Mutagenetix > Incidental Mutation

Incidental Mutation 'R6166:Sf3a3'

523280

Institutional Source

Beutler Lab

Gene Symbol

Sf3a3

Ensembl Gene

ENSMUSG00000028902

Gene Name

splicing factor 3a, subunit 3

Synonyms

4930512K19Rik, 60kDa

MMRRC Submission

044312-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R6166 (G1)

Quality Score

113.133

Status

Validated

Chromosome

Chromosomal Location

124608569-124626253 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 124617177 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030734 (fasta)

Gene Model

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

AlphaFold

Q9D554

Predicted Effect

probably benign
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: ENSMUST00000119850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154712

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

97% (57/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	A	T	12: 84,039,378 (GRCm39)	N296Y	probably damaging	Het
Ago2	T	A	15: 72,996,089 (GRCm39)	I347L	probably benign	Het
Aldh1l2	C	T	10: 83,329,288 (GRCm39)		probably null	Het
Ap1ar	A	G	3: 127,606,177 (GRCm39)		probably null	Het
Arap3	T	C	18: 38,107,423 (GRCm39)	T1365A	probably damaging	Het
Arhgef17	A	T	7: 100,525,699 (GRCm39)	H1966Q	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atg13	G	T	2: 91,506,736 (GRCm39)	Q479K	probably damaging	Het
Bmp8a	T	C	4: 123,218,471 (GRCm39)	T183A	probably benign	Het
Camta2	G	C	11: 70,565,087 (GRCm39)		probably null	Het
Catspere2	A	G	1: 177,931,403 (GRCm39)	T441A	unknown	Het
Ccdc40	T	C	11: 119,122,827 (GRCm39)	S210P	probably benign	Het
Cnn2	A	G	10: 79,824,561 (GRCm39)	E17G	possibly damaging	Het
Cnot6l	T	C	5: 96,227,799 (GRCm39)	D478G	possibly damaging	Het
Cplane1	A	G	15: 8,216,044 (GRCm39)	H478R	probably benign	Het
Csf2rb	A	G	15: 78,228,766 (GRCm39)	Y369C	probably damaging	Het
Dll4	A	G	2: 119,165,107 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,780,316 (GRCm39)	V1039A	probably benign	Het
Fam117a	T	C	11: 95,271,607 (GRCm39)	M393T	possibly damaging	Het
Fancd2	T	A	6: 113,532,212 (GRCm39)	N508K	possibly damaging	Het
Fat1	T	C	8: 45,405,522 (GRCm39)	S758P	probably damaging	Het
Fgf20	T	C	8: 40,732,881 (GRCm39)	K186E	probably damaging	Het
Filip1	T	C	9: 79,726,736 (GRCm39)	K628E	probably damaging	Het
Fsip2	G	T	2: 82,811,071 (GRCm39)	K2463N	probably benign	Het
Gm15446	T	A	5: 110,090,646 (GRCm39)	Y299*	probably null	Het
Gm7363	A	T	7: 3,986,784 (GRCm39)		noncoding transcript	Het
Gpx5	A	T	13: 21,473,435 (GRCm39)	F104I	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hmcn2	G	A	2: 31,259,274 (GRCm39)	G1038D	probably damaging	Het
Lgals9	C	T	11: 78,862,184 (GRCm39)	A134T	probably benign	Het
Lrba	G	A	3: 86,261,614 (GRCm39)		probably null	Het
Lypd10	A	T	7: 24,413,644 (GRCm39)	Q220L	probably benign	Het
Naprt	T	C	15: 75,763,326 (GRCm39)	Q439R	possibly damaging	Het
Ndufs6	G	A	13: 73,466,060 (GRCm39)		probably benign	Het
Nodal	C	A	10: 61,260,337 (GRCm39)	S329R	probably damaging	Het
Olfm3	T	A	3: 114,916,074 (GRCm39)	N315K	probably damaging	Het
Or4k2	C	T	14: 50,424,225 (GRCm39)	V150I	probably benign	Het
Or6c3b	A	T	10: 129,527,148 (GRCm39)	I254K	probably damaging	Het
Or6k2	A	G	1: 173,986,659 (GRCm39)	T107A	probably benign	Het
Plg	T	A	17: 12,617,001 (GRCm39)	V373E	probably damaging	Het
Prdm2	A	C	4: 142,861,306 (GRCm39)	S661R	probably damaging	Het
Psg21	A	T	7: 18,390,664 (GRCm39)		probably benign	Het
Rhobtb2	T	C	14: 70,035,627 (GRCm39)	D148G	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,322,543 (GRCm39)	N116K	probably damaging	Het
Slc38a9	T	G	13: 112,831,801 (GRCm39)	Y184D	possibly damaging	Het
Sowahc	A	G	10: 59,058,182 (GRCm39)	D106G	probably benign	Het
Srbd1	T	C	17: 86,406,696 (GRCm39)	Y563C	probably damaging	Het
Src	A	G	2: 157,310,442 (GRCm39)	Y359C	probably damaging	Het
Tbc1d9b	A	G	11: 50,026,673 (GRCm39)	D47G	probably damaging	Het
Tctn3	T	C	19: 40,585,923 (GRCm39)	K541E	possibly damaging	Het
Tgm7	A	G	2: 120,929,539 (GRCm39)	V245A	probably damaging	Het
Thbs2	C	T	17: 14,900,650 (GRCm39)	R519H	probably damaging	Het
Tm4sf19	T	C	16: 32,226,681 (GRCm39)	S157P	probably damaging	Het
Trio	C	T	15: 27,818,157 (GRCm39)	S507N	probably damaging	Het
Trrap	T	A	5: 144,718,791 (GRCm39)	H152Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,427,947 (GRCm39)	L773P	probably damaging	Het
Vmn2r70	A	G	7: 85,215,189 (GRCm39)	L115P	probably benign	Het
Wdr59	C	T	8: 112,199,293 (GRCm39)	R631H	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
R5464:Sf3a3	UTSW	4	124,622,033 (GRCm39)	critical splice donor site	probably null
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
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'- AGATTGCTCTGTGACTCCTGAC -3'
(R):5'- GGAGCTATCTAACTTCCCAGGAC -3'

Sequencing Primer
(F):5'- TGTGACTCCTGACCAAAATCTG -3'
(R):5'- GCTATCTAACTTCCCAGGACTATCTG -3'

Posted On

2018-06-18