Mutagenetix > Incidental Mutation

Incidental Mutation 'R5464:Sf3a3'

433150

Institutional Source

Beutler Lab

Gene Symbol

Sf3a3

Ensembl Gene

ENSMUSG00000028902

Gene Name

splicing factor 3a, subunit 3

Synonyms

4930512K19Rik, 60kDa

MMRRC Submission

042850-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124608569-124626253 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 124622033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030734]

AlphaFold

Q9D554

Predicted Effect

probably null
Transcript: ENSMUST00000030734

SMART Domains

Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902

Domain	Start	End	E-Value	Type
Pfam:SF3a60_bindingd	74	100	3e-19	PFAM
Pfam:SF3A3	129	207	7.9e-27	PFAM
Pfam:Telomere_Sde2_2	244	303	3.1e-31	PFAM
low complexity region	354	377	N/A	INTRINSIC
ZnF_C2H2	406	431	9.3e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151049

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,227 (GRCm39)	G180E	probably damaging	Het
Acsl1	T	A	8: 46,958,775 (GRCm39)	D95E	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adamts16	T	A	13: 70,909,868 (GRCm39)	H895L	probably benign	Het
Alox12e	T	C	11: 70,208,505 (GRCm39)	Y483C	probably damaging	Het
Atp13a2	T	A	4: 140,733,381 (GRCm39)	F952I	probably damaging	Het
Crot	T	G	5: 9,033,690 (GRCm39)		probably null	Het
Dnaja1	T	A	4: 40,724,133 (GRCm39)	M98K	probably benign	Het
Eps8	C	T	6: 137,504,473 (GRCm39)	G87R	probably damaging	Het
Flg2	C	A	3: 93,109,277 (GRCm39)	T435K	possibly damaging	Het
Gpatch4	T	C	3: 87,962,062 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,448,524 (GRCm39)	M1795K	probably benign	Het
Ift52	T	C	2: 162,871,735 (GRCm39)	V189A	probably benign	Het
Kif21a	T	A	15: 90,878,058 (GRCm39)	D250V	probably damaging	Het
Lrrc66	T	C	5: 73,765,622 (GRCm39)	T474A	probably benign	Het
Mcub	T	C	3: 129,709,365 (GRCm39)	E316G	probably benign	Het
Mettl15	C	T	2: 109,021,967 (GRCm39)	V113I	probably benign	Het
Mroh8	T	A	2: 157,063,150 (GRCm39)	I824F	probably damaging	Het
Mrpl19	A	G	6: 81,938,992 (GRCm39)	M270T	probably damaging	Het
Naa12	C	T	18: 80,255,138 (GRCm39)	A144V	probably damaging	Het
Or10d4	A	T	9: 39,581,066 (GRCm39)	T238S	probably damaging	Het
Or4ac1-ps1	T	C	2: 88,370,599 (GRCm39)	Y58C	probably null	Het
Or51a25	A	G	7: 102,373,124 (GRCm39)	V191A	possibly damaging	Het
Or51a39	T	C	7: 102,362,889 (GRCm39)	T244A	probably benign	Het
Or51a43	C	A	7: 103,717,674 (GRCm39)	R188L	possibly damaging	Het
Or51f5	A	G	7: 102,424,640 (GRCm39)	K303R	probably benign	Het
Or52a24	T	A	7: 103,381,396 (GRCm39)	W88R	probably damaging	Het
Or5ak23	AAGTCTGGAGTC	AAGTC	2: 85,245,057 (GRCm39)		probably null	Het
Or6x1	T	C	9: 40,099,080 (GRCm39)	I223T	probably damaging	Het
Pacs1	T	C	19: 5,197,235 (GRCm39)	M430V	probably benign	Het
Piezo2	A	G	18: 63,278,176 (GRCm39)	S243P	probably damaging	Het
Ppp1r36	A	T	12: 76,474,852 (GRCm39)		probably null	Het
Prdm16	T	A	4: 154,430,601 (GRCm39)		probably null	Het
Prss36	A	T	7: 127,533,405 (GRCm39)	W97R	probably damaging	Het
Psmg4	A	T	13: 34,362,047 (GRCm39)	I112F	probably damaging	Het
Ptpru	C	T	4: 131,499,868 (GRCm39)	G1259R	probably damaging	Het
Rsph4a	T	C	10: 33,785,337 (GRCm39)	I416T	possibly damaging	Het
Scn2a	C	T	2: 65,532,100 (GRCm39)	R571C	probably damaging	Het
Selenbp1	A	G	3: 94,851,727 (GRCm39)	M423V	probably benign	Het
Serpina3i	G	A	12: 104,234,751 (GRCm39)	A361T	possibly damaging	Het
Serpinb3c	A	T	1: 107,199,434 (GRCm39)	D362E	probably damaging	Het
Sgcg	A	G	14: 61,474,304 (GRCm39)	V113A	possibly damaging	Het
Slc3a2	T	C	19: 8,691,008 (GRCm39)	K74R	probably damaging	Het
Smco1	T	A	16: 32,092,694 (GRCm39)	W122R	probably damaging	Het
Snx19	A	G	9: 30,339,269 (GRCm39)	K136E	possibly damaging	Het
Trim32	A	G	4: 65,532,625 (GRCm39)	N394S	probably damaging	Het
Uqcrb	T	C	13: 67,048,889 (GRCm39)	D87G	probably damaging	Het
Wipf3	T	C	6: 54,462,308 (GRCm39)	S173P	possibly damaging	Het
Zfp473	T	C	7: 44,382,062 (GRCm39)	E756G	probably damaging	Het

