Mutagenetix > Incidental Mutations

Incidental Mutation 'R6980:Nup210l'

543744

Institutional Source

Beutler Lab

Gene Symbol

Nup210l

Ensembl Gene

ENSMUSG00000027939

Gene Name

nucleoporin 210-like

Synonyms

4930548O11Rik, R26-EGFP, Tg(Gt(ROSA)26Sor-EGFP)130910Eps

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.412) question?

Stock #

R6980 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90104132-90212048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90119927 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 205 (K205N)

Ref Sequence

ENSEMBL: ENSMUSP00000143368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029548] [ENSMUST00000200410]

Predicted Effect

probably benign
Transcript: ENSMUST00000029548
AA Change: K205N

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: K205N

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
BID_2	457	536	2.05e1	SMART
Blast:S1	949	1023	2e-16	BLAST
BID_2	1077	1152	4.51e-11	SMART
Blast:BID_2	1468	1550	7e-15	BLAST
transmembrane domain	1807	1829	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200410
AA Change: K205N

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: K205N

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
BID_2	457	536	6.9e-2	SMART
Blast:S1	938	1023	9e-17	BLAST
BID_2	1077	1152	1.5e-13	SMART
Blast:BID_2	1468	1550	7e-15	BLAST
transmembrane domain	1807	1829	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgene insertion exhibit male infertility, asthenozoospermia, teratozoospermia, azoospermia, and seminiferous tubule degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	A	2: 25,440,866	R1189S	possibly damaging	Het
Abcf2	T	C	5: 24,565,972	Q594R	probably benign	Het
Abhd18	G	A	3: 40,933,780	S353N	probably benign	Het
Adrb1	G	T	19: 56,723,614	A415S	probably benign	Het
Art2b	T	C	7: 101,580,473	N73S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139		probably benign	Het
BC028528	CACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGT	3: 95,888,168		probably benign	Het
Cacna1a	A	G	8: 84,612,285	M1753V	possibly damaging	Het
Cbx8	A	T	11: 119,039,461	I102N	possibly damaging	Het
Ccdc178	T	A	18: 22,105,563	E332D	probably benign	Het
Cfap74	G	A	4: 155,466,352		probably benign	Het
Chat	A	T	14: 32,424,154	M354K	probably benign	Het
Cmas	A	G	6: 142,756,800	T10A	probably damaging	Het
Cyb561d1	A	T	3: 108,200,159	L51H	probably benign	Het
D030056L22Rik	A	T	19: 18,717,265	N128I	probably damaging	Het
D130043K22Rik	G	T	13: 24,864,781	A423S	probably damaging	Het
Dnah14	T	C	1: 181,648,230	I1349T	probably benign	Het
Dnajb3	T	G	1: 88,205,014	D222A	probably damaging	Het
Dtx1	T	C	5: 120,681,357	E592G	probably damaging	Het
Dzank1	C	T	2: 144,490,136	G427R	possibly damaging	Het
E130308A19Rik	A	C	4: 59,719,991	K508Q	probably damaging	Het
Eif4e1b	T	A	13: 54,784,103		probably null	Het
Ell2	A	G	13: 75,756,376	M159V	probably null	Het
Eml4	G	A	17: 83,451,017	V377I	probably benign	Het
Fryl	A	T	5: 73,050,430	S2466T	probably benign	Het
Gfpt1	C	A	6: 87,077,089	T426K	probably damaging	Het
Gm28710	T	A	5: 16,826,946	V533D	possibly damaging	Het
