
Pfam:Nucleoporin_FG2	3	587	1.5e-299	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224575

Predicted Effect

probably benign
Transcript: ENSMUST00000225111
AA Change: V271A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000225311
AA Change: V271A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225572

Predicted Effect

probably benign
Transcript: ENSMUST00000225805
AA Change: V271A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,313,784 (GRCm39)	*527G	probably null	Het
Abca17	A	T	17: 24,540,058 (GRCm39)	I390N	probably damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,693,936 (GRCm39)	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,621,837 (GRCm39)	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,698,193 (GRCm39)	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,481,863 (GRCm39)	D953G	probably damaging	Het
Atxn1	T	C	13: 45,720,575 (GRCm39)	Y440C	probably damaging	Het
Bccip	T	C	7: 133,322,457 (GRCm39)	Y268H	possibly damaging	Het
Brms1l	C	A	12: 55,909,958 (GRCm39)	P243T	probably benign	Het
Btbd10	T	C	7: 112,927,605 (GRCm39)	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,358,294 (GRCm39)		probably null	Het
Cfhr2	A	T	1: 139,741,314 (GRCm39)	N220K	probably damaging	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,903 (GRCm39)	I831V	possibly damaging	Het
F2	T	A	2: 91,461,015 (GRCm39)	N239I	probably benign	Het
Fbln5	T	A	12: 101,727,086 (GRCm39)	D301V	probably damaging	Het
Fbn2	A	T	18: 58,146,819 (GRCm39)	C2692*	probably null	Het
Fhdc1	C	T	3: 84,381,557 (GRCm39)	D34N	probably damaging	Het
Galnt13	T	A	2: 54,747,878 (GRCm39)	M253K	probably damaging	Het
Gpc6	C	A	14: 118,202,255 (GRCm39)	Y488*	probably null	Het
Grm5	G	T	7: 87,779,361 (GRCm39)	G934C	probably damaging	Het
Gys1	T	C	7: 45,088,958 (GRCm39)	L119S	probably damaging	Het
H2-T15	CTGGGTG	CTG	17: 36,368,788 (GRCm39)		probably null	Het
Htra4	T	C	8: 25,527,130 (GRCm39)	N222D	probably benign	Het
Iba57	A	G	11: 59,049,287 (GRCm39)	V294A	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama5	G	A	2: 179,826,253 (GRCm39)	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,106,158 (GRCm39)	E728K	probably benign	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mettl18	T	A	1: 163,824,045 (GRCm39)	V122E	probably damaging	Het
Mindy2	G	A	9: 70,534,063 (GRCm39)	S378L	probably damaging	Het
Mis18bp1	G	T	12: 65,187,540 (GRCm39)	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,980 (GRCm39)	R106*	probably null	Het
Nup214	T	A	2: 31,923,416 (GRCm39)	V1315E	possibly damaging	Het
Or1j1	A	G	2: 36,702,271 (GRCm39)	Y278H	probably damaging	Het
Or4c101	T	C	2: 88,390,176 (GRCm39)	V121A	possibly damaging	Het
Or6f2	T	C	7: 139,756,359 (GRCm39)	S109P	probably damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pcdha11	A	T	18: 37,140,051 (GRCm39)	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,535,302 (GRCm39)	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460 (GRCm39)		probably benign	Het
Poll	C	A	19: 45,543,563 (GRCm39)	M385I	probably benign	Het
Pomt1	A	G	2: 32,144,424 (GRCm39)	K737E	possibly damaging	Het
Prr16	C	T	18: 51,435,911 (GRCm39)	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,510,873 (GRCm39)		probably null	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Scn10a	A	G	9: 119,460,571 (GRCm39)	I1101T	possibly damaging	Het
Slc22a22	T	C	15: 57,126,734 (GRCm39)	T93A	probably damaging	Het
Snx10	A	G	6: 51,565,270 (GRCm39)	D129G	probably damaging	Het
Stub1	A	G	17: 26,050,845 (GRCm39)		probably null	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Trmu	T	C	15: 85,779,186 (GRCm39)	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,239,947 (GRCm39)	F146C	probably damaging	Het
Vav2	T	C	2: 27,160,172 (GRCm39)	I692V	possibly damaging	Het
Wdfy3	A	G	5: 102,091,800 (GRCm39)	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,467,699 (GRCm39)	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,315,844 (GRCm39)	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,542,912 (GRCm39)	F142L	probably damaging	Het

Other mutations in Nup58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Nup58	APN	14	60,480,026 (GRCm39)	missense	probably benign	0.01
IGL00693:Nup58	APN	14	60,475,969 (GRCm39)	missense	probably benign	0.10
IGL00725:Nup58	APN	14	60,480,889 (GRCm39)	missense	possibly damaging	0.84
IGL00969:Nup58	APN	14	60,466,365 (GRCm39)	splice site	probably benign
IGL03243:Nup58	APN	14	60,459,065 (GRCm39)	missense	probably benign	0.06
IGL03351:Nup58	APN	14	60,466,224 (GRCm39)	missense	probably benign	0.19
R0056:Nup58	UTSW	14	60,476,924 (GRCm39)	splice site	probably null
R0113:Nup58	UTSW	14	60,488,740 (GRCm39)	start gained	probably benign
R0201:Nup58	UTSW	14	60,482,065 (GRCm39)	missense	probably benign	0.32
R0830:Nup58	UTSW	14	60,480,931 (GRCm39)	missense	probably damaging	1.00
R0925:Nup58	UTSW	14	60,457,590 (GRCm39)	missense	probably damaging	0.99
R1004:Nup58	UTSW	14	60,484,930 (GRCm39)	splice site	probably benign
R1178:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1181:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1268:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1388:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1411:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1442:Nup58	UTSW	14	60,469,992 (GRCm39)	splice site	probably benign
R1626:Nup58	UTSW	14	60,480,076 (GRCm39)	nonsense	probably null
R1697:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1756:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1853:Nup58	UTSW	14	60,481,996 (GRCm39)	missense	possibly damaging	0.81
R1915:Nup58	UTSW	14	60,475,980 (GRCm39)	missense	probably benign	0.00
R2160:Nup58	UTSW	14	60,476,957 (GRCm39)	missense	probably benign	0.15
R2211:Nup58	UTSW	14	60,470,089 (GRCm39)	missense	probably damaging	0.99
R2213:Nup58	UTSW	14	60,476,945 (GRCm39)	missense	probably benign	0.01
R2518:Nup58	UTSW	14	60,470,109 (GRCm39)	missense	probably damaging	1.00
R2519:Nup58	UTSW	14	60,460,808 (GRCm39)	missense	probably benign	0.23
R3914:Nup58	UTSW	14	60,469,596 (GRCm39)	missense	possibly damaging	0.76
R4302:Nup58	UTSW	14	60,484,875 (GRCm39)	missense	probably benign	0.44
R4705:Nup58	UTSW	14	60,488,664 (GRCm39)	missense	unknown
R4772:Nup58	UTSW	14	60,457,471 (GRCm39)	missense	probably benign	0.00
R6151:Nup58	UTSW	14	60,482,065 (GRCm39)	missense	possibly damaging	0.71
R6187:Nup58	UTSW	14	60,478,256 (GRCm39)	splice site	probably null
R6546:Nup58	UTSW	14	60,460,672 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCTTAATAGCATGTAAATACCAAAC -3'
(R):5'- AACGTTTTAAATCCTGGTCTCTTTGTT -3'

Sequencing Primer
(F):5'- TTCAGGAGCTCCCCCAC -3'
(R):5'- CTGATCCTTGGCTTCTGCTAGAG -3'

Posted On

2015-10-08