Mutagenetix > Incidental Mutation

Incidental Mutation 'R1457:Nup210l'

158548

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

039512-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R1457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90104132-90212048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90190972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1410 (N1410K)

Ref Sequence

ENSEMBL: ENSMUSP00000143368 (fasta)

Gene Model

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

AlphaFold

Q9D2F7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029548
AA Change: N1410K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: N1410K

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

possibly damaging
Transcript: ENSMUST00000200410
AA Change: N1410K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: N1410K

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: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,289,460 (GRCm38)	I1210F	probably benign	Het
Ankrd17	T	C	5: 90,285,846 (GRCm38)	H688R	possibly damaging	Het
Arhgap24	T	A	5: 102,664,106 (GRCm38)	N66K	probably damaging	Het
Atp1a1	C	T	3: 101,590,466 (GRCm38)	G335D	probably damaging	Het
Cacna1g	C	T	11: 94,459,555 (GRCm38)	R488H	possibly damaging	Het
Cacna1h	A	T	17: 25,397,620 (GRCm38)	V149E	probably damaging	Het
Cd22	G	T	7: 30,873,170 (GRCm38)	P338Q	probably benign	Het
Cntln	G	T	4: 85,096,839 (GRCm38)	M1122I	probably benign	Het
Cntrl	A	G	2: 35,122,756 (GRCm38)	N302S	probably benign	Het
Cog8	T	C	8: 107,052,896 (GRCm38)	R250G	probably damaging	Het
Cracdl	A	T	1: 37,626,012 (GRCm38)	Y268*	probably null	Het
Creld2	T	C	15: 88,823,753 (GRCm38)	C232R	probably damaging	Het
Cyp2b23	G	A	7: 26,673,149 (GRCm38)	P347L	probably damaging	Het
Dnah5	T	C	15: 28,403,542 (GRCm38)		probably null	Het
Eml6	C	T	11: 30,024,459 (GRCm38)	V40I	probably damaging	Het
Epb42	C	T	2: 121,029,967 (GRCm38)		probably null	Het
Fcrla	A	G	1: 170,921,004 (GRCm38)	L190P	probably damaging	Het
Galnt18	A	T	7: 111,779,428 (GRCm38)	Y40*	probably null	Het
Gdf7	A	T	12: 8,298,073 (GRCm38)	M416K	probably damaging	Het
Gm11232	T	A	4: 71,756,919 (GRCm38)		probably null	Het
Gpam	T	A	19: 55,088,176 (GRCm38)	N198Y	probably damaging	Het
Grip1	C	T	10: 119,986,350 (GRCm38)	S327F	possibly damaging	Het
Hey2	C	T	10: 30,834,356 (GRCm38)	A134T	probably benign	Het
Kat6a	T	C	8: 22,938,652 (GRCm38)	I1341T	probably benign	Het
Kcnd3	T	C	3: 105,668,186 (GRCm38)	L542P	probably benign	Het
Lars1	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lman2	T	C	13: 55,351,251 (GRCm38)	D234G	probably benign	Het
Map3k19	A	C	1: 127,817,898 (GRCm38)	I1273R	probably damaging	Het
Matn1	T	A	4: 130,950,019 (GRCm38)	F180I	possibly damaging	Het
Meikin	T	A	11: 54,370,941 (GRCm38)	L61*	probably null	Het
Mroh2b	G	T	15: 4,925,684 (GRCm38)	D720Y	probably damaging	Het
