Mutagenetix > Incidental Mutation

Incidental Mutation 'R6275:Sf3b2'

507611

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

044445-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5323960-5345483 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5333678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 640 (I640S)

Ref Sequence

ENSEMBL: ENSMUSP00000025774 (fasta)

Gene Model

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

AlphaFold

Q3UJB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025774
AA Change: I640S

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

SMART Domains

Protein: ENSMUSP00000025774
Gene: ENSMUSG00000024853
AA Change: I640S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,833,625 (GRCm39)	L30H	probably damaging	Het
Abcb6	T	C	1: 75,149,195 (GRCm39)		probably null	Het
Acsbg1	T	A	9: 54,517,056 (GRCm39)	M586L	probably benign	Het
Ano6	A	T	15: 95,811,314 (GRCm39)	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,830,575 (GRCm39)	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,531,519 (GRCm39)	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,036,489 (GRCm39)	M144I	probably damaging	Het
Cdca3	C	T	6: 124,809,627 (GRCm39)		probably null	Het
Ces1h	A	T	8: 94,099,274 (GRCm39)	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216 (GRCm39)	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,440,859 (GRCm39)	P126T	probably benign	Het
Dnah10	A	G	5: 124,862,248 (GRCm39)	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,269,311 (GRCm39)	N1147Y	possibly damaging	Het
Eif1ad15	T	C	12: 88,287,995 (GRCm39)	D86G	possibly damaging	Het
Eif1ad16	T	C	12: 87,985,255 (GRCm39)	N96S	probably benign	Het
Ermap	C	T	4: 119,035,747 (GRCm39)	V414M	probably damaging	Het
Fam13a	A	G	6: 58,931,242 (GRCm39)	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,896,153 (GRCm39)	H155R	possibly damaging	Het
Folr1	T	A	7: 101,508,742 (GRCm39)	N61I	probably damaging	Het
Fsip1	T	C	2: 118,035,583 (GRCm39)	I431V	probably benign	Het
Gm5493	A	T	17: 22,969,043 (GRCm39)	E74D	probably benign	Het
H2-Oa	A	G	17: 34,313,540 (GRCm39)	D197G	probably benign	Het
Hps1	T	C	19: 42,758,046 (GRCm39)	E169G	probably null	Het
Il17rc	A	T	6: 113,457,308 (GRCm39)	M372L	probably benign	Het
Itga10	A	G	3: 96,565,501 (GRCm39)	S1042G	probably benign	Het
Jchain	A	T	5: 88,669,212 (GRCm39)	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,473 (GRCm39)	T211A	probably benign	Het
Mal2	T	C	15: 54,435,035 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,910,823 (GRCm39)	I1071N	probably damaging	Het
Mpp2	T	A	11: 101,951,795 (GRCm39)	Y401F	probably damaging	Het
Myh15	A	G	16: 48,965,610 (GRCm39)	T1172A	probably benign	Het
Or51q1	T	A	7: 103,629,181 (GRCm39)	S261T	probably damaging	Het
Pcnx1	G	T	12: 81,965,381 (GRCm39)	S516I	probably benign	Het
Pidd1	C	T	7: 141,019,708 (GRCm39)	A685T	probably damaging	Het
Psg28	A	C	7: 18,164,365 (GRCm39)	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,329,458 (GRCm39)		probably benign	Het
Rapgefl1	T	A	11: 98,741,946 (GRCm39)	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,691,206 (GRCm39)	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408 (GRCm39)	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,863,985 (GRCm39)	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,614,979 (GRCm39)	Q289L	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc26a11	T	C	11: 119,250,125 (GRCm39)	F127L	probably benign	Het
Spata31h1	T	C	10: 82,121,202 (GRCm39)	D3936G	probably damaging	Het
Stac3	T	A	10: 127,343,615 (GRCm39)	Y252*	probably null	Het
Stoml3	G	A	3: 53,414,927 (GRCm39)	A240T	probably damaging	Het
Tanc1	A	T	2: 59,673,854 (GRCm39)	H1653L	probably benign	Het
Tll1	A	T	8: 64,504,401 (GRCm39)	L665*	probably null	Het
Tnr	A	C	1: 159,688,840 (GRCm39)	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,511,354 (GRCm39)	D165E	probably benign	Het
Tsc2	A	G	17: 24,819,394 (GRCm39)	V1185A	probably benign	Het
Tulp4	A	G	17: 6,249,011 (GRCm39)	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,261,980 (GRCm39)	M72K	possibly damaging	Het
Usp42	G	A	5: 143,700,727 (GRCm39)	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883 (GRCm39)	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,418,972 (GRCm39)	L659*	probably null	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
R0371: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
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

PCR Primer
(F):5'- CCTGTGCATGCAACAGAAAG -3'
(R):5'- CTGAGTGCTTGGGAAAGCTG -3'

Sequencing Primer
(F):5'- CAGATCTCTGTGAGTTCAAAGCCG -3'
(R):5'- TGCTTGGGAAAGCTGGAGAG -3'

Posted On

2018-03-15