Mutagenetix > Incidental Mutation

Incidental Mutation 'R1827:Nup210l'

206885

Institutional Source

Beutler Lab

Gene Symbol

Nup210l

Ensembl Gene

ENSMUSG00000027939

Gene Name

nucleoporin 210-like

Synonyms

4930548O11Rik

MMRRC Submission

039854-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.432) question?

Stock #

R1827 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90011439-90119355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90061864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 681 (E681V)

Ref Sequence

ENSEMBL: ENSMUSP00000143368 (fasta)

Gene Model

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

AlphaFold

Q9D2F7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029548
AA Change: E681V

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

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: E681V

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 damaging
Transcript: ENSMUST00000200410
AA Change: E681V

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

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: E681V

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	G	C	7: 131,043,004 (GRCm39)	R355T	probably damaging	Het
Ackr2	C	T	9: 121,738,581 (GRCm39)	R319C	probably benign	Het
Acot4	G	A	12: 84,088,712 (GRCm39)	A187T	probably damaging	Het
Adgrb2	A	C	4: 129,906,350 (GRCm39)	Q926P	probably damaging	Het
Adgrb3	T	C	1: 25,571,658 (GRCm39)	T420A	probably damaging	Het
Adra1b	A	T	11: 43,726,476 (GRCm39)	V147E	probably damaging	Het
Bco1	A	G	8: 117,832,498 (GRCm39)	Y98C	probably damaging	Het
Car5a	C	T	8: 122,650,547 (GRCm39)	V166M	probably benign	Het
Cdh5	T	C	8: 104,839,541 (GRCm39)	L4P	possibly damaging	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cmya5	G	A	13: 93,210,956 (GRCm39)	T3279I	possibly damaging	Het
Col4a4	C	T	1: 82,517,709 (GRCm39)	G105D	unknown	Het
Cyp2d34	A	T	15: 82,500,295 (GRCm39)	H481Q	probably benign	Het
Dhx15	A	T	5: 52,327,422 (GRCm39)	C307*	probably null	Het
Dnah9	A	G	11: 65,740,887 (GRCm39)	Y4100H	probably damaging	Het
Dock10	T	C	1: 80,508,009 (GRCm39)	N1647S	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Esyt1	T	C	10: 128,352,238 (GRCm39)	E763G	probably benign	Het
Fbh1	G	T	2: 11,768,699 (GRCm39)	D332E	possibly damaging	Het
Fndc8	G	A	11: 82,790,355 (GRCm39)	V275M	probably damaging	Het
Focad	T	G	4: 88,147,620 (GRCm39)	Y420D	probably benign	Het
Gml	A	T	15: 74,688,280 (GRCm39)	H62Q	probably benign	Het
Gpr158	A	T	2: 21,832,129 (GRCm39)	L1076F	probably benign	Het
Gpr161	A	G	1: 165,134,136 (GRCm39)	T133A	possibly damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gsg1l	A	T	7: 125,509,369 (GRCm39)	I256K	possibly damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hnf1a	G	A	5: 115,098,254 (GRCm39)	A116V	probably damaging	Het
Hrh4	A	T	18: 13,155,261 (GRCm39)	T267S	probably damaging	Het
Igfals	A	T	17: 25,099,278 (GRCm39)	N123I	probably benign	Het
Iglon5	T	A	7: 43,128,545 (GRCm39)	T91S	probably benign	Het
Impg2	A	T	16: 56,087,583 (GRCm39)	N1134I	possibly damaging	Het
