Mutagenetix > Incidental Mutation

Incidental Mutation 'R9523:Nup210l'

718997

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: 0.432) question?

Stock #

R9523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90011439-90119355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90107173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1570 (P1570L)

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: P1570L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: P1570L

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: P1570L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: P1570L

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: 98.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,687,057 (GRCm39)	T15A	possibly damaging	Het
2010315B03Rik	G	T	9: 124,056,652 (GRCm39)	Q91K		Het
2210408I21Rik	A	G	13: 77,407,988 (GRCm39)	N419S	possibly damaging	Het
Abhd2	A	G	7: 78,998,020 (GRCm39)	E184G	probably damaging	Het
Adgrg3	T	C	8: 95,766,186 (GRCm39)	I339T	probably benign	Het
Adgrv1	C	T	13: 81,567,178 (GRCm39)	A5332T		Het
Akap13	T	C	7: 75,293,193 (GRCm39)	V42A		Het
Akap6	A	G	12: 52,842,672 (GRCm39)	T7A	probably benign	Het
Apob	A	T	12: 8,052,069 (GRCm39)	D1170V	probably damaging	Het
Atad1	A	G	19: 32,684,323 (GRCm39)	I25T	possibly damaging	Het
Atp4b	G	T	8: 13,436,746 (GRCm39)	N255K	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Bpnt1	T	A	1: 185,077,584 (GRCm39)	C100S	probably damaging	Het
C1rl	C	T	6: 124,484,054 (GRCm39)	L203F	probably benign	Het
Clasp2	T	A	9: 113,705,372 (GRCm39)	V576D	probably damaging	Het
Col8a2	A	G	4: 126,205,273 (GRCm39)	T428A	unknown	Het
Copg2	T	A	6: 30,749,505 (GRCm39)		probably null	Het
Cpn2	C	T	16: 30,078,759 (GRCm39)	R314H	possibly damaging	Het
Cpt2	G	A	4: 107,764,354 (GRCm39)	A470V	probably damaging	Het
Cyp2a4	C	T	7: 26,011,688 (GRCm39)	T303I	probably damaging	Het
Ddx42	A	G	11: 106,132,606 (GRCm39)	D543G	probably benign	Het
Dip2a	T	C	10: 76,112,438 (GRCm39)	T1087A	probably damaging	Het
Fam219b	T	C	9: 57,444,919 (GRCm39)	F6L	probably benign	Het
Fsip2	G	T	2: 82,807,972 (GRCm39)	L1430F	probably damaging	Het
Fstl4	A	G	11: 53,075,466 (GRCm39)	I573V	probably benign	Het
Ggnbp2	A	T	11: 84,745,188 (GRCm39)	S182R	probably benign	Het
Glud1	A	G	14: 34,061,931 (GRCm39)	T484A	probably benign	Het
Gm19410	A	G	8: 36,257,608 (GRCm39)	N682S	probably benign	Het
Gnao1	T	C	8: 94,622,861 (GRCm39)	I55T		Het
H2bc15	G	T	13: 21,938,305 (GRCm39)	A5S	unknown	Het
Hcn4	C	T	9: 58,766,809 (GRCm39)	S790L	unknown	Het
Ighv3-4	T	C	12: 114,217,393 (GRCm39)	E66G	probably damaging	Het
Igkv6-23	A	G	6: 70,237,526 (GRCm39)	S72P	probably damaging	Het
Kdm7a	A	C	6: 39,147,767 (GRCm39)	Y213D	probably damaging	Het
Klk15	T	G	7: 43,587,770 (GRCm39)	M66R	possibly damaging	Het
Lce1d	T	A	3: 92,593,363 (GRCm39)	T17S	unknown	Het
Lipt1	T	C	1: 37,914,534 (GRCm39)	Y197H	probably damaging	Het
Lrp1b	A	T	2: 41,660,978 (GRCm39)	D157E		Het
Ltbp1	A	G	17: 75,697,498 (GRCm39)	T1697A	probably benign	Het
Marchf6	T	C	15: 31,498,845 (GRCm39)	T151A	probably benign	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Myo5b	A	G	18: 74,861,968 (GRCm39)	N1320S	possibly damaging	Het
Myt1l	T	A	12: 29,877,611 (GRCm39)	S421T	unknown	Het
Nav1	A	T	1: 135,379,929 (GRCm39)	M1531K	unknown	Het
Nlrp4e	A	G	7: 23,054,636 (GRCm39)	D930G	probably benign	Het
Or51a6	A	G	7: 102,604,464 (GRCm39)	S115P	probably damaging	Het
Or5b112	G	T	19: 13,319,848 (GRCm39)	C242F	probably damaging	Het
Or5b120	A	T	19: 13,479,712 (GRCm39)	M2L	probably benign	Het
Or5d47	A	T	2: 87,804,945 (GRCm39)	Y21*	probably null	Het
Or6k14	A	T	1: 173,927,608 (GRCm39)	I195F	probably damaging	Het
Or7g30	G	A	9: 19,352,580 (GRCm39)	V124I	possibly damaging	Het
Oxct2b	A	T	4: 123,011,483 (GRCm39)	I468F	probably damaging	Het
Pcdhgb7	T	A	18: 37,886,636 (GRCm39)	L602Q	probably damaging	Het
Prrc2c	A	G	1: 162,525,298 (GRCm39)	V1862A	unknown	Het
Rad54l2	C	T	9: 106,573,151 (GRCm39)	R1110H	probably damaging	Het
Rere	T	A	4: 150,703,636 (GRCm39)	H180Q	probably damaging	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Sfxn4	T	C	19: 60,845,807 (GRCm39)	D63G	probably damaging	Het
Strn	C	T	17: 78,967,575 (GRCm39)	A579T	probably benign	Het
Stxbp3	A	G	3: 108,747,756 (GRCm39)	L10P	probably damaging	Het
Swi5	T	C	2: 32,170,739 (GRCm39)	M95V	possibly damaging	Het
Tln2	T	C	9: 67,165,766 (GRCm39)	Y1027C	probably damaging	Het
Tmem65	A	G	15: 58,662,002 (GRCm39)		probably null	Het
Tox4	C	T	14: 52,529,166 (GRCm39)	P376S	probably benign	Het
Tsg101	C	T	7: 46,542,308 (GRCm39)	G215D	possibly damaging	Het
Utp18	A	G	11: 93,768,833 (GRCm39)	S226P	probably damaging	Het
Vipr2	T	C	12: 116,093,788 (GRCm39)	S174P	probably damaging	Het
Vmn2r24	G	T	6: 123,763,950 (GRCm39)	V276F	possibly damaging	Het
Wdr26	T	C	1: 181,013,620 (GRCm39)	R418G	probably benign	Het
Zfp235	T	C	7: 23,840,381 (GRCm39)	Y267H	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
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'- TGCATGCACCCACATTCCC -3'
(R):5'- AGGTATTTACTACTAAGCATAGCCA -3'

Sequencing Primer
(F):5'- CTGAGGACAGCTACAGTGTACTTAC -3'
(R):5'- CTGTGGAGAAACTCCTTACC -3'

Posted On

2022-07-18