Mutagenetix > Incidental Mutation

Incidental Mutation 'R7194:Nup50l'

559782

Institutional Source

Beutler Lab

Gene Symbol

Nup50l

Ensembl Gene

ENSMUSG00000072878

Gene Name

nucleoporin 50 like

Synonyms

1700123L14Rik

MMRRC Submission

045335-MU

Accession Numbers

Essential gene?

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

Stock #

R7194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96141484-96143186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 96141756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 429 (E429D)

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: E429D

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: E429D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Abi3bp	C	T	16: 56,382,734 (GRCm39)	R115C	probably damaging	Het
Adam18	A	G	8: 25,141,868 (GRCm39)	S234P	possibly damaging	Het
Adam20	A	G	8: 41,249,449 (GRCm39)	R520G	probably benign	Het
Angel2	C	G	1: 190,677,194 (GRCm39)	T514R	probably damaging	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Ankrd7	A	T	6: 18,879,342 (GRCm39)	Y262F	probably benign	Het
Ano8	C	A	8: 71,935,007 (GRCm39)	L398F	possibly damaging	Het
App	C	T	16: 84,822,319 (GRCm39)	V356I	probably benign	Het
Atp1a2	C	A	1: 172,108,194 (GRCm39)	E636*	probably null	Het
Cckbr	G	A	7: 105,084,552 (GRCm39)	E429K	possibly damaging	Het
Cfi	T	G	3: 129,648,708 (GRCm39)	S197R	probably damaging	Het
Chn2	A	G	6: 54,263,162 (GRCm39)		probably null	Het
Col3a1	C	A	1: 45,370,860 (GRCm39)	A405D	unknown	Het
Colec12	A	T	18: 9,848,248 (GRCm39)	N142I	probably benign	Het
Copa	T	C	1: 171,947,511 (GRCm39)	L1109P	probably damaging	Het
Cpeb3	T	A	19: 37,152,152 (GRCm39)	M75L	probably benign	Het
Cyp2d11	T	C	15: 82,275,969 (GRCm39)	Y204C	probably benign	Het
Defa17	A	G	8: 22,146,613 (GRCm39)	T80A	probably benign	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dppa5a	C	T	9: 78,275,002 (GRCm39)		probably null	Het
Fat4	G	T	3: 38,943,033 (GRCm39)	S642I	probably damaging	Het
Fat4	T	A	3: 39,038,044 (GRCm39)	C3899S	probably damaging	Het
Fn1	A	G	1: 71,641,482 (GRCm39)	V1869A	probably damaging	Het
Gm10308	A	T	17: 91,396,389 (GRCm39)	I104L	unknown	Het
Gpr139	C	T	7: 118,743,896 (GRCm39)	A230T	possibly damaging	Het
Grm8	T	C	6: 27,618,486 (GRCm39)	N452S	probably benign	Het
Hmox1	T	C	8: 75,823,551 (GRCm39)	V73A	probably benign	Het
Hspa4	A	G	11: 53,156,765 (GRCm39)	F641L	probably damaging	Het
Ifi207	T	G	1: 173,557,490 (GRCm39)	H416P	possibly damaging	Het
Igkv10-96	G	T	6: 68,609,028 (GRCm39)	T89K	possibly damaging	Het
Kmt2d	A	C	15: 98,741,714 (GRCm39)	V4482G	unknown	Het
Krt28	T	A	11: 99,265,230 (GRCm39)	K146*	probably null	Het
Krt82	T	C	15: 101,451,191 (GRCm39)	N406S	probably damaging	Het
Marveld3	A	T	8: 110,686,477 (GRCm39)		probably null	Het
Mllt6	C	T	11: 97,564,394 (GRCm39)	S370L	probably benign	Het
Muc16	A	G	9: 18,585,750 (GRCm39)	L26S	unknown	Het
Mup12	T	A	4: 60,696,734 (GRCm39)	E48V	probably benign	Het
Myh1	G	A	11: 67,102,183 (GRCm39)	V825I	probably benign	Het
Nipal3	G	A	4: 135,201,732 (GRCm39)	T152I	probably benign	Het
Nrg3	A	T	14: 39,194,435 (GRCm39)	M108K	probably benign	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or10d4c	G	A	9: 39,558,387 (GRCm39)	V122I	probably benign	Het
Pira13	A	G	7: 3,827,792 (GRCm39)	W122R		Het
Pkhd1l1	T	C	15: 44,392,512 (GRCm39)	C1616R	probably damaging	Het
Ppa2	T	A	3: 133,053,953 (GRCm39)		probably null	Het
Ppfibp2	T	A	7: 107,322,187 (GRCm39)		probably null	Het
Ppp4c	T	C	7: 126,385,653 (GRCm39)	N229D	probably damaging	Het
Ptpn9	T	C	9: 56,929,570 (GRCm39)	F96L	probably damaging	Het
Pygl	A	G	12: 70,241,094 (GRCm39)	V742A	probably benign	Het
Ranbp2	A	G	10: 58,312,591 (GRCm39)	T1104A	probably benign	Het
Rasal1	G	A	5: 120,813,557 (GRCm39)	A644T	probably benign	Het
Rcor3	T	A	1: 191,810,261 (GRCm39)	T139S	possibly damaging	Het
Rfx5	T	A	3: 94,862,454 (GRCm39)	I37N	probably damaging	Het
Rnf112	C	T	11: 61,341,683 (GRCm39)	G374R	probably damaging	Het
Rrp12	T	C	19: 41,859,979 (GRCm39)	I1034V	probably benign	Het
Sacs	T	A	14: 61,447,538 (GRCm39)	Y3195N	possibly damaging	Het
Scn4a	A	G	11: 106,215,062 (GRCm39)	I1243T	probably benign	Het
Sirt7	A	T	11: 120,509,799 (GRCm39)	C362S	probably benign	Het
Slc17a6	T	A	7: 51,276,640 (GRCm39)	S130T	probably damaging	Het
Snrnp48	A	C	13: 38,393,875 (GRCm39)	Y60S	probably damaging	Het
Syne1	T	C	10: 5,060,859 (GRCm39)	E7260G	probably damaging	Het
Trbv15	C	T	6: 41,118,529 (GRCm39)	T95I	probably benign	Het
Trip12	A	T	1: 84,771,943 (GRCm39)	N68K	probably benign	Het
Ugcg	A	G	4: 59,213,210 (GRCm39)	Y132C	probably damaging	Het
Usp9y	A	T	Y: 1,304,672 (GRCm39)	C2391S	probably damaging	Het
Vmn1r103	C	A	7: 20,244,438 (GRCm39)	V8L	probably benign	Het
Vmn2r15	T	A	5: 109,440,649 (GRCm39)	N403I	probably damaging	Het
Zbtb11	T	C	16: 55,827,551 (GRCm39)	S1006P	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
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
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'- GGCTCTTAAAAGGGAGGACC -3'
(R):5'- AAGTTAGGCAGCATACTCCTG -3'

Sequencing Primer
(F):5'- GGAGGACCCTTTCTCCACAC -3'
(R):5'- GGCAGCATACTCCTGAATATTCTG -3'

Posted On

2019-06-26