Mutagenetix > Incidental Mutation

Incidental Mutation 'R5032:Sf3a3'

391741

Institutional Source

Beutler Lab

Gene Symbol

Sf3a3

Ensembl Gene

ENSMUSG00000028902

Gene Name

splicing factor 3a, subunit 3

Synonyms

4930512K19Rik, 60kDa

MMRRC Submission

042623-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5032 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

124608569-124626253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124618959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 307 (S307P)

Ref Sequence

ENSEMBL: ENSMUSP00000030734 (fasta)

Gene Model

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

AlphaFold

Q9D554

Predicted Effect

probably benign
Transcript: ENSMUST00000030734
AA Change: S307P

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: S307P

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: ENSMUST00000151049

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

97% (77/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Actl9	A	G	17: 33,653,062 (GRCm39)	N374S	probably benign	Het
Adam34l	T	C	8: 44,079,508 (GRCm39)	N239D	probably damaging	Het
Ahcyl2	T	A	6: 29,768,555 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,720,464 (GRCm39)	M1501T	probably benign	Het
Asb17	A	T	3: 153,550,175 (GRCm39)	D69V	probably damaging	Het
Atp13a5	T	C	16: 29,082,202 (GRCm39)	Y877C	probably damaging	Het
Atrip	T	C	9: 108,894,271 (GRCm39)	Q64R	probably benign	Het
Auts2	A	G	5: 131,505,730 (GRCm39)		probably benign	Het
Cacna2d1	G	T	5: 16,564,068 (GRCm39)	R893L	probably damaging	Het
Ccdc138	C	T	10: 58,409,458 (GRCm39)	R596C	probably damaging	Het
Cd163	A	G	6: 124,288,628 (GRCm39)	Y353C	probably damaging	Het
Cdon	T	C	9: 35,400,330 (GRCm39)	Y1015H	probably damaging	Het
Chsy3	T	C	18: 59,312,543 (GRCm39)	Y339H	probably damaging	Het
Cspp1	T	C	1: 10,136,744 (GRCm39)	W190R	probably benign	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Duox1	G	A	2: 122,167,798 (GRCm39)	R1027H	probably benign	Het
Dync1h1	C	T	12: 110,593,326 (GRCm39)	Q1198*	probably null	Het
Ecel1	G	A	1: 87,081,975 (GRCm39)	S246L	probably damaging	Het
Fam228b	T	G	12: 4,813,042 (GRCm39)	R109S	probably damaging	Het
Fut9	T	A	4: 25,799,245 (GRCm39)		probably benign	Het
Gm5592	A	G	7: 40,939,159 (GRCm39)	R814G	probably damaging	Het
Gmps	A	G	3: 63,897,746 (GRCm39)	K233E	probably benign	Het
Gramd1c	A	G	16: 43,811,026 (GRCm39)	Y438H	probably damaging	Het
Gsdmc	A	T	15: 63,673,882 (GRCm39)	D134E	possibly damaging	Het
Gxylt2	A	G	6: 100,760,142 (GRCm39)	I226V	probably benign	Het
Hc	T	C	2: 34,903,544 (GRCm39)	I1037V	probably benign	Het
Hspa4	T	G	11: 53,179,950 (GRCm39)	R69S	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Kifc3	A	G	8: 95,829,354 (GRCm39)	S508P	probably damaging	Het
Krt7	G	A	15: 101,310,428 (GRCm39)	R25H	probably benign	Het
Lhfpl6	T	A	3: 52,950,854 (GRCm39)	S43T	possibly damaging	Het
Lrrc7	T	A	3: 157,887,217 (GRCm39)	K394N	possibly damaging	Het
Lypd4	A	T	7: 24,566,240 (GRCm39)	L28Q	probably damaging	Het
Mdc1	A	G	17: 36,161,481 (GRCm39)	E798G	probably benign	Het
Mta1	T	A	12: 113,097,145 (GRCm39)		probably null	Het
Mtg2	A	T	2: 179,725,183 (GRCm39)	Q132L	possibly damaging	Het
Myh1	G	T	11: 67,096,874 (GRCm39)	E382*	probably null	Het
Myo3a	T	C	2: 22,287,413 (GRCm39)	L175P	probably damaging	Het
Nckap5	A	T	1: 125,904,786 (GRCm39)	F144L	possibly damaging	Het
Nfrkb	T	A	9: 31,300,351 (GRCm39)		probably null	Het
Nmt2	C	T	2: 3,285,429 (GRCm39)	P5L	probably benign	Het
Nsmf	T	C	2: 24,945,073 (GRCm39)		probably null	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or5a1	T	A	19: 12,097,420 (GRCm39)	I219F	probably benign	Het
Pcdhgc3	T	A	18: 37,940,638 (GRCm39)	N346K	probably damaging	Het
Pcnt	G	A	10: 76,190,911 (GRCm39)	P2791S	probably benign	Het
Pdia3	A	G	2: 121,244,620 (GRCm39)	N11S	probably benign	Het
Pik3c2g	A	T	6: 139,841,928 (GRCm39)	T778S	probably benign	Het
Pik3ip1	T	A	11: 3,283,520 (GRCm39)	I75N	probably damaging	Het
Pla2g4d	A	T	2: 120,112,176 (GRCm39)	Y118*	probably null	Het
Ppargc1b	A	G	18: 61,440,336 (GRCm39)	S845P	probably damaging	Het
Prdm2	A	T	4: 142,905,937 (GRCm39)	L50*	probably null	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,053,140 (GRCm39)	V926I	probably benign	Het
Rab11fip2	A	T	19: 59,925,799 (GRCm39)	N139K	probably damaging	Het
Rcn2	T	A	9: 55,960,300 (GRCm39)	M189K	probably damaging	Het
Rev1	A	T	1: 38,113,570 (GRCm39)		probably benign	Het
Rhbg	C	A	3: 88,152,441 (GRCm39)	G368C	probably damaging	Het
Rnf214	A	G	9: 45,811,042 (GRCm39)		probably null	Het
Slc6a18	T	A	13: 73,814,442 (GRCm39)	Y494F	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag16	T	G	1: 69,892,511 (GRCm39)	N97K	probably benign	Het
Tmem192	T	C	8: 65,412,163 (GRCm39)	V114A	possibly damaging	Het
Urb1	G	T	16: 90,553,059 (GRCm39)	P1901T	probably benign	Het
Vwa5b2	A	G	16: 20,419,459 (GRCm39)	T601A	probably damaging	Het
Wdtc1	G	T	4: 133,036,162 (GRCm39)	T126K	possibly damaging	Het
Xirp2	T	C	2: 67,356,014 (GRCm39)	Y3592H	possibly damaging	Het
Xylt2	A	T	11: 94,560,842 (GRCm39)	V232E	probably damaging	Het

