Mutagenetix > Incidental Mutation

Incidental Mutation 'R8946:Snrnp27'

681292

Institutional Source

Beutler Lab

Gene Symbol

Snrnp27

Ensembl Gene

ENSMUSG00000001158

Gene Name

small nuclear ribonucleoprotein 27 (U4/U6.U5)

Synonyms

2610209M04Rik

MMRRC Submission

068784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86652151-86661473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86653226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 131 (V131M)

Ref Sequence

ENSEMBL: ENSMUSP00000001186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001186] [ENSMUST00000113683]

AlphaFold

Q8K194

Predicted Effect

probably damaging
Transcript: ENSMUST00000001186
AA Change: V131M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000001186
Gene: ENSMUSG00000001158
AA Change: V131M

Domain	Start	End	E-Value	Type
Pfam:DUF1777	1	151	1.8e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113683
AA Change: V131M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109313
Gene: ENSMUSG00000001158
AA Change: V131M

Domain	Start	End	E-Value	Type
Pfam:DUF1777	1	139	1.9e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	G	10: 4,304,368 (GRCm39)	S393G	probably damaging	Het
Ankrd28	A	G	14: 31,430,083 (GRCm39)	F862L	probably damaging	Het
Ankrd31	T	C	13: 97,046,037 (GRCm39)	*1546Q	probably null	Het
Ankrd33b	T	C	15: 31,297,894 (GRCm39)	T288A	probably benign	Het
Aox1	T	C	1: 58,145,227 (GRCm39)	I1331T	possibly damaging	Het
Atp13a5	A	G	16: 29,146,601 (GRCm39)	L231P	probably damaging	Het
C1qtnf12	T	C	4: 156,050,882 (GRCm39)	F284L	probably damaging	Het
Caprin1	A	T	2: 103,608,378 (GRCm39)	H250Q	probably damaging	Het
Cd2bp2	A	C	7: 126,793,923 (GRCm39)	I122S	probably damaging	Het
Cd300lf	T	A	11: 115,024,738 (GRCm39)		probably benign	Het
Ceacam14	A	G	7: 17,547,999 (GRCm39)	I30V	probably benign	Het
Chchd1	T	A	14: 20,753,385 (GRCm39)	*56R	probably null	Het
Ckap5	A	G	2: 91,409,861 (GRCm39)	T948A	probably benign	Het
Clec12a	A	T	6: 129,340,949 (GRCm39)	N243I	possibly damaging	Het
Col11a2	A	G	17: 34,270,757 (GRCm39)	M462V	probably benign	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Csnka2ip	T	C	16: 64,300,667 (GRCm39)		probably benign	Het
D130040H23Rik	C	A	8: 69,755,033 (GRCm39)	T146N	possibly damaging	Het
Dennd5b	T	C	6: 148,943,485 (GRCm39)		probably benign	Het
Fanci	A	G	7: 79,045,726 (GRCm39)	T23A	probably benign	Het
Fmnl1	T	C	11: 103,071,741 (GRCm39)	Y83H	probably damaging	Het
Galnt13	C	A	2: 54,770,075 (GRCm39)	T289N	probably benign	Het
Gcn1	A	G	5: 115,733,404 (GRCm39)	D1074G	probably benign	Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,492,669 (GRCm39)		probably null	Het
Gnl1	T	C	17: 36,294,479 (GRCm39)	I366T	probably benign	Het
Gtf2ird2	A	T	5: 134,245,161 (GRCm39)	Y473F	probably damaging	Het
Ikzf1	T	A	11: 11,719,485 (GRCm39)	D397E	possibly damaging	Het
Ints15	C	G	5: 143,300,795 (GRCm39)	E19Q	probably benign	Het
Intu	C	T	3: 40,637,789 (GRCm39)	A425V	possibly damaging	Het
Irag1	A	T	7: 110,477,347 (GRCm39)		probably null	Het
Jakmip1	G	A	5: 37,343,084 (GRCm39)		probably null	Het
Lif	C	A	11: 4,219,225 (GRCm39)	P168Q	possibly damaging	Het
Myh11	A	C	16: 14,048,580 (GRCm39)	S576A	probably benign	Het
Neb	A	G	2: 52,041,425 (GRCm39)	V6559A	probably damaging	Het
Nphs1	A	G	7: 30,162,625 (GRCm39)	N368S	probably damaging	Het
Npsr1	G	A	9: 24,224,525 (GRCm39)	V148I	probably benign	Het
Or51f1	C	A	7: 102,505,725 (GRCm39)	G255*	probably null	Het
Or52ab4	T	C	7: 102,987,573 (GRCm39)	F104S	probably damaging	Het
Or56a5	T	A	7: 104,792,832 (GRCm39)	I223F	probably damaging	Het
Or5b111	A	T	19: 13,291,502 (GRCm39)	L49Q	probably damaging	Het
Or7e166	C	T	9: 19,624,885 (GRCm39)	T254I	probably damaging	Het
Patz1	T	C	11: 3,241,856 (GRCm39)	C415R	probably damaging	Het
Pcdha9	A	T	18: 37,131,546 (GRCm39)	N205I	possibly damaging	Het
Pcdhga12	A	T	18: 37,899,711 (GRCm39)	E181V	probably benign	Het
Pcnx1	T	C	12: 82,018,158 (GRCm39)	Y1333H	probably damaging	Het
Phf7	A	T	14: 30,970,106 (GRCm39)		probably benign	Het
Pomc	T	G	12: 4,010,298 (GRCm39)	S180A	probably benign	Het
Ppp1r7	T	A	1: 93,288,536 (GRCm39)		probably null	Het
Prrc2c	A	T	1: 162,536,478 (GRCm39)		probably benign	Het
Rsf1	GGC	GGCCACGGCCGC	7: 97,229,113 (GRCm39)		probably benign	Het
Semp2l1	C	T	1: 32,585,685 (GRCm39)	R75Q	probably benign	Het
Senp1	T	C	15: 97,940,782 (GRCm39)	K664E	probably damaging	Het
Skint7	A	G	4: 111,839,198 (GRCm39)	N164S	possibly damaging	Het
Smg1	C	A	7: 117,751,900 (GRCm39)	R2775M	probably null	Het
Spire1	C	A	18: 67,629,686 (GRCm39)	R357L	probably damaging	Het
Sspo	G	A	6: 48,434,071 (GRCm39)	V959I	probably damaging	Het
St6galnac2	T	C	11: 116,568,458 (GRCm39)	H335R	probably damaging	Het
Stard13	C	T	5: 150,984,267 (GRCm39)	R623H	probably damaging	Het
Syde1	T	A	10: 78,424,683 (GRCm39)	E383V	probably damaging	Het
Taf10	A	G	7: 105,393,524 (GRCm39)	M1T	probably null	Het
Traf3ip3	A	G	1: 192,869,415 (GRCm39)	C257R	probably damaging	Het
Trpm8	G	A	1: 88,276,061 (GRCm39)		probably benign	Het
Veph1	A	G	3: 66,171,301 (GRCm39)		probably null	Het
Vmn1r169	A	T	7: 23,276,640 (GRCm39)	T11S	possibly damaging	Het
Wdhd1	A	T	14: 47,482,752 (GRCm39)	S961T	probably benign	Het
Zfp773	T	C	7: 7,135,469 (GRCm39)	T376A	possibly damaging	Het

