Mutagenetix > Incidental Mutation

Incidental Mutation 'R4584:Nup107'

343933

Institutional Source

Beutler Lab

Gene Symbol

Nup107

Ensembl Gene

ENSMUSG00000052798

Gene Name

nucleoporin 107

Synonyms

MMRRC Submission

041805-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117586526-117628607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117602273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 513 (I513M)

Ref Sequence

ENSEMBL: ENSMUSP00000129546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064848] [ENSMUST00000167943] [ENSMUST00000218576]

AlphaFold

Q8BH74

Predicted Effect

probably benign
Transcript: ENSMUST00000064848
AA Change: I515M

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000063590
Gene: ENSMUSG00000052798
AA Change: I515M

Domain	Start	End	E-Value	Type
Pfam:Nup84_Nup100	210	909	2.2e-218	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167943
AA Change: I513M

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129546
Gene: ENSMUSG00000052798
AA Change: I513M

Domain	Start	End	E-Value	Type
Pfam:Nup84_Nup100	206	909	2.4e-226	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218576

Meta Mutation Damage Score

0.1370

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (86/89)

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. The protein is localized to the nuclear rim and is an essential 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 of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a CRISPR-generated allele exhibit reduced female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,886,756 (GRCm39)	N343D	probably damaging	Het
9530002B09Rik	T	A	4: 122,594,979 (GRCm39)	D78E	possibly damaging	Het
A2m	C	A	6: 121,634,365 (GRCm39)	D632E	probably benign	Het
Alpk2	A	G	18: 65,440,035 (GRCm39)	S453P	probably damaging	Het
Birc2	A	T	9: 7,833,675 (GRCm39)	F269I	probably damaging	Het
Ccdc66	G	A	14: 27,222,468 (GRCm39)	P92S	probably benign	Het
Cdc34	T	A	10: 79,523,869 (GRCm39)	D108E	possibly damaging	Het
Cdk5rap2	A	C	4: 70,184,997 (GRCm39)	V1151G	probably damaging	Het
Cemip	T	C	7: 83,607,747 (GRCm39)	K753R	probably damaging	Het
Cep295	A	T	9: 15,246,095 (GRCm39)	L787Q	possibly damaging	Het
Cideb	T	C	14: 55,995,727 (GRCm39)	N8S	probably benign	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapl1	C	A	2: 59,335,086 (GRCm39)	T80K	possibly damaging	Het
Ddx6	T	C	9: 44,535,784 (GRCm39)	V171A	probably damaging	Het
Dnah12	C	A	14: 26,494,551 (GRCm39)	T34K	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Ep400	T	A	5: 110,881,763 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,057,758 (GRCm39)	Y22*	probably null	Het
Gmcl1	A	G	6: 86,699,605 (GRCm39)	S141P	probably damaging	Het
Gtf2a1	C	T	12: 91,529,700 (GRCm39)	V338I	possibly damaging	Het
H2-T15	A	T	17: 36,368,559 (GRCm39)	M123K	probably damaging	Het
Ighv1-66	T	A	12: 115,557,016 (GRCm39)	Q22L	possibly damaging	Het
Igkv4-80	T	C	6: 68,993,720 (GRCm39)	Y57C	probably damaging	Het
Itpk1	G	A	12: 102,536,416 (GRCm39)	A410V	possibly damaging	Het
Itsn1	T	A	16: 91,617,471 (GRCm39)		probably benign	Het
Kcnk3	G	T	5: 30,745,730 (GRCm39)	A24S	probably damaging	Het
