Mutagenetix > Incidental Mutations

Incidental Mutation 'R7405:Nup107'

574526

Institutional Source

Beutler Lab

Gene Symbol

Nup107

Ensembl Gene

ENSMUSG00000052798

Gene Name

nucleoporin 107

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117750621-117792705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117770415 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 474 (D474G)

Ref Sequence

ENSEMBL: ENSMUSP00000063590 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064848
AA Change: D474G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000063590
Gene: ENSMUSG00000052798
AA Change: D474G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167943
AA Change: D472G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000129546
Gene: ENSMUSG00000052798
AA Change: D472G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218576

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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. 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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,001,817	V383L	probably damaging	Het
1700012P22Rik	T	C	4: 144,419,753	N110S	probably damaging	Het
2410141K09Rik	T	C	13: 66,431,059	Q455R	unknown	Het
4930507D05Rik	C	A	10: 62,449,784	H96N	unknown	Het
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
5730480H06Rik	T	C	5: 48,388,116	I235T	possibly damaging	Het
Abcb11	A	G	2: 69,287,619	Y472H	probably damaging	Het
Adam39	A	T	8: 40,824,622	I17L	probably benign	Het
Aire	T	C	10: 78,034,613	H458R	probably benign	Het
Ap3d1	T	C	10: 80,741,900	D31G	probably benign	Het
Atad2b	T	A	12: 4,943,232	H250Q	probably benign	Het
Borcs5	C	A	6: 134,685,982	T74N	probably benign	Het
Btbd16	C	T	7: 130,805,856	T292I	probably benign	Het
Catsperd	G	A	17: 56,632,335	V55M	possibly damaging	Het
Ctr9	T	C	7: 111,043,714	F462S	possibly damaging	Het
Cyp4f39	A	G	17: 32,481,815	S153G	probably benign	Het
Ddo	T	C	10: 40,647,997	C328R	possibly damaging	Het
Ddr1	A	G	17: 35,690,100	V251A	probably damaging	Het
Dis3l	A	G	9: 64,314,704	F475L	probably damaging	Het
Dkk4	G	A	8: 22,625,843	V99M	probably benign	Het
Dync1h1	C	T	12: 110,634,220	A1938V	probably damaging	Het
Ecel1	A	T	1: 87,153,516		probably null	Het
Fbxo7	T	A	10: 86,044,581	Y377N	probably damaging	Het
Fbxw24	T	C	9: 109,607,068	I299V	possibly damaging	Het
Fkbp10	C	T	11: 100,415,881	A33V	probably damaging	Het
Gabra1	T	C	11: 42,155,023	T87A	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm884	A	T	11: 103,615,161	Y1994N	probably benign	Het
Golga3	A	T	5: 110,208,446	I1000F	probably damaging	Het
Grid2ip	T	C	5: 143,380,444	I563T	probably benign	Het
Gsx1	T	C	5: 147,189,133	S82P	possibly damaging	Het
Heg1	A	G	16: 33,763,449	K34E	possibly damaging	Het
Kank1	T	A	19: 25,410,319	L452*	probably null	Het
Lce1k	A	T	3: 92,806,874	M1K	probably null	Het
Lcmt2	A	G	2: 121,139,387	I185T	probably benign	Het
Lrp1	T	C	10: 127,581,751	D1046G	possibly damaging	Het
Mast3	A	T	8: 70,786,171	D496E	probably damaging	Het
Mst1r	C	T	9: 107,915,122	S925F	possibly damaging	Het
Mterf2	C	T	10: 85,120,496	G88D	probably damaging	Het
Mthfd1	T	C	12: 76,311,874	V783A	probably damaging	Het
Mybpc2	A	T	7: 44,507,194	W778R	probably damaging	Het
Nbea	A	G	3: 55,805,266	L2130P	possibly damaging	Het
Ndst4	A	G	3: 125,683,216	N30S	probably benign	Het
Nphs1	T	C	7: 30,462,828	V299A	possibly damaging	Het
Olfr1118	A	C	2: 87,308,995	I89L	probably benign	Het
Olfr1490	T	C	19: 13,654,882	V151A	probably benign	Het
Olfr225	T	A	11: 59,614,073	F370I	possibly damaging	Het
Olfr8	T	C	10: 78,955,697	V164A	probably benign	Het
Pgap2	T	C	7: 102,231,388	V41A	probably benign	Het
Plekhh1	C	T	12: 79,055,047	T297I	probably benign	Het
Plxna4	A	T	6: 32,196,319	Y1226N	probably benign	Het
Polr3b	A	G	10: 84,684,179	D653G	probably benign	Het
Ppp2r2c	T	C	5: 36,947,142	F289L	possibly damaging	Het
Prickle2	A	G	6: 92,458,543	S82P	probably damaging	Het
Ptger2	T	A	14: 44,989,074	V37D	probably damaging	Het
Rasa2	G	A	9: 96,566,027	P526S	probably benign	Het
Rbm47	A	T	5: 66,026,495	I255N	probably damaging	Het
Sez6	A	T	11: 77,962,891	T296S	probably benign	Het
Slc2a9	T	A	5: 38,391,824	I316F	probably damaging	Het
Slc41a1	T	A	1: 131,839,146	V134D	probably damaging	Het
Slc5a7	A	T	17: 54,297,133	S2T	probably benign	Het
Slc9a4	C	T	1: 40,600,926	R293C	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Suco	A	G	1: 161,828,214	F1039L	possibly damaging	Het
Sycp1	A	G	3: 102,925,227	Y208H	possibly damaging	Het
Tpr	T	C	1: 150,442,127	S2129P	probably benign	Het
Trim34b	T	A	7: 104,336,483	S442T	probably damaging	Het
Ttn	A	T	2: 76,743,346	Y25734*	probably null	Het
Uchl5	C	T	1: 143,800,014	Q276*	probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Yeats2	T	A	16: 20,222,913	D1184E	probably damaging	Het
Zfat	G	A	15: 68,184,485	R241W	probably damaging	Het
Zfp646	T	A	7: 127,878,796	Y48*	probably null	Het

