Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01623:Sf3a3'

278662

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01623

Quality Score

Status

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	G	A	14: 35,810,067	Q184*	probably null	Het
A1bg	A	C	15: 60,917,893	I502S	possibly damaging	Het
Actl11	T	C	9: 107,928,576	S33P	probably benign	Het
Aftph	G	T	11: 20,709,632	D730E	probably damaging	Het
Arhgap29	A	G	3: 121,974,124		probably benign	Het
Brf1	T	G	12: 112,961,175	E643A	probably benign	Het
Caskin1	G	T	17: 24,503,940		probably null	Het
Ccnjl	T	C	11: 43,585,327	V259A	probably benign	Het
Ccser2	G	T	14: 36,940,963	T88K	probably benign	Het
Cdk17	T	C	10: 93,238,962		probably benign	Het
Clec16a	G	A	16: 10,577,910	S309N	possibly damaging	Het
Cpxm1	C	A	2: 130,391,271	A633S	probably benign	Het
Ctnnbl1	A	T	2: 157,819,548	N326I	probably damaging	Het
Cyp46a1	T	C	12: 108,351,975	V215A	possibly damaging	Het
Dnah6	T	C	6: 73,144,718	Y1427C	probably damaging	Het
Dpy19l3	G	A	7: 35,722,744	T228I	probably damaging	Het
Fam131c	C	T	4: 141,382,450	A131V	possibly damaging	Het
Fam71e2	A	G	7: 4,758,723	V330A	probably benign	Het
Fat1	A	G	8: 45,029,555	T3061A	possibly damaging	Het
Fgl2	T	A	5: 21,373,177	L154H	possibly damaging	Het
Fhod3	T	A	18: 25,022,867	I514K	probably benign	Het
Frem3	A	G	8: 80,613,915	T946A	probably benign	Het
Gan	T	A	8: 117,187,178	V105D	probably damaging	Het
Gm28043	T	C	17: 29,676,248	F134L	probably benign	Het
Gramd1c	A	G	16: 43,990,698	V221A	probably damaging	Het
Hacd1	A	G	2: 14,035,856	V196A	probably benign	Het
Kcna6	C	A	6: 126,738,613	V438L	probably damaging	Het
Klhl41	T	C	2: 69,678,238	V512A	probably benign	Het
Lrfn1	A	G	7: 28,466,686	T502A	probably damaging	Het
Notch3	A	T	17: 32,158,870	F105I	possibly damaging	Het
Olfr1023	A	T	2: 85,886,962	H54L	probably benign	Het
Olfr142	T	G	2: 90,252,609	K126N	probably damaging	Het
P3h1	C	T	4: 119,235,283	T171I	probably damaging	Het
Pcdhb1	A	G	18: 37,266,313	E439G	possibly damaging	Het
Pik3c3	A	T	18: 30,290,525	K225*	probably null	Het
Pik3c3	A	G	18: 30,293,049		probably benign	Het
Pik3r5	T	A	11: 68,486,626		probably null	Het
Pnpt1	A	C	11: 29,148,272		probably benign	Het
Ppp2r1b	T	A	9: 50,878,122	V495D	probably damaging	Het
Rbfox3	C	A	11: 118,505,614		probably benign	Het
Sec14l2	G	A	11: 4,103,966	P234S	possibly damaging	Het
Sec16a	A	C	2: 26,438,903	D1033E	probably benign	Het
Sept14	A	G	5: 129,685,955	V357A	probably damaging	Het
Setx	T	C	2: 29,163,009	V2095A	possibly damaging	Het
Snrpa	A	T	7: 27,192,970	M55K	probably benign	Het
Swt1	G	T	1: 151,411,009	T244N	probably benign	Het
Tbl1xr1	A	G	3: 22,192,074	T253A	probably benign	Het
Tst	G	T	15: 78,399,764	R288S	probably benign	Het
Vmn2r60	A	G	7: 42,136,486	I238V	probably benign	Het
Zbtb14	A	G	17: 69,388,189	K294R	probably benign	Het
Zfp710	T	A	7: 80,081,123	V16E	probably damaging	Het
Zfpm2	A	G	15: 41,101,924	T602A	probably benign	Het
Zfr2	G	A	10: 81,251,359	M850I	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
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
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

Posted On

2015-04-16