Mutagenetix > Incidental Mutation

Incidental Mutation 'R0371:Nup107'

30483

Institutional Source

Beutler Lab

Gene Symbol

Nup107

Ensembl Gene

ENSMUSG00000052798

Gene Name

nucleoporin 107

Synonyms

MMRRC Submission

038577-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0371 (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 117599674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 615 (E615G)

Ref Sequence

ENSEMBL: ENSMUSP00000129546 (fasta)

Gene Model

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

AlphaFold

Q8BH74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064848
AA Change: E617G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063590
Gene: ENSMUSG00000052798
AA Change: E617G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167943
AA Change: E615G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129546
Gene: ENSMUSG00000052798
AA Change: E615G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218375

Predicted Effect

probably benign
Transcript: ENSMUST00000218576

Meta Mutation Damage Score

0.4505

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,105,911 (GRCm39)	R1068C	probably benign	Het
Afmid	C	T	11: 117,725,966 (GRCm39)		probably benign	Het
Aqr	A	G	2: 113,988,085 (GRCm39)	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033 (GRCm39)	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,600,031 (GRCm39)	V178A	probably damaging	Het
Ccdc110	T	A	8: 46,395,843 (GRCm39)	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,398,674 (GRCm39)	E51*	probably null	Het
Cep290	T	A	10: 100,354,426 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,334,256 (GRCm39)	E914G	probably damaging	Het
Col6a2	T	C	10: 76,450,307 (GRCm39)	N208S	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,183,880 (GRCm39)	R229G	probably damaging	Het
Dach1	C	T	14: 98,207,339 (GRCm39)	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,271,186 (GRCm39)	N321S	probably benign	Het
Enpep	C	T	3: 129,077,516 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,404,929 (GRCm39)	L560P	probably damaging	Het
Fdxr	T	C	11: 115,166,915 (GRCm39)	H58R	possibly damaging	Het
Filip1	G	T	9: 79,767,373 (GRCm39)	P147T	probably damaging	Het
Fras1	G	A	5: 96,703,190 (GRCm39)	E318K	possibly damaging	Het
Grk2	T	C	19: 4,341,614 (GRCm39)		probably null	Het
Gvin-ps6	A	T	7: 106,021,986 (GRCm39)	C339S	unknown	Het
Havcr1	T	C	11: 46,643,416 (GRCm39)	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ildr2	G	A	1: 166,131,133 (GRCm39)	V330I	probably damaging	Het
Ino80d	T	C	1: 63,097,115 (GRCm39)		probably benign	Het
Iqsec1	A	G	6: 90,647,385 (GRCm39)		probably benign	Het
Irf2bpl	C	T	12: 86,928,417 (GRCm39)	W752*	probably null	Het
Kdr	T	A	5: 76,102,494 (GRCm39)	H1211L	probably benign	Het
Klri2	A	G	6: 129,709,106 (GRCm39)	*249R	probably null	Het
Ktn1	A	T	14: 47,961,460 (GRCm39)	K1054*	probably null	Het
Lactb2	A	G	1: 13,720,984 (GRCm39)	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560 (GRCm38)	C15*	probably null	Het
Mrs2	T	C	13: 25,177,078 (GRCm39)	I430V	probably benign	Het
Myo3b	C	T	2: 70,083,304 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,381,096 (GRCm39)	T696I	probably damaging	Het
Nsun6	T	C	2: 15,034,898 (GRCm39)	D240G	probably damaging	Het
Or2a25	A	T	6: 42,888,872 (GRCm39)	R138S	probably benign	Het
Or3a1d	T	A	11: 74,237,760 (GRCm39)	I217F	probably damaging	Het
Or4k77	A	T	2: 111,199,498 (GRCm39)	I174L	probably benign	Het
Or5ac23	A	G	16: 59,149,585 (GRCm39)	C96R	possibly damaging	Het
Pabpc1l	G	A	2: 163,877,192 (GRCm39)	V256M	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sik1	T	C	17: 32,067,958 (GRCm39)	D409G	probably benign	Het
Slc22a22	A	T	15: 57,113,131 (GRCm39)	D369E	possibly damaging	Het
Smg1	T	A	7: 117,767,523 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,224,067 (GRCm39)	D27E	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorcs3	A	G	19: 48,592,333 (GRCm39)	I333V	probably benign	Het
Spag7	A	G	11: 70,555,622 (GRCm39)	M105T	probably damaging	Het
Srgap3	A	T	6: 112,748,432 (GRCm39)	S407T	probably damaging	Het
Supt6	T	C	11: 78,113,983 (GRCm39)	N854S	probably benign	Het
Syne2	T	C	12: 75,980,619 (GRCm39)	S1460P	probably damaging	Het
Taok3	C	T	5: 117,344,752 (GRCm39)	Q160*	probably null	Het
Tchhl1	C	A	3: 93,376,884 (GRCm39)	A27E	probably damaging	Het
Tet1	T	C	10: 62,714,178 (GRCm39)	D539G	probably damaging	Het
Tut1	T	C	19: 8,940,137 (GRCm39)	F374L	probably damaging	Het
Unc5c	C	T	3: 141,533,283 (GRCm39)	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,810,394 (GRCm39)	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,477,556 (GRCm39)	H285L	probably benign	Het
Wdr62	G	A	7: 29,941,583 (GRCm39)	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,679,549 (GRCm39)	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190 (GRCm39)	N106S	probably damaging	Het
Zfp345	G	T	2: 150,313,983 (GRCm39)	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,080,413 (GRCm39)	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,710,844 (GRCm39)	E89K	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
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
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'- GCACCTATGCCTGAGCAGATTCTC -3'
(R):5'- GAAGCACAGGTTTCTCAAAACACCG -3'

Sequencing Primer
(F):5'- agctgtcttcagacacacc -3'
(R):5'- CACAAGCCTCATAGCGTTCT -3'

Posted On

2013-04-24