Other mutations in Nup107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Nup107	APN	10	117763803	missense	probably damaging	1.00
IGL00595:Nup107	APN	10	117773352	nonsense	probably null
IGL00595:Nup107	APN	10	117773368	critical splice acceptor site	probably null
IGL01120:Nup107	APN	10	117770241	splice site	probably benign
IGL01420:Nup107	APN	10	117785021	missense	probably damaging	1.00
IGL01646:Nup107	APN	10	117781342	missense	probably damaging	1.00
IGL01748:Nup107	APN	10	117757274	missense	probably benign	0.06
IGL01755:Nup107	APN	10	117774493	missense	probably damaging	1.00
IGL01982:Nup107	APN	10	117759340	splice site	probably benign
IGL03394:Nup107	APN	10	117782028	missense	probably damaging	0.96
R0371:Nup107	UTSW	10	117763769	missense	probably damaging	0.98
R1036:Nup107	UTSW	10	117757294	missense	probably damaging	0.98
R1186:Nup107	UTSW	10	117777146	nonsense	probably null
R1538:Nup107	UTSW	10	117790494	missense	probably damaging	0.96
R1555:Nup107	UTSW	10	117751490	splice site	probably benign
R1570:Nup107	UTSW	10	117763844	missense	possibly damaging	0.49
R1758:Nup107	UTSW	10	117761343	missense	probably damaging	1.00
R1856:Nup107	UTSW	10	117750906	missense	probably damaging	1.00
R2105:Nup107	UTSW	10	117773320	missense	probably damaging	1.00
R2127:Nup107	UTSW	10	117774475	missense	possibly damaging	0.69
R4480:Nup107	UTSW	10	117761332	missense	probably benign	0.00
R4540:Nup107	UTSW	10	117762020	splice site	probably null
R4584:Nup107	UTSW	10	117766368	missense	probably benign	0.05
R4878:Nup107	UTSW	10	117751418	missense	probably benign	0.17
R4887:Nup107	UTSW	10	117770478	missense	probably damaging	1.00
R4921:Nup107	UTSW	10	117770511	missense	possibly damaging	0.95
R5960:Nup107	UTSW	10	117790010	missense	probably null
R5986:Nup107	UTSW	10	117759176	missense	probably damaging	1.00
R6947:Nup107	UTSW	10	117757274	missense	probably benign	0.06
R7092:Nup107	UTSW	10	117790494	missense	probably damaging	0.96
R7165:Nup107	UTSW	10	117773362	missense	probably damaging	0.98
R7190:Nup107	UTSW	10	117762135	missense	probably benign
R7331:Nup107	UTSW	10	117770198	missense	probably damaging	0.99
R7596:Nup107	UTSW	10	117777160	missense	probably damaging	1.00
R7644:Nup107	UTSW	10	117770470	missense	probably damaging	1.00
R7734:Nup107	UTSW	10	117758012	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTAAGGTCCAACTTCAAAAGAGG -3'
(R):5'- AGTGTCCCCTGTCATCAGAAG -3'

Sequencing Primer
(F):5'- ACAGAGATGACCACCTGAG -3'
(R):5'- CATCAGAAGATGGCTTTTGAAGTTTG -3'

Posted On

2019-09-13