Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02348:Nup210l'

289395

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup210l

Ensembl Gene

ENSMUSG00000027939

Gene Name

nucleoporin 210-like

Synonyms

4930548O11Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02348

Quality Score

Status

Chromosome

Chromosomal Location

90011439-90119355 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to A at 90011471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029548] [ENSMUST00000029549] [ENSMUST00000118566] [ENSMUST00000119570] [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: ENSMUST00000029549

SMART Domains

Protein: ENSMUSP00000029549
Gene: ENSMUSG00000027940

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	4	117	3.9e-22	PFAM
Pfam:Tropomyosin	12	248	7.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118566

SMART Domains

Protein: ENSMUSP00000113056
Gene: ENSMUSG00000027940

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	3	117	2e-21	PFAM
Pfam:Tropomyosin	12	248	1.7e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119570

SMART Domains

Protein: ENSMUSP00000113978
Gene: ENSMUSG00000027940

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	8	154	4.2e-35	PFAM
Pfam:CLZ	10	75	1.2e-9	PFAM
Pfam:Tropomyosin	49	285	3.7e-91	PFAM

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	G	A	10: 4,304,722 (GRCm39)	D511N	probably damaging	Het
Akt3	T	A	1: 176,886,952 (GRCm39)	D299V	probably damaging	Het
Arfgef3	G	A	10: 18,467,095 (GRCm39)	P2035L	probably benign	Het
Atp13a3	C	T	16: 30,170,046 (GRCm39)		probably null	Het
Capn9	C	A	8: 125,321,416 (GRCm39)	P151T	probably damaging	Het
Csrnp1	T	A	9: 119,801,709 (GRCm39)	D450V	probably damaging	Het
Ctrb1	C	T	8: 112,413,762 (GRCm39)	A201T	possibly damaging	Het
Erp27	T	C	6: 136,888,544 (GRCm39)	T145A	probably damaging	Het
Fads2b	T	C	2: 85,323,640 (GRCm39)	I298V	possibly damaging	Het
Fanca	A	T	8: 124,032,002 (GRCm39)	L256Q	probably damaging	Het
Fars2	G	A	13: 36,721,354 (GRCm39)	V433I	probably benign	Het
Fbxo9	T	A	9: 78,016,289 (GRCm39)	M1L	probably benign	Het
Fcnb	C	A	2: 27,974,842 (GRCm39)	V10F	possibly damaging	Het
Gad2	C	T	2: 22,519,405 (GRCm39)	H175Y	probably damaging	Het
Get4	G	A	5: 139,238,254 (GRCm39)	G12D	probably benign	Het
Gmpr2	T	A	14: 55,915,758 (GRCm39)	I312N	probably damaging	Het
Golm1	T	A	13: 59,786,191 (GRCm39)	M334L	probably benign	Het
Itgam	T	A	7: 127,715,472 (GRCm39)	F1054L	possibly damaging	Het
Kcnk7	C	A	19: 5,756,501 (GRCm39)		probably benign	Het
Kif3b	G	A	2: 153,158,813 (GRCm39)	A205T	probably damaging	Het
Macf1	C	T	4: 123,406,659 (GRCm39)	V276M	probably damaging	Het
Mdga2	T	A	12: 66,597,349 (GRCm39)	N715I	probably damaging	Het
Mfap5	T	A	6: 122,503,746 (GRCm39)	S103R	possibly damaging	Het
Nckap1	C	T	2: 80,348,326 (GRCm39)	V876M	probably damaging	Het
Ncor1	A	T	11: 62,224,485 (GRCm39)		probably benign	Het
Nfya	G	A	17: 48,700,304 (GRCm39)	Q122*	probably null	Het
Or5h22	T	G	16: 58,895,312 (GRCm39)	I44L	probably damaging	Het
Pcdhb19	T	A	18: 37,631,861 (GRCm39)	L552Q	probably damaging	Het
Psmd2	T	A	16: 20,473,397 (GRCm39)	S153T	probably benign	Het
Ptpn4	T	C	1: 119,610,452 (GRCm39)	Y685C	probably damaging	Het
Rad54l2	T	C	9: 106,597,575 (GRCm39)	R144G	probably damaging	Het
S1pr4	A	C	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Stx2	G	A	5: 129,065,894 (GRCm39)	A254V	probably damaging	Het
Sumf2	G	T	5: 129,888,711 (GRCm39)	G216C	probably damaging	Het
Tbc1d32	A	G	10: 56,100,715 (GRCm39)	S88P	probably benign	Het
Trem1	T	A	17: 48,539,824 (GRCm39)	M1K	probably null	Het
Trmt1l	T	C	1: 151,325,757 (GRCm39)	Y401H	probably damaging	Het
Ttc22	A	T	4: 106,480,135 (GRCm39)	M130L	probably damaging	Het
Wnk1	T	C	6: 119,940,289 (GRCm39)	E816G	probably damaging	Het
Wnt9b	C	T	11: 103,622,908 (GRCm39)	G165D	probably damaging	Het
Zscan21	A	G	5: 138,131,645 (GRCm39)	T390A	probably damaging	Het
Zswim7	G	T	11: 62,159,581 (GRCm39)	C85*	probably null	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
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
R1827:Nup210l	UTSW	3	90,061,864 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16