Gm49355	T	C	14: 12,307,173		probably benign	Het
Gm5114	T	C	7: 39,409,200	I332V	probably benign	Het
Gpr15	T	A	16: 58,718,742		probably benign	Het
Gpr179	T	C	11: 97,334,858	E2157G	probably benign	Het
Gramd4	A	G	15: 86,131,969	N482S	probably benign	Het
Hfm1	A	T	5: 106,880,477	I829K	probably benign	Het
Hydin	A	T	8: 110,413,284	E728D	possibly damaging	Het
Ifngr2	T	A	16: 91,560,007	V143E	probably damaging	Het
Ift172	T	C	5: 31,257,386	D1390G	probably benign	Het
Kdf1	A	T	4: 133,528,827	D285V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mdn1	G	A	4: 32,726,942		probably null	Het
Megf11	A	G	9: 64,705,850	E1016G	probably damaging	Het
Mixl1	G	A	1: 180,696,888	A42V	possibly damaging	Het
Mpp2	A	G	11: 102,059,328	W567R	probably damaging	Het
Mrgpra6	A	G	7: 47,188,949	L136P	probably damaging	Het
Mroh7	T	A	4: 106,700,237	I759L	probably benign	Het
Nrxn2	A	G	19: 6,450,579	D277G	probably benign	Het
Olfr1040	A	T	2: 86,146,337	Y132*	probably null	Het
Olfr1284	A	G	2: 111,379,275	I92V	possibly damaging	Het
Olfr475-ps1	A	G	2: 88,623,595	*97W	probably null	Het
Olfr603	T	C	7: 103,383,096	E302G	probably benign	Het
Oxnad1	C	T	14: 32,085,619		probably benign	Het
Pamr1	C	T	2: 102,642,204	T616I	probably benign	Het
Pcdhgb5	C	T	18: 37,733,539	H796Y	possibly damaging	Het
Pdlim7	G	T	13: 55,508,228	D126E	probably benign	Het
Pfdn2	C	T	1: 171,357,897		probably benign	Het
Piezo2	T	A	18: 63,082,961		probably null	Het
Pms2	A	T	5: 143,912,024	I43L	probably benign	Het
Prex2	T	A	1: 11,162,263	S851R	probably benign	Het
Ptpn4	T	A	1: 119,743,421	E202D	possibly damaging	Het
Rnf40	T	A	7: 127,594,677	V455E	probably damaging	Het
Rp1l1	A	G	14: 64,028,720	N585S	probably benign	Het
Rrp12	A	G	19: 41,890,143	S188P	probably damaging	Het
Rsbn1l	T	A	5: 20,896,484	H686L	probably benign	Het
Runx2	C	T	17: 44,735,316	V107I	possibly damaging	Het
Rusc2	A	G	4: 43,422,846	I994M	probably benign	Het
Ryr1	T	A	7: 29,109,387	D420V	probably benign	Het
Sash1	T	C	10: 8,729,848	Q926R	probably benign	Het
Scgb3a2	T	A	18: 43,764,434	I6N	probably damaging	Het
Sdc3	T	A	4: 130,816,922		probably benign	Het
Sik2	A	G	9: 50,897,455	V658A	probably benign	Het
Slc25a39	A	G	11: 102,405,775	V81A	probably damaging	Het
Snai2	T	A	16: 14,708,249	S255T	possibly damaging	Het
Sorbs1	A	T	19: 40,327,616	Y371*	probably null	Het
Spata31d1b	A	T	13: 59,715,422	H128L	probably benign	Het
Spdl1	A	T	11: 34,830,879	M1K	probably null	Het
Tgm3	T	A	2: 130,026,777	N211K	probably benign	Het
Tmem116	T	C	5: 121,467,987		probably null	Het
Tmem132e	T	A	11: 82,438,386		probably null	Het
Tmem53	T	C	4: 117,268,508	C251R	probably damaging	Het
Trcg1	A	C	9: 57,245,573	D551A	probably damaging	Het
Trp63	T	A	16: 25,802,093	F12I	probably benign	Het
Ttn	C	T	2: 76,879,057		probably null	Het
Tubgcp4	T	C	2: 121,195,465	V596A	probably benign	Het
Ugt2a3	A	C	5: 87,325,632	H475Q	probably damaging	Het
Unc79	G	A	12: 103,059,500	R382K	probably damaging	Het
Vmn2r58	T	C	7: 41,864,238	H327R	possibly damaging	Het
Vmn2r7	G	A	3: 64,716,566	T111I	possibly damaging	Het
Zfp318	T	A	17: 46,397,212	Y399N	probably damaging	Het

