Mutagenetix > Incidental Mutation

Incidental Mutation 'R0371:Sf3b2'

65612

Institutional Source

Beutler Lab

Gene Symbol

Sf3b2

Ensembl Gene

ENSMUSG00000024853

Gene Name

splicing factor 3b, subunit 2

Synonyms

B230398H18Rik, SAP145, 2610311M13Rik, SF3b1, SF3b145, 2810441F20Rik, SF3b150, 145kDa

MMRRC Submission

038577-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R0371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5323960-5345483 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5324852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 845 (D845N)

Ref Sequence

ENSEMBL: ENSMUSP00000025774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025774] [ENSMUST00000025786]

AlphaFold

Q3UJB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025774
AA Change: D845N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025774
Gene: ENSMUSG00000024853
AA Change: D845N

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
SAP	24	58	1.84e-4	SMART
low complexity region	91	132	N/A	INTRINSIC
coiled coil region	140	178	N/A	INTRINSIC
low complexity region	201	221	N/A	INTRINSIC
low complexity region	225	237	N/A	INTRINSIC
low complexity region	264	280	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
low complexity region	383	397	N/A	INTRINSIC
low complexity region	408	437	N/A	INTRINSIC
Pfam:DUF382	453	579	2.9e-63	PFAM
PSP	584	642	9.41e-33	SMART
low complexity region	693	717	N/A	INTRINSIC
low complexity region	745	756	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025786

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
low complexity region	27	46	N/A	INTRINSIC
low complexity region	51	97	N/A	INTRINSIC
low complexity region	276	290	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
Pfam:Pacs-1	546	958	2e-193	PFAM

Meta Mutation Damage Score

0.2173

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,105,911 (GRCm39)	R1068C	probably benign	Het
Afmid	C	T	11: 117,725,966 (GRCm39)		probably benign	Het
Aqr	A	G	2: 113,988,085 (GRCm39)	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033 (GRCm39)	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,600,031 (GRCm39)	V178A	probably damaging	Het
Ccdc110	T	A	8: 46,395,843 (GRCm39)	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,398,674 (GRCm39)	E51*	probably null	Het
Cep290	T	A	10: 100,354,426 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,334,256 (GRCm39)	E914G	probably damaging	Het
Col6a2	T	C	10: 76,450,307 (GRCm39)	N208S	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,183,880 (GRCm39)	R229G	probably damaging	Het
Dach1	C	T	14: 98,207,339 (GRCm39)	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,271,186 (GRCm39)	N321S	probably benign	Het
Enpep	C	T	3: 129,077,516 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,404,929 (GRCm39)	L560P	probably damaging	Het
Fdxr	T	C	11: 115,166,915 (GRCm39)	H58R	possibly damaging	Het
Filip1	G	T	9: 79,767,373 (GRCm39)	P147T	probably damaging	Het
Fras1	G	A	5: 96,703,190 (GRCm39)	E318K	possibly damaging	Het
Grk2	T	C	19: 4,341,614 (GRCm39)		probably null	Het
Gvin-ps6	A	T	7: 106,021,986 (GRCm39)	C339S	unknown	Het
Havcr1	T	C	11: 46,643,416 (GRCm39)	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ildr2	G	A	1: 166,131,133 (GRCm39)	V330I	probably damaging	Het
Ino80d	T	C	1: 63,097,115 (GRCm39)		probably benign	Het
Iqsec1	A	G	6: 90,647,385 (GRCm39)		probably benign	Het
Irf2bpl	C	T	12: 86,928,417 (GRCm39)	W752*	probably null	Het
Kdr	T	A	5: 76,102,494 (GRCm39)	H1211L	probably benign	Het
Klri2	A	G	6: 129,709,106 (GRCm39)	*249R	probably null	Het
Ktn1	A	T	14: 47,961,460 (GRCm39)	K1054*	probably null	Het
Lactb2	A	G	1: 13,720,984 (GRCm39)	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560 (GRCm38)	C15*	probably null	Het
Mrs2	T	C	13: 25,177,078 (GRCm39)	I430V	probably benign	Het
Myo3b	C	T	2: 70,083,304 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,381,096 (GRCm39)	T696I	probably damaging	Het
Nsun6	T	C	2: 15,034,898 (GRCm39)	D240G	probably damaging	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or2a25	A	T	6: 42,888,872 (GRCm39)	R138S	probably benign	Het
Or3a1d	T	A	11: 74,237,760 (GRCm39)	I217F	probably damaging	Het
Or4k77	A	T	2: 111,199,498 (GRCm39)	I174L	probably benign	Het
Or5ac23	A	G	16: 59,149,585 (GRCm39)	C96R	possibly damaging	Het
Pabpc1l	G	A	2: 163,877,192 (GRCm39)	V256M	probably benign	Het
Sik1	T	C	17: 32,067,958 (GRCm39)	D409G	probably benign	Het
Slc22a22	A	T	15: 57,113,131 (GRCm39)	D369E	possibly damaging	Het
Smg1	T	A	7: 117,767,523 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,224,067 (GRCm39)	D27E	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorcs3	A	G	19: 48,592,333 (GRCm39)	I333V	probably benign	Het
Spag7	A	G	11: 70,555,622 (GRCm39)	M105T	probably damaging	Het
Srgap3	A	T	6: 112,748,432 (GRCm39)	S407T	probably damaging	Het
Supt6	T	C	11: 78,113,983 (GRCm39)	N854S	probably benign	Het
Syne2	T	C	12: 75,980,619 (GRCm39)	S1460P	probably damaging	Het
Taok3	C	T	5: 117,344,752 (GRCm39)	Q160*	probably null	Het
Tchhl1	C	A	3: 93,376,884 (GRCm39)	A27E	probably damaging	Het
Tet1	T	C	10: 62,714,178 (GRCm39)	D539G	probably damaging	Het
Tut1	T	C	19: 8,940,137 (GRCm39)	F374L	probably damaging	Het
Unc5c	C	T	3: 141,533,283 (GRCm39)	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,810,394 (GRCm39)	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,477,556 (GRCm39)	H285L	probably benign	Het
Wdr62	G	A	7: 29,941,583 (GRCm39)	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,679,549 (GRCm39)	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190 (GRCm39)	N106S	probably damaging	Het
Zfp345	G	T	2: 150,313,983 (GRCm39)	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,080,413 (GRCm39)	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,710,844 (GRCm39)	E89K	probably damaging	Het