Other mutations in Snrnp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02028:Snrnp27	APN	6	86,659,955 (GRCm39)	missense	unknown
IGL03198:Snrnp27	APN	6	86,659,968 (GRCm39)	splice site	probably null
PIT4131001:Snrnp27	UTSW	6	86,659,893 (GRCm39)	missense	unknown
R0136:Snrnp27	UTSW	6	86,653,187 (GRCm39)	missense	probably benign	0.07
R0242:Snrnp27	UTSW	6	86,652,575 (GRCm39)	unclassified	probably benign
R0375:Snrnp27	UTSW	6	86,657,935 (GRCm39)	missense	possibly damaging	0.83
R2164:Snrnp27	UTSW	6	86,653,196 (GRCm39)	missense	probably benign	0.03
R5245:Snrnp27	UTSW	6	86,659,941 (GRCm39)	missense	unknown
R6042:Snrnp27	UTSW	6	86,659,902 (GRCm39)	missense	unknown
R7667:Snrnp27	UTSW	6	86,657,935 (GRCm39)	missense	possibly damaging	0.83
R8812:Snrnp27	UTSW	6	86,653,196 (GRCm39)	missense	probably benign	0.03
R9330:Snrnp27	UTSW	6	86,653,184 (GRCm39)	missense	probably benign	0.03
R9413:Snrnp27	UTSW	6	86,653,255 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGGCAGAGCTAGTTGTTACC -3'
(R):5'- CAGCCCCAAATGACTGCTTATTTG -3'

Sequencing Primer
(F):5'- GTTGTTACCATGTAAATTGGAAGGAC -3'
(R):5'- CCCAAATGACTGCTTATTTGTACAC -3'

Posted On

2021-08-31