Kif20a	A	G	18: 34,765,664 (GRCm39)	Y887C	probably damaging	Het
Klf13	T	C	7: 63,587,718 (GRCm39)	T193A	possibly damaging	Het
Klhl9	G	T	4: 88,640,144 (GRCm39)	H32Q	probably damaging	Het
Kndc1	C	G	7: 139,481,159 (GRCm39)	P82A	probably damaging	Het
Llgl1	T	A	11: 60,602,908 (GRCm39)	L861Q	probably damaging	Het
Lpcat2	A	G	8: 93,615,999 (GRCm39)	E305G	probably damaging	Het
Mib2	C	A	4: 155,741,744 (GRCm39)	A293S	probably damaging	Het
Mtfr1	A	G	3: 19,269,766 (GRCm39)	E138G	probably damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ninj1	T	A	13: 49,347,442 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,725,104 (GRCm39)	V54E	possibly damaging	Het
Nlrc5	A	C	8: 95,203,903 (GRCm39)	I668L	probably damaging	Het
Npy6r	T	A	18: 44,409,262 (GRCm39)	C228S	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Oit3	T	C	10: 59,261,284 (GRCm39)	D461G	probably damaging	Het
Or2ab1	T	A	11: 58,488,830 (GRCm39)	F205I	probably benign	Het
Paxbp1	T	C	16: 90,831,011 (GRCm39)	D455G	probably damaging	Het
Pcdh7	A	T	5: 57,878,625 (GRCm39)	T727S	probably damaging	Het
Pex14	G	A	4: 149,055,053 (GRCm39)	A113V	probably damaging	Het
Phc3	A	G	3: 31,020,031 (GRCm39)	V23A	possibly damaging	Het
Plec	T	C	15: 76,115,406 (GRCm39)	D56G	possibly damaging	Het
Plekha7	C	A	7: 115,836,768 (GRCm39)		probably benign	Het
Prdm16	T	C	4: 154,422,140 (GRCm39)	E885G	probably damaging	Het
Prss1l	T	C	6: 41,373,701 (GRCm39)	L188P	probably benign	Het
Psd2	A	G	18: 36,145,881 (GRCm39)	T762A	probably benign	Het
Psme4	T	A	11: 30,784,318 (GRCm39)	H964Q	probably damaging	Het
Rbak	C	T	5: 143,161,878 (GRCm39)	V51I	probably benign	Het
Rbfa	A	G	18: 80,243,721 (GRCm39)	L15P	probably benign	Het
Ren1	T	C	1: 133,282,546 (GRCm39)	Y84H	probably damaging	Het
Rps6ka5	A	T	12: 100,547,577 (GRCm39)	I311N	probably damaging	Het
Samd14	T	A	11: 94,912,361 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,026,403 (GRCm39)		probably benign	Het
Serpina12	A	T	12: 104,004,611 (GRCm39)	L7Q	unknown	Het
Serpinb9d	A	T	13: 33,384,599 (GRCm39)	E192V	probably damaging	Het
Slc22a29	A	T	19: 8,146,655 (GRCm39)	F382L	probably benign	Het
Snta1	T	A	2: 154,220,035 (GRCm39)	D375V	probably benign	Het
Stat5b	T	A	11: 100,678,064 (GRCm39)	Y683F	probably damaging	Het
Strip1	A	T	3: 107,531,819 (GRCm39)	Y257N	probably benign	Het
Sugp2	A	G	8: 70,704,548 (GRCm39)	H695R	probably benign	Het
Svep1	T	A	4: 58,068,526 (GRCm39)	R3087*	probably null	Het
Syngr2	T	C	11: 117,703,947 (GRCm39)	V138A	probably damaging	Het
Thra	T	C	11: 98,655,310 (GRCm39)	F397L	probably benign	Het
Tmem45b	T	A	9: 31,339,951 (GRCm39)	I149F	probably damaging	Het
Tmprss11f	C	T	5: 86,687,553 (GRCm39)		probably null	Het
Ush2a	C	T	1: 188,183,995 (GRCm39)	T1433I	probably benign	Het
Vmn2r109	A	T	17: 20,774,820 (GRCm39)	Y178*	probably null	Het
Vmn2r84	T	G	10: 130,226,582 (GRCm39)	M419L	probably benign	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zfp268	T	A	4: 145,343,747 (GRCm39)		probably null	Het
Zfp276	A	G	8: 123,995,145 (GRCm39)		probably benign	Het
Zfp568	T	G	7: 29,697,617 (GRCm39)	F100V	probably benign	Het
Zfp667	T	A	7: 6,293,624 (GRCm39)	D41E	possibly damaging	Het