Incenp	A	G	19: 9,850,093 (GRCm39)	V860A	possibly damaging	Het
Irf5	A	T	6: 29,536,672 (GRCm39)	H461L	possibly damaging	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kank2	A	G	9: 21,706,761 (GRCm39)	S86P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kcnn3	A	T	3: 89,428,301 (GRCm39)	M176L	possibly damaging	Het
Mccc1	A	T	3: 36,039,150 (GRCm39)	I281N	probably damaging	Het
Mms19	G	A	19: 41,942,116 (GRCm39)	A584V	probably benign	Het
Mon2	A	T	10: 122,882,216 (GRCm39)	D184E	probably damaging	Het
Mrpl1	T	C	5: 96,374,202 (GRCm39)	V159A	possibly damaging	Het
Mtrex	C	A	13: 113,049,633 (GRCm39)		probably null	Het
Myo18a	C	T	11: 77,709,597 (GRCm39)	T190I	probably benign	Het
Myo7a	A	T	7: 97,725,938 (GRCm39)	M1038K	probably damaging	Het
Myrfl	T	A	10: 116,668,852 (GRCm39)	I304F	probably damaging	Het
Neo1	G	A	9: 58,824,314 (GRCm39)	R705*	probably null	Het
Nfat5	T	C	8: 108,093,966 (GRCm39)	S736P	probably benign	Het
Nlrp4c	C	T	7: 6,068,765 (GRCm39)	P222L	probably damaging	Het
Nmt1	T	A	11: 102,955,664 (GRCm39)	W481R	probably damaging	Het
Ntrk3	T	A	7: 77,897,049 (GRCm39)	I663L	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or56b1b	A	T	7: 108,164,282 (GRCm39)	V240D	probably benign	Het
Pald1	ATGCTGCTGCTGCTGC	ATGCTGCTGCTGC	10: 61,191,701 (GRCm39)		probably benign	Het
Ppm1e	T	C	11: 87,122,521 (GRCm39)	T479A	probably damaging	Het
Ppp1r7	A	G	1: 93,288,518 (GRCm39)	E298G	probably benign	Het
Pramel29	G	A	4: 143,936,180 (GRCm39)	P27S	probably damaging	Het
Prkaca	T	C	8: 84,717,616 (GRCm39)		probably null	Het
Prss36	A	G	7: 127,532,664 (GRCm39)	V718A	probably damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rrp12	G	C	19: 41,868,920 (GRCm39)	D519E	possibly damaging	Het
Rufy4	T	C	1: 74,173,279 (GRCm39)	L415P	probably damaging	Het
Ryk	T	A	9: 102,765,706 (GRCm39)	D335E	probably benign	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Scin	T	C	12: 40,118,922 (GRCm39)	R625G	possibly damaging	Het
Simc1	T	A	13: 54,672,452 (GRCm39)	C267S	probably benign	Het
Slc28a1	T	C	7: 80,787,950 (GRCm39)	V279A	possibly damaging	Het
Slc30a8	T	A	15: 52,194,953 (GRCm39)		probably null	Het
Slco6d1	A	G	1: 98,348,941 (GRCm39)	D4G	probably damaging	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Trpm1	G	A	7: 63,884,755 (GRCm39)	R812H	probably damaging	Het
Tsga10	T	A	1: 37,874,661 (GRCm39)	I75F	probably damaging	Het
Tyms	C	T	5: 30,267,014 (GRCm39)		probably null	Het
Ubr4	A	G	4: 139,153,008 (GRCm39)		probably null	Het
Unc45a	A	G	7: 79,981,488 (GRCm39)	V438A	possibly damaging	Het
Usf2	T	C	7: 30,654,765 (GRCm39)	D110G	probably damaging	Het
Vit	T	C	17: 78,853,875 (GRCm39)		probably null	Het
Vmn2r104	A	T	17: 20,262,497 (GRCm39)	M211K	probably damaging	Het
Vmn2r11	T	C	5: 109,199,938 (GRCm39)	H505R	probably benign	Het
Vmn2r77	G	A	7: 86,450,821 (GRCm39)	A236T	probably damaging	Het
Xpo1	T	C	11: 23,235,155 (GRCm39)	M608T	probably benign	Het
Zfp112	T	C	7: 23,824,385 (GRCm39)	F116L	probably damaging	Het
Zfp84	A	G	7: 29,476,768 (GRCm39)	T487A	possibly damaging	Het
Zfpl1	A	C	19: 6,131,901 (GRCm39)	L241R	probably benign	Het

