Mutagenetix > Incidental Mutation

Incidental Mutation 'R7007:Sf3b2'

544804

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

045109-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5323960-5345483 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5324545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 859 (R859Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025774 (fasta)

Gene Model

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

AlphaFold

Q3UJB0

Predicted Effect

probably benign
Transcript: ENSMUST00000025774
AA Change: R859Q

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025774
Gene: ENSMUSG00000024853
AA Change: R859Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (63/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,121 (GRCm39)	T57I	probably benign	Het
Adcy8	T	C	15: 64,576,565 (GRCm39)	N999S	possibly damaging	Het
Adgrv1	T	A	13: 81,684,483 (GRCm39)	I1073F	possibly damaging	Het
Akap3	A	G	6: 126,843,439 (GRCm39)	D686G	probably damaging	Het
Alg2	A	T	4: 47,471,881 (GRCm39)	I309N	probably benign	Het
Ankrd36	A	G	11: 5,639,168 (GRCm39)	E1360G	probably benign	Het
Aox1	C	A	1: 58,370,051 (GRCm39)	Q788K	probably damaging	Het
Apoc2	A	T	7: 19,407,282 (GRCm39)	D26E	possibly damaging	Het
Bbx	G	A	16: 50,022,851 (GRCm39)	T703I	possibly damaging	Het
C2cd4d	T	C	3: 94,271,378 (GRCm39)	Y215H	probably benign	Het
C3	C	T	17: 57,525,809 (GRCm39)	E858K	probably benign	Het
Ciita	T	C	16: 10,329,171 (GRCm39)	L482P	probably damaging	Het
Cldn9	T	C	17: 23,902,052 (GRCm39)	E191G	probably benign	Het
Cnst	T	A	1: 179,438,133 (GRCm39)	S566T	probably damaging	Het
Col5a2	A	G	1: 45,417,609 (GRCm39)	I1322T	possibly damaging	Het
Cp	G	A	3: 20,024,137 (GRCm39)	V326M	probably damaging	Het
Cyp7b1	G	A	3: 18,151,782 (GRCm39)	Q144*	probably null	Het
Dnah10	T	C	5: 124,864,490 (GRCm39)	S2232P	probably damaging	Het
Dnah17	T	C	11: 118,009,697 (GRCm39)	E625G	possibly damaging	Het
Dnah7c	T	A	1: 46,571,910 (GRCm39)	D794E	probably benign	Het
Dusp10	G	A	1: 183,769,414 (GRCm39)	V127M	probably benign	Het
Dysf	G	C	6: 84,090,962 (GRCm39)	W1015C	probably damaging	Het
Fbxw17	T	C	13: 50,577,808 (GRCm39)	Y104H	probably damaging	Het
Gm6408	G	A	5: 146,420,647 (GRCm39)	E176K	probably damaging	Het
Gp1bb	T	A	16: 18,439,689 (GRCm39)	D135V	possibly damaging	Het
Gprin1	C	T	13: 54,886,069 (GRCm39)	C735Y	probably damaging	Het
Heatr9	T	A	11: 83,411,446 (GRCm39)	M30L	possibly damaging	Het
Hhat	G	A	1: 192,376,134 (GRCm39)	T333I	possibly damaging	Het
Htr5b	A	G	1: 121,438,223 (GRCm39)	F336S	probably damaging	Het
Ippk	T	G	13: 49,590,181 (GRCm39)		probably null	Het
Jph1	T	A	1: 17,074,410 (GRCm39)	H11L	possibly damaging	Het
Kif12	T	A	4: 63,084,717 (GRCm39)	I534L	probably benign	Het
Lemd3	A	T	10: 120,788,137 (GRCm39)	F523I	probably benign	Het
Lgsn	C	A	1: 31,229,508 (GRCm39)	H76Q	probably benign	Het
Lipm	T	A	19: 34,089,497 (GRCm39)	W152R	probably damaging	Het
Mei1	A	T	15: 81,978,200 (GRCm39)	R216W	probably damaging	Het
Mybpc1	C	T	10: 88,389,274 (GRCm39)	G379S	probably damaging	Het
Myh8	A	G	11: 67,179,142 (GRCm39)	T512A	probably benign	Het
Nf1	A	G	11: 79,337,849 (GRCm39)		probably null	Het
Npc1	T	C	18: 12,343,605 (GRCm39)	T463A	probably benign	Het
Or12e10	A	G	2: 87,640,230 (GRCm39)	N22S	probably damaging	Het
Or2y13	G	A	11: 49,415,011 (GRCm39)	V154M	probably benign	Het
Or6c7	A	T	10: 129,323,277 (GRCm39)	I133F	probably damaging	Het
Osbpl11	T	G	16: 33,047,309 (GRCm39)	I424R	possibly damaging	Het
Pnma8b	A	T	7: 16,680,181 (GRCm39)	K388N	possibly damaging	Het
Ppp1r26	A	T	2: 28,341,171 (GRCm39)	K267I	probably damaging	Het
Psmb5	A	T	14: 54,854,166 (GRCm39)	M104K	probably damaging	Het
Ptges2	T	C	2: 32,292,318 (GRCm39)	V378A	probably benign	Het
Rcan2	C	T	17: 44,147,216 (GRCm39)	S18F	probably benign	Het
Saxo5	A	T	8: 3,526,309 (GRCm39)	D154V	probably damaging	Het
Slc7a1	G	A	5: 148,289,256 (GRCm39)			Het
Spata31d1a	T	A	13: 59,851,448 (GRCm39)	T227S	probably benign	Het
Sptbn2	T	A	19: 4,794,173 (GRCm39)	V1459E	possibly damaging	Het
Srgap2	T	C	1: 131,247,275 (GRCm39)	I586V	probably benign	Het
St6galnac1	G	A	11: 116,657,833 (GRCm39)	R356*	probably null	Het
Taf5	T	A	19: 47,059,650 (GRCm39)	F265I	probably damaging	Het
Tkfc	T	A	19: 10,573,727 (GRCm39)	I229L	probably benign	Het
Tmem132c	T	A	5: 127,436,679 (GRCm39)	L56Q	probably damaging	Het
Togaram2	C	T	17: 72,016,638 (GRCm39)	A665V	probably damaging	Het
Ttn	G	A	2: 76,537,390 (GRCm39)	T34846I	probably benign	Het
Tyr	G	A	7: 87,142,548 (GRCm39)	A4V	probably benign	Het
Ubap2	A	C	4: 41,206,221 (GRCm39)	F549L	probably damaging	Het
Usp2	T	C	9: 44,001,339 (GRCm39)	S294P	probably damaging	Het
Vrk3	A	G	7: 44,407,187 (GRCm39)	N53D	probably damaging	Het
Zfp324	T	C	7: 12,705,142 (GRCm39)	S444P	probably damaging	Het
Zfp597	T	C	16: 3,683,791 (GRCm39)	I322V	probably benign	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
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
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'- TCATCCTTCCTTGGGAAACAGC -3'
(R):5'- TCCATTGGTGGCAGTCTCTTAAG -3'

Sequencing Primer
(F):5'- CTTCCTTGGGAAACAGCTTTATTTAC -3'
(R):5'- GGCAGTCTCTTAAGTTCAGGAAG -3'

Posted On

2019-05-13