Other mutations in Nup107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Nup107	APN	10	117,599,708 (GRCm39)	missense	probably damaging	1.00
IGL00595:Nup107	APN	10	117,609,273 (GRCm39)	critical splice acceptor site	probably null
IGL00595:Nup107	APN	10	117,609,257 (GRCm39)	nonsense	probably null
IGL01120:Nup107	APN	10	117,606,146 (GRCm39)	splice site	probably benign
IGL01420:Nup107	APN	10	117,620,926 (GRCm39)	missense	probably damaging	1.00
IGL01646:Nup107	APN	10	117,617,247 (GRCm39)	missense	probably damaging	1.00
IGL01748:Nup107	APN	10	117,593,179 (GRCm39)	missense	probably benign	0.06
IGL01755:Nup107	APN	10	117,610,398 (GRCm39)	missense	probably damaging	1.00
IGL01982:Nup107	APN	10	117,595,245 (GRCm39)	splice site	probably benign
IGL03394:Nup107	APN	10	117,617,933 (GRCm39)	missense	probably damaging	0.96
R0371:Nup107	UTSW	10	117,599,674 (GRCm39)	missense	probably damaging	0.98
R1036:Nup107	UTSW	10	117,593,199 (GRCm39)	missense	probably damaging	0.98
R1186:Nup107	UTSW	10	117,613,051 (GRCm39)	nonsense	probably null
R1538:Nup107	UTSW	10	117,626,399 (GRCm39)	missense	probably damaging	0.96
R1555:Nup107	UTSW	10	117,587,395 (GRCm39)	splice site	probably benign
R1570:Nup107	UTSW	10	117,599,749 (GRCm39)	missense	possibly damaging	0.49
R1758:Nup107	UTSW	10	117,597,248 (GRCm39)	missense	probably damaging	1.00
R1856:Nup107	UTSW	10	117,586,811 (GRCm39)	missense	probably damaging	1.00
R2105:Nup107	UTSW	10	117,609,225 (GRCm39)	missense	probably damaging	1.00
R2127:Nup107	UTSW	10	117,610,380 (GRCm39)	missense	possibly damaging	0.69
R4480:Nup107	UTSW	10	117,597,237 (GRCm39)	missense	probably benign	0.00
R4540:Nup107	UTSW	10	117,597,925 (GRCm39)	splice site	probably null
R4878:Nup107	UTSW	10	117,587,323 (GRCm39)	missense	probably benign	0.17
R4887:Nup107	UTSW	10	117,606,383 (GRCm39)	missense	probably damaging	1.00
R4921:Nup107	UTSW	10	117,606,416 (GRCm39)	missense	possibly damaging	0.95
R5960:Nup107	UTSW	10	117,625,915 (GRCm39)	missense	probably null
R5986:Nup107	UTSW	10	117,595,081 (GRCm39)	missense	probably damaging	1.00
R6947:Nup107	UTSW	10	117,593,179 (GRCm39)	missense	probably benign	0.06
R7092:Nup107	UTSW	10	117,626,399 (GRCm39)	missense	probably damaging	0.96
R7165:Nup107	UTSW	10	117,609,267 (GRCm39)	missense	probably damaging	0.98
R7190:Nup107	UTSW	10	117,598,040 (GRCm39)	missense	probably benign
R7331:Nup107	UTSW	10	117,606,103 (GRCm39)	missense	probably damaging	0.99
R7405:Nup107	UTSW	10	117,606,320 (GRCm39)	missense	probably benign	0.02
R7596:Nup107	UTSW	10	117,613,065 (GRCm39)	missense	probably damaging	1.00
R7644:Nup107	UTSW	10	117,606,375 (GRCm39)	missense	probably damaging	1.00
R7734:Nup107	UTSW	10	117,593,917 (GRCm39)	nonsense	probably null
R7918:Nup107	UTSW	10	117,617,905 (GRCm39)	missense	probably benign	0.00
R7998:Nup107	UTSW	10	117,593,899 (GRCm39)	missense	probably damaging	1.00
R8060:Nup107	UTSW	10	117,599,674 (GRCm39)	missense	probably damaging	0.98
R8209:Nup107	UTSW	10	117,593,836 (GRCm39)	missense	probably benign	0.19
R8226:Nup107	UTSW	10	117,593,836 (GRCm39)	missense	probably benign	0.19
R8470:Nup107	UTSW	10	117,606,374 (GRCm39)	missense	probably damaging	1.00
R9358:Nup107	UTSW	10	117,586,868 (GRCm39)	missense	probably damaging	1.00
R9617:Nup107	UTSW	10	117,593,238 (GRCm39)	missense	probably benign
R9668:Nup107	UTSW	10	117,610,383 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACTCAGATTTGGCCTCACAG -3'
(R):5'- GGAGATATCGCTCAGTTCTGGG -3'

Sequencing Primer
(F):5'- GATTTGGCCTCACAGTAACAAG -3'
(R):5'- ATAGATCCTAAAGGCCTAGTCCTTC -3'

Posted On

2015-09-24