Other mutations in Sf3a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Sf3a3	APN	4	124,612,136 (GRCm39)	missense	possibly damaging	0.93
IGL01623:Sf3a3	APN	4	124,612,136 (GRCm39)	missense	possibly damaging	0.93
PIT4495001:Sf3a3	UTSW	4	124,622,113 (GRCm39)	missense	probably damaging	1.00
R0070:Sf3a3	UTSW	4	124,608,748 (GRCm39)	missense	probably benign	0.04
R1441:Sf3a3	UTSW	4	124,618,935 (GRCm39)	missense	probably damaging	0.99
R1858:Sf3a3	UTSW	4	124,623,288 (GRCm39)	missense	probably damaging	1.00
R1928:Sf3a3	UTSW	4	124,615,886 (GRCm39)	missense	possibly damaging	0.56
R1943:Sf3a3	UTSW	4	124,609,694 (GRCm39)	missense	possibly damaging	0.95
R2101:Sf3a3	UTSW	4	124,612,136 (GRCm39)	missense	possibly damaging	0.93
R2984:Sf3a3	UTSW	4	124,612,202 (GRCm39)	missense	probably damaging	1.00
R3434:Sf3a3	UTSW	4	124,618,870 (GRCm39)	missense	possibly damaging	0.95
R4366:Sf3a3	UTSW	4	124,618,932 (GRCm39)	missense	probably benign
R4711:Sf3a3	UTSW	4	124,621,974 (GRCm39)	missense	probably benign	0.01
R5464:Sf3a3	UTSW	4	124,622,033 (GRCm39)	critical splice donor site	probably null
R5607:Sf3a3	UTSW	4	124,608,746 (GRCm39)	missense	probably damaging	1.00
R5997:Sf3a3	UTSW	4	124,615,851 (GRCm39)	missense	probably damaging	0.99
R6166:Sf3a3	UTSW	4	124,617,177 (GRCm39)	intron	probably benign
R7030:Sf3a3	UTSW	4	124,616,673 (GRCm39)	missense	probably damaging	1.00
R7038:Sf3a3	UTSW	4	124,622,219 (GRCm39)	missense	probably benign	0.16
R7157:Sf3a3	UTSW	4	124,616,693 (GRCm39)	missense	probably damaging	0.98
R7184:Sf3a3	UTSW	4	124,608,772 (GRCm39)	missense	probably benign	0.10
R7250:Sf3a3	UTSW	4	124,616,708 (GRCm39)	missense	probably benign	0.03
R9212:Sf3a3	UTSW	4	124,621,921 (GRCm39)	missense	possibly damaging	0.67
Z1176:Sf3a3	UTSW	4	124,608,694 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGATTGCCCCAAACTGTCAAAATC -3'
(R):5'- GAGGTAAAAGGGTCACTGCC -3'

Sequencing Primer
(F):5'- GGTGAATGCCTTTAACCCCAG -3'
(R):5'- AGGGTCACTGCCAAGGG -3'

Posted On

2016-06-06