Mutagenetix > Incidental Mutations

Incidental Mutation 'R7184:Sf3a3'

559168

Institutional Source

Beutler Lab

Gene Symbol

Sf3a3

Ensembl Gene

ENSMUSG00000028902

Gene Name

splicing factor 3a, subunit 3

Synonyms

4930512K19Rik, 60kDa

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124714776-124732460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124714979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 29 (K29E)

Ref Sequence

ENSEMBL: ENSMUSP00000030734 (fasta)

Gene Model

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

AlphaFold

Q9D554

Predicted Effect

probably benign
Transcript: ENSMUST00000030734
AA Change: K29E

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: K29E

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

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,154,515	N294S	probably benign	Het
Aass	A	G	6: 23,094,220	S500P	possibly damaging	Het
Aldh9a1	T	A	1: 167,357,396	N292K	probably benign	Het
Art2b	A	T	7: 101,580,451	S80R	probably benign	Het
Atp6v1b2	G	T	8: 69,102,567	A194S	possibly damaging	Het
Bsnd	T	C	4: 106,491,912	M44V	probably damaging	Het
Cadps2	A	T	6: 23,583,429	V383E	probably benign	Het
Cd93	T	C	2: 148,442,539	T296A	possibly damaging	Het
Cdk15	G	T	1: 59,265,655	E138D	probably benign	Het
Cdon	A	G	9: 35,463,895	I406V	probably benign	Het
Cyp3a41a	A	G	5: 145,705,853	V232A	probably benign	Het
Dbndd1	T	A	8: 123,509,121	D130V	probably damaging	Het
Dnah14	C	T	1: 181,704,529	R2294*	probably null	Het
Eddm3b	A	G	14: 51,116,930	Y125C	probably damaging	Het
Enah	A	T	1: 181,922,392	V294E	probably damaging	Het
Farp2	A	G	1: 93,603,415	E545G	probably damaging	Het
Farsb	T	C	1: 78,482,357	E22G	possibly damaging	Het
Fezf1	A	G	6: 23,247,836	V80A	probably benign	Het
Fpr2	T	C	17: 17,893,271	Y39H	unknown	Het
Fsd1l	C	A	4: 53,694,054	R344S	probably damaging	Het
Fuk	G	A	8: 110,887,156	P758S	probably damaging	Het
Fxyd1	G	T	7: 31,051,976	R90S	unknown	Het
Galnt4	T	A	10: 99,108,604	Y64N	probably damaging	Het
Gatb	C	T	3: 85,636,951	Q409*	probably null	Het
Glipr2	A	C	4: 43,968,667	D73A	possibly damaging	Het
Gm2035	G	A	12: 87,919,722	R46W	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm4788	A	G	1: 139,733,084	V622A	possibly damaging	Het
Gpr88	C	T	3: 116,251,994	V223I	possibly damaging	Het
Gtf2h3	A	G	5: 124,584,004	N55S	probably benign	Het
Htr4	T	A	18: 62,437,427	C184*	probably null	Het
Ighv6-3	T	A	12: 114,391,855	R71S	probably benign	Het
Itpr2	G	C	6: 146,311,087	I1510M	possibly damaging	Het
Keap1	T	C	9: 21,233,838	Q292R	probably benign	Het
Malt1	A	C	18: 65,447,693	E219D	probably benign	Het
Manba	T	C	3: 135,523,154	V279A	possibly damaging	Het
Map4k5	T	A	12: 69,874,321	H41L	probably benign	Het
Mcm2	T	G	6: 88,891,794	Y327S	probably damaging	Het
Nectin3	A	G	16: 46,395,121	I503T	possibly damaging	Het
Nqo1	T	C	8: 107,392,647	I99M	probably damaging	Het
Nrxn2	A	G	19: 6,490,552	H845R	probably damaging	Het
Otogl	C	T	10: 107,763,200	C2254Y	probably damaging	Het
Pmm1	T	C	15: 81,956,214	N110S	probably damaging	Het
Poc1b	G	T	10: 99,134,337	C68F	probably benign	Het
Polr1b	A	G	2: 129,123,922	Y828C	possibly damaging	Het
Prl3d1	A	G	13: 27,098,636	H119R	probably damaging	Het
Pum3	A	G	19: 27,426,012	S30P	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rusc1	T	C	3: 89,091,887	E196G	possibly damaging	Het
Slc13a1	A	T	6: 24,092,312	I475K	probably damaging	Het
Slc26a5	G	T	5: 21,837,246	Y237*	probably null	Het
Slc7a14	C	T	3: 31,227,063	G366D	probably damaging	Het
Tbc1d5	A	G	17: 50,800,082	V482A	probably benign	Het
Tdrd5	G	T	1: 156,259,935	Q883K	probably benign	Het
Tet2	T	C	3: 133,473,630	Y1258C	probably damaging	Het
Upf2	A	G	2: 6,023,320	D739G	unknown	Het
Vmn1r122	A	T	7: 21,133,895	F78L	probably benign	Het
Vmn1r75	A	T	7: 11,880,988	K216*	probably null	Het
Vmn2r11	A	T	5: 109,053,415	Y408N	probably damaging	Het
Wscd1	T	A	11: 71,788,717	V472D	probably damaging	Het
Zdbf2	G	T	1: 63,306,505	V1348F	possibly damaging	Het
Zfp442	G	T	2: 150,408,136	H615Q	possibly damaging	Het
Zfp457	C	A	13: 67,294,001	C170F	possibly damaging	Het
Zscan10	A	G	17: 23,607,029		probably null	Het

