Mutagenetix > Incidental Mutations

Incidental Mutation 'R2101:Sf3a3'

230489

Institutional Source

Beutler Lab

Gene Symbol

Sf3a3

Ensembl Gene

ENSMUSG00000028902

Gene Name

splicing factor 3a, subunit 3

Synonyms

4930512K19Rik, 60kDa

MMRRC Submission

040105-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R2101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124714776-124732460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124718343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 131 (T131I)

Ref Sequence

ENSEMBL: ENSMUSP00000030734 (fasta)

Gene Model

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

AlphaFold

Q9D554

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030734
AA Change: T131I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: T131I

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

0.1358

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	A	2: 103,566,862	A46T	probably benign	Het
Agap3	T	A	5: 24,487,799	L47Q	probably damaging	Het
Apaf1	T	G	10: 91,060,080	I377L	probably benign	Het
Astn2	G	A	4: 65,581,686	R937*	probably null	Het
Cacnb1	A	C	11: 98,005,728	V369G	probably damaging	Het
Cdc42bpa	G	T	1: 180,146,968	V1464L	probably benign	Het
Cdkn2aip	A	T	8: 47,713,001	M90K	probably damaging	Het
Chd3	A	T	11: 69,349,051	D1650E	probably benign	Het
Chd9	C	T	8: 91,033,987	P2120L	probably benign	Het
Clca2	T	C	3: 145,077,938	T639A	probably damaging	Het
Cluh	G	T	11: 74,660,502		probably benign	Het
Cnga1	C	T	5: 72,619,061	V20I	possibly damaging	Het
Col11a2	A	T	17: 34,052,169	D528V	probably damaging	Het
Cyfip2	A	G	11: 46,242,443	L810P	probably damaging	Het
D430041D05Rik	A	G	2: 104,148,830	V2084A	probably damaging	Het
Dcc	G	A	18: 71,810,870	H237Y	possibly damaging	Het
Ddx60	T	A	8: 61,940,645	F38L	probably damaging	Het
Dio2	T	C	12: 90,729,823	*130W	probably null	Het
Dock5	G	T	14: 67,794,010	F990L	probably benign	Het
Dpy19l1	A	T	9: 24,482,035	V146E	probably damaging	Het
Dscam	T	C	16: 96,610,349	T1776A	probably benign	Het
Enpep	C	T	3: 129,298,938	S532N	probably benign	Het
Gdf6	A	G	4: 9,860,025	D369G	probably damaging	Het
Gm6169	G	T	13: 97,099,222	R6S	probably damaging	Het
Gtf2b	T	C	3: 142,771,383		probably benign	Het
Hmbox1	A	G	14: 64,828,579		probably benign	Het
Hps3	C	A	3: 20,012,783	V540F	possibly damaging	Het
Hsd3b6	T	A	3: 98,806,237	I249F	possibly damaging	Het
Hunk	T	A	16: 90,432,500		probably null	Het
Kidins220	T	A	12: 25,057,423	L1625Q	probably damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Myo10	T	A	15: 25,722,259	L186Q	probably benign	Het
N4bp2	T	A	5: 65,790,881	W285R	probably damaging	Het
Nat8l	T	C	5: 33,998,372	L124P	probably damaging	Het
Nemp2	T	C	1: 52,641,066		probably null	Het
Nkain2	G	A	10: 32,329,817	T74I	possibly damaging	Het
Nol4	A	G	18: 22,823,409	S239P	probably damaging	Het
Olfr1223	T	A	2: 89,144,957	E22V	probably benign	Het
Pcbp3	T	C	10: 76,789,755	I152V	possibly damaging	Het
Pcp4l1	G	T	1: 171,175,605	P10Q	probably damaging	Het
Pla1a	T	C	16: 38,415,368	N135D	probably damaging	Het
Plb1	T	A	5: 32,349,660	M1193K	probably damaging	Het
Prc1	T	C	7: 80,312,284	V73A	probably benign	Het
Prkd2	T	A	7: 16,869,565	W807R	probably damaging	Het
Ptprb	C	T	10: 116,315,038		probably benign	Het
Rb1cc1	A	G	1: 6,249,335	I993V	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rev3l	T	C	10: 39,828,096	V2046A	probably benign	Het
Rnpep	G	T	1: 135,271,617	N334K	probably damaging	Het
Sarm1	G	A	11: 78,475,289	P695S	probably damaging	Het
Slc38a10	A	T	11: 120,132,741	V283E	probably damaging	Het
Slco6c1	A	T	1: 97,072,870	L552*	probably null	Het
Tas2r136	T	C	6: 132,777,532	M211V	probably benign	Het
Tax1bp3	G	A	11: 73,181,121	D65N	probably damaging	Het
Tdrd5	A	G	1: 156,301,639	F167S	probably damaging	Het
Tfeb	G	A	17: 47,789,665	V269M	probably damaging	Het
Tspan12	A	T	6: 21,799,888	F153L	probably benign	Het
Txnrd1	T	G	10: 82,881,739	L186V	probably damaging	Het
Upk1b	A	T	16: 38,780,137	C160*	probably null	Het
Uty	T	C	Y: 1,176,541	Q172R	probably damaging	Het
Vmn1r23	T	C	6: 57,926,452	K114E	possibly damaging	Het
Vmn2r99	T	G	17: 19,377,991	N92K	probably damaging	Het
Vstm2a	T	A	11: 16,263,191	M192K	probably benign	Het
Zc3h12c	A	G	9: 52,116,421	V547A	probably benign	Het
Zfp944	T	A	17: 22,339,828	N146I	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
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
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'- GCTTAAAGTGAAAACCTACCTCTG -3'
(R):5'- TGAGCCATCTTACTAGCCCC -3'

Sequencing Primer
(F):5'- ACCTCTGTCATTTGATGAGAGCAGAG -3'
(R):5'- CCGACCCTGACTTTCTTTATAAATAG -3'

Posted On

2014-09-18