Other mutations in Sf3b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Sf3b2	APN	19	5,329,615 (GRCm39)	missense	probably benign	0.00
IGL01737:Sf3b2	APN	19	5,329,866 (GRCm39)	splice site	probably benign
IGL02205:Sf3b2	APN	19	5,333,765 (GRCm39)	missense	probably benign	0.01
R0184:Sf3b2	UTSW	19	5,333,700 (GRCm39)	missense	probably damaging	1.00
R0370:Sf3b2	UTSW	19	5,324,852 (GRCm39)	missense	probably damaging	1.00
R0372:Sf3b2	UTSW	19	5,324,852 (GRCm39)	missense	probably damaging	1.00
R0373:Sf3b2	UTSW	19	5,324,852 (GRCm39)	missense	probably damaging	1.00
R0375:Sf3b2	UTSW	19	5,324,852 (GRCm39)	missense	probably damaging	1.00
R1606:Sf3b2	UTSW	19	5,338,026 (GRCm39)	missense	probably benign	0.00
R1609:Sf3b2	UTSW	19	5,345,061 (GRCm39)	unclassified	probably benign
R2566:Sf3b2	UTSW	19	5,325,118 (GRCm39)	missense	possibly damaging	0.92
R5163:Sf3b2	UTSW	19	5,325,165 (GRCm39)	missense	probably damaging	1.00
R6208:Sf3b2	UTSW	19	5,325,126 (GRCm39)	missense	possibly damaging	0.82
R6275:Sf3b2	UTSW	19	5,333,678 (GRCm39)	missense	probably damaging	1.00
R6644:Sf3b2	UTSW	19	5,329,992 (GRCm39)	splice site	probably null
R6986:Sf3b2	UTSW	19	5,329,923 (GRCm39)	missense	probably benign
R7007:Sf3b2	UTSW	19	5,324,545 (GRCm39)	missense	probably benign	0.13
R8428:Sf3b2	UTSW	19	5,337,242 (GRCm39)	missense	possibly damaging	0.52
R8677:Sf3b2	UTSW	19	5,336,257 (GRCm39)	missense	probably damaging	0.99
R9041:Sf3b2	UTSW	19	5,324,872 (GRCm39)	missense	possibly damaging	0.47
Z1177:Sf3b2	UTSW	19	5,324,978 (GRCm39)	missense	probably benign	0.06

Predicted Primers

Posted On

2013-08-08