Myh13	T	C	11: 67,331,046 (GRCm38)	I199T	probably damaging	Het
Myh4	T	A	11: 67,248,461 (GRCm38)	S535T	probably damaging	Het
Myo5a	T	C	9: 75,213,065 (GRCm38)	M1715T	probably damaging	Het
Nat8	A	T	6: 85,830,989 (GRCm38)	V54D	probably damaging	Het
Nbea	A	G	3: 56,085,327 (GRCm38)	V286A	probably damaging	Het
Ndnf	A	G	6: 65,704,014 (GRCm38)	K426E	possibly damaging	Het
Oca2	A	T	7: 56,321,521 (GRCm38)	T399S	probably damaging	Het
Or10al2	A	T	17: 37,672,925 (GRCm38)	K301*	probably null	Het
Or1af1	A	C	2: 37,219,659 (GRCm38)	T57P	possibly damaging	Het
Or51a43	A	T	7: 104,068,459 (GRCm38)	C191S	probably damaging	Het
Or52h7	T	A	7: 104,565,071 (GRCm38)	N283K	probably damaging	Het
Or8c10	G	A	9: 38,368,196 (GRCm38)	V217I	probably benign	Het
Or8j3	A	G	2: 86,198,252 (GRCm38)	S167P	probably damaging	Het
Otogl	A	C	10: 107,878,152 (GRCm38)		probably null	Het
Pde4b	C	T	4: 102,605,176 (GRCm38)	T511I	probably damaging	Het
Proser3	A	G	7: 30,539,747 (GRCm38)		probably null	Het
Psmd12	G	A	11: 107,479,646 (GRCm38)	V24M	probably damaging	Het
Rbm17	A	T	2: 11,593,461 (GRCm38)	M170K	probably benign	Het
Rims2	C	T	15: 39,511,314 (GRCm38)	T1064I	possibly damaging	Het
Ripor3	C	T	2: 167,992,653 (GRCm38)	V281M	probably damaging	Het
Rreb1	C	A	13: 37,946,928 (GRCm38)	Q1353K	possibly damaging	Het
Sgo2a	A	G	1: 58,015,806 (GRCm38)	D383G	probably benign	Het
Sik3	C	T	9: 46,221,148 (GRCm38)	T1346M	probably damaging	Het
Slx1b	A	T	7: 126,692,796 (GRCm38)	V63E	probably damaging	Het
Son	A	G	16: 91,657,086 (GRCm38)	D907G	probably damaging	Het
Src	G	A	2: 157,469,212 (GRCm38)	V401M	probably damaging	Het
St3gal4	T	C	9: 35,054,757 (GRCm38)	K24E	possibly damaging	Het
Stat6	A	G	10: 127,658,245 (GRCm38)	K647R	probably damaging	Het
Tbl1xr1	G	A	3: 22,193,169 (GRCm38)		probably null	Het
Tlk2	G	A	11: 105,256,952 (GRCm38)		probably null	Het
Tmbim6	T	A	15: 99,401,615 (GRCm38)	I3K	probably benign	Het
Tmeff2	A	T	1: 51,181,867 (GRCm38)	I334F	probably damaging	Het
Ttn	T	C	2: 76,840,315 (GRCm38)		probably null	Het
Ubl7	T	A	9: 57,914,611 (GRCm38)	I81N	probably damaging	Het
Ugt1a10	A	G	1: 88,055,711 (GRCm38)	Y77C	probably damaging	Het
Uqcrfs1	A	G	13: 30,540,907 (GRCm38)	C217R	probably damaging	Het
Usp50	T	C	2: 126,761,634 (GRCm38)	T331A	probably benign	Het
Vmn1r65	A	G	7: 6,009,157 (GRCm38)	V26A	probably benign	Het
Wdfy3	A	C	5: 101,917,579 (GRCm38)	V1241G	possibly damaging	Het
Wtap	A	C	17: 12,981,744 (GRCm38)		probably null	Het
Zbtb40	C	A	4: 136,984,837 (GRCm38)	A1187S	possibly damaging	Het
Zfp57	T	C	17: 37,006,098 (GRCm38)	S20P	probably damaging	Het
Zfp592	A	G	7: 81,024,479 (GRCm38)	D397G	probably damaging	Het
Zfp747	A	T	7: 127,374,504 (GRCm38)	S165T	probably benign	Het
Zfp949	C	T	9: 88,569,838 (GRCm38)	T487I	probably damaging	Het
Zscan4d	A	G	7: 11,164,994 (GRCm38)	C119R	probably damaging	Het

