Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:Nup50l'

619106

Institutional Source

Beutler Lab

Gene Symbol

Nup50l

Ensembl Gene

ENSMUSG00000072878

Gene Name

nucleoporin 50 like

Synonyms

1700123L14Rik

MMRRC Submission

067489-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R8052 (G1)

Quality Score

152.468

Status

Not validated

Chromosome

Chromosomal Location

96141484-96143186 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

TCC to TCCGCC at 96142078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113152 (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

SMART Domains

Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,843,555 (GRCm39)	T297A	probably benign	Het
Acadl	G	T	1: 66,892,337 (GRCm39)	T162K	probably benign	Het
Aldoart2	A	T	12: 55,612,536 (GRCm39)	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478 (GRCm39)	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,969,036 (GRCm39)	V891E	probably benign	Het
Aopep	G	A	13: 63,216,065 (GRCm39)	V446I	probably damaging	Het
Atp8b5	C	T	4: 43,356,982 (GRCm39)	R577*	probably null	Het
Capn3	G	T	2: 120,316,867 (GRCm39)	E285D	probably benign	Het
Cd79b	G	T	11: 106,204,526 (GRCm39)	P87T	probably damaging	Het
Celsr2	T	G	3: 108,319,971 (GRCm39)	D947A	probably damaging	Het
Csmd3	A	C	15: 47,569,783 (GRCm39)	S1213R		Het
Cyp2j5	T	C	4: 96,552,241 (GRCm39)	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787 (GRCm39)	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019 (GRCm39)	K49R	probably benign	Het
Dnah10	A	C	5: 124,905,575 (GRCm39)	E4130A	probably benign	Het
Dst	A	G	1: 34,323,444 (GRCm39)	D4648G	probably damaging	Het
Ecd	A	G	14: 20,380,020 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,970,864 (GRCm39)	Y917*	probably null	Het
Evpl	T	C	11: 116,113,989 (GRCm39)	K1234E	probably benign	Het
F11r	T	A	1: 171,289,191 (GRCm39)	Y218N	possibly damaging	Het
Fam43a	C	G	16: 30,420,622 (GRCm39)	T402S	probably benign	Het
Frem2	T	C	3: 53,457,064 (GRCm39)	N2096S	probably benign	Het
Gpd2	T	A	2: 57,196,962 (GRCm39)	Y172*	probably null	Het
Hscb	A	G	5: 110,983,844 (GRCm39)	V90A	probably benign	Het
Iqgap2	T	C	13: 95,794,387 (GRCm39)	D1195G	probably damaging	Het
Map2k2	T	C	10: 80,950,900 (GRCm39)	I115T	probably damaging	Het
Mast2	C	T	4: 116,170,172 (GRCm39)	R707H	probably damaging	Het
Mindy4	A	G	6: 55,277,977 (GRCm39)	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,351,050 (GRCm39)	Y77N	probably damaging	Het
Muc16	G	A	9: 18,570,347 (GRCm39)	T724I	unknown	Het
Nat3	A	T	8: 68,000,478 (GRCm39)	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,554,990 (GRCm39)	S208P	probably damaging	Het
Notch3	A	T	17: 32,365,545 (GRCm39)	C1056S	probably damaging	Het
Or13j1	A	T	4: 43,705,884 (GRCm39)	V228E	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Or5al5	A	T	2: 85,961,721 (GRCm39)	Y95*	probably null	Het
Or8g17	G	T	9: 38,930,783 (GRCm39)	T18K	probably damaging	Het
Osbpl3	A	C	6: 50,322,995 (GRCm39)	L288R	probably damaging	Het
Oscp1	A	C	4: 125,982,116 (GRCm39)	D352A	possibly damaging	Het
Pcdh9	G	A	14: 94,123,222 (GRCm39)	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,896,555 (GRCm39)	S542P	probably benign	Het
Pi4ka	T	C	16: 17,174,030 (GRCm39)	T490A		Het
Pkd1l1	A	T	11: 8,897,315 (GRCm39)	D531E		Het
Potefam3d	A	T	8: 69,975,404 (GRCm39)	Y21N	possibly damaging	Het
Prr3	G	T	17: 36,290,053 (GRCm39)	D26E	possibly damaging	Het
Psmd8	T	C	7: 28,880,001 (GRCm39)	K24E	probably benign	Het
Rasgrp4	G	A	7: 28,849,362 (GRCm39)	C583Y	probably damaging	Het
Rest	A	G	5: 77,416,171 (GRCm39)	I128M	probably benign	Het
Rftn1	A	T	17: 50,393,607 (GRCm39)	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851 (GRCm39)	F757S	probably benign	Het
Ryr1	A	G	7: 28,782,810 (GRCm39)	S1942P	probably benign	Het
Sdk2	C	T	11: 113,745,177 (GRCm39)	R706Q	probably damaging	Het
Sergef	G	T	7: 46,264,062 (GRCm39)	T275K	probably damaging	Het
Serpina10	T	C	12: 103,594,569 (GRCm39)	T217A	probably damaging	Het
Shd	G	C	17: 56,283,235 (GRCm39)	S288T	probably damaging	Het
Siglec15	C	A	18: 78,091,803 (GRCm39)	A133S	possibly damaging	Het
Stat4	C	T	1: 52,118,932 (GRCm39)	P325L	probably damaging	Het
Syt8	G	A	7: 141,993,881 (GRCm39)	G344D	probably damaging	Het
Tes	A	G	6: 17,097,291 (GRCm39)	E133G	probably benign	Het
Tmprss2	T	C	16: 97,369,616 (GRCm39)	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,115,502 (GRCm39)	L365Q	probably damaging	Het
Tns1	T	A	1: 73,992,596 (GRCm39)	D67V	probably damaging	Het
Tns2	T	C	15: 102,021,280 (GRCm39)	S982P	probably damaging	Het
Tpcn2	A	T	7: 144,814,683 (GRCm39)	F473I	probably benign	Het
Tsg101	A	T	7: 46,542,257 (GRCm39)	I232N	probably damaging	Het
Ttc3	T	C	16: 94,268,848 (GRCm39)	S1977P	probably benign	Het
Ttll11	T	A	2: 35,869,527 (GRCm39)	E37V	unknown	Het
Ttn	A	T	2: 76,649,160 (GRCm39)	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,212,923 (GRCm39)	S495A	probably benign	Het
Zfp974	A	G	7: 27,610,697 (GRCm39)	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AACATGGCATATCGGGTGGG -3'
(R):5'- AACACTGAAACCCCGGCTTG -3'

Sequencing Primer
(F):5'- CATATCGGGTGGGATCAGAATATTC -3'
(R):5'- TGGGGTTCCCTCAACTCTGG -3'

Posted On

2020-01-23