Mutagenetix > Incidental Mutation

Incidental Mutation 'R9617:Nup107'

726525

Institutional Source

Beutler Lab

Gene Symbol

Nup107

Ensembl Gene

ENSMUSG00000052798

Gene Name

nucleoporin 107

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R9617 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117586526-117628607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117593238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 813 (D813E)

Ref Sequence

ENSEMBL: ENSMUSP00000063590 (fasta)

Gene Model

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

AlphaFold

Q8BH74

Predicted Effect

probably benign
Transcript: ENSMUST00000064848
AA Change: D813E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063590
Gene: ENSMUSG00000052798
AA Change: D813E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167943
AA Change: D811E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129546
Gene: ENSMUSG00000052798
AA Change: D811E

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	C	T	3: 68,777,402 (GRCm39)	P121L	probably damaging	Het
4930442H23Rik	C	T	10: 81,018,976 (GRCm39)	V16I	unknown	Het
4930444P10Rik	T	C	1: 16,139,051 (GRCm39)	M97V	probably benign	Het
Abcb1a	A	T	5: 8,797,353 (GRCm39)		probably null	Het
Abhd5	T	C	9: 122,197,035 (GRCm39)	I74T	probably benign	Het
Ankle2	T	A	5: 110,399,409 (GRCm39)	F590I	probably damaging	Het
C2cd6	T	C	1: 59,097,848 (GRCm39)	S414G	probably benign	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cep295nl	G	T	11: 118,224,000 (GRCm39)	H281Q	possibly damaging	Het
Cfap69	T	C	5: 5,639,164 (GRCm39)	E670G	probably damaging	Het
Cfh	A	T	1: 140,090,718 (GRCm39)	V90E	possibly damaging	Het
Cnksr3	A	C	10: 7,079,021 (GRCm39)		probably null	Het
Cntrl	T	A	2: 35,035,077 (GRCm39)	F901L	probably benign	Het
Coch	T	A	12: 51,645,034 (GRCm39)	M196K	probably damaging	Het
Crygd	T	C	1: 65,102,369 (GRCm39)	N34S	probably damaging	Het
Ctdp1	A	T	18: 80,492,962 (GRCm39)	I511N	probably benign	Het
Dhx30	C	T	9: 109,926,186 (GRCm39)	A142T	probably damaging	Het
Dlg2	T	C	7: 92,087,284 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 49,998,228 (GRCm39)	D776G	probably damaging	Het
Dnm3	C	T	1: 162,149,354 (GRCm39)	G197D	probably damaging	Het
Eif4g3	A	G	4: 137,824,190 (GRCm39)	H91R	probably damaging	Het
Ephb6	A	G	6: 41,596,258 (GRCm39)	M844V	probably damaging	Het
Erc1	T	C	6: 119,773,902 (GRCm39)	E351G	probably benign	Het
Etfbkmt	G	A	6: 149,045,744 (GRCm39)	G33R	probably benign	Het
Fnbp4	T	C	2: 90,588,738 (GRCm39)	I503T	probably benign	Het
Gm6370	A	T	5: 146,429,993 (GRCm39)	Q143L	probably benign	Het
Gnas	T	C	2: 174,141,988 (GRCm39)	V719A	possibly damaging	Het
H13	C	A	2: 152,530,873 (GRCm39)	D219E	probably damaging	Het
Hhatl	G	A	9: 121,618,191 (GRCm39)	T188I	possibly damaging	Het
Ifi27l2b	C	T	12: 103,422,683 (GRCm39)	A45T	probably damaging	Het
Kbtbd8	T	C	6: 95,103,874 (GRCm39)	C585R	possibly damaging	Het
Limk2	A	G	11: 3,297,715 (GRCm39)	S473P	probably damaging	Het
Lrba	G	A	3: 86,267,169 (GRCm39)	G1620S	probably benign	Het
