Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4495001:Sf3a3'

555952

Institutional Source

Beutler Lab

Gene Symbol

Sf3a3

Ensembl Gene

ENSMUSG00000028902

Gene Name

splicing factor 3a, subunit 3

Synonyms

4930512K19Rik, 60kDa

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

PIT4495001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124714776-124732460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124728320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 391 (P391L)

Ref Sequence

ENSEMBL: ENSMUSP00000030734 (fasta)

Gene Model

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

AlphaFold

Q9D554

Predicted Effect

probably damaging
Transcript: ENSMUST00000030734
AA Change: P391L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: P391L

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: 93.1%
3x: 90.6%
10x: 84.0%
20x: 69.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	A	T	10: 100,583,950	F90I	probably damaging	Het
Abl2	T	A	1: 156,633,185	V384D	probably damaging	Het
Adamts7	A	G	9: 90,174,622	E248G	probably damaging	Het
Aff1	A	G	5: 103,849,525	T1162A	probably benign	Het
Ank3	C	A	10: 69,993,072	H2524N		Het
Cct7	T	A	6: 85,459,961	N60K	probably damaging	Het
Cfap43	A	C	19: 47,897,302	C291W	probably damaging	Het
Cobl	G	A	11: 12,254,596	T702I	probably benign	Het
Col5a1	C	A	2: 28,024,776	Q1624K	unknown	Het
Cubn	T	A	2: 13,491,750	T22S	probably benign	Het
Def8	A	C	8: 123,459,553	M344L	probably benign	Het
Fzd7	A	G	1: 59,484,307	T450A	probably benign	Het
Gm11214	G	A	4: 63,662,685	L76F	probably benign	Het
Gm14548	A	T	7: 3,897,458	C98S	probably damaging	Het
Gm5797	T	C	14: 7,329,530	T153A	probably benign	Het
Gsk3a	A	C	7: 25,235,639	S129A	probably damaging	Het
Intu	A	G	3: 40,697,603	Q830R	probably benign	Het
Kcnma1	C	T	14: 23,425,597	V750I	probably benign	Het
Mlh1	T	A	9: 111,247,260	Y343F	probably benign	Het
Myb	C	T	10: 21,152,622	R114H	probably damaging	Het
Neb	A	T	2: 52,212,736	D4508E	probably benign	Het
Nell2	T	C	15: 95,383,727	D366G	probably benign	Het
Olfr1354	T	C	10: 78,916,987	V49A	probably benign	Het
Olfr1428	A	G	19: 12,108,712	I52T	possibly damaging	Het
Olfr196	G	T	16: 59,167,974	H56Q	possibly damaging	Het
Olfr209	A	C	16: 59,361,508	F237V	probably damaging	Het
Olfr98	A	C	17: 37,262,830	V278G	possibly damaging	Het
Pcdhgc5	C	T	18: 37,820,977	H435Y	possibly damaging	Het
Pnpla7	T	A	2: 25,042,139	D935E	probably damaging	Het
Pole	A	G	5: 110,303,914	E874G	probably damaging	Het
Psd3	A	C	8: 67,963,913	I158R	probably benign	Het
Pzp	C	A	6: 128,502,229	V654L	probably benign	Het
Rabep1	A	G	11: 70,917,579	T454A	probably damaging	Het
Rad54l2	C	A	9: 106,716,144	S419I	probably benign	Het
Rin3	A	G	12: 102,369,036	D402G	probably benign	Het
Ripk4	T	C	16: 97,743,170	H759R	probably damaging	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,752,966		probably benign	Het
Snx9	T	A	17: 5,920,126	I379K	possibly damaging	Het
Svs1	A	T	6: 48,987,776	E239D	possibly damaging	Het
Syt5	A	C	7: 4,541,078		probably null	Het
Tex47	A	G	5: 7,305,011	D64G	probably benign	Het
Zbbx	C	A	3: 75,061,637	W509L	probably damaging	Het
Zer1	T	C	2: 30,103,543	K551R	probably benign	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
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
R7184:Sf3a3	UTSW	4	124714979	missense	probably benign	0.10
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'- CATGAAAATGTTCAGCGCAAG -3'
(R):5'- TTCAGCTCTGGACACCAATGG -3'

Sequencing Primer
(F):5'- CGCAAGCAAGCCAGGACAG -3'
(R):5'- CCAATGGCCCTCACAGG -3'

Posted On

2019-06-07