Other mutations in Nup210l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Nup210l	APN	3	90,190,849 (GRCm38)	splice site	probably benign
IGL00813:Nup210l	APN	3	90,132,418 (GRCm38)	missense	probably benign	0.00
IGL01375:Nup210l	APN	3	90,159,893 (GRCm38)	missense	probably damaging	0.96
IGL01731:Nup210l	APN	3	90,154,566 (GRCm38)	missense	probably damaging	1.00
IGL01786:Nup210l	APN	3	90,122,776 (GRCm38)	nonsense	probably null
IGL01958:Nup210l	APN	3	90,203,924 (GRCm38)	missense	possibly damaging	0.74
IGL02094:Nup210l	APN	3	90,180,213 (GRCm38)	critical splice donor site	probably null
IGL02120:Nup210l	APN	3	90,136,862 (GRCm38)	missense	probably damaging	1.00
IGL02313:Nup210l	APN	3	90,122,792 (GRCm38)	missense	probably damaging	1.00
IGL02336:Nup210l	APN	3	90,181,552 (GRCm38)	critical splice donor site	probably null
IGL02348:Nup210l	APN	3	90,104,164 (GRCm38)	utr 5 prime	probably benign
IGL02372:Nup210l	APN	3	90,201,971 (GRCm38)	missense	possibly damaging	0.80
IGL02557:Nup210l	APN	3	90,124,230 (GRCm38)	missense	probably damaging	1.00
IGL02559:Nup210l	APN	3	90,159,953 (GRCm38)	missense	probably benign	0.02
IGL02738:Nup210l	APN	3	90,136,850 (GRCm38)	missense	possibly damaging	0.80
IGL03231:Nup210l	APN	3	90,189,545 (GRCm38)	missense	probably damaging	1.00
IGL03257:Nup210l	APN	3	90,180,148 (GRCm38)	critical splice acceptor site	probably null
IGL03388:Nup210l	APN	3	90,170,044 (GRCm38)	missense	probably damaging	1.00
IGL03134:Nup210l	UTSW	3	90,190,887 (GRCm38)	missense	possibly damaging	0.85
R0003:Nup210l	UTSW	3	90,119,911 (GRCm38)	missense	probably damaging	1.00
R0040:Nup210l	UTSW	3	90,181,905 (GRCm38)	missense	probably damaging	1.00
R0083:Nup210l	UTSW	3	90,189,575 (GRCm38)	missense	probably damaging	1.00
R0090:Nup210l	UTSW	3	90,211,779 (GRCm38)	missense	probably benign	0.00
R0108:Nup210l	UTSW	3	90,189,575 (GRCm38)	missense	probably damaging	1.00
R0142:Nup210l	UTSW	3	90,172,113 (GRCm38)	missense	probably damaging	1.00
R0306:Nup210l	UTSW	3	90,207,368 (GRCm38)	missense	probably benign	0.13
R0332:Nup210l	UTSW	3	90,132,309 (GRCm38)	splice site	probably benign
R0346:Nup210l	UTSW	3	90,189,438 (GRCm38)	missense	probably damaging	1.00
R0463:Nup210l	UTSW	3	90,180,211 (GRCm38)	missense	probably null	1.00
R0622:Nup210l	UTSW	3	90,167,740 (GRCm38)	missense	probably damaging	0.98
R0765:Nup210l	UTSW	3	90,119,877 (GRCm38)	missense	probably damaging	0.99
R0990:Nup210l	UTSW	3	90,211,925 (GRCm38)	missense	probably benign	0.00
R1014:Nup210l	UTSW	3	90,170,048 (GRCm38)	missense	possibly damaging	0.62
R1036:Nup210l	UTSW	3	90,192,940 (GRCm38)	splice site	probably benign
R1177:Nup210l	UTSW	3	90,202,003 (GRCm38)	missense	probably benign	0.11
R1183:Nup210l	UTSW	3	90,159,945 (GRCm38)	missense	probably benign	0.04
R1188:Nup210l	UTSW	3	90,198,179 (GRCm38)	missense	probably benign	0.16
R1471:Nup210l	UTSW	3	90,170,562 (GRCm38)	missense	probably benign
R1627:Nup210l	UTSW	3	90,144,169 (GRCm38)	missense	probably benign	0.15
R1778:Nup210l	UTSW	3	90,189,486 (GRCm38)	missense	probably damaging	0.99
