Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02738:Nup210l'

305759

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 #

IGL02738

Quality Score

Status

Chromosome

Chromosomal Location

90104132-90212048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90136850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 486 (E486G)

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: E486G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: E486G

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: E486G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: E486G

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	A	T	2: 150,624,872 (GRCm38)		probably benign	Het
Akr1c21	A	T	13: 4,580,301 (GRCm38)	N198Y	probably damaging	Het
Anapc11	A	T	11: 120,599,276 (GRCm38)	K6I	probably benign	Het
Angel1	G	A	12: 86,705,286 (GRCm38)	L554F	probably benign	Het
Arhgap11a	A	T	2: 113,832,975 (GRCm38)	*988K	probably null	Het
Arnt	T	A	3: 95,495,320 (GRCm38)		probably null	Het
Atp1a3	T	A	7: 24,990,476 (GRCm38)	D519V	possibly damaging	Het
Bdp1	C	A	13: 100,051,353 (GRCm38)	A1575S	probably benign	Het
Bglap	G	A	3: 88,384,408 (GRCm38)	T3I	unknown	Het
Brca2	C	T	5: 150,567,035 (GRCm38)	P3054L	probably damaging	Het
Btn2a2	C	A	13: 23,478,806 (GRCm38)	E316*	probably null	Het
C1qtnf9	C	T	14: 60,779,939 (GRCm38)	T306I	probably benign	Het
Caprin2	T	C	6: 148,842,862 (GRCm38)	T1022A	probably damaging	Het
Cd109	T	C	9: 78,691,299 (GRCm38)	Y940H	probably damaging	Het
Cd300ld	A	G	11: 114,984,250 (GRCm38)	L186S	probably benign	Het
Cdc45	C	T	16: 18,798,729 (GRCm38)	M200I	probably benign	Het
Chd6	A	T	2: 160,965,698 (GRCm38)	S1865R	probably benign	Het
Chrna2	T	C	14: 66,149,440 (GRCm38)	V345A	probably benign	Het
Dnah1	T	G	14: 31,292,640 (GRCm38)	E1756A	probably benign	Het
Dnah3	C	T	7: 119,965,497 (GRCm38)	A2637T	probably benign	Het
Ern2	A	G	7: 122,182,899 (GRCm38)	F80S	probably damaging	Het
Ero1b	A	G	13: 12,604,433 (GRCm38)	I439V	possibly damaging	Het
Eva1a	T	G	6: 82,071,230 (GRCm38)	S30A	probably benign	Het
Fer1l4	A	G	2: 156,045,728 (GRCm38)	L516P	probably benign	Het
Garin2	T	A	12: 78,734,215 (GRCm38)		probably benign	Het
Hexim2	T	C	11: 103,138,277 (GRCm38)	S52P	probably damaging	Het
Hoxb9	A	T	11: 96,274,728 (GRCm38)	M208L	possibly damaging	Het
Lbr	A	G	1: 181,832,213 (GRCm38)	V139A	probably benign	Het
Lcn10	G	A	2: 25,684,020 (GRCm38)		probably benign	Het
Letm2	A	G	8: 25,586,773 (GRCm38)	I271T	probably damaging	Het
Lrrc34	T	C	3: 30,631,292 (GRCm38)	S303G	possibly damaging	Het
Matn2	C	A	15: 34,388,739 (GRCm38)	A325D	probably benign	Het
Mboat4	T	C	8: 34,115,104 (GRCm38)	L4P	probably damaging	Het
Mmp1a	T	A	9: 7,464,301 (GRCm38)		probably benign	Het
Naip2	T	A	13: 100,189,177 (GRCm38)	R74S	probably benign	Het
Neb	G	T	2: 52,243,850 (GRCm38)	Q3374K	probably damaging	Het
Or4b13	A	G	2: 90,252,355 (GRCm38)	I211T	possibly damaging	Het
Or4k51	A	C	2: 111,754,354 (GRCm38)	Y35S	probably damaging	Het
Or5m12	A	G	2: 85,904,949 (GRCm38)	V35A	probably benign	Het
Or6c69	A	T	10: 129,911,331 (GRCm38)		probably benign	Het
Pde8a	A	C	7: 81,326,342 (GRCm38)	N677H	probably damaging	Het
Plag1	G	A	4: 3,903,812 (GRCm38)	Q460*	probably null	Het
Podnl1	A	G	8: 84,132,195 (GRCm38)	T550A	probably benign	Het
Ptpn22	A	G	3: 103,874,066 (GRCm38)		probably benign	Het
Pycr3	A	T	15: 75,918,716 (GRCm38)	I98N	probably damaging	Het
Rtn4r	A	G	16: 18,151,188 (GRCm38)	Y160C	probably damaging	Het
Slc27a4	A	G	2: 29,811,226 (GRCm38)	N343S	probably benign	Het
Slc2a4	A	G	11: 69,946,114 (GRCm38)	Y43H	probably damaging	Het
Sorbs1	A	T	19: 40,376,904 (GRCm38)	L145Q	probably damaging	Het
Speer2	A	T	16: 69,861,712 (GRCm38)	S22T	probably benign	Het
Sugp2	G	T	8: 70,243,799 (GRCm38)	G474V	probably damaging	Het
Syt3	C	T	7: 44,386,023 (GRCm38)	S18L	possibly damaging	Het
Tacc1	T	C	8: 25,201,143 (GRCm38)	E48G	probably damaging	Het
Tdrd6	A	G	17: 43,620,446 (GRCm38)	V2083A	probably benign	Het
Thra	A	T	11: 98,764,359 (GRCm38)	H355L	probably benign	Het
Tmem35b	C	T	4: 127,126,188 (GRCm38)	Q34*	probably null	Het
Unk	G	T	11: 116,056,191 (GRCm38)	G537V	probably damaging	Het
Usp32	T	A	11: 85,083,806 (GRCm38)	D92V	probably damaging	Het
Vmn1r209	G	T	13: 22,806,120 (GRCm38)	Y133*	probably null	Het
Vmn1r42	A	G	6: 89,844,648 (GRCm38)	V313A	possibly damaging	Het
Vnn1	A	G	10: 23,904,622 (GRCm38)	I503V	probably benign	Het
Vwa2	G	A	19: 56,897,929 (GRCm38)	G143R	possibly 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
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

2015-04-16