Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Nup107'

230884

Institutional Source

Beutler Lab

Gene Symbol

Nup107

Ensembl Gene

ENSMUSG00000052798

Gene Name

nucleoporin 107

Synonyms

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117750621-117792705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117773320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 378 (T378I)

Ref Sequence

ENSEMBL: ENSMUSP00000063590 (fasta)

Gene Model

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

AlphaFold

Q8BH74

Predicted Effect

probably damaging
Transcript: ENSMUST00000064848
AA Change: T378I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063590
Gene: ENSMUSG00000052798
AA Change: T378I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167943
AA Change: T376I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129546
Gene: ENSMUSG00000052798
AA Change: T376I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220323

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		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
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
R7405:Nup107	UTSW	10	117770415	missense	probably benign	0.02
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
R7918:Nup107	UTSW	10	117782000	missense	probably benign	0.00
R7998:Nup107	UTSW	10	117757994	missense	probably damaging	1.00
R8060:Nup107	UTSW	10	117763769	missense	probably damaging	0.98
R8209:Nup107	UTSW	10	117757931	missense	probably benign	0.19
R8226:Nup107	UTSW	10	117757931	missense	probably benign	0.19
R8470:Nup107	UTSW	10	117770469	missense	probably damaging	1.00
R9358:Nup107	UTSW	10	117750963	missense	probably damaging	1.00
R9617:Nup107	UTSW	10	117757333	missense	probably benign
R9668:Nup107	UTSW	10	117774478	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTCTAGCTCTGTCCCTACAAAACAG -3'
(R):5'- TGGGACACCATTGCCAGTTG -3'

Sequencing Primer
(F):5'- TCTGTCCCTACAAAACAGTAAAGGG -3'
(R):5'- ACCATTGCCAGTTGCCTCTG -3'

Posted On

2014-09-18