Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Nup58'

489295

Institutional Source

Beutler Lab

Gene Symbol

Nup58

Ensembl Gene

ENSMUSG00000063895

Gene Name

nucleoporin 58

Synonyms

Nupl1, 1700017F11Rik

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60442733-60488951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60482065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 100 (F100I)

Ref Sequence

ENSEMBL: ENSMUSP00000153642 (fasta)

Gene Model

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

AlphaFold

Q8R332

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041905
AA Change: F100I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038716
Gene: ENSMUSG00000114797
AA Change: F100I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224575

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225111
AA Change: F100I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225311
AA Change: F100I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225572

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225805
AA Change: F100I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,099,216 (GRCm39)		probably null	Het
4930550C14Rik	G	T	9: 53,325,683 (GRCm39)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm39)	V517A	probably benign	Het
Adck5	A	T	15: 76,478,887 (GRCm39)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,072,575 (GRCm39)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,223,459 (GRCm39)	R51*	probably null	Het
Arhgap23	A	G	11: 97,391,238 (GRCm39)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,617,367 (GRCm39)	T354A	probably benign	Het
Arid1a	G	T	4: 133,412,287 (GRCm39)	Q1636K	unknown	Het
Asmt	C	T	X: 169,110,202 (GRCm39)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,691,716 (GRCm39)	C43S	probably benign	Het
Cd36	T	C	5: 18,000,593 (GRCm39)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 17,803,030 (GRCm39)	L145F	probably benign	Het
Col24a1	C	T	3: 145,019,815 (GRCm39)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,741,475 (GRCm39)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,180,756 (GRCm39)	L140P	probably damaging	Het
Dhrs13	G	A	11: 77,927,808 (GRCm39)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,986,406 (GRCm39)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,110,145 (GRCm39)	F20C	probably damaging	Het
Enpep	T	C	3: 129,126,067 (GRCm39)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,045,791 (GRCm39)		probably null	Het
Eprs1	G	T	1: 185,139,951 (GRCm39)		probably null	Het
Etl4	T	A	2: 20,718,171 (GRCm39)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,225,670 (GRCm39)	S89*	probably null	Het
F5	A	T	1: 164,009,204 (GRCm39)	I325F	probably damaging	Het
F5	G	A	1: 164,017,756 (GRCm39)	C611Y	probably damaging	Het
Fam133b	A	T	5: 3,609,133 (GRCm39)	S116C	probably null	Het
Fam13b	A	T	18: 34,627,330 (GRCm39)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,230,138 (GRCm39)	Y58D	probably damaging	Het
Far1	G	A	7: 113,160,603 (GRCm39)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,364,579 (GRCm39)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,480,468 (GRCm39)	Q469K	unknown	Het
Frs3	A	T	17: 48,000,013 (GRCm39)		probably benign	Het
Gdpd3	A	G	7: 126,374,674 (GRCm39)	S290G	probably benign	Het
Gmip	T	A	8: 70,269,735 (GRCm39)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,754,851 (GRCm39)	I176N	probably damaging	Het
Grm3	A	G	5: 9,561,556 (GRCm39)	F765L	probably damaging	Het
Hhat	A	T	1: 192,442,065 (GRCm39)	L2Q	probably damaging	Het
Hspbap1	T	C	16: 35,637,592 (GRCm39)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,424,909 (GRCm39)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,096,527 (GRCm39)	K50*	probably null	Het
Kidins220	T	C	12: 25,106,908 (GRCm39)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,655,198 (GRCm39)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,501,129 (GRCm39)	D806V	probably benign	Het
Krt26	T	C	11: 99,228,315 (GRCm39)	E139G	probably benign	Het
Lefty1	T	C	1: 180,762,681 (GRCm39)	F3L	unknown	Het
Madd	A	C	2: 90,995,802 (GRCm39)	Y853*	probably null	Het
Map1a	T	A	2: 121,120,304 (GRCm39)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm39)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,532,477 (GRCm39)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,504,859 (GRCm39)		probably null	Het
Mpp3	C	A	11: 101,899,392 (GRCm39)	R376S	probably benign	Het
Ncoa4-ps	T	G	12: 119,224,841 (GRCm39)		noncoding transcript	Het
Nup160	T	A	2: 90,520,449 (GRCm39)	Y293*	probably null	Het
Nxpe2	A	C	9: 48,237,491 (GRCm39)	L255V	probably benign	Het
Or10ab4	A	G	7: 107,655,106 (GRCm39)	I306V	probably benign	Het
Or1e30	T	A	11: 73,678,521 (GRCm39)	Y252*	probably null	Het
Or2l5	A	T	16: 19,334,281 (GRCm39)	L35Q	probably damaging	Het
Or4d11	T	C	19: 12,014,100 (GRCm39)	E2G	probably benign	Het
Padi3	A	T	4: 140,523,705 (GRCm39)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,966,616 (GRCm39)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,458,748 (GRCm39)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,794,580 (GRCm39)	H2089R	probably benign	Het
Plaat5	C	T	19: 7,596,656 (GRCm39)	P148S	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,776,160 (GRCm39)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm39)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,301,476 (GRCm39)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,118,327 (GRCm39)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,283,649 (GRCm39)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,339,770 (GRCm39)	V58I	possibly damaging	Het
Slfn8	T	A	11: 82,908,147 (GRCm39)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,047,033 (GRCm39)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,431,021 (GRCm39)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 126,807,168 (GRCm39)	T123M	probably damaging	Het
Tenm2	A	C	11: 35,899,610 (GRCm39)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,848,608 (GRCm39)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,674,661 (GRCm39)	M355L	probably benign	Het
Tns4	C	T	11: 98,966,376 (GRCm39)	S433N	probably benign	Het
Traip	G	T	9: 107,847,818 (GRCm39)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm39)	R2C	probably damaging	Het
Ttn	A	T	2: 76,774,504 (GRCm39)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm39)	D380G	probably benign	Het
Ube2t	T	A	1: 134,895,698 (GRCm39)		probably null	Het
Ugdh	A	T	5: 65,574,924 (GRCm39)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,095,841 (GRCm39)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 19,835,360 (GRCm39)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,450,878 (GRCm39)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,804,221 (GRCm39)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,891,897 (GRCm39)		probably null	Het
Vwf	A	G	6: 125,634,028 (GRCm39)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,662,911 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,405,662 (GRCm39)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,819,910 (GRCm39)	V1051A	probably benign	Het
Zfp998	A	T	13: 66,579,740 (GRCm39)	C248S	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
R4626:Nup58	UTSW	14	60,476,004 (GRCm39)	missense	probably benign	0.24
R4705:Nup58	UTSW	14	60,488,664 (GRCm39)	missense	unknown
R4772:Nup58	UTSW	14	60,457,471 (GRCm39)	missense	probably benign	0.00
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'- TGGGTATTCGCTCGCTAAC -3'
(R):5'- TACTGTACGAAAGCCTGGGG -3'

Sequencing Primer
(F):5'- GAGTTGATGTCAGAGCAG -3'
(R):5'- CCTCCTGAGTATTGCGATCAAAGG -3'

Posted On

2017-10-10