Mutagenetix > Incidental Mutation

Incidental Mutation 'R9290:Snupn'

704220

Institutional Source

Beutler Lab

Gene Symbol

Snupn

Ensembl Gene

ENSMUSG00000055334

Gene Name

snurportin 1

Synonyms

0610031A09Rik, Rnut1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R9290 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56858162-56890490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56882547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 187 (V187F)

Ref Sequence

ENSEMBL: ENSMUSP00000067200 (fasta)

Gene Model

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

AlphaFold

Q80W37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068856
AA Change: V187F

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067200
Gene: ENSMUSG00000055334
AA Change: V187F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	G	1: 156,457,538 (GRCm39)	K268R	probably damaging	Het
Acvr1	T	C	2: 58,338,330 (GRCm39)	D464G	probably damaging	Het
Adra1d	G	T	2: 131,403,898 (GRCm39)	T64K	probably benign	Het
Cct3	T	C	3: 88,216,536 (GRCm39)	V164A	probably benign	Het
Cdhr2	T	C	13: 54,882,009 (GRCm39)	V1153A	possibly damaging	Het
Cdkn2c	A	C	4: 109,518,512 (GRCm39)	Y147*	probably null	Het
Ces1g	A	T	8: 94,029,545 (GRCm39)	H562Q	probably benign	Het
Cfap221	A	G	1: 119,853,381 (GRCm39)	L771P	probably benign	Het
Chsy3	A	G	18: 59,542,928 (GRCm39)	M689V	probably benign	Het
Ciita	T	A	16: 10,326,513 (GRCm39)	S235T	probably damaging	Het
Cracdl	T	A	1: 37,663,634 (GRCm39)	R755W	probably damaging	Het
Dcdc2a	A	G	13: 25,386,313 (GRCm39)	K396E	probably benign	Het
Dgki	C	T	6: 37,276,780 (GRCm39)	C35Y	unknown	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnai7	T	C	6: 145,148,688 (GRCm39)	E57G	unknown	Het
Eif3a	A	G	19: 60,765,221 (GRCm39)	V322A	probably damaging	Het
Foxp2	A	T	6: 15,197,120 (GRCm39)	Q54L	possibly damaging	Het
Garin2	T	A	12: 78,759,028 (GRCm39)	V116E	possibly damaging	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gtf3c3	T	G	1: 54,477,997 (GRCm39)	E26A	possibly damaging	Het
Hps5	T	C	7: 46,424,331 (GRCm39)	E514G	probably damaging	Het
Ide	A	T	19: 37,302,647 (GRCm39)	D154E		Het
Insm1	T	C	2: 146,065,273 (GRCm39)	V363A	probably benign	Het
Iqgap2	A	T	13: 95,886,523 (GRCm39)	M120K	probably damaging	Het
Kcnh5	T	A	12: 75,023,488 (GRCm39)	I527F	probably benign	Het
Lrtm2	A	G	6: 119,297,792 (GRCm39)	L83P	probably damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Mycbp2	A	T	14: 103,425,960 (GRCm39)	H2421Q	probably damaging	Het
Myh15	A	G	16: 48,997,375 (GRCm39)	E1731G	probably damaging	Het
Myt1	A	T	2: 181,437,667 (GRCm39)	H168L	probably benign	Het
Nxph4	A	T	10: 127,362,546 (GRCm39)	V115E	probably damaging	Het
Ofcc1	A	T	13: 40,433,802 (GRCm39)	I101N	possibly damaging	Het
Oog2	T	C	4: 143,923,015 (GRCm39)	F427L	probably benign	Het
Or4c115	A	G	2: 88,928,076 (GRCm39)	L65P	probably damaging	Het
Or4f14b	A	T	2: 111,774,967 (GRCm39)	I278N	possibly damaging	Het
Or5w11	A	G	2: 87,459,209 (GRCm39)	N18S	probably benign	Het
Or8b48	T	C	9: 38,493,334 (GRCm39)	S254P	probably damaging	Het
Or8g27	A	G	9: 39,129,531 (GRCm39)	R293G	probably damaging	Het
Otop1	T	G	5: 38,455,302 (GRCm39)	I232S	probably benign	Het
Pak6	G	A	2: 118,523,883 (GRCm39)	R346Q	probably damaging	Het
Pbk	A	T	14: 66,054,713 (GRCm39)	M282L	probably benign	Het
Pmpcb	T	C	5: 21,944,009 (GRCm39)		probably null	Het
Pou5f2	T	A	13: 78,173,585 (GRCm39)	W176R	probably damaging	Het
Prkra	G	T	2: 76,478,147 (GRCm39)	S18R	probably benign	Het
Prune2	G	T	19: 17,145,691 (GRCm39)	A2764S	probably benign	Het
Ptpdc1	A	T	13: 48,740,221 (GRCm39)	D403E	probably benign	Het
Pxylp1	T	C	9: 96,722,089 (GRCm39)	E54G	probably damaging	Het
Rap1gap	G	A	4: 137,446,222 (GRCm39)	A325T	probably damaging	Het
Raver2	G	A	4: 100,977,387 (GRCm39)		probably benign	Het
Rbpj	T	C	5: 53,810,745 (GRCm39)	V455A	probably damaging	Het
Rptor	A	T	11: 119,702,823 (GRCm39)	I397F	probably benign	Het
Sacs	G	A	14: 61,421,499 (GRCm39)	M148I	probably benign	Het
Sec16b	A	G	1: 157,373,816 (GRCm39)	Q496R	probably damaging	Het
Sned1	C	A	1: 93,199,385 (GRCm39)	C488*	probably null	Het
Sorcs2	T	C	5: 36,183,225 (GRCm39)	D1016G	probably damaging	Het
Spta1	T	C	1: 174,045,204 (GRCm39)	M1517T	possibly damaging	Het
Them4	G	T	3: 94,231,630 (GRCm39)	G156C	probably damaging	Het
Tnik	T	C	3: 28,675,124 (GRCm39)	S721P	probably benign	Het
Trpm8	T	C	1: 88,246,767 (GRCm39)	S26P	probably damaging	Het
Ube2e3	A	G	2: 78,750,324 (GRCm39)	I183M	probably damaging	Het
Uhrf2	A	G	19: 30,055,416 (GRCm39)	Y389C	probably damaging	Het
Utp4	T	A	8: 107,642,828 (GRCm39)	D495E	possibly damaging	Het
Vill	C	A	9: 118,890,562 (GRCm39)	N158K	probably benign	Het
Vmn1r219	G	A	13: 23,347,399 (GRCm39)	G196E	probably damaging	Het
Vmn2r101	C	T	17: 19,811,395 (GRCm39)	S493L	probably benign	Het
Vmn2r61	A	G	7: 41,915,385 (GRCm39)	T111A	probably benign	Het
Zbtb40	G	T	4: 136,745,529 (GRCm39)	A168E	probably benign	Het
Zscan18	A	T	7: 12,508,054 (GRCm39)	I482N	probably damaging	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
R6141: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
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'- TACGATGCCAGGTAGCTACAAAG -3'
(R):5'- CCTCAAAGGTACAGGGAGCATTAG -3'

Sequencing Primer
(F):5'- AGGTACTTGTCTTCCCTCATGCTTAG -3'
(R):5'- CAGGGAGCATTAGATAATGTTCTTG -3'

Posted On

2022-03-25