R1827:Nup210l	UTSW	3	90,154,557 (GRCm38)	missense	probably damaging	1.00
R1843:Nup210l	UTSW	3	90,172,086 (GRCm38)	missense	probably damaging	0.96
R1858:Nup210l	UTSW	3	90,154,499 (GRCm38)	missense	probably damaging	0.97
R1942:Nup210l	UTSW	3	90,151,237 (GRCm38)	missense	probably benign	0.01
R2015:Nup210l	UTSW	3	90,185,432 (GRCm38)	missense	probably damaging	1.00
R2113:Nup210l	UTSW	3	90,190,974 (GRCm38)	missense	possibly damaging	0.48
R2944:Nup210l	UTSW	3	90,181,545 (GRCm38)	missense	probably damaging	1.00
R3736:Nup210l	UTSW	3	90,120,013 (GRCm38)	missense	probably damaging	1.00
R3740:Nup210l	UTSW	3	90,207,394 (GRCm38)	missense	probably benign	0.08
R3741:Nup210l	UTSW	3	90,207,394 (GRCm38)	missense	probably benign	0.08
R3742:Nup210l	UTSW	3	90,207,394 (GRCm38)	missense	probably benign	0.08
R3771:Nup210l	UTSW	3	90,119,894 (GRCm38)	nonsense	probably null
R3773:Nup210l	UTSW	3	90,119,894 (GRCm38)	nonsense	probably null
R3879:Nup210l	UTSW	3	90,185,473 (GRCm38)	missense	probably damaging	1.00
R3882:Nup210l	UTSW	3	90,124,210 (GRCm38)	missense	probably benign	0.19
R3953:Nup210l	UTSW	3	90,193,054 (GRCm38)	missense	possibly damaging	0.89
R3954:Nup210l	UTSW	3	90,193,054 (GRCm38)	missense	possibly damaging	0.89
R3955:Nup210l	UTSW	3	90,193,054 (GRCm38)	missense	possibly damaging	0.89
R3956:Nup210l	UTSW	3	90,193,054 (GRCm38)	missense	possibly damaging	0.89
R4200:Nup210l	UTSW	3	90,119,911 (GRCm38)	missense	probably damaging	1.00
R4290:Nup210l	UTSW	3	90,207,326 (GRCm38)	missense	probably benign	0.00
R4328:Nup210l	UTSW	3	90,175,835 (GRCm38)	splice site	probably null
R4629:Nup210l	UTSW	3	90,190,874 (GRCm38)	nonsense	probably null
R4629:Nup210l	UTSW	3	90,167,875 (GRCm38)	missense	probably benign	0.21
R4897:Nup210l	UTSW	3	90,193,071 (GRCm38)	missense	probably damaging	1.00
R4906:Nup210l	UTSW	3	90,170,030 (GRCm38)	missense	probably benign	0.06
R4966:Nup210l	UTSW	3	90,106,901 (GRCm38)	missense	probably benign	0.00
R5004:Nup210l	UTSW	3	90,180,165 (GRCm38)	nonsense	probably null
R5237:Nup210l	UTSW	3	90,180,198 (GRCm38)	missense	probably benign	0.00
R5499:Nup210l	UTSW	3	90,174,370 (GRCm38)	missense	probably damaging	1.00
R5522:Nup210l	UTSW	3	90,154,665 (GRCm38)	missense	probably benign	0.10
R5627:Nup210l	UTSW	3	90,144,250 (GRCm38)	missense	probably damaging	0.97
R5678:Nup210l	UTSW	3	90,190,959 (GRCm38)	missense	probably damaging	0.99
R5726:Nup210l	UTSW	3	90,129,207 (GRCm38)	splice site	probably null
R5792:Nup210l	UTSW	3	90,199,857 (GRCm38)	missense	probably damaging	1.00
R6129:Nup210l	UTSW	3	90,104,176 (GRCm38)	missense	probably benign	0.00
R6272:Nup210l	UTSW	3	90,170,024 (GRCm38)	missense	possibly damaging	0.57
R6290:Nup210l	UTSW	3	90,119,909 (GRCm38)	nonsense	probably null
R6293:Nup210l	UTSW	3	90,115,064 (GRCm38)	missense	probably damaging	1.00
R6446:Nup210l	UTSW	3	90,172,068 (GRCm38)	missense	probably damaging	1.00
R6698:Nup210l	UTSW	3	90,182,508 (GRCm38)	missense	possibly damaging	0.57
