Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Nup210l'

181473

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 #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

90104132-90212048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90203924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1711 (L1711Q)

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: L1711Q

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: L1711Q

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: L1711Q

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: L1711Q

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797 (GRCm38)	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127 (GRCm38)	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701 (GRCm38)		probably null	Het
Agxt2	A	G	15: 10,393,708 (GRCm38)		probably null	Het
Ahnak	T	C	19: 9,014,909 (GRCm38)	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225 (GRCm38)	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966 (GRCm38)	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904 (GRCm38)	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843 (GRCm38)		probably benign	Het
Ccar1	G	A	10: 62,790,935 (GRCm38)	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764 (GRCm38)	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350 (GRCm38)	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344 (GRCm38)	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895 (GRCm38)		probably benign	Het
Dnajc10	T	A	2: 80,321,304 (GRCm38)		probably benign	Het
Dtl	C	A	1: 191,568,377 (GRCm38)	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955 (GRCm38)	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308 (GRCm38)	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm38)	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767 (GRCm38)		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570 (GRCm38)	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654 (GRCm38)	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532 (GRCm38)	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871 (GRCm38)	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043 (GRCm38)	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088 (GRCm38)	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494 (GRCm38)		probably benign	Het
Kat14	T	C	2: 144,394,365 (GRCm38)	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462 (GRCm38)	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722 (GRCm38)	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528 (GRCm38)		probably null	Het
Map3k13	A	G	16: 21,892,123 (GRCm38)	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743 (GRCm38)		probably benign	Het
Mphosph9	A	T	5: 124,324,990 (GRCm38)		probably benign	Het
Myrf	A	G	19: 10,210,378 (GRCm38)		probably benign	Het
Nek11	T	C	9: 105,300,303 (GRCm38)	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826 (GRCm38)	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438 (GRCm38)	C586*	probably null	Het
Parp8	T	G	13: 116,876,572 (GRCm38)	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679 (GRCm38)	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683 (GRCm38)	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324 (GRCm38)	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586 (GRCm38)	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427 (GRCm38)	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651 (GRCm38)	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764 (GRCm38)	R804*	probably null	Het
Relt	A	G	7: 100,851,143 (GRCm38)	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317 (GRCm38)	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829 (GRCm38)	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057 (GRCm38)	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440 (GRCm38)		probably benign	Het
Sparcl1	A	T	5: 104,092,540 (GRCm38)	D339E	probably benign	Het
Tg	T	C	15: 66,759,486 (GRCm38)	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276 (GRCm38)	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807 (GRCm38)	K373M	probably benign	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
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

2014-05-07