Mutagenetix > Incidental Mutation

Incidental Mutation 'R8827:Nup50l'

673533

Institutional Source

Beutler Lab

Gene Symbol

Nup50l

Ensembl Gene

ENSMUSG00000072878

Gene Name

nucleoporin 50 like

Synonyms

1700123L14Rik

MMRRC Submission

068658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R8827 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96141484-96143186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96142293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 250 (N250K)

Ref Sequence

ENSEMBL: ENSMUSP00000087515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075080] [ENSMUST00000090061] [ENSMUST00000122120]

AlphaFold

Q3V2K7

Predicted Effect

probably benign
Transcript: ENSMUST00000075080

SMART Domains

Protein: ENSMUSP00000074589
Gene: ENSMUSG00000059187

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:TAFA	40	129	3.9e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090061
AA Change: N250K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: N250K

Domain	Start	End	E-Value	Type
Pfam:NUP50	2	73	1.8e-15	PFAM
low complexity region	84	94	N/A	INTRINSIC
RanBD	315	438	2.69e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122120

SMART Domains

Protein: ENSMUSP00000113152
Gene: ENSMUSG00000059187

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:TAFA	41	129	4e-50	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,839,324 (GRCm39)	I810V	probably benign	Het
Adcy7	T	C	8: 89,036,327 (GRCm39)	F128S	possibly damaging	Het
Ankhd1	C	T	18: 36,757,633 (GRCm39)	Q188*	probably null	Het
Asxl2	A	T	12: 3,550,501 (GRCm39)	I748L	probably benign	Het
Atp8b2	T	C	3: 89,853,307 (GRCm39)	N70S		Het
Bmp1	A	G	14: 70,728,082 (GRCm39)	Y616H	probably damaging	Het
Brap	T	A	5: 121,810,261 (GRCm39)	D248E	probably benign	Het
Ccdc13	G	A	9: 121,645,765 (GRCm39)	S294L	probably benign	Het
Cdkl1	T	C	12: 69,794,123 (GRCm39)	Y338C	probably benign	Het
Cfap54	A	T	10: 92,774,110 (GRCm39)	S1993T	unknown	Het
Chl1	G	T	6: 103,670,111 (GRCm39)	M500I	probably benign	Het
Cntn3	G	C	6: 102,246,094 (GRCm39)	L352V	probably benign	Het
Cog6	T	C	3: 52,890,535 (GRCm39)	D635G	probably benign	Het
Col22a1	C	A	15: 71,774,665 (GRCm39)		probably null	Het
Cyp3a16	A	T	5: 145,387,008 (GRCm39)	D327E	probably benign	Het
D6Ertd527e	A	T	6: 87,088,226 (GRCm39)	S130C	unknown	Het
Dhodh	T	C	8: 110,334,928 (GRCm39)		probably benign	Het
Dync2li1	C	T	17: 84,955,079 (GRCm39)	S246L	possibly damaging	Het
Eif3c	A	T	7: 126,157,894 (GRCm39)	F316Y	probably damaging	Het
Esp34	A	T	17: 38,865,091 (GRCm39)		probably benign	Het
Fam98a	T	C	17: 75,851,824 (GRCm39)	M86V	possibly damaging	Het
Gm29394	G	T	15: 57,932,717 (GRCm39)	Q7K	probably damaging	Het
Gtf2i	C	T	5: 134,269,096 (GRCm39)		probably null	Het
H2bc27	C	T	11: 58,839,917 (GRCm39)	P51L	probably benign	Het
Hecw1	A	G	13: 14,438,720 (GRCm39)	Y888H	probably damaging	Het
Kcnma1	A	T	14: 23,417,548 (GRCm39)	W894R	probably damaging	Het
Klhl25	C	A	7: 75,516,391 (GRCm39)	D432E	possibly damaging	Het
