Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02347:Nup50l'

289330

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup50l

Ensembl Gene

ENSMUSG00000072878

Gene Name

nucleoporin 50 like

Synonyms

1700123L14Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02347

Quality Score

Status

Chromosome

Chromosomal Location

96141484-96143186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96142511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 178 (Y178N)

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 damaging
Transcript: ENSMUST00000090061
AA Change: Y178N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: Y178N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,452,835 (GRCm39)	K35*	probably null	Het
Adad2	G	T	8: 120,343,408 (GRCm39)	G546V	probably damaging	Het
Bccip	A	G	7: 133,311,105 (GRCm39)	K7E	probably benign	Het
C8b	G	A	4: 104,644,151 (GRCm39)	E273K	probably benign	Het
Car12	T	A	9: 66,671,629 (GRCm39)	V352D	possibly damaging	Het
Cyp2d11	G	A	15: 82,274,681 (GRCm39)	R299C	probably benign	Het
Dnah10	A	C	5: 124,910,487 (GRCm39)		probably null	Het
Eddm13	A	G	7: 6,272,883 (GRCm39)	I79M	possibly damaging	Het
Egf	A	T	3: 129,472,026 (GRCm39)	N1199K	probably benign	Het
Ehbp1l1	A	G	19: 5,769,600 (GRCm39)	W568R	possibly damaging	Het
Eif1ad14	T	C	12: 87,886,359 (GRCm39)	D90G	probably damaging	Het
Emc3	A	G	6: 113,497,533 (GRCm39)	M106T	possibly damaging	Het
Fam13b	T	C	18: 34,587,757 (GRCm39)	K514E	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Frg2f1	A	C	4: 119,387,929 (GRCm39)	L190R	probably damaging	Het
Frmpd1	A	G	4: 45,270,023 (GRCm39)		probably null	Het
Glis3	A	G	19: 28,509,283 (GRCm39)	F234L	probably benign	Het
Grap2	T	C	15: 80,530,557 (GRCm39)		probably benign	Het
H2-M10.2	T	A	17: 36,596,505 (GRCm39)	E113D	probably benign	Het
Itgb6	T	C	2: 60,441,756 (GRCm39)	T685A	probably benign	Het
Mrpl19	A	T	6: 81,938,992 (GRCm39)	M270K	probably damaging	Het
Msantd4	G	T	9: 4,384,734 (GRCm39)		probably benign	Het
Msr1	G	T	8: 40,085,778 (GRCm39)	T34K	probably damaging	Het
Npc1	C	T	18: 12,332,691 (GRCm39)	V780M	probably benign	Het
Nsun6	A	G	2: 15,034,831 (GRCm39)		probably benign	Het
Nt5c2	A	G	19: 46,912,695 (GRCm39)		probably benign	Het
Nucb2	A	C	7: 116,135,113 (GRCm39)	Q340P	probably benign	Het
Or2l13b	A	G	16: 19,349,529 (GRCm39)	L47P	probably damaging	Het
Or3a1b	C	T	11: 74,012,397 (GRCm39)	T94I	probably benign	Het
Osgin1	A	G	8: 120,172,277 (GRCm39)	E357G	probably benign	Het
Pabpc6	C	T	17: 9,887,993 (GRCm39)	R186K	probably benign	Het
Pex1	A	G	5: 3,653,350 (GRCm39)	K83R	probably damaging	Het
Ppid	A	G	3: 79,502,526 (GRCm39)	I82V	probably benign	Het
Pygl	C	T	12: 70,248,666 (GRCm39)	G318S	probably benign	Het
Rcn1	A	T	2: 105,229,471 (GRCm39)	V27E	probably benign	Het
Rnaseh1	A	T	12: 28,707,629 (GRCm39)		probably benign	Het
Rnf148	A	G	6: 23,654,729 (GRCm39)	V89A	probably benign	Het
Siglecf	G	A	7: 43,001,145 (GRCm39)	V38I	possibly damaging	Het
Slc13a5	T	C	11: 72,149,780 (GRCm39)		probably null	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Sos2	A	T	12: 69,643,520 (GRCm39)	D953E	probably benign	Het
Strbp	A	C	2: 37,535,660 (GRCm39)	V16G	probably benign	Het
Sycp1	A	T	3: 102,800,863 (GRCm39)	M567K	probably benign	Het
Tedc2	A	C	17: 24,439,584 (GRCm39)	V19G	probably damaging	Het
Tjp1	A	G	7: 64,950,812 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,539,564 (GRCm39)	V26147E	probably damaging	Het
Vmn1r86	A	G	7: 12,836,574 (GRCm39)	S51P	probably damaging	Het
Vmn2r83	A	G	10: 79,316,067 (GRCm39)	T488A	possibly damaging	Het
Zfp541	A	G	7: 15,817,390 (GRCm39)	Y945C	probably damaging	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
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
R8827:Nup50l	UTSW	6	96,142,293 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16