Mutagenetix > Incidental Mutations

Incidental Mutation 'R5607:Sf3a3'

439327

Institutional Source

Beutler Lab

Gene Symbol

Sf3a3

Ensembl Gene

ENSMUSG00000028902

Gene Name

splicing factor 3a, subunit 3

Synonyms

4930512K19Rik, 60kDa

MMRRC Submission

043271-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5607 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124714776-124732460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124714953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 20 (D20V)

Ref Sequence

ENSEMBL: ENSMUSP00000030734 (fasta)

Gene Model

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

AlphaFold

Q9D554

Predicted Effect

probably damaging
Transcript: ENSMUST00000030734
AA Change: D20V

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

SMART Domains

Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: D20V

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: ENSMUST00000154712

Meta Mutation Damage Score

0.5630

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

96% (54/56)

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
Adgrl1	G	T	8: 83,937,257	G1118W	probably damaging	Het
Ajap1	T	A	4: 153,432,204	T227S	possibly damaging	Het
Ankmy1	A	G	1: 92,877,018	F851S	probably damaging	Het
Blvrb	C	T	7: 27,459,469	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,857,522	M220I	possibly damaging	Het
Cacna1e	T	A	1: 154,471,340	N1027I	probably benign	Het
Cacng4	A	T	11: 107,734,784	V327E	probably damaging	Het
Casp1	T	C	9: 5,303,143	V199A	probably damaging	Het
Cdh13	A	T	8: 118,757,474	D158V	probably benign	Het
Cenpe	C	A	3: 135,235,076	S662*	probably null	Het
Ctnna1	A	G	18: 35,249,742	D647G	probably benign	Het
Dennd5a	C	A	7: 109,919,423	E480*	probably null	Het
Exoc6	T	A	19: 37,578,529	V258D	probably benign	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fmn2	G	A	1: 174,609,811	C1116Y	probably damaging	Het
H2-Aa	T	C	17: 34,283,842	T117A	possibly damaging	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,734,097		probably benign	Het
Lig1	C	A	7: 13,306,008	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,689,845		probably null	Het
Mcm6	T	C	1: 128,355,589	T60A	probably damaging	Het
Mex3c	T	A	18: 73,589,943	M369K	possibly damaging	Het
Mmp14	T	C	14: 54,439,412	Y428H	probably damaging	Het
Msh6	A	G	17: 87,986,901	D1028G	probably damaging	Het
Myo9a	T	C	9: 59,863,944	V933A	probably damaging	Het
Nepn	A	T	10: 52,401,137	D323V	probably benign	Het
Nrf1	C	T	6: 30,126,246	A150V	probably damaging	Het
Nxpe5	A	G	5: 138,239,771	T199A	probably benign	Het
Obscn	T	G	11: 59,122,848	K1150Q	probably benign	Het
Olfr1354	A	G	10: 78,917,099	I86M	possibly damaging	Het
Olfr536	A	C	7: 140,504,405	V18G	probably benign	Het
Olfr591	T	C	7: 103,172,849	T263A	probably damaging	Het
Olfr617	G	A	7: 103,584,299	W92*	probably null	Het
Olfr862	T	A	9: 19,883,976	M110L	probably benign	Het
Otop1	G	A	5: 38,294,504	G184S	possibly damaging	Het
Pkp2	G	T	16: 16,260,375	D494Y	probably damaging	Het
Pop5	G	A	5: 115,240,201	R68Q	probably damaging	Het
Ppp1r13b	T	C	12: 111,833,789	D518G	probably benign	Het
Preb	G	T	5: 30,959,963		probably benign	Het
Qrfpr	A	G	3: 36,180,965	V292A	possibly damaging	Het
Rag1	G	A	2: 101,643,792	T335I	probably damaging	Het
Rbbp6	T	A	7: 122,997,086	V617E	probably damaging	Het
Slco1b2	A	G	6: 141,685,586	N649D	probably benign	Het
Smarcal1	A	G	1: 72,586,213	D173G	probably benign	Het
Smg7	A	G	1: 152,843,234	L914P	probably damaging	Het
Tbc1d32	A	T	10: 56,129,150	S796T	possibly damaging	Het
Tex14	A	G	11: 87,522,578	T1052A	probably benign	Het
Tspan1	A	G	4: 116,164,080	V109A	possibly damaging	Het
Ttbk2	A	G	2: 120,806,824	V51A	possibly damaging	Het
Tubgcp6	A	G	15: 89,111,150	V419A	probably benign	Het
Ubr2	G	T	17: 46,934,200	C1633*	probably null	Het
Uggt2	C	T	14: 119,089,199	G200D	possibly damaging	Het
Vmn2r25	T	C	6: 123,828,359	E513G	possibly damaging	Het
Zscan22	G	A	7: 12,906,992	G388S	probably damaging	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
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'- AACTTTGGTGCAGCCGGATG -3'
(R):5'- TTAGCAGTTGGAAAGAGCACCC -3'

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

Posted On

2016-10-26