Other mutations in Nup210l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Nup210l	APN	3	90190849	splice site	probably benign
IGL00813:Nup210l	APN	3	90132418	missense	probably benign	0.00
IGL01375:Nup210l	APN	3	90159893	missense	probably damaging	0.96
IGL01731:Nup210l	APN	3	90154566	missense	probably damaging	1.00
IGL01786:Nup210l	APN	3	90122776	nonsense	probably null
IGL01958:Nup210l	APN	3	90203924	missense	possibly damaging	0.74
IGL02094:Nup210l	APN	3	90180213	critical splice donor site	probably null
IGL02120:Nup210l	APN	3	90136862	missense	probably damaging	1.00
IGL02313:Nup210l	APN	3	90122792	missense	probably damaging	1.00
IGL02336:Nup210l	APN	3	90181552	critical splice donor site	probably null
IGL02348:Nup210l	APN	3	90104164	utr 5 prime	probably benign
IGL02372:Nup210l	APN	3	90201971	missense	possibly damaging	0.80
IGL02557:Nup210l	APN	3	90124230	missense	probably damaging	1.00
IGL02559:Nup210l	APN	3	90159953	missense	probably benign	0.02
IGL02738:Nup210l	APN	3	90136850	missense	possibly damaging	0.80
IGL03231:Nup210l	APN	3	90189545	missense	probably damaging	1.00
IGL03257:Nup210l	APN	3	90180148	critical splice acceptor site	probably null
IGL03388:Nup210l	APN	3	90170044	missense	probably damaging	1.00
IGL03134:Nup210l	UTSW	3	90190887	missense	possibly damaging	0.85
R0003:Nup210l	UTSW	3	90119911	missense	probably damaging	1.00
R0040:Nup210l	UTSW	3	90181905	missense	probably damaging	1.00
R0083:Nup210l	UTSW	3	90189575	missense	probably damaging	1.00
R0090:Nup210l	UTSW	3	90211779	missense	probably benign	0.00
R0108:Nup210l	UTSW	3	90189575	missense	probably damaging	1.00
R0142:Nup210l	UTSW	3	90172113	missense	probably damaging	1.00
R0306:Nup210l	UTSW	3	90207368	missense	probably benign	0.13
R0332:Nup210l	UTSW	3	90132309	splice site	probably benign
R0346:Nup210l	UTSW	3	90189438	missense	probably damaging	1.00
R0463:Nup210l	UTSW	3	90180211	missense	probably null	1.00
R0622:Nup210l	UTSW	3	90167740	missense	probably damaging	0.98
R0765:Nup210l	UTSW	3	90119877	missense	probably damaging	0.99
R0990:Nup210l	UTSW	3	90211925	missense	probably benign	0.00
R1014:Nup210l	UTSW	3	90170048	missense	possibly damaging	0.62
R1036:Nup210l	UTSW	3	90192940	splice site	probably benign
R1177:Nup210l	UTSW	3	90202003	missense	probably benign	0.11
R1183:Nup210l	UTSW	3	90159945	missense	probably benign	0.04
R1188:Nup210l	UTSW	3	90198179	missense	probably benign	0.16
R1457:Nup210l	UTSW	3	90190972	missense	possibly damaging	0.68
R1471:Nup210l	UTSW	3	90170562	missense	probably benign
R1627:Nup210l	UTSW	3	90144169	missense	probably benign	0.15
R1778:Nup210l	UTSW	3	90189486	missense	probably damaging	0.99
R1827:Nup210l	UTSW	3	90154557	missense	probably damaging	1.00
R1843:Nup210l	UTSW	3	90172086	missense	probably damaging	0.96
R1858:Nup210l	UTSW	3	90154499	missense	probably damaging	0.97
R1942:Nup210l	UTSW	3	90151237	missense	probably benign	0.01
R2015:Nup210l	UTSW	3	90185432	missense	probably damaging	1.00
