Mutagenetix > Incidental Mutation

Incidental Mutation 'R9600:Nup50l'

723664

Institutional Source

Beutler Lab

Gene Symbol

Nup50l

Ensembl Gene

ENSMUSG00000072878

Gene Name

nucleoporin 50 like

Synonyms

1700123L14Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9600 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96141484-96143186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96142156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 296 (L296Q)

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

possibly damaging
Transcript: ENSMUST00000090061
AA Change: L296Q

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: L296Q

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: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	G	11: 80,261,197 (GRCm39)	V210A	probably damaging	Het
Abcc9	G	A	6: 142,536,102 (GRCm39)	A1544V	possibly damaging	Het
Akap6	A	G	12: 52,933,341 (GRCm39)	T278A	probably benign	Het
Arfgef1	T	A	1: 10,233,977 (GRCm39)	I1106F	probably benign	Het
Armc7	T	C	11: 115,367,038 (GRCm39)	L61S	probably damaging	Het
Atp1a3	G	A	7: 24,700,027 (GRCm39)	T111M	probably benign	Het
Bltp1	A	T	3: 37,095,565 (GRCm39)	K1103*	probably null	Het
Cacna2d4	T	A	6: 119,322,023 (GRCm39)	S962R	probably benign	Het
Camsap2	T	C	1: 136,204,936 (GRCm39)	T526A		Het
Casq2	A	T	3: 102,052,622 (GRCm39)	D378V	unknown	Het
Chst8	C	T	7: 34,374,646 (GRCm39)	D398N	possibly damaging	Het
Cmya5	C	T	13: 93,226,604 (GRCm39)	G2828D	probably damaging	Het
Cntnap2	T	A	6: 45,969,009 (GRCm39)	N250K	probably damaging	Het
Cpne5	T	C	17: 29,380,520 (GRCm39)	N401D	probably damaging	Het
Cse1l	A	G	2: 166,757,119 (GRCm39)	N7S	probably damaging	Het
Cyp4f39	G	A	17: 32,705,920 (GRCm39)	G337D	probably damaging	Het
Dera	C	T	6: 137,814,135 (GRCm39)	R308C	probably benign	Het
Drd5	T	A	5: 38,478,174 (GRCm39)	I389N	possibly damaging	Het
F830016B08Rik	A	G	18: 60,433,237 (GRCm39)	T107A	probably damaging	Het
Fbxw22	C	A	9: 109,212,986 (GRCm39)	L320F	probably damaging	Het
Fndc3b	G	T	3: 27,552,941 (GRCm39)	T352K	probably damaging	Het
Gm36864	T	A	7: 43,886,275 (GRCm39)	I169K	unknown	Het
Hdac4	A	T	1: 91,889,277 (GRCm39)	D749E	probably damaging	Het
Herc1	C	T	9: 66,304,594 (GRCm39)	A805V	possibly damaging	Het
Hrh1	A	G	6: 114,457,453 (GRCm39)	K245E	probably benign	Het
Khdc1a	A	G	1: 21,421,204 (GRCm39)	T130A	probably benign	Het
Lrp5	C	G	19: 3,641,712 (GRCm39)	A1417P	probably benign	Het
Macf1	T	C	4: 123,365,002 (GRCm39)	Q3253R	possibly damaging	Het
Mdn1	T	A	4: 32,684,723 (GRCm39)	L811*	probably null	Het
Mettl8	T	C	2: 70,812,383 (GRCm39)	D84G	possibly damaging	Het
Miga1	T	G	3: 151,993,186 (GRCm39)	T412P	probably benign	Het
Mtor	G	T	4: 148,632,092 (GRCm39)	R2322L	possibly damaging	Het
Muc16	T	C	9: 18,567,147 (GRCm39)	N1791D	unknown	Het
Myo9b	C	G	8: 71,743,075 (GRCm39)	S45R	possibly damaging	Het
Olfm4	T	C	14: 80,243,747 (GRCm39)	F105S	probably damaging	Het
Or5af2	A	T	11: 58,708,370 (GRCm39)	I179F	possibly damaging	Het
Osbpl1a	T	C	18: 13,015,277 (GRCm39)	I384V	probably benign	Het
Pcnx1	T	C	12: 82,030,435 (GRCm39)	L1131P		Het
Pex6	T	A	17: 47,035,322 (GRCm39)	V827E	probably damaging	Het
Plek	A	C	11: 16,940,119 (GRCm39)	S197A	probably benign	Het
Pmpca	T	C	2: 26,282,598 (GRCm39)	Y269H	probably benign	Het
Pop1	T	C	15: 34,512,881 (GRCm39)	I493T	probably benign	Het
Rap1gap2	T	C	11: 74,283,954 (GRCm39)	N615D	probably benign	Het
Rtp3	T	C	9: 110,815,198 (GRCm39)	Y389C	unknown	Het
Rusf1	T	A	7: 127,875,676 (GRCm39)	D253V	possibly damaging	Het
Sardh	T	C	2: 27,120,513 (GRCm39)	Q423R	probably benign	Het
Slc11a1	T	C	1: 74,422,688 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,896,239 (GRCm39)	D572G	probably damaging	Het
Slco1a8	T	G	6: 141,949,234 (GRCm39)		probably null	Het
Slfn14	A	G	11: 83,170,048 (GRCm39)	V532A	probably benign	Het
Spmip10	T	C	18: 56,725,450 (GRCm39)	W37R	probably benign	Het
Stxbp1	T	C	2: 32,701,120 (GRCm39)	Y264C	possibly damaging	Het
Syce1l	T	C	8: 114,381,750 (GRCm39)	I230T	unknown	Het
Taf5l	T	C	8: 124,730,173 (GRCm39)	Y172C		Het
Trpc4	A	T	3: 54,102,248 (GRCm39)	K49*	probably null	Het
Ttc13	A	G	8: 125,415,284 (GRCm39)	V285A	probably benign	Het
Ttc17	A	T	2: 94,204,890 (GRCm39)	L344Q	probably damaging	Het
Unc79	A	G	12: 103,135,972 (GRCm39)	H2469R	probably benign	Het
Xkr7	A	G	2: 152,896,393 (GRCm39)	I416V	probably benign	Het
Zeb2	C	A	2: 44,987,180 (GRCm39)	D35Y	unknown	Het
Zfp28	A	G	7: 6,397,917 (GRCm39)	H784R	probably benign	Het
Zfp644	A	C	5: 106,783,909 (GRCm39)	S848R	probably benign	Het
Zfp809	G	A	9: 22,150,384 (GRCm39)	E294K	possibly damaging	Het
Zfp820	A	G	17: 22,038,861 (GRCm39)	Y156H	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
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

Predicted Primers

PCR Primer
(F):5'- TTTAAATACAGCGTGCCAACAC -3'
(R):5'- TGGTCACCTCTGAAAAGACCG -3'

Sequencing Primer
(F):5'- AATACAGCGTGCCAACACCTTTTTC -3'
(R):5'- CACCTCTGAAAAGACCGAGTTTATG -3'

Posted On

2022-09-12