R6855:Nup210l	UTSW	3	90,136,924 (GRCm38)	missense	probably benign	0.01
R6895:Nup210l	UTSW	3	90,159,924 (GRCm38)	missense	probably damaging	0.97
R6899:Nup210l	UTSW	3	90,167,897 (GRCm38)	missense	possibly damaging	0.77
R6978:Nup210l	UTSW	3	90,154,566 (GRCm38)	missense	possibly damaging	0.86
R6980:Nup210l	UTSW	3	90,119,927 (GRCm38)	missense	probably benign	0.04
R7038:Nup210l	UTSW	3	90,159,947 (GRCm38)	missense	probably damaging	1.00
R7273:Nup210l	UTSW	3	90,118,547 (GRCm38)	missense	probably benign	0.04
R7450:Nup210l	UTSW	3	90,115,188 (GRCm38)	critical splice donor site	probably null
R7514:Nup210l	UTSW	3	90,210,459 (GRCm38)	critical splice donor site	probably null
R7658:Nup210l	UTSW	3	90,211,993 (GRCm38)	missense	probably benign	0.43
R7735:Nup210l	UTSW	3	90,185,576 (GRCm38)	missense	probably damaging	1.00
R7772:Nup210l	UTSW	3	90,159,926 (GRCm38)	missense	probably damaging	1.00
R7800:Nup210l	UTSW	3	90,134,597 (GRCm38)	missense	probably damaging	1.00
R7840:Nup210l	UTSW	3	90,122,729 (GRCm38)	missense	probably benign	0.08
R7847:Nup210l	UTSW	3	90,151,123 (GRCm38)	missense	probably benign
R7848:Nup210l	UTSW	3	90,203,905 (GRCm38)	missense	probably benign	0.01
R8084:Nup210l	UTSW	3	90,136,058 (GRCm38)	missense	probably benign	0.15
R8121:Nup210l	UTSW	3	90,115,121 (GRCm38)	missense	probably damaging	1.00
R8421:Nup210l	UTSW	3	90,203,867 (GRCm38)	missense	probably damaging	1.00
R8458:Nup210l	UTSW	3	90,185,567 (GRCm38)	missense	probably null	1.00
R8701:Nup210l	UTSW	3	90,122,814 (GRCm38)	missense	probably benign	0.41
R8720:Nup210l	UTSW	3	90,210,374 (GRCm38)	missense	probably benign	0.00
R8770:Nup210l	UTSW	3	90,118,543 (GRCm38)	missense	probably damaging	1.00
R8896:Nup210l	UTSW	3	90,118,625 (GRCm38)	missense	probably damaging	1.00
R9033:Nup210l	UTSW	3	90,198,089 (GRCm38)	missense	probably benign
R9371:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9373:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9381:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9426:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9427:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9501:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9523:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9574:Nup210l	UTSW	3	90,210,386 (GRCm38)	missense	probably benign
R9612:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9654:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9660:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9660:Nup210l	UTSW	3	90,198,095 (GRCm38)	missense	probably benign	0.30
R9662:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9682:Nup210l	UTSW	3	90,144,162 (GRCm38)	missense	possibly damaging	0.79
R9729:Nup210l	UTSW	3	90,199,866 (GRCm38)	missense	probably benign	0.01
R9750:Nup210l	UTSW	3	90,210,352 (GRCm38)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCAGCTTGAATAATGAAGCAGCC -3'
(R):5'- AAGAGGAATCTGCTGAAACTGCCGC -3'

Sequencing Primer
(F):5'- tccccagaacccatagaagag -3'
(R):5'- TGCCGCAGAACACTGAG -3'

Posted On

2014-03-14