Mutagenetix > Incidental Mutation

Incidental Mutation 'R6141:Snupn'

488588

Institutional Source

Beutler Lab

Gene Symbol

Snupn

Ensembl Gene

ENSMUSG00000055334

Gene Name

snurportin 1

Synonyms

0610031A09Rik, Rnut1

MMRRC Submission

044288-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R6141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56858162-56890490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56890108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 310 (Q310K)

Ref Sequence

ENSEMBL: ENSMUSP00000067200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068856]

AlphaFold

Q80W37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068856
AA Change: Q310K

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067200
Gene: ENSMUSG00000055334
AA Change: Q310K

Domain	Start	End	E-Value	Type
Pfam:Snurportin1	25	64	2.4e-21	PFAM
low complexity region	73	88	N/A	INTRINSIC

Meta Mutation Damage Score

0.1232

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	A	T	7: 42,097,483 (GRCm39)	C4S	probably damaging	Het
Abhd5	A	T	9: 122,206,998 (GRCm39)	T95S	probably benign	Het
Ambra1	A	T	2: 91,706,099 (GRCm39)	N795Y	probably damaging	Het
Brca2	A	G	5: 150,464,102 (GRCm39)	N1289D	possibly damaging	Het
Cavin2	T	C	1: 51,340,097 (GRCm39)	L258P	probably damaging	Het
Ccdc110	A	G	8: 46,394,807 (GRCm39)	T233A	possibly damaging	Het
Ccdc14	T	A	16: 34,526,932 (GRCm39)	I279N	probably damaging	Het
Cntn5	A	T	9: 10,144,162 (GRCm39)	L169Q	probably benign	Het
Dbf4	T	C	5: 8,458,545 (GRCm39)	S157G	possibly damaging	Het
Defb22	A	T	2: 152,327,722 (GRCm39)	N154K	unknown	Het
Eepd1	T	A	9: 25,394,280 (GRCm39)	D181E	probably benign	Het
Etfa	T	C	9: 55,372,103 (GRCm39)	H286R	probably damaging	Het
Gm44419	T	A	6: 65,127,940 (GRCm39)		noncoding transcript	Het
Gpatch4	C	T	3: 87,962,047 (GRCm39)	R155*	probably null	Het
Grik1	T	G	16: 87,693,760 (GRCm39)	R862S	probably benign	Het
Hectd1	A	C	12: 51,792,875 (GRCm39)		probably null	Het
Ift122	T	C	6: 115,892,972 (GRCm39)	W919R	probably damaging	Het
Iqgap2	A	T	13: 95,858,194 (GRCm39)		probably null	Het
Kcnq4	A	T	4: 120,573,066 (GRCm39)	I245N	probably damaging	Het
Map3k3	G	T	11: 105,987,874 (GRCm39)	R21L	probably benign	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Msr1	A	T	8: 40,084,360 (GRCm39)	V65E	probably damaging	Het
Myom2	A	T	8: 15,113,903 (GRCm39)	D17V	probably damaging	Het
Naaladl1	T	A	19: 6,159,785 (GRCm39)		probably null	Het
Naip6	T	C	13: 100,444,741 (GRCm39)	Y239C	possibly damaging	Het
Nckap1	C	A	2: 80,360,551 (GRCm39)	D533Y	probably damaging	Het
Ndufs2	T	C	1: 171,064,185 (GRCm39)	E375G	probably damaging	Het
Nsd1	T	C	13: 55,439,097 (GRCm39)	V1605A	probably damaging	Het
Or4k42	A	G	2: 111,320,464 (GRCm39)	I13T	probably benign	Het
Or52ae9	C	A	7: 103,389,994 (GRCm39)	R151L	probably damaging	Het
Or5ac17	T	A	16: 59,036,916 (GRCm39)	H20L	probably benign	Het
Or5b114-ps1	A	T	19: 13,352,647 (GRCm39)	Y107F	probably benign	Het
Or7e176	T	A	9: 20,171,754 (GRCm39)	M206K	probably benign	Het
Pcp2	G	A	8: 3,673,543 (GRCm39)		probably null	Het
Pdgfra	A	G	5: 75,334,057 (GRCm39)	S377G	probably damaging	Het
Reep5	A	T	18: 34,505,511 (GRCm39)	Y53*	probably null	Het
Ric1	T	C	19: 29,572,842 (GRCm39)	S761P	probably damaging	Het
Satb1	T	C	17: 52,082,404 (GRCm39)	T417A	possibly damaging	Het
Slc1a7	T	A	4: 107,859,379 (GRCm39)	M156K	possibly damaging	Het
Slc4a10	A	G	2: 62,041,789 (GRCm39)	E123G	probably damaging	Het
Slc66a1	A	G	4: 139,027,556 (GRCm39)	V262A	probably benign	Het
Stard13	A	T	5: 150,965,707 (GRCm39)	V916E	probably damaging	Het
Tlr1	T	C	5: 65,082,556 (GRCm39)	R674G	possibly damaging	Het
Tnfsf11	A	G	14: 78,545,299 (GRCm39)	Y11H	probably damaging	Het
Tnr	T	A	1: 159,714,692 (GRCm39)	V857E	probably benign	Het
Tubgcp5	A	G	7: 55,456,526 (GRCm39)	I373V	probably benign	Het
Ush2a	A	T	1: 188,090,160 (GRCm39)	R414S	possibly damaging	Het
Vmn2r100	T	C	17: 19,742,576 (GRCm39)	S317P	probably benign	Het
Wdr49	A	T	3: 75,230,989 (GRCm39)	F558I	probably benign	Het
Zfyve16	A	G	13: 92,648,105 (GRCm39)	I983T	probably benign	Het

