Mutagenetix > Incidental Mutation

Incidental Mutation 'R1858:Sf3a3'

206301

Institutional Source

Beutler Lab

Gene Symbol

Sf3a3

Ensembl Gene

ENSMUSG00000028902

Gene Name

splicing factor 3a, subunit 3

Synonyms

4930512K19Rik, 60kDa

MMRRC Submission

039882-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1858 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

124714776-124732460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124729495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 440 (I440F)

Ref Sequence

ENSEMBL: ENSMUSP00000030734 (fasta)

Gene Model

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

AlphaFold

Q9D554

Predicted Effect

probably damaging
Transcript: ENSMUST00000030734
AA Change: I440F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: I440F

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: ENSMUST00000102316

Meta Mutation Damage Score

0.9148

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.0%

Validation Efficiency

97% (112/116)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 11,974,953	A443E	unknown	Het
Acacb	A	T	5: 114,196,709	Y613F	probably benign	Het
Adam23	A	C	1: 63,557,456	I566L	probably benign	Het
Adar	G	T	3: 89,739,282	R338L	probably benign	Het
Akap14	C	T	X: 37,157,126	A476T	probably damaging	Het
Amotl1	T	A	9: 14,575,401	Q399L	probably benign	Het
Ankrd16	T	G	2: 11,778,596	L3R	probably benign	Het
Arfgap1	G	C	2: 180,974,088	G187R	probably damaging	Het
Arhgap19	A	T	19: 41,779,153	V399D	probably benign	Het
Arl4d	A	G	11: 101,666,752	T35A	probably damaging	Het
Atr	T	A	9: 95,865,097	I144N	probably damaging	Het
Bptf	A	G	11: 107,073,301	M1574T	probably benign	Het
Cacna1h	T	A	17: 25,380,807	D1684V	probably damaging	Het
Celsr1	C	A	15: 86,032,759	V338F	probably damaging	Het
Cep164	T	C	9: 45,823,640		probably benign	Het
Clock	C	A	5: 76,240,909	G390C	possibly damaging	Het
Col6a6	A	G	9: 105,781,102	F637S	probably damaging	Het
Crebrf	T	A	17: 26,742,963	Y345N	probably benign	Het
Cul1	A	G	6: 47,525,524		probably null	Het
Cyb5r4	C	T	9: 87,041,279	S185L	probably benign	Het
Cyp3a57	T	C	5: 145,381,249	Y347H	probably damaging	Het
Dgkq	G	T	5: 108,653,731	T487K	probably benign	Het
Dmkn	T	C	7: 30,764,565	V143A	probably benign	Het
Dmp1	A	T	5: 104,207,630	E32V	possibly damaging	Het
Dsc3	T	C	18: 19,965,716	D802G	probably damaging	Het
Dse	T	C	10: 34,153,229	T622A	probably benign	Het
Dusp27	T	C	1: 166,100,846	Y399C	possibly damaging	Het
Dyrk1b	A	T	7: 28,182,646		probably null	Het
Ehd2	T	C	7: 15,952,188	T320A	probably benign	Het
Eif3a	A	C	19: 60,782,197	L71V	probably damaging	Het
Eif4e1b	A	G	13: 54,787,278		probably null	Het
Fam131b	A	G	6: 42,318,980	F161L	probably damaging	Het
Fam171b	A	T	2: 83,853,381	M81L	probably benign	Het
Gal3st4	T	C	5: 138,270,788		probably null	Het
Gdf11	A	T	10: 128,886,446	V180E	probably damaging	Het
Gm4758	A	T	16: 36,308,087	I15F	probably damaging	Het
Gm4981	A	G	10: 58,235,780	V204A	probably benign	Het
Grin3a	T	A	4: 49,792,437	Y432F	probably benign	Het
Hif1a	C	A	12: 73,944,155	H708N	probably benign	Het
Hmcn2	G	T	2: 31,415,283		probably null	Het
Hrasls	G	A	16: 29,217,718	G36D	probably damaging	Het
Hs3st6	T	A	17: 24,757,999	M151K	possibly damaging	Het
Hyal2	T	A	9: 107,572,338	L431Q	probably benign	Het
Hyal6	A	T	6: 24,740,858	T337S	probably benign	Het
Igsf5	A	T	16: 96,386,629		probably null	Het
Kif13a	G	A	13: 46,864,838		probably benign	Het
Krtap19-3	G	A	16: 88,877,990		probably benign	Het
Lgalsl	T	C	11: 20,829,420	D75G	probably benign	Het