Lrrtm2	T	C	18: 35,346,490 (GRCm39)	T271A	probably benign	Het
Map3k4	A	G	17: 12,476,871 (GRCm39)	S759P	possibly damaging	Het
Mybphl	G	T	3: 108,282,952 (GRCm39)	V247F	possibly damaging	Het
Myh10	T	A	11: 68,682,815 (GRCm39)	V1120D	probably benign	Het
Naip1	T	C	13: 100,569,821 (GRCm39)	N271S	probably benign	Het
Napepld	C	T	5: 21,875,561 (GRCm39)	V328I	probably damaging	Het
Nucb1	A	G	7: 45,148,159 (GRCm39)	V218A	probably benign	Het
Or14j3	T	A	17: 37,901,053 (GRCm39)	K64*	probably null	Het
Or5g29	T	A	2: 85,421,279 (GRCm39)	Y132N	probably damaging	Het
Or6c35	A	T	10: 129,168,794 (GRCm39)	T15S	probably damaging	Het
Or8g52	A	G	9: 39,630,678 (GRCm39)	S52G	possibly damaging	Het
Pabpc2	T	C	18: 39,907,602 (GRCm39)	I289T	probably benign	Het
Parg	A	G	14: 31,960,569 (GRCm39)	I600V	probably benign	Het
Patj	T	C	4: 98,393,991 (GRCm39)	F975L	probably benign	Het
Pcdhb17	A	G	18: 37,618,218 (GRCm39)	T3A	probably benign	Het
Piezo2	T	C	18: 63,248,108 (GRCm39)	E464G	probably benign	Het
Pkd1	T	A	17: 24,800,341 (GRCm39)	V3034D	probably damaging	Het
Pld2	A	G	11: 70,447,944 (GRCm39)	E869G	probably damaging	Het
Plek	T	A	11: 16,945,311 (GRCm39)	L29F	possibly damaging	Het
Prelp	A	G	1: 133,842,416 (GRCm39)	L243P	probably damaging	Het
Rapgef5	T	A	12: 117,621,930 (GRCm39)	D231E	probably benign	Het
Riok1	A	G	13: 38,244,016 (GRCm39)	E514G	probably benign	Het
Rmdn2	T	C	17: 79,928,790 (GRCm39)	M14T	probably benign	Het
Rorb	G	A	19: 18,939,499 (GRCm39)	Q228*	probably null	Het
Scmh1	T	A	4: 120,340,827 (GRCm39)	M171K	probably damaging	Het
Scn9a	A	G	2: 66,392,809 (GRCm39)	L261P	probably damaging	Het
Senp7	A	T	16: 55,971,652 (GRCm39)	N263I	probably benign	Het
Slc11a1	G	T	1: 74,419,041 (GRCm39)	A162S	probably benign	Het
Slc6a17	A	G	3: 107,384,685 (GRCm39)	V305A	probably damaging	Het
Snph	A	T	2: 151,435,422 (GRCm39)	V502E	probably damaging	Het
Sost	G	T	11: 101,854,892 (GRCm39)	A139E	possibly damaging	Het
Srp54a	A	T	12: 55,136,061 (GRCm39)	E25D	probably benign	Het
Tmeff1	T	A	4: 48,636,940 (GRCm39)	C213S	probably damaging	Het
Tmem232	A	T	17: 65,807,180 (GRCm39)	Y4*	probably null	Het
Tmem63c	T	G	12: 87,103,361 (GRCm39)	I45S	probably benign	Het
Ttbk1	C	T	17: 46,757,998 (GRCm39)	G879S	probably damaging	Het
Ugt1a7c	A	G	1: 88,022,952 (GRCm39)	H37R	probably damaging	Het
Vmn1r236	T	C	17: 21,507,053 (GRCm39)	L57P	probably damaging	Het
Wnk2	T	A	13: 49,192,453 (GRCm39)	E675V	unknown	Het
Wnt10b	T	C	15: 98,674,609 (GRCm39)	T43A	probably damaging	Het
Wnt8a	C	A	18: 34,680,163 (GRCm39)	T176K	probably benign	Het
Zfp937	T	A	2: 150,080,452 (GRCm39)	C161S	probably 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
R4584:Nup107	UTSW	10	117,602,273 (GRCm39)	missense	probably benign	0.05
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
R9668:Nup107	UTSW	10	117,610,383 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACTTGTGTTGGTACCCATCTG -3'
(R):5'- AAGCAAGCAAGCCTTTAGACAATAG -3'

Sequencing Primer
(F):5'- ACATTTGCAGAAGTCGGCTC -3'
(R):5'- GCAAGCCTTTAGACAATAGTAGTC -3'

Posted On

2022-10-06