Mutagenetix > Incidental Mutation

Incidental Mutation 'R5318:Snupn'

405932

Institutional Source

Beutler Lab

Gene Symbol

Snupn

Ensembl Gene

ENSMUSG00000055334

Gene Name

snurportin 1

Synonyms

0610031A09Rik, Rnut1

MMRRC Submission

042901-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R5318 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

56858162-56890490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56864345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 15 (S15P)

Ref Sequence

ENSEMBL: ENSMUSP00000067200 (fasta)

Gene Model

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

AlphaFold

Q80W37

Predicted Effect

probably damaging
Transcript: ENSMUST00000068856
AA Change: S15P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067200
Gene: ENSMUSG00000055334
AA Change: S15P

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.7%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	A	17: 35,878,883 (GRCm39)	E74K	possibly damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ankfn1	A	G	11: 89,282,754 (GRCm39)	S298P	probably damaging	Het
Arfgef2	A	C	2: 166,715,891 (GRCm39)	K1393N	probably damaging	Het
Atp4a	T	A	7: 30,414,754 (GRCm39)	V181E	probably damaging	Het
Bin3	A	G	14: 70,371,961 (GRCm39)	D134G	possibly damaging	Het
Cabs1	A	G	5: 88,128,425 (GRCm39)	T359A	possibly damaging	Het
Cblb	A	T	16: 52,006,561 (GRCm39)	K754N	possibly damaging	Het
Ccdc153	A	T	9: 44,157,062 (GRCm39)	R135*	probably null	Het
Cel	T	C	2: 28,447,720 (GRCm39)	E398G	possibly damaging	Het
Clip1	G	A	5: 123,751,147 (GRCm39)		probably benign	Het
Dnase2b	C	A	3: 146,288,210 (GRCm39)	R295L	probably benign	Het
Dnm3	G	A	1: 161,839,376 (GRCm39)	Q194*	probably null	Het
Dtx2	T	A	5: 136,040,954 (GRCm39)	S120T	possibly damaging	Het
Fat3	A	T	9: 16,287,925 (GRCm39)	S533T	probably damaging	Het
Foxred2	T	C	15: 77,836,598 (GRCm39)	I306V	probably benign	Het
Gdpd5	A	T	7: 99,102,234 (GRCm39)	T278S	probably benign	Het
Gli2	T	A	1: 118,772,200 (GRCm39)	T502S	probably damaging	Het
Gm21830	A	T	2: 67,263,158 (GRCm39)		probably null	Het
Gm5617	T	A	9: 48,407,211 (GRCm39)	I115N	possibly damaging	Het
Gpr75	G	T	11: 30,842,459 (GRCm39)	A455S	probably benign	Het
Grik3	A	G	4: 125,587,929 (GRCm39)	E683G	probably damaging	Het
Grin2b	T	C	6: 135,710,916 (GRCm39)	I877V	probably damaging	Het
Gsg1l2	G	T	11: 67,673,347 (GRCm39)	C109F	possibly damaging	Het
H2-Q4	G	A	17: 35,602,287 (GRCm39)	V341I	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kif5c	A	G	2: 49,561,840 (GRCm39)	K68R	probably benign	Het
Lct	T	A	1: 128,232,109 (GRCm39)	H580L	probably damaging	Het
Lrrtm4	A	G	6: 79,999,495 (GRCm39)	I302M	probably damaging	Het
Mef2b	A	T	8: 70,619,493 (GRCm39)	R228W	probably damaging	Het
Mtus2	T	A	5: 148,013,382 (GRCm39)	D58E	probably benign	Het
Myh15	T	G	16: 48,930,834 (GRCm39)	S603A	probably damaging	Het
Or1x2	T	C	11: 50,918,420 (GRCm39)	V197A	probably benign	Het
Or8d1	C	T	9: 38,766,744 (GRCm39)	P129S	probably damaging	Het
Or8s2	A	G	15: 98,276,523 (GRCm39)	I156T	possibly damaging	Het
P2rx4	G	A	5: 122,857,211 (GRCm39)	C149Y	probably null	Het
Pramel51	A	T	12: 88,142,998 (GRCm39)	C207S	probably benign	Het
Proca1	T	A	11: 78,092,683 (GRCm39)	V43E	possibly damaging	Het
Rftn1	G	T	17: 50,301,486 (GRCm39)	N454K	probably benign	Het
Rrp15	T	C	1: 186,453,743 (GRCm39)	T235A	probably benign	Het
Serpina6	T	C	12: 103,620,221 (GRCm39)	E176G	possibly damaging	Het
Shprh	T	G	10: 11,042,301 (GRCm39)	I761M	probably benign	Het
Smg1	A	T	7: 117,759,427 (GRCm39)		probably benign	Het
Tbc1d15	A	T	10: 115,044,874 (GRCm39)	Y509*	probably null	Het
Tcf4	T	C	18: 69,598,501 (GRCm39)	V72A	probably benign	Het
Tdrd3	T	C	14: 87,714,899 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,029,576 (GRCm39)	V175D	probably benign	Het
Vmn1r201	T	C	13: 22,659,092 (GRCm39)	L102P	probably damaging	Het
Wdfy4	T	A	14: 32,800,300 (GRCm39)	N1788I	possibly damaging	Het
Xpc	A	C	6: 91,469,992 (GRCm39)	V744G	probably damaging	Het
Xrcc6	T	C	15: 81,921,708 (GRCm39)	F178L	probably damaging	Het
Zbed6	A	G	1: 133,585,853 (GRCm39)	S495P	possibly damaging	Het
Zfyve26	A	G	12: 79,317,624 (GRCm39)	V1196A	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
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
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'- ATTCATTGGAGGAGATTTGTTCATTT -3'
(R):5'- CTGCCTGCGACTGATTCC -3'

Sequencing Primer
(F):5'- TTGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TGCGACTGATTCCCAGCC -3'

Posted On

2016-07-22