Mutagenetix > Incidental Mutation

Incidental Mutation 'R7081:Nup50l'

549525

Institutional Source

Beutler Lab

Gene Symbol

Nup50l

Ensembl Gene

ENSMUSG00000072878

Gene Name

nucleoporin 50 like

Synonyms

1700123L14Rik

MMRRC Submission

045175-MU

Accession Numbers

Essential gene?

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

Stock #

R7081 (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 G at 96142798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 82 (V82A)

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: V82A

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: V82A

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	A	11: 84,361,951 (GRCm39)	H337L	possibly damaging	Het
Abcb4	T	A	5: 8,984,263 (GRCm39)	N664K	probably benign	Het
Adh7	A	G	3: 137,934,606 (GRCm39)	D343G	probably benign	Het
Als2cl	G	A	9: 110,723,650 (GRCm39)	R682Q	possibly damaging	Het
Angptl6	A	C	9: 20,786,644 (GRCm39)	I334R	probably damaging	Het
Ankrd45	A	G	1: 160,978,863 (GRCm39)	N101D	probably benign	Het
Arhgef10	C	T	8: 15,047,547 (GRCm39)	Q1137*	probably null	Het
Asap3	T	A	4: 135,968,881 (GRCm39)		probably null	Het
Bmp2k	T	C	5: 97,212,820 (GRCm39)	S568P	unknown	Het
C4b	A	C	17: 34,954,417 (GRCm39)	F917L	probably benign	Het
Cacna1e	A	T	1: 154,576,129 (GRCm39)	V168E	possibly damaging	Het
Ccdc60	T	A	5: 116,264,146 (GRCm39)	I543F	probably benign	Het
Cd36	T	C	5: 18,019,702 (GRCm39)	D133G	probably damaging	Het
Chd4	T	C	6: 125,106,948 (GRCm39)	V1911A	unknown	Het
Cplx4	A	T	18: 66,100,538 (GRCm39)		probably null	Het
Cyp1a2	A	T	9: 57,586,272 (GRCm39)	D415E	possibly damaging	Het
Cyp3a57	T	C	5: 145,318,183 (GRCm39)	I388T	probably damaging	Het
Dnajc5b	T	C	3: 19,601,025 (GRCm39)		probably null	Het
Dock4	A	T	12: 40,671,285 (GRCm39)	I35F	probably damaging	Het
Efna4	A	T	3: 89,241,601 (GRCm39)	L206Q	unknown	Het
Eif2a	T	C	3: 58,449,139 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,063,801 (GRCm39)	F612L	probably damaging	Het
Fbxw21	A	G	9: 108,990,990 (GRCm39)	L23P	probably damaging	Het
Fcamr	A	T	1: 130,740,949 (GRCm39)	E456V	probably damaging	Het
Fkbp8	G	A	8: 70,983,644 (GRCm39)	R106H	probably benign	Het
Galr2	T	A	11: 116,173,874 (GRCm39)	L168Q	probably damaging	Het
Gm11111	C	T	5: 98,701,399 (GRCm39)	S22L	unknown	Het
Gnpat	T	C	8: 125,590,008 (GRCm39)	F11S	possibly damaging	Het
H2-T24	A	T	17: 36,328,344 (GRCm39)	D46E	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Ifna12	T	C	4: 88,521,440 (GRCm39)	R36G	probably damaging	Het
Kcnma1	G	A	14: 23,350,086 (GRCm39)	P1151L	probably damaging	Het
Kif5c	T	A	2: 49,631,373 (GRCm39)	D683E	probably benign	Het
Krit1	T	C	5: 3,873,651 (GRCm39)	Y477H	possibly damaging	Het
Lipm	T	A	19: 34,098,723 (GRCm39)	V399D	possibly damaging	Het