Other mutations in Nup210l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Nup210l	APN	3	90,098,156 (GRCm39)	splice site	probably benign
IGL00813:Nup210l	APN	3	90,039,725 (GRCm39)	missense	probably benign	0.00
IGL01375:Nup210l	APN	3	90,067,200 (GRCm39)	missense	probably damaging	0.96
IGL01731:Nup210l	APN	3	90,061,873 (GRCm39)	missense	probably damaging	1.00
IGL01786:Nup210l	APN	3	90,030,083 (GRCm39)	nonsense	probably null
IGL01958:Nup210l	APN	3	90,111,231 (GRCm39)	missense	possibly damaging	0.74
IGL02094:Nup210l	APN	3	90,087,520 (GRCm39)	critical splice donor site	probably null
IGL02120:Nup210l	APN	3	90,044,169 (GRCm39)	missense	probably damaging	1.00
IGL02313:Nup210l	APN	3	90,030,099 (GRCm39)	missense	probably damaging	1.00
IGL02336:Nup210l	APN	3	90,088,859 (GRCm39)	critical splice donor site	probably null
IGL02348:Nup210l	APN	3	90,011,471 (GRCm39)	utr 5 prime	probably benign
IGL02372:Nup210l	APN	3	90,109,278 (GRCm39)	missense	possibly damaging	0.80
IGL02557:Nup210l	APN	3	90,031,537 (GRCm39)	missense	probably damaging	1.00
IGL02559:Nup210l	APN	3	90,067,260 (GRCm39)	missense	probably benign	0.02
IGL02738:Nup210l	APN	3	90,044,157 (GRCm39)	missense	possibly damaging	0.80
IGL03231:Nup210l	APN	3	90,096,852 (GRCm39)	missense	probably damaging	1.00
IGL03257:Nup210l	APN	3	90,087,455 (GRCm39)	critical splice acceptor site	probably null
IGL03388:Nup210l	APN	3	90,077,351 (GRCm39)	missense	probably damaging	1.00
IGL03134:Nup210l	UTSW	3	90,098,194 (GRCm39)	missense	possibly damaging	0.85
R0003:Nup210l	UTSW	3	90,027,218 (GRCm39)	missense	probably damaging	1.00
R0040:Nup210l	UTSW	3	90,089,212 (GRCm39)	missense	probably damaging	1.00
R0083:Nup210l	UTSW	3	90,096,882 (GRCm39)	missense	probably damaging	1.00
R0090:Nup210l	UTSW	3	90,119,086 (GRCm39)	missense	probably benign	0.00
R0108:Nup210l	UTSW	3	90,096,882 (GRCm39)	missense	probably damaging	1.00
R0142:Nup210l	UTSW	3	90,079,420 (GRCm39)	missense	probably damaging	1.00
R0306:Nup210l	UTSW	3	90,114,675 (GRCm39)	missense	probably benign	0.13
R0332:Nup210l	UTSW	3	90,039,616 (GRCm39)	splice site	probably benign
R0346:Nup210l	UTSW	3	90,096,745 (GRCm39)	missense	probably damaging	1.00
R0463:Nup210l	UTSW	3	90,087,518 (GRCm39)	missense	probably null	1.00
R0622:Nup210l	UTSW	3	90,075,047 (GRCm39)	missense	probably damaging	0.98
R0765:Nup210l	UTSW	3	90,027,184 (GRCm39)	missense	probably damaging	0.99
R0990:Nup210l	UTSW	3	90,119,232 (GRCm39)	missense	probably benign	0.00
R1014:Nup210l	UTSW	3	90,077,355 (GRCm39)	missense	possibly damaging	0.62
R1036:Nup210l	UTSW	3	90,100,247 (GRCm39)	splice site	probably benign
R1177:Nup210l	UTSW	3	90,109,310 (GRCm39)	missense	probably benign	0.11
R1183:Nup210l	UTSW	3	90,067,252 (GRCm39)	missense	probably benign	0.04
R1188:Nup210l	UTSW	3	90,105,486 (GRCm39)	missense	probably benign	0.16
R1457:Nup210l	UTSW	3	90,098,279 (GRCm39)	missense	possibly damaging	0.68
R1471:Nup210l	UTSW	3	90,077,869 (GRCm39)	missense	probably benign