Other mutations in Sf3a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Sf3a3	APN	4	124,612,136 (GRCm39)	missense	possibly damaging	0.93
IGL01623:Sf3a3	APN	4	124,612,136 (GRCm39)	missense	possibly damaging	0.93
PIT4495001:Sf3a3	UTSW	4	124,622,113 (GRCm39)	missense	probably damaging	1.00
R0070:Sf3a3	UTSW	4	124,608,748 (GRCm39)	missense	probably benign	0.04
R1441:Sf3a3	UTSW	4	124,618,935 (GRCm39)	missense	probably damaging	0.99
R1858:Sf3a3	UTSW	4	124,623,288 (GRCm39)	missense	probably damaging	1.00
R1928:Sf3a3	UTSW	4	124,615,886 (GRCm39)	missense	possibly damaging	0.56
R1943:Sf3a3	UTSW	4	124,609,694 (GRCm39)	missense	possibly damaging	0.95
R2101:Sf3a3	UTSW	4	124,612,136 (GRCm39)	missense	possibly damaging	0.93
R2984:Sf3a3	UTSW	4	124,612,202 (GRCm39)	missense	probably damaging	1.00
R3434:Sf3a3	UTSW	4	124,618,870 (GRCm39)	missense	possibly damaging	0.95
R4366:Sf3a3	UTSW	4	124,618,932 (GRCm39)	missense	probably benign
R4711:Sf3a3	UTSW	4	124,621,974 (GRCm39)	missense	probably benign	0.01
R5032:Sf3a3	UTSW	4	124,618,959 (GRCm39)	missense	probably benign	0.17
R5607:Sf3a3	UTSW	4	124,608,746 (GRCm39)	missense	probably damaging	1.00
R5997:Sf3a3	UTSW	4	124,615,851 (GRCm39)	missense	probably damaging	0.99
R6166:Sf3a3	UTSW	4	124,617,177 (GRCm39)	intron	probably benign
R7030:Sf3a3	UTSW	4	124,616,673 (GRCm39)	missense	probably damaging	1.00
R7038:Sf3a3	UTSW	4	124,622,219 (GRCm39)	missense	probably benign	0.16
R7157:Sf3a3	UTSW	4	124,616,693 (GRCm39)	missense	probably damaging	0.98
R7184:Sf3a3	UTSW	4	124,608,772 (GRCm39)	missense	probably benign	0.10
R7250:Sf3a3	UTSW	4	124,616,708 (GRCm39)	missense	probably benign	0.03
R9212:Sf3a3	UTSW	4	124,621,921 (GRCm39)	missense	possibly damaging	0.67
Z1176:Sf3a3	UTSW	4	124,608,694 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGTCTCACCTCAGGAACAGC -3'
(R):5'- TTCCCAAGAACAGTGGCTTTC -3'

Sequencing Primer
(F):5'- CGACAGCTCACTCATGAAAATGTTC -3'
(R):5'- AGAACAGTGGCTTTCAACTCCTTAC -3'

Posted On

2016-10-06