Other mutations in Sf3a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Sf3a3	APN	4	124718343	missense	possibly damaging	0.93
IGL01623:Sf3a3	APN	4	124718343	missense	possibly damaging	0.93
PIT4495001:Sf3a3	UTSW	4	124728320	missense	probably damaging	1.00
R0070:Sf3a3	UTSW	4	124714955	missense	probably benign	0.04
R1441:Sf3a3	UTSW	4	124725142	missense	probably damaging	0.99
R1858:Sf3a3	UTSW	4	124729495	missense	probably damaging	1.00
R1928:Sf3a3	UTSW	4	124722093	missense	possibly damaging	0.56
R1943:Sf3a3	UTSW	4	124715901	missense	possibly damaging	0.95
R2101:Sf3a3	UTSW	4	124718343	missense	possibly damaging	0.93
R2984:Sf3a3	UTSW	4	124718409	missense	probably damaging	1.00
R3434:Sf3a3	UTSW	4	124725077	missense	possibly damaging	0.95
R4366:Sf3a3	UTSW	4	124725139	missense	probably benign
R4711:Sf3a3	UTSW	4	124728181	missense	probably benign	0.01
R5032:Sf3a3	UTSW	4	124725166	missense	probably benign	0.17
R5464:Sf3a3	UTSW	4	124728240	critical splice donor site	probably null
R5607:Sf3a3	UTSW	4	124714953	missense	probably damaging	1.00
R5997:Sf3a3	UTSW	4	124722058	missense	probably damaging	0.99
R6166:Sf3a3	UTSW	4	124723384	intron	probably benign
R7030:Sf3a3	UTSW	4	124722880	missense	probably damaging	1.00
R7038:Sf3a3	UTSW	4	124728426	missense	probably benign	0.16
R7157:Sf3a3	UTSW	4	124722900	missense	probably damaging	0.98
R7250:Sf3a3	UTSW	4	124722915	missense	probably benign	0.03
R9212:Sf3a3	UTSW	4	124728128	missense	possibly damaging	0.67
Z1176:Sf3a3	UTSW	4	124714901	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AACTTTGGTGCAGCCGGATG -3'
(R):5'- CGCTTATTGGTTTAGGTCCCAG -3'

Sequencing Primer
(F):5'- ATGCTGCGCGCTGAGAC -3'
(R):5'- TTAGGTCCCAGGGGCTGAAG -3'

Posted On

2019-06-26