R1627:Nup210l	UTSW	3	90,051,476 (GRCm39)	missense	probably benign	0.15
R1778:Nup210l	UTSW	3	90,096,793 (GRCm39)	missense	probably damaging	0.99
R1843:Nup210l	UTSW	3	90,079,393 (GRCm39)	missense	probably damaging	0.96
R1858:Nup210l	UTSW	3	90,061,806 (GRCm39)	missense	probably damaging	0.97
R1942:Nup210l	UTSW	3	90,058,544 (GRCm39)	missense	probably benign	0.01
R2015:Nup210l	UTSW	3	90,092,739 (GRCm39)	missense	probably damaging	1.00
R2113:Nup210l	UTSW	3	90,098,281 (GRCm39)	missense	possibly damaging	0.48
R2944:Nup210l	UTSW	3	90,088,852 (GRCm39)	missense	probably damaging	1.00
R3736:Nup210l	UTSW	3	90,027,320 (GRCm39)	missense	probably damaging	1.00
R3740:Nup210l	UTSW	3	90,114,701 (GRCm39)	missense	probably benign	0.08
R3741:Nup210l	UTSW	3	90,114,701 (GRCm39)	missense	probably benign	0.08
R3742:Nup210l	UTSW	3	90,114,701 (GRCm39)	missense	probably benign	0.08
R3771:Nup210l	UTSW	3	90,027,201 (GRCm39)	nonsense	probably null
R3773:Nup210l	UTSW	3	90,027,201 (GRCm39)	nonsense	probably null
R3879:Nup210l	UTSW	3	90,092,780 (GRCm39)	missense	probably damaging	1.00
R3882:Nup210l	UTSW	3	90,031,517 (GRCm39)	missense	probably benign	0.19
R3953:Nup210l	UTSW	3	90,100,361 (GRCm39)	missense	possibly damaging	0.89
R3954:Nup210l	UTSW	3	90,100,361 (GRCm39)	missense	possibly damaging	0.89
R3955:Nup210l	UTSW	3	90,100,361 (GRCm39)	missense	possibly damaging	0.89
R3956:Nup210l	UTSW	3	90,100,361 (GRCm39)	missense	possibly damaging	0.89
R4200:Nup210l	UTSW	3	90,027,218 (GRCm39)	missense	probably damaging	1.00
R4290:Nup210l	UTSW	3	90,114,633 (GRCm39)	missense	probably benign	0.00
R4328:Nup210l	UTSW	3	90,083,142 (GRCm39)	splice site	probably null
R4629:Nup210l	UTSW	3	90,098,181 (GRCm39)	nonsense	probably null
R4629:Nup210l	UTSW	3	90,075,182 (GRCm39)	missense	probably benign	0.21
R4897:Nup210l	UTSW	3	90,100,378 (GRCm39)	missense	probably damaging	1.00
R4906:Nup210l	UTSW	3	90,077,337 (GRCm39)	missense	probably benign	0.06
R4966:Nup210l	UTSW	3	90,014,208 (GRCm39)	missense	probably benign	0.00
R5004:Nup210l	UTSW	3	90,087,472 (GRCm39)	nonsense	probably null
R5237:Nup210l	UTSW	3	90,087,505 (GRCm39)	missense	probably benign	0.00
R5499:Nup210l	UTSW	3	90,081,677 (GRCm39)	missense	probably damaging	1.00
R5522:Nup210l	UTSW	3	90,061,972 (GRCm39)	missense	probably benign	0.10
R5627:Nup210l	UTSW	3	90,051,557 (GRCm39)	missense	probably damaging	0.97
R5678:Nup210l	UTSW	3	90,098,266 (GRCm39)	missense	probably damaging	0.99
R5726:Nup210l	UTSW	3	90,036,514 (GRCm39)	splice site	probably null
R5792:Nup210l	UTSW	3	90,107,164 (GRCm39)	missense	probably damaging	1.00
R6129:Nup210l	UTSW	3	90,011,483 (GRCm39)	missense	probably benign	0.00
R6272:Nup210l	UTSW	3	90,077,331 (GRCm39)	missense	possibly damaging	0.57
R6290:Nup210l	UTSW	3	90,027,216 (GRCm39)	nonsense	probably null
R6293:Nup210l	UTSW	3	90,022,371 (GRCm39)	missense	probably damaging	1.00
R6446:Nup210l	UTSW	3	90,079,375 (GRCm39)	missense	probably damaging	1.00
R6698:Nup210l	UTSW	3	90,089,815 (GRCm39)	missense	possibly damaging	0.57
