Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Nup210l'

452477

Institutional Source

Beutler Lab

Gene Symbol

Nup210l

Ensembl Gene

ENSMUSG00000027939

Gene Name

nucleoporin 210-like

Synonyms

4930548O11Rik

MMRRC Submission

043344-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R5726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90011439-90119355 bp(+) (GRCm39)

Type of Mutation

splice site (23 bp from exon)

DNA Base Change (assembly)

A to T at 90036514 bp (GRCm39)

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 null
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

noncoding transcript
Transcript: ENSMUST00000082996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198020

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,835,832 (GRCm39)	K254E	probably damaging	Het
Aak1	C	T	6: 86,902,106 (GRCm39)	Q92*	probably null	Het
Acss3	T	C	10: 106,959,183 (GRCm39)	T88A	possibly damaging	Het
Adcy4	A	T	14: 56,021,118 (GRCm39)	S6R	probably damaging	Het
Aldh1l2	T	C	10: 83,348,170 (GRCm39)	E311G	possibly damaging	Het
Arhgap25	C	T	6: 87,440,441 (GRCm39)	S402N	probably benign	Het
Btn1a1	T	A	13: 23,643,522 (GRCm39)	D309V	probably damaging	Het
Cdh23	C	T	10: 60,243,259 (GRCm39)	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,529,285 (GRCm39)		probably benign	Het
Cln3	T	C	7: 126,174,673 (GRCm39)	T276A	probably null	Het
CN725425	A	G	15: 91,144,706 (GRCm39)	E523G	possibly damaging	Het
Crppa	T	C	12: 36,597,829 (GRCm39)	V320A	probably damaging	Het
Cspg4	A	T	9: 56,793,188 (GRCm39)	T308S	probably damaging	Het
Dgkh	G	T	14: 78,862,342 (GRCm39)	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,273,613 (GRCm39)	D846G	probably damaging	Het
Fmo4	A	G	1: 162,635,828 (GRCm39)		probably null	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Fxr2	T	C	11: 69,524,172 (GRCm39)	V10A	probably benign	Het
Gm10271	T	C	10: 116,792,792 (GRCm39)		probably null	Het
Gsk3b	T	C	16: 38,028,498 (GRCm39)		probably benign	Het
Ift43	T	A	12: 86,208,957 (GRCm39)	D169E	probably damaging	Het
Ift57	T	A	16: 49,519,861 (GRCm39)	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,860,294 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,339,491 (GRCm39)	D1140G	probably damaging	Het
Map1a	G	A	2: 121,135,546 (GRCm39)	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,401,362 (GRCm39)	G611C	probably damaging	Het
Mical1	A	G	10: 41,359,692 (GRCm39)		probably benign	Het
Myh14	A	G	7: 44,292,886 (GRCm39)		probably null	Het
Myh8	T	A	11: 67,185,392 (GRCm39)	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,459,420 (GRCm39)	Q817K	probably benign	Het
Nin	A	C	12: 70,124,953 (GRCm39)	V123G	probably damaging	Het
Nup160	A	G	2: 90,548,195 (GRCm39)	D976G	probably damaging	Het
Or5an1c	A	G	19: 12,218,644 (GRCm39)	I127T	probably damaging	Het
Phf14	T	C	6: 11,933,537 (GRCm39)		probably benign	Het
Podxl2	T	C	6: 88,825,721 (GRCm39)	D400G	probably damaging	Het
Pygl	C	T	12: 70,237,916 (GRCm39)	W707*	probably null	Het
Rnf19b	T	C	4: 128,965,685 (GRCm39)	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,307,284 (GRCm39)	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,362,913 (GRCm39)	R569H	probably damaging	Het
Sdk2	A	G	11: 113,742,626 (GRCm39)	L761P	probably damaging	Het
Shroom3	C	T	5: 93,090,864 (GRCm39)	P1124S	probably benign	Het
Sirt4	A	G	5: 115,617,705 (GRCm39)	V317A	probably benign	Het
Skic3	T	C	13: 76,266,466 (GRCm39)	Y238H	probably damaging	Het
Slc12a2	G	T	18: 58,029,426 (GRCm39)	A271S	probably benign	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Snap23	T	A	2: 120,414,752 (GRCm39)		probably benign	Het
Sra1	C	T	18: 36,803,226 (GRCm39)		probably benign	Het
Srbd1	C	T	17: 86,428,157 (GRCm39)	D359N	possibly damaging	Het
Srp19	A	G	18: 34,464,826 (GRCm39)	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,238,003 (GRCm39)	S205P	probably damaging	Het
Sv2b	T	C	7: 74,773,962 (GRCm39)	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,103,479 (GRCm39)	V518M	probably damaging	Het
Tlr4	A	G	4: 66,758,652 (GRCm39)	K482E	probably benign	Het
Tpm1	G	A	9: 66,930,694 (GRCm39)	L310F	probably damaging	Het
Trpm6	A	G	19: 18,830,981 (GRCm39)	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,742,757 (GRCm39)	L65*	probably null	Het
Ttc39c	C	A	18: 12,830,992 (GRCm39)	A284D	probably damaging	Het
Txndc16	G	A	14: 45,403,221 (GRCm39)	H297Y	probably benign	Het
Utrn	A	T	10: 12,545,550 (GRCm39)	D1698E	probably benign	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,365,486 (GRCm39)	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,208,315 (GRCm39)	V721I	probably damaging	Het
Zbtb18	A	G	1: 177,276,119 (GRCm39)	H484R	probably damaging	Het
Zc3h13	T	A	14: 75,568,269 (GRCm39)	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,468,381 (GRCm39)	D2846E	probably benign	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
IGL02348:Nup210l	APN	3	90,011,471 (GRCm39)	utr 5 prime	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCTCAGGCTTTTCTTAGAAGTATTC -3'
(R):5'- GCACAGGCATGGCTACAAAG -3'

Sequencing Primer
(F):5'- AAAGACAGGCTTTTTATTGTATGGG -3'
(R):5'- TGGCTACAAAGAAAACCTGTCTCAG -3'

Posted On

2017-01-03