Lrguk	A	T	6: 34,079,074 (GRCm39)	T770S	probably benign	Het
Lrrc37a	T	C	11: 103,348,781 (GRCm39)	N2638S	unknown	Het
Lrrc40	T	C	3: 157,742,442 (GRCm39)	V27A	probably damaging	Het
Map4k1	T	C	7: 28,690,574 (GRCm39)	V355A	probably benign	Het
Mylk3	T	C	8: 86,091,422 (GRCm39)	I128V	probably benign	Het
Myo1c	A	G	11: 75,551,789 (GRCm39)	D289G	probably benign	Het
Mypn	A	G	10: 62,970,737 (GRCm39)	F889S	probably damaging	Het
Ndufv3	C	T	17: 31,746,407 (GRCm39)	P99L	possibly damaging	Het
Nlrp10	A	C	7: 108,523,855 (GRCm39)	S542A	probably benign	Het
Noc2l	T	A	4: 156,331,477 (GRCm39)	D718E	possibly damaging	Het
Ntng1	T	A	3: 109,759,105 (GRCm39)	I355F	probably benign	Het
Nup210	A	G	6: 91,037,647 (GRCm39)	V742A	possibly damaging	Het
Olig2	T	A	16: 91,023,307 (GRCm39)	L7Q	probably damaging	Het
Or51f23b	A	T	7: 102,402,395 (GRCm39)	I247N	probably benign	Het
Or8u10	A	T	2: 85,915,939 (GRCm39)	F61I	probably damaging	Het
Parpbp	A	T	10: 87,929,517 (GRCm39)	W444R	probably damaging	Het
Plekhg3	A	G	12: 76,625,019 (GRCm39)	E1287G	probably benign	Het
Pramel16	T	C	4: 143,675,848 (GRCm39)	D326G	probably damaging	Het
Pramel56	T	A	5: 95,022,641 (GRCm39)	N107K	possibly damaging	Het
Prrc2b	A	T	2: 32,103,075 (GRCm39)	Q851L	probably benign	Het
Psg21	C	T	7: 18,388,774 (GRCm39)	W106*	probably null	Het
Rab18	T	G	18: 6,778,529 (GRCm39)	D53E	probably benign	Het
Rbm19	T	A	5: 120,261,216 (GRCm39)		probably null	Het
Rhobtb1	T	C	10: 69,102,127 (GRCm39)	V136A	probably benign	Het
Rsph4a	G	A	10: 33,785,189 (GRCm39)	V367I	probably damaging	Het
Sec24b	T	C	3: 129,781,391 (GRCm39)	N1161S	probably benign	Het
Sgcd	C	A	11: 47,016,428 (GRCm39)	G145*	probably null	Het
Sin3a	A	G	9: 57,001,755 (GRCm39)	K134R	probably null	Het
Slc9b2	A	G	3: 135,027,698 (GRCm39)	E108G	probably benign	Het
Stk24	A	T	14: 121,531,706 (GRCm39)	S317T	probably benign	Het
Stra8	T	A	6: 34,911,302 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,928,376 (GRCm39)	V71A	possibly damaging	Het
Tmem87a	T	C	2: 120,211,264 (GRCm39)	D227G	possibly damaging	Het
Vnn1	T	A	10: 23,770,903 (GRCm39)	L44M	possibly damaging	Het
Wdr20	G	A	12: 110,769,884 (GRCm39)	V160I	possibly damaging	Het
Zfand4	T	A	6: 116,292,581 (GRCm39)	N667K	possibly damaging	Het
Zfp1005	A	G	2: 150,110,189 (GRCm39)	H293R	possibly damaging	Het
Zfp609	A	G	9: 65,609,723 (GRCm39)	V1080A	possibly damaging	Het
Zhx1	C	T	15: 57,917,734 (GRCm39)	V171I	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
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

Predicted Primers

PCR Primer
(F):5'- TATCCAGTCTCGGACAGAGC -3'
(R):5'- AACATTCTCGCTGGCCAGTG -3'

Sequencing Primer
(F):5'- CCAGTCAACTGCCTATGGTAG -3'
(R):5'- GGCCAGTGAGGACGTCC -3'

Posted On

2019-05-15