R6855:Nup210l	UTSW	3	90,044,231 (GRCm39)	missense	probably benign	0.01
R6895:Nup210l	UTSW	3	90,067,231 (GRCm39)	missense	probably damaging	0.97
R6899:Nup210l	UTSW	3	90,075,204 (GRCm39)	missense	possibly damaging	0.77
R6978:Nup210l	UTSW	3	90,061,873 (GRCm39)	missense	possibly damaging	0.86
R6980:Nup210l	UTSW	3	90,027,234 (GRCm39)	missense	probably benign	0.04
R7038:Nup210l	UTSW	3	90,067,254 (GRCm39)	missense	probably damaging	1.00
R7273:Nup210l	UTSW	3	90,025,854 (GRCm39)	missense	probably benign	0.04
R7450:Nup210l	UTSW	3	90,022,495 (GRCm39)	critical splice donor site	probably null
R7514:Nup210l	UTSW	3	90,117,766 (GRCm39)	critical splice donor site	probably null
R7658:Nup210l	UTSW	3	90,119,300 (GRCm39)	missense	probably benign	0.43
R7735:Nup210l	UTSW	3	90,092,883 (GRCm39)	missense	probably damaging	1.00
R7772:Nup210l	UTSW	3	90,067,233 (GRCm39)	missense	probably damaging	1.00
R7800:Nup210l	UTSW	3	90,041,904 (GRCm39)	missense	probably damaging	1.00
R7840:Nup210l	UTSW	3	90,030,036 (GRCm39)	missense	probably benign	0.08
R7847:Nup210l	UTSW	3	90,058,430 (GRCm39)	missense	probably benign
R7848:Nup210l	UTSW	3	90,111,212 (GRCm39)	missense	probably benign	0.01
R8084:Nup210l	UTSW	3	90,043,365 (GRCm39)	missense	probably benign	0.15
R8121:Nup210l	UTSW	3	90,022,428 (GRCm39)	missense	probably damaging	1.00
R8421:Nup210l	UTSW	3	90,111,174 (GRCm39)	missense	probably damaging	1.00
R8458:Nup210l	UTSW	3	90,092,874 (GRCm39)	missense	probably null	1.00
R8701:Nup210l	UTSW	3	90,030,121 (GRCm39)	missense	probably benign	0.41
R8720:Nup210l	UTSW	3	90,117,681 (GRCm39)	missense	probably benign	0.00
R8770:Nup210l	UTSW	3	90,025,850 (GRCm39)	missense	probably damaging	1.00
R8896:Nup210l	UTSW	3	90,025,932 (GRCm39)	missense	probably damaging	1.00
R9033:Nup210l	UTSW	3	90,105,396 (GRCm39)	missense	probably benign
R9371:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9373:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9381:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9426:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9427:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9501:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9523:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9574:Nup210l	UTSW	3	90,117,693 (GRCm39)	missense	probably benign
R9612:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9654:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9660:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9660:Nup210l	UTSW	3	90,105,402 (GRCm39)	missense	probably benign	0.30
R9662:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9682:Nup210l	UTSW	3	90,051,469 (GRCm39)	missense	possibly damaging	0.79
R9729:Nup210l	UTSW	3	90,107,173 (GRCm39)	missense	probably benign	0.01
R9750:Nup210l	UTSW	3	90,117,659 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTAAAGGCATGGTAGGACACATTG -3'
(R):5'- GAATATTACAGGTTGCAGCGTC -3'

Sequencing Primer
(F):5'- CATGGTAGGACACATTGGTAATCC -3'
(R):5'- CAGGTTGCAGCGTCATACTAATG -3'

Posted On

2014-06-23