R2113:Nup210l	UTSW	3	90190974	missense	possibly damaging	0.48
R2944:Nup210l	UTSW	3	90181545	missense	probably damaging	1.00
R3736:Nup210l	UTSW	3	90120013	missense	probably damaging	1.00
R3740:Nup210l	UTSW	3	90207394	missense	probably benign	0.08
R3741:Nup210l	UTSW	3	90207394	missense	probably benign	0.08
R3742:Nup210l	UTSW	3	90207394	missense	probably benign	0.08
R3771:Nup210l	UTSW	3	90119894	nonsense	probably null
R3773:Nup210l	UTSW	3	90119894	nonsense	probably null
R3879:Nup210l	UTSW	3	90185473	missense	probably damaging	1.00
R3882:Nup210l	UTSW	3	90124210	missense	probably benign	0.19
R3953:Nup210l	UTSW	3	90193054	missense	possibly damaging	0.89
R3954:Nup210l	UTSW	3	90193054	missense	possibly damaging	0.89
R3955:Nup210l	UTSW	3	90193054	missense	possibly damaging	0.89
R3956:Nup210l	UTSW	3	90193054	missense	possibly damaging	0.89
R4200:Nup210l	UTSW	3	90119911	missense	probably damaging	1.00
R4290:Nup210l	UTSW	3	90207326	missense	probably benign	0.00
R4328:Nup210l	UTSW	3	90175835	splice site	probably null
R4629:Nup210l	UTSW	3	90167875	missense	probably benign	0.21
R4629:Nup210l	UTSW	3	90190874	nonsense	probably null
R4897:Nup210l	UTSW	3	90193071	missense	probably damaging	1.00
R4906:Nup210l	UTSW	3	90170030	missense	probably benign	0.06
R4966:Nup210l	UTSW	3	90106901	missense	probably benign	0.00
R5004:Nup210l	UTSW	3	90180165	nonsense	probably null
R5237:Nup210l	UTSW	3	90180198	missense	probably benign	0.00
R5499:Nup210l	UTSW	3	90174370	missense	probably damaging	1.00
R5522:Nup210l	UTSW	3	90154665	missense	probably benign	0.10
R5627:Nup210l	UTSW	3	90144250	missense	probably damaging	0.97
R5678:Nup210l	UTSW	3	90190959	missense	probably damaging	0.99
R5726:Nup210l	UTSW	3	90129207	intron	probably null
R5792:Nup210l	UTSW	3	90199857	missense	probably damaging	1.00
R6129:Nup210l	UTSW	3	90104176	missense	probably benign	0.00
R6272:Nup210l	UTSW	3	90170024	missense	possibly damaging	0.57
R6290:Nup210l	UTSW	3	90119909	nonsense	probably null
R6293:Nup210l	UTSW	3	90115064	missense	probably damaging	1.00
R6446:Nup210l	UTSW	3	90172068	missense	probably damaging	1.00
R6698:Nup210l	UTSW	3	90182508	missense	possibly damaging	0.57
R6855:Nup210l	UTSW	3	90136924	missense	probably benign	0.01
R6895:Nup210l	UTSW	3	90159924	missense	probably damaging	0.97
R6899:Nup210l	UTSW	3	90167897	missense	possibly damaging	0.77
R6978:Nup210l	UTSW	3	90154566	missense	possibly damaging	0.86
R7038:Nup210l	UTSW	3	90159947	missense	probably damaging	1.00
R7273:Nup210l	UTSW	3	90118547	missense	probably benign	0.04
R7450:Nup210l	UTSW	3	90115188	critical splice donor site	probably null
R7514:Nup210l	UTSW	3	90210459	critical splice donor site	probably null
R7658:Nup210l	UTSW	3	90211993	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TGGCACAGGATTCTAGAAGTGG -3'
(R):5'- TGGCCCAAATAATAGCAGCTAGAG -3'

Sequencing Primer
(F):5'- AGTTCAAGTTAGAGCCCAGCCTG -3'
(R):5'- AGCAGCTAGAGGCCTCTACTATATTC -3'

Posted On

2019-05-13