Other mutations in Snupn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02820:Snupn	APN	9	56,870,332 (GRCm39)	missense	probably benign
IGL02931:Snupn	APN	9	56,864,364 (GRCm39)	missense	probably benign	0.02
R1160:Snupn	UTSW	9	56,864,389 (GRCm39)	missense	probably benign	0.28
R4569:Snupn	UTSW	9	56,885,346 (GRCm39)	missense	probably benign	0.22
R4570:Snupn	UTSW	9	56,885,346 (GRCm39)	missense	probably benign	0.22
R5318:Snupn	UTSW	9	56,864,345 (GRCm39)	missense	probably damaging	1.00
R6139:Snupn	UTSW	9	56,890,108 (GRCm39)	missense	possibly damaging	0.82
R6140:Snupn	UTSW	9	56,890,108 (GRCm39)	missense	possibly damaging	0.82
R6208:Snupn	UTSW	9	56,890,247 (GRCm39)	missense	probably damaging	0.99
R6625:Snupn	UTSW	9	56,890,054 (GRCm39)	missense	probably benign	0.01
R7278:Snupn	UTSW	9	56,890,028 (GRCm39)	missense	probably damaging	1.00
R8251:Snupn	UTSW	9	56,888,137 (GRCm39)	missense	probably damaging	1.00
R9290:Snupn	UTSW	9	56,882,547 (GRCm39)	missense	possibly damaging	0.94
R9458:Snupn	UTSW	9	56,890,039 (GRCm39)	missense	possibly damaging	0.72
R9729:Snupn	UTSW	9	56,877,915 (GRCm39)	missense	possibly damaging	0.57
X0025:Snupn	UTSW	9	56,877,632 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCTACAGGTAGATGGGCTGCTC -3'
(R):5'- CCTGGGTTTGGAAAGAATGCTC -3'

Sequencing Primer
(F):5'- AGATGGGCTGCTCTTCTACCATAAAC -3'
(R):5'- GGTCACTAATGGCTATCATCACTG -3'

Posted On

2017-10-10