Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Sf3a1'

620428

Institutional Source

Beutler Lab

Gene Symbol

Sf3a1

Ensembl Gene

ENSMUSG00000002129

Gene Name

splicing factor 3a, subunit 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4160350-4182541 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4175435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 408 (Y408*)

Ref Sequence

ENSEMBL: ENSMUSP00000002198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002198]

AlphaFold

Q8K4Z5

PDB Structure

Solution structure of Ubiquitin-like domain in SF3a120 [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000002198
AA Change: Y408*

SMART Domains

Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: Y408*

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
SWAP	50	103	4.99e-30	SMART
low complexity region	118	138	N/A	INTRINSIC
SWAP	164	217	3.22e-24	SMART
Pfam:PRP21_like_P	227	469	7e-81	PFAM
low complexity region	552	560	N/A	INTRINSIC
low complexity region	574	589	N/A	INTRINSIC
low complexity region	624	673	N/A	INTRINSIC
UBQ	713	784	6.52e-18	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,938,494	I1380L	probably benign	Het
Adcy3	T	C	12: 4,134,420	V32A	probably benign	Het
Ano3	T	A	2: 110,950,232		probably benign	Het
Arhgef12	G	A	9: 42,971,103	R1482*	probably null	Het
Cd300lg	T	G	11: 102,041,601	L4R	probably damaging	Het
Cfap57	T	A	4: 118,569,625	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,462,483	M132I	probably benign	Het
Clec18a	T	G	8: 111,071,598	D489A	probably damaging	Het
Cngb1	A	G	8: 95,252,173	S551P		Het
Efna4	G	A	3: 89,335,326	T87M	probably benign	Het
Fam229b	T	C	10: 39,120,259	R42G	probably null	Het
Gm17175	C	T	14: 51,571,623	M95I	probably damaging	Het
Grk4	A	G	5: 34,676,138	E96G	probably benign	Het
Helb	A	C	10: 120,089,416	F1019V	probably benign	Het
Hsd17b2	T	C	8: 117,758,701	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,631,529	F342L	probably benign	Het
Idua	C	A	5: 108,680,575	A265E	possibly damaging	Het
Jup	T	G	11: 100,386,287	T32P	probably damaging	Het
Kidins220	A	G	12: 25,057,716	K1632E	probably benign	Het
Lef1	G	A	3: 131,204,305		probably null	Het
Lypla2	A	G	4: 135,969,801		probably null	Het
Mall	A	G	2: 127,729,865	M1T	probably null	Het
Mettl25	G	T	10: 105,826,080	A343E	probably benign	Het
Mpdz	T	C	4: 81,349,087	N940S	probably benign	Het
Nsun4	A	T	4: 116,051,434	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,624,937	F70Y	possibly damaging	Het
Olfr1047	C	G	2: 86,228,129	V281L	possibly damaging	Het
Olfr202	A	G	16: 59,284,186	F104L	probably benign	Het
Olfr23	T	A	11: 73,940,387	V47D	possibly damaging	Het
Olfr548-ps1	A	G	7: 102,542,623	H229R	probably benign	Het
Olfr671	A	T	7: 104,975,727	I90N	probably damaging	Het
Olfr951	A	T	9: 39,393,946	I49F	probably damaging	Het
Pabpc4	A	T	4: 123,286,715	M77L	probably benign	Het
Phactr3	A	G	2: 178,302,796	E429G	probably damaging	Het
Polr3b	A	G	10: 84,713,659	D915G	probably damaging	Het
Pramef17	A	T	4: 143,991,854	F340I	probably benign	Het
Prkcg	T	A	7: 3,323,521	M501K	probably damaging	Het
Prkch	G	A	12: 73,700,267	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,927,661	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,557,436	D373E	probably damaging	Het
Scfd2	G	T	5: 74,519,596	Q299K	probably benign	Het
Sept2	A	G	1: 93,505,561	D315G	probably benign	Het
Siglecf	A	T	7: 43,351,790	N61Y	possibly damaging	Het
Sis	A	T	3: 72,917,198	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,344,884	T307S	possibly damaging	Het
Spag9	T	A	11: 94,112,051	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,675,011	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,622,016	K12T	probably damaging	Het
Stam2	A	T	2: 52,706,426	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,138,979		probably null	Het
Tmem121b	T	C	6: 120,492,908	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,992,952	E473G	probably damaging	Het
Tnxb	T	A	17: 34,703,981	S2513T	probably benign	Het
Ttc16	A	T	2: 32,774,123		probably benign	Het
Ttll8	C	T	15: 88,915,375	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,440,540	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,335,945	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,547,643		probably benign	Het
Vwa3a	A	T	7: 120,799,098	I941L	probably benign	Het
Zbtb24	A	G	10: 41,451,232	D38G	probably damaging	Het
Zfp628	T	C	7: 4,920,206	C476R	probably damaging	Het
Zfp831	A	C	2: 174,644,735	N401T	possibly damaging	Het

Other mutations in Sf3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01899:Sf3a1	APN	11	4171063	missense	probably damaging	1.00
IGL02883:Sf3a1	APN	11	4179192	missense	probably damaging	1.00
IGL03061:Sf3a1	APN	11	4175493	missense	probably damaging	1.00
R1469:Sf3a1	UTSW	11	4175380	splice site	probably benign
R1561:Sf3a1	UTSW	11	4179217	missense	probably benign
R1905:Sf3a1	UTSW	11	4176678	missense	probably benign	0.01
R1993:Sf3a1	UTSW	11	4179177	missense	possibly damaging	0.51
R2264:Sf3a1	UTSW	11	4177443	missense	probably benign	0.28
R3935:Sf3a1	UTSW	11	4180024	splice site	probably null
R3936:Sf3a1	UTSW	11	4180024	splice site	probably null
R4065:Sf3a1	UTSW	11	4167824	missense	probably damaging	1.00
R4067:Sf3a1	UTSW	11	4167824	missense	probably damaging	1.00
R4245:Sf3a1	UTSW	11	4167774	missense	probably damaging	1.00
R5167:Sf3a1	UTSW	11	4177456	missense	possibly damaging	0.71
R5434:Sf3a1	UTSW	11	4174041	missense	probably damaging	1.00
R7471:Sf3a1	UTSW	11	4167724	missense	possibly damaging	0.94
R7506:Sf3a1	UTSW	11	4177561	missense	probably benign	0.02
R7943:Sf3a1	UTSW	11	4166537	missense	possibly damaging	0.46
R8039:Sf3a1	UTSW	11	4167787	missense	probably damaging	1.00
R8299:Sf3a1	UTSW	11	4179420	missense	possibly damaging	0.88
R8500:Sf3a1	UTSW	11	4175039	missense	probably benign	0.18
R9169:Sf3a1	UTSW	11	4166681	missense	probably benign	0.28
R9352:Sf3a1	UTSW	11	4160494	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAGGTGGCCCGTATGTTAC -3'
(R):5'- ACCGCAACCATTTTGTATCTG -3'

Sequencing Primer
(F):5'- CCGTATGTTACAGGCCTCATGG -3'
(R):5'- TATCTGCATAAAAGAAGCTACAGGC -3'

Posted On

2020-01-23