Lrrc56	A	G	7: 141,207,508	M353V	probably benign	Het
Ltbp2	T	A	12: 84,830,781	K337*	probably null	Het
Mdn1	C	T	4: 32,730,881	H2917Y	probably benign	Het
Medag	A	G	5: 149,429,794	I151M	probably damaging	Het
Meiob	T	C	17: 24,823,570	V124A	probably damaging	Het
Mmp3	A	G	9: 7,451,799	H379R	probably benign	Het
Mpg	A	G	11: 32,231,957		probably null	Het
Ncoa6	G	T	2: 155,421,639	Q292K	probably benign	Het
Ndufaf6	G	T	4: 11,053,474	H277Q	probably benign	Het
Nlrp4c	A	G	7: 6,084,656	I763V	probably benign	Het
Nlrp5	A	T	7: 23,418,161	I437F	probably damaging	Het
Noc2l	G	A	4: 156,245,270	R435Q	probably damaging	Het
Nova2	T	C	7: 18,958,401	I485T	probably damaging	Het
Nrxn2	G	A	19: 6,488,795	V794I	probably benign	Het
Nup210l	A	G	3: 90,154,499	T662A	probably damaging	Het
Olfr1014	T	C	2: 85,777,238	L218P	probably damaging	Het
Olfr1367	A	G	13: 21,347,176	M83V	possibly damaging	Het
Olfr1368	A	T	13: 21,142,394	I221N	probably damaging	Het
Olfr1370	A	T	13: 21,072,471	F277I	probably damaging	Het
Olfr606	G	A	7: 103,452,125	V263I	probably benign	Het
Olfr612	G	A	7: 103,538,652	T194I	probably damaging	Het
Olfr78	A	C	7: 102,742,364	I213S	probably damaging	Het
Pelp1	G	A	11: 70,394,742	P767S	probably damaging	Het
Pfdn1	C	A	18: 36,451,100	M60I	probably benign	Het
Plcxd3	T	A	15: 4,516,611		probably benign	Het
Plekhg1	C	A	10: 3,945,917	D436E	possibly damaging	Het
Ppfibp1	G	A	6: 146,990,592	V117I	probably benign	Het
Prss44	A	G	9: 110,814,109	K24R	probably benign	Het
Ptger1	G	T	8: 83,668,478	G195W	probably benign	Het
Ptgs1	A	C	2: 36,242,770	D260A	probably benign	Het
Ptprd	T	A	4: 75,947,147	T1198S	probably damaging	Het
Qsox2	A	G	2: 26,214,062	S319P	probably damaging	Het
Rab35	A	G	5: 115,640,088	I38V	probably damaging	Het
Rapgef4	A	G	2: 72,031,064	I33V	possibly damaging	Het
Rbbp8nl	C	T	2: 180,282,213		probably benign	Het
Riok1	A	T	13: 38,058,718	K473*	probably null	Het
Rtca	C	T	3: 116,494,115	G288S	probably benign	Het
Sag	A	T	1: 87,814,848	D114V	probably benign	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sec61g	A	G	11: 16,506,371		probably null	Het
Sgta	T	C	10: 81,048,861	K205E	possibly damaging	Het
Slc36a4	A	G	9: 15,720,710	T61A	probably damaging	Het
Slc5a4a	T	C	10: 76,166,735	S242P	probably benign	Het
Srgap3	A	T	6: 112,771,518	L391Q	probably damaging	Het
Stard13	T	C	5: 151,095,438	Y60C	probably damaging	Het
Syt12	G	T	19: 4,447,797	H386N	probably damaging	Het
Thyn1	T	A	9: 27,003,774	M74K	probably benign	Het
Tmem130	C	A	5: 144,752,283		probably null	Het
Trim71	A	G	9: 114,562,948	V57A	possibly damaging	Het
Twf1	T	C	15: 94,585,547		probably benign	Het
Tyro3	T	A	2: 119,801,695	I81N	possibly damaging	Het
Unc13a	A	T	8: 71,652,399	C740S	probably damaging	Het
Vmn1r15	A	T	6: 57,258,631	K161N	probably benign	Het
Vmn1r16	A	T	6: 57,322,899	I246N	probably damaging	Het
Vmn1r42	A	G	6: 89,844,615	I324T	probably benign	Het
Vmn2r35	T	C	7: 7,816,806	Y155C	possibly damaging	Het
Wif1	T	A	10: 121,083,883		probably null	Het
Wscd2	G	A	5: 113,551,170	R79Q	possibly damaging	Het
Zan	G	T	5: 137,405,877		probably benign	Het
Zfp9	G	T	6: 118,465,060	H214N	probably benign	Het
Zfp985	A	T	4: 147,582,858	Y61F	probably benign	Het
Zscan30	A	G	18: 23,971,467		noncoding transcript	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
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'- CCTGAGATAGTGCAGCACTG -3'
(R):5'- TCAGTACTGTTGACTTGCTCGC -3'

Sequencing Primer
(F):5'- CAGTGTCGGCCTGTGTCAG -3'
(R):5'- GCAGTAATTATATGTGTGCCTTAGC -3'

Posted On

2014-06-23