Mutagenetix > Incidental Mutation

Incidental Mutation 'R4290:Nup210l'

322990

Institutional Source

Beutler Lab

Gene Symbol

Nup210l

Ensembl Gene

ENSMUSG00000027939

Gene Name

nucleoporin 210-like

Synonyms

4930548O11Rik

MMRRC Submission

041655-MU

Accession Numbers

Essential gene?

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

Stock #

R4290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90011439-90119355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90114633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1736 (H1736L)

Ref Sequence

ENSEMBL: ENSMUSP00000143368 (fasta)

Gene Model

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

AlphaFold

Q9D2F7

Predicted Effect

probably benign
Transcript: ENSMUST00000029548
AA Change: H1736L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: H1736L

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
AA Change: H1736L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: H1736L

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

0.0859

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (73/73)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,539,738 (GRCm39)	N1545S	probably benign	Het
Arid1b	C	A	17: 5,090,938 (GRCm39)	S546R	probably damaging	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Auts2	A	G	5: 131,503,809 (GRCm39)	S225P	probably damaging	Het
Bclaf1	A	G	10: 20,199,524 (GRCm39)	Q20R	probably damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cfap221	A	G	1: 119,858,650 (GRCm39)	S728P	probably benign	Het
Chrna9	A	G	5: 66,134,481 (GRCm39)	K444R	probably benign	Het
Cox10	A	T	11: 63,855,081 (GRCm39)	V400E	probably benign	Het
Dact2	C	T	17: 14,416,833 (GRCm39)	E456K	probably benign	Het
Ddr2	A	G	1: 169,818,178 (GRCm39)	V443A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
En1	C	A	1: 120,531,486 (GRCm39)	A242E	unknown	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm6124	A	T	7: 38,872,195 (GRCm39)		noncoding transcript	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,190,583 (GRCm39)	M48L	possibly damaging	Het
Hepacam2	T	A	6: 3,487,237 (GRCm39)	Y40F	probably benign	Het
Ift80	A	G	3: 68,871,023 (GRCm39)	I191T	probably damaging	Het
Il19	T	A	1: 130,862,750 (GRCm39)	T58S	possibly damaging	Het
Itga2	G	A	13: 115,002,709 (GRCm39)	R594C	probably damaging	Het
Itga5	C	T	15: 103,260,684 (GRCm39)		probably null	Het
Kcna1	T	C	6: 126,618,838 (GRCm39)	D494G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kmt2b	A	T	7: 30,281,261 (GRCm39)		probably null	Het
Kmt5b	T	C	19: 3,852,193 (GRCm39)	Y125H	possibly damaging	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Man1c1	T	A	4: 134,291,096 (GRCm39)	D600V	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,217 (GRCm39)	V203A	probably damaging	Het
Mettl5	T	C	2: 69,711,176 (GRCm39)	N114S	probably benign	Het
Mindy2	T	A	9: 70,538,376 (GRCm39)	R320W	probably damaging	Het
Nrip1	A	G	16: 76,088,876 (GRCm39)	S894P	probably benign	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2aj4	A	T	16: 19,384,994 (GRCm39)	M213K	possibly damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or2z9	A	G	8: 72,853,612 (GRCm39)	T3A	probably benign	Het
Or4e1	T	C	14: 52,701,442 (GRCm39)	N8S	probably damaging	Het
Or6b6	A	C	7: 106,570,918 (GRCm39)	L211R	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Ppp4c	A	G	7: 126,391,231 (GRCm39)		probably null	Het
Rps15a-ps1	A	G	10: 106,028,496 (GRCm39)		noncoding transcript	Het
Rps27a	A	G	11: 29,495,933 (GRCm39)	Y140H	probably benign	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Ttc19	A	G	11: 62,176,753 (GRCm39)		probably null	Het
Ttf2	T	C	3: 100,870,077 (GRCm39)	D332G	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vcan	A	G	13: 89,873,605 (GRCm39)	V83A	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Xndc1	T	A	7: 101,730,694 (GRCm39)	L288M	possibly damaging	Het
Zfa-ps	A	T	10: 52,419,807 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- GCATGCTCCGTGACTATCTCAG -3'
(R):5'- AGCTCACCTGCACCAGATG -3'

Sequencing Primer
(F):5'- CTGGAGCTCACTTTGTAGACCAG -3'
(R):5'- GATGACATCTGCTGGAAG -3'

Posted On

2015-06-20