Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Nup210l'

216032

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

038334-MU

Accession Numbers

Essential gene?

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

Stock #

R0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

90104132-90212048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90181905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1165 (V1165D)

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: V1165D

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

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: V1165D

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: V1165D

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

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: V1165D

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

Meta Mutation Damage Score

0.6775

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	G	A	13: 74,283,024 (GRCm38)		probably benign	Het
Antxr2	G	A	5: 97,938,425 (GRCm38)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,894,456 (GRCm38)	Y108H	probably benign	Het
Atad5	A	G	11: 80,098,014 (GRCm38)	T666A	probably benign	Het
Atcay	C	T	10: 81,210,519 (GRCm38)		probably null	Het
Bahcc1	A	G	11: 120,268,370 (GRCm38)	D141G	probably damaging	Het
Ceacam10	A	G	7: 24,778,264 (GRCm38)	Y68C	probably damaging	Het
Cfap54	T	A	10: 92,977,039 (GRCm38)	Q1344L	probably benign	Het
Cyb5r4	A	G	9: 87,066,742 (GRCm38)		probably null	Het
Cyp2b9	G	T	7: 26,173,474 (GRCm38)	S14I	possibly damaging	Het
Dusp12	A	G	1: 170,880,657 (GRCm38)	Y164H	probably damaging	Het
Eml2	T	C	7: 19,196,614 (GRCm38)	V373A	possibly damaging	Het
Fat1	A	G	8: 45,026,404 (GRCm38)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,486,373 (GRCm38)	T671A	probably damaging	Het
Fbxo28	G	T	1: 182,326,240 (GRCm38)		probably benign	Het
Fbxo44	A	G	4: 148,158,695 (GRCm38)	L89P	probably damaging	Het
Fndc3b	T	A	3: 27,556,117 (GRCm38)		probably null	Het
Gm884	G	A	11: 103,542,990 (GRCm38)	P942S	probably damaging	Het
Gm9955	G	T	18: 24,709,152 (GRCm38)		probably benign	Het
Gprc6a	T	A	10: 51,614,984 (GRCm38)	K819*	probably null	Het
Gxylt1	A	T	15: 93,254,555 (GRCm38)		probably benign	Het
Hspa12a	T	C	19: 58,799,624 (GRCm38)	T589A	probably benign	Het
Idh2	A	G	7: 80,097,822 (GRCm38)	S317P	probably damaging	Het
Ifi30	T	C	8: 70,763,776 (GRCm38)		probably null	Het
Ifna16	G	A	4: 88,676,630 (GRCm38)	A76V	probably benign	Het
Itpr2	C	T	6: 146,345,140 (GRCm38)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,779,220 (GRCm38)	V330A	probably benign	Het
Kpna1	T	A	16: 36,023,241 (GRCm38)	D328E	probably damaging	Het
Krt71	T	A	15: 101,738,433 (GRCm38)	H280L	possibly damaging	Het
Mapt	A	G	11: 104,305,398 (GRCm38)	M446V	probably damaging	Het
Med1	C	T	11: 98,166,255 (GRCm38)		probably null	Het
Mif	T	A	10: 75,859,780 (GRCm38)	H63L	probably damaging	Het
Mycbp2	A	G	14: 103,224,272 (GRCm38)	V1447A	probably benign	Het
Myo1b	A	T	1: 51,781,989 (GRCm38)	I451N	probably damaging	Het
Nme2	A	T	11: 93,951,930 (GRCm38)		probably null	Het
Nubp1	A	G	16: 10,421,117 (GRCm38)	T199A	probably damaging	Het
Nup98	T	A	7: 102,192,034 (GRCm38)	T122S	probably damaging	Het
Olfr1106	C	T	2: 87,049,204 (GRCm38)	E11K	probably damaging	Het
Olfr304	A	T	7: 86,386,507 (GRCm38)	L51Q	probably benign	Het
Olfr354	T	C	2: 36,907,458 (GRCm38)	F171L	probably damaging	Het
Olfr771	T	A	10: 129,160,739 (GRCm38)	I82L	probably benign	Het
Pard3b	A	T	1: 62,637,820 (GRCm38)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,754,358 (GRCm38)	D536G	probably damaging	Het
Phrf1	G	T	7: 141,243,857 (GRCm38)	R196L	probably damaging	Het
Plxna2	G	T	1: 194,643,896 (GRCm38)	R46L	probably benign	Het
Rbm39	G	A	2: 156,148,179 (GRCm38)	T496I	possibly damaging	Het
Rpl14	C	G	9: 120,572,101 (GRCm38)	F3L	possibly damaging	Het
Rtf2	G	A	2: 172,444,696 (GRCm38)	S40N	probably damaging	Het
Runx2	G	A	17: 44,608,254 (GRCm38)	S481L	possibly damaging	Het
Sh3rf1	T	A	8: 61,329,252 (GRCm38)	Y143N	possibly damaging	Het
Siglec15	G	A	18: 78,048,877 (GRCm38)		probably benign	Het
Slc4a8	T	A	15: 100,789,846 (GRCm38)	I288N	probably damaging	Het
Ttc38	C	A	15: 85,841,489 (GRCm38)	F184L	probably damaging	Het
Vmn1r28	T	C	6: 58,265,894 (GRCm38)	Y241H	probably damaging	Het
Vmn2r110	A	T	17: 20,596,084 (GRCm38)	V59D	probably benign	Het
Wdpcp	A	G	11: 21,711,638 (GRCm38)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,867,914 (GRCm38)	A483T	probably benign	Het
Zfp106	C	A	2: 120,531,613 (GRCm38)	K1008N	probably damaging	Het
Zfp334	A	G	2: 165,381,572 (GRCm38)	Y184H	probably benign	Het
Zfp68	G	A	5: 138,607,779 (GRCm38)	T94I	probably benign	Het
Zkscan3	A	T	13: 21,394,920 (GRCm38)		probably null	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
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
R1457:Nup210l	UTSW	3	90,190,972 (GRCm38)	missense	possibly damaging	0.68
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'- TGGCACTGTCGTAAGATGTGGTCC -3'
(R):5'- GCTGTTGTATTGCATACCCTGCCTG -3'

Sequencing Primer
(F):5'- GATGTGGTCCCTATCCTTATAGAAC -3'
(R):5'- cccaggttccattcccag -3'

Posted On

2014-07-17