Mutagenetix > Incidental Mutation

Incidental Mutation 'R9660:Nup210l'

727499

Institutional Source

Beutler Lab

Gene Symbol

Nup210l

Ensembl Gene

ENSMUSG00000027939

Gene Name

nucleoporin 210-like

Synonyms

4930548O11Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90011439-90119355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90105402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1517 (T1517A)

Ref Sequence

ENSEMBL: ENSMUSP00000029548 (fasta)

Gene Model

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

AlphaFold

Q9D2F7

Predicted Effect

probably benign
Transcript: ENSMUST00000029548
AA Change: T1517A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: T1517A

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: T1517A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: T1517A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,478 (GRCm39)	M819V	probably benign	Het
Abca5	T	A	11: 110,168,248 (GRCm39)	T1461S	possibly damaging	Het
Actl6b	C	T	5: 137,562,766 (GRCm39)	R161C	probably damaging	Het
Aoc3	C	G	11: 101,221,914 (GRCm39)	P50R	possibly damaging	Het
Atr	G	A	9: 95,797,050 (GRCm39)	A1698T	probably benign	Het
Caml	T	A	13: 55,779,670 (GRCm39)	S248T	possibly damaging	Het
Cdh11	C	T	8: 103,384,879 (GRCm39)	G399S	possibly damaging	Het
Chrna10	G	T	7: 101,761,416 (GRCm39)	L392I	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Copg1	A	G	6: 87,879,225 (GRCm39)	I424V	probably damaging	Het
Cwh43	A	T	5: 73,565,629 (GRCm39)	N65Y	possibly damaging	Het
Defb1	A	G	8: 22,284,486 (GRCm39)	Y35C	probably damaging	Het
Disp2	T	C	2: 118,620,627 (GRCm39)	V453A	probably benign	Het
Dpp9	A	G	17: 56,494,458 (GRCm39)	Y834H	probably damaging	Het
Emsy	A	G	7: 98,262,285 (GRCm39)	I598T	possibly damaging	Het
Entpd2	C	T	2: 25,288,153 (GRCm39)	R126C	probably damaging	Het
Fbxl17	A	T	17: 63,806,426 (GRCm39)	M196K	probably benign	Het
Gcc1	T	C	6: 28,420,544 (GRCm39)	R258G	probably damaging	Het
Gga2	A	T	7: 121,606,494 (GRCm39)	M157K	possibly damaging	Het
Gna11	T	C	10: 81,370,918 (GRCm39)	N106S	probably benign	Het
Gtf3c1	A	C	7: 125,262,199 (GRCm39)	S1116A	possibly damaging	Het
Gucy2d	C	A	7: 98,099,064 (GRCm39)	D294E	probably damaging	Het
Igkv12-46	G	T	6: 69,741,967 (GRCm39)	P4T	possibly damaging	Het
Iqcf5	A	T	9: 106,393,168 (GRCm39)	I142L	probably damaging	Het
Klhdc9	A	G	1: 171,187,357 (GRCm39)	S214P	probably damaging	Het
Kmt2e	T	C	5: 23,683,617 (GRCm39)	Y292H	probably damaging	Het
Lgr6	A	G	1: 134,915,245 (GRCm39)	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,618,228 (GRCm39)	N909S	probably benign	Het
Ly75	A	G	2: 60,154,184 (GRCm39)	S1088P	probably damaging	Het
Mei1	G	A	15: 81,966,098 (GRCm39)	G240D		Het
Miox	A	T	15: 89,218,703 (GRCm39)		probably benign	Het
Myo1e	A	G	9: 70,223,924 (GRCm39)	Y128C	probably damaging	Het
Necab2	T	C	8: 120,189,403 (GRCm39)	V191A	possibly damaging	Het
Nlrp9a	T	A	7: 26,256,915 (GRCm39)	Y178N	probably damaging	Het
Nr4a3	A	G	4: 48,051,353 (GRCm39)	T36A	probably benign	Het
Or4a27	T	C	2: 88,559,142 (GRCm39)	K267R	probably damaging	Het
Or4g17	T	G	2: 111,210,239 (GRCm39)	I298R	probably damaging	Het
Or4p23	T	C	2: 88,576,872 (GRCm39)	Y120C	probably damaging	Het
Or51h7	C	T	7: 102,591,259 (GRCm39)	C175Y	probably damaging	Het
Pcnx2	A	T	8: 126,487,592 (GRCm39)	S1804T	probably damaging	Het
Pdcd11	T	A	19: 47,082,191 (GRCm39)	V35D	possibly damaging	Het
Pde10a	C	A	17: 9,170,370 (GRCm39)	T347K	probably damaging	Het
Rcc1l	A	G	5: 134,182,977 (GRCm39)	Y432H	probably benign	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Ripor3	T	A	2: 167,831,646 (GRCm39)	D385V	probably damaging	Het
Rrbp1	T	C	2: 143,831,178 (GRCm39)	K330E	probably damaging	Het
Ryr3	T	G	2: 112,664,074 (GRCm39)	D1759A	probably benign	Het
Scube3	A	G	17: 28,371,414 (GRCm39)	D43G	probably benign	Het
Sec24b	A	G	3: 129,790,422 (GRCm39)	I701T	probably damaging	Het
Setd5	G	T	6: 113,128,366 (GRCm39)	V1440L	probably benign	Het
Sik3	A	G	9: 46,106,142 (GRCm39)	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc1a6	T	A	10: 78,648,698 (GRCm39)	M473K	probably benign	Het
Spag16	A	G	1: 69,962,842 (GRCm39)	R330G	probably benign	Het
Spag6	C	A	2: 18,704,047 (GRCm39)	Q32K	probably benign	Het
Sspo	G	A	6: 48,432,707 (GRCm39)	G861D	probably damaging	Het
Togaram2	T	A	17: 72,024,365 (GRCm39)	S850T	probably damaging	Het
Trbv15	A	T	6: 41,118,550 (GRCm39)	E102V	possibly damaging	Het
Trim43b	G	T	9: 88,973,395 (GRCm39)	H113N	probably benign	Het
Trpm2	T	A	10: 77,766,389 (GRCm39)	I877L	probably benign	Het
Ttn	T	C	2: 76,599,152 (GRCm39)	I19286V	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb6	A	G	18: 67,534,671 (GRCm39)	H190R	probably benign	Het
Vmn1r214	T	C	13: 23,219,007 (GRCm39)	V167A	probably benign	Het
Vwf	C	A	6: 125,568,670 (GRCm39)	L398I	possibly damaging	Het
Zfp9	G	T	6: 118,443,851 (GRCm39)	A58E	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
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
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'- GCTGCTGGCATGATATAGGAAG -3'
(R):5'- TGTTAGCAAATGCACTTCCAC -3'

Sequencing Primer
(F):5'- TATAGGAAGGGGAATCTGACATTC -3'
(R):5'- GTTAGCAAATGCACTTCCACCCTAG -3'

Posted On

2022-10-06