Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00780:Nup210l'

12807

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup210l

Ensembl Gene

ENSMUSG00000027939

Gene Name

nucleoporin 210-like

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

90104132-90212048 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 90190849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143368 (fasta)

Gene Model

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

AlphaFold

Q9D2F7

Predicted Effect

probably benign
Transcript: ENSMUST00000029548

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939

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

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,422,367 (GRCm38)	T355A	probably damaging	Het
Abi3bp	A	G	16: 56,602,805 (GRCm38)	D440G	probably null	Het
Acvrl1	T	A	15: 101,137,367 (GRCm38)	F258Y	probably damaging	Het
Ano1	A	G	7: 144,655,630 (GRCm38)	S278P	probably damaging	Het
AW146154	T	C	7: 41,480,459 (GRCm38)	Y411C	probably damaging	Het
Blnk	T	A	19: 40,934,446 (GRCm38)	K412M	probably benign	Het
Clpb	C	T	7: 101,778,608 (GRCm38)	R387*	probably null	Het
Dach1	A	T	14: 97,901,422 (GRCm38)	N528K	possibly damaging	Het
Dag1	A	T	9: 108,209,619 (GRCm38)	W108R	probably damaging	Het
Fbn2	T	C	18: 58,095,988 (GRCm38)	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,549,249 (GRCm38)	D394G	possibly damaging	Het
Gaa	T	A	11: 119,274,291 (GRCm38)		probably null	Het
Gpr158	A	T	2: 21,826,818 (GRCm38)	K910*	probably null	Het
Grb14	G	A	2: 64,914,718 (GRCm38)	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,479,221 (GRCm38)	D264G	probably benign	Het
Heatr3	A	G	8: 88,170,940 (GRCm38)	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,569,564 (GRCm38)	N407S	probably damaging	Het
Htr2a	A	T	14: 74,706,205 (GRCm38)	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,884,975 (GRCm38)	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,311,051 (GRCm38)	T2598I	probably benign	Het
Lcorl	T	C	5: 45,747,295 (GRCm38)	N137S	probably damaging	Het
Lef1	T	C	3: 131,193,130 (GRCm38)	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,281,077 (GRCm38)		probably benign	Het
Med15	G	A	16: 17,653,487 (GRCm38)	T642I	probably damaging	Het
Nasp	C	A	4: 116,603,999 (GRCm38)	E274*	probably null	Het
Pgghg	T	C	7: 140,945,351 (GRCm38)		probably null	Het
Plpp1	A	G	13: 112,851,506 (GRCm38)	I54M	probably damaging	Het
Poldip3	C	T	15: 83,138,479 (GRCm38)	G35R	probably damaging	Het
Ppig	A	T	2: 69,732,924 (GRCm38)	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,680,371 (GRCm38)	T999K	probably damaging	Het
Rad9b	T	C	5: 122,344,247 (GRCm38)	I142V	probably benign	Het
Ralgps1	A	T	2: 33,273,627 (GRCm38)	H139Q	probably damaging	Het
Rdh16f2	T	C	10: 127,875,092 (GRCm38)		probably null	Het
Sema3d	G	A	5: 12,524,326 (GRCm38)	R265Q	probably damaging	Het
Svs1	A	G	6: 48,987,739 (GRCm38)	D227G	probably damaging	Het
Tdp1	T	C	12: 99,893,648 (GRCm38)	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,841,856 (GRCm38)	D145V	probably benign	Het
Trpc4	C	T	3: 54,302,175 (GRCm38)	P654S	probably damaging	Het
Yy1	T	G	12: 108,815,537 (GRCm38)	I376S	probably damaging	Het
Zfp773	T	A	7: 7,133,114 (GRCm38)	Q161L	probably benign	Het

Other mutations in Nup210l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06