Klhl7	G	A	5: 24,363,635 (GRCm39)		probably null	Het
Lamc1	A	T	1: 153,097,424 (GRCm39)	L1540Q	probably damaging	Het
Map3k5	T	A	10: 19,902,003 (GRCm39)	V358E	probably damaging	Het
Map4k5	C	T	12: 69,903,635 (GRCm39)	D57N	possibly damaging	Het
Mpped2	T	C	2: 106,691,928 (GRCm39)	M211T	possibly damaging	Het
Nat9	T	C	11: 115,075,339 (GRCm39)	T101A	probably benign	Het
Nprl3	A	T	11: 32,184,742 (GRCm39)	F447L	probably benign	Het
Or4p22	T	C	2: 88,317,165 (GRCm39)	S30P	probably damaging	Het
Or5h24	G	A	16: 58,919,061 (GRCm39)	T98I	unknown	Het
Or5w16	C	T	2: 87,576,777 (GRCm39)	P79L	possibly damaging	Het
Orc3	A	T	4: 34,605,569 (GRCm39)	F104Y	probably benign	Het
Pcdha6	T	A	18: 37,102,802 (GRCm39)	V665E	probably damaging	Het
Pdpk1	T	C	17: 24,307,191 (GRCm39)	D380G	probably benign	Het
Phkg1	T	A	5: 129,893,894 (GRCm39)	E280D	probably benign	Het
Pkdrej	T	A	15: 85,699,732 (GRCm39)	Y2068F	possibly damaging	Het
Plekhg5	A	G	4: 152,191,462 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,058,380 (GRCm39)	P222L	probably damaging	Het
Prdm1	A	T	10: 44,334,476 (GRCm39)	V10E	probably benign	Het
Prdm6	G	T	18: 53,701,267 (GRCm39)	Q513H	probably damaging	Het
Pros1	T	C	16: 62,746,827 (GRCm39)	V593A	probably benign	Het
Radil	T	C	5: 142,493,859 (GRCm39)	H250R	probably damaging	Het
Rasa2	C	T	9: 96,434,403 (GRCm39)	R628Q	probably damaging	Het
Ryr2	T	C	13: 11,572,934 (GRCm39)	E4884G	possibly damaging	Het
Shh	A	G	5: 28,663,125 (GRCm39)	S348P	probably damaging	Het
Slc1a4	A	T	11: 20,270,237 (GRCm39)		probably benign	Het
Slc32a1	A	C	2: 158,453,274 (GRCm39)	D38A	probably damaging	Het
Slc35f3	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,780 (GRCm39)		probably benign	Het
Slc45a4	A	T	15: 73,458,316 (GRCm39)	I411N	probably benign	Het
Slc49a4	A	T	16: 35,554,320 (GRCm39)	C274S	probably benign	Het
Slc7a10	C	A	7: 34,897,313 (GRCm39)	S248Y	probably damaging	Het
Smc3	T	A	19: 53,611,085 (GRCm39)	D258E	probably benign	Het
Spata31h1	T	A	10: 82,129,617 (GRCm39)	Q1131L	probably benign	Het
Sphk1	A	G	11: 116,426,590 (GRCm39)	D182G	probably damaging	Het
Srgap3	A	G	6: 112,716,302 (GRCm39)	Y633H	probably damaging	Het
Sspo	T	G	6: 48,434,606 (GRCm39)	F1033V	possibly damaging	Het
Syne2	T	C	12: 76,095,357 (GRCm39)	V488A	probably benign	Het
Tead1	A	C	7: 112,475,449 (GRCm39)	K299N	probably damaging	Het
Tmem150c	A	C	5: 100,240,654 (GRCm39)	S69R	probably damaging	Het
Tnfaip3	T	A	10: 18,880,795 (GRCm39)	K424M	probably damaging	Het
Trib3	A	G	2: 152,180,188 (GRCm39)	V335A	possibly damaging	Het
Ttc39c	G	A	18: 12,828,436 (GRCm39)	V199I	probably benign	Het
Vangl1	A	T	3: 102,070,736 (GRCm39)	F400Y	probably damaging	Het
Vmn2r106	A	T	17: 20,487,868 (GRCm39)	S844T	probably benign	Het
Wwtr1	A	G	3: 57,482,616 (GRCm39)	V77A	probably damaging	Het
Yju2b	T	A	8: 84,986,987 (GRCm39)	Q170L	possibly damaging	Het
Zc3h4	C	A	7: 16,163,123 (GRCm39)	P500T	unknown	Het
Zfand2a	C	T	5: 139,460,607 (GRCm39)		probably null	Het
Zfr2	A	G	10: 81,078,619 (GRCm39)	T284A	probably benign	Het

Other mutations in Nup50l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01656:Nup50l	APN	6	96,142,675 (GRCm39)	missense	possibly damaging	0.48
IGL02347:Nup50l	APN	6	96,142,511 (GRCm39)	missense	probably damaging	1.00
IGL02532:Nup50l	APN	6	96,141,771 (GRCm39)	missense	probably damaging	0.99
PIT4283001:Nup50l	UTSW	6	96,142,696 (GRCm39)	missense	probably benign
R0282:Nup50l	UTSW	6	96,141,797 (GRCm39)	missense	probably benign	0.02
R0946:Nup50l	UTSW	6	96,142,677 (GRCm39)	missense	possibly damaging	0.68
R1275:Nup50l	UTSW	6	96,142,099 (GRCm39)	missense	probably benign	0.03
R1605:Nup50l	UTSW	6	96,141,793 (GRCm39)	missense	probably benign	0.34
R1610:Nup50l	UTSW	6	96,142,270 (GRCm39)	missense	probably damaging	0.98
R1959:Nup50l	UTSW	6	96,142,250 (GRCm39)	missense	possibly damaging	0.73
R1961:Nup50l	UTSW	6	96,142,250 (GRCm39)	missense	possibly damaging	0.73
R2116:Nup50l	UTSW	6	96,141,841 (GRCm39)	missense	probably damaging	0.99
R3708:Nup50l	UTSW	6	96,142,933 (GRCm39)	missense	possibly damaging	0.92
R4157:Nup50l	UTSW	6	96,142,264 (GRCm39)	missense	possibly damaging	0.86
R4285:Nup50l	UTSW	6	96,142,733 (GRCm39)	missense	probably benign	0.07
R4571:Nup50l	UTSW	6	96,141,862 (GRCm39)	missense	probably damaging	1.00
R4884:Nup50l	UTSW	6	96,141,793 (GRCm39)	missense	probably damaging	1.00
R4905:Nup50l	UTSW	6	96,142,911 (GRCm39)	missense	possibly damaging	0.77
R6454:Nup50l	UTSW	6	96,142,609 (GRCm39)	missense	possibly damaging	0.75
R6755:Nup50l	UTSW	6	96,141,953 (GRCm39)	missense	probably benign	0.06
R6790:Nup50l	UTSW	6	96,142,304 (GRCm39)	missense	probably benign
R6792:Nup50l	UTSW	6	96,142,096 (GRCm39)	missense	possibly damaging	0.92
R6931:Nup50l	UTSW	6	96,142,529 (GRCm39)	missense	possibly damaging	0.86
R7081:Nup50l	UTSW	6	96,142,798 (GRCm39)	missense	possibly damaging	0.68
R7194:Nup50l	UTSW	6	96,141,756 (GRCm39)	missense	probably benign	0.04
R7584:Nup50l	UTSW	6	96,142,373 (GRCm39)	missense	probably benign	0.41
R7938:Nup50l	UTSW	6	96,141,866 (GRCm39)	missense	possibly damaging	0.66
R7983:Nup50l	UTSW	6	96,142,888 (GRCm39)	missense	probably damaging	0.96
R8052:Nup50l	UTSW	6	96,142,084 (GRCm39)	intron	probably benign
R8052:Nup50l	UTSW	6	96,142,078 (GRCm39)	intron	probably benign
R8303:Nup50l	UTSW	6	96,142,702 (GRCm39)	missense	probably benign	0.41
R8351:Nup50l	UTSW	6	96,142,655 (GRCm39)	missense	probably benign	0.12
R8785:Nup50l	UTSW	6	96,141,871 (GRCm39)	missense	possibly damaging	0.87
R9280:Nup50l	UTSW	6	96,141,982 (GRCm39)	missense	probably damaging	1.00
R9403:Nup50l	UTSW	6	96,142,280 (GRCm39)	missense	probably benign	0.01
R9470:Nup50l	UTSW	6	96,142,474 (GRCm39)	missense	possibly damaging	0.56
R9600:Nup50l	UTSW	6	96,142,156 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GAGCTTGCATTCATCACTGTTG -3'
(R):5'- CGCCGGTGTTTAAGCAGTATG -3'

Sequencing Primer
(F):5'- GCCTTGTGCTGGACTCTCTAGAG -3'
(R):5'- GAAATACTTGGCTGCCATCG -3'

Posted On

2021-07-15