Mutagenetix > Incidental Mutation

Incidental Mutation 'R1561:Sf3a1'

170620

Institutional Source

Beutler Lab

Gene Symbol

Sf3a1

Ensembl Gene

ENSMUSG00000002129

Gene Name

splicing factor 3a, subunit 1

Synonyms

1200014H24Rik, 5930416L09Rik

MMRRC Submission

039600-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4110354-4132541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4129217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 726 (V726A)

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 benign
Transcript: ENSMUST00000002198
AA Change: V726A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: V726A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133095

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,184,431 (GRCm39)	N69D	probably benign	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Ap1g2	T	C	14: 55,342,344 (GRCm39)	E171G	probably damaging	Het
Atg7	T	C	6: 114,678,133 (GRCm39)	V341A	possibly damaging	Het
Bace1	G	T	9: 45,750,492 (GRCm39)	R56L	probably benign	Het
Cd200l1	A	G	16: 45,262,875 (GRCm39)	V88A	possibly damaging	Het
Chfr	A	T	5: 110,306,674 (GRCm39)	D472V	probably benign	Het
Ckap2l	G	A	2: 129,112,645 (GRCm39)	T621I	probably benign	Het
Cmip	A	G	8: 118,180,589 (GRCm39)	T554A	probably benign	Het
Crocc	C	T	4: 140,757,579 (GRCm39)	E905K	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
F5	C	A	1: 164,014,472 (GRCm39)	S581*	probably null	Het
Fam227a	T	A	15: 79,520,963 (GRCm39)	Y291F	possibly damaging	Het
Gpr151	A	T	18: 42,712,221 (GRCm39)	S152R	probably benign	Het
Gpr158	A	T	2: 21,820,505 (GRCm39)		probably null	Het
Kcna5	T	C	6: 126,511,546 (GRCm39)	Y194C	probably damaging	Het
Khsrp	A	G	17: 57,332,639 (GRCm39)	S214P	probably benign	Het
Mrgprb1	C	G	7: 48,096,873 (GRCm39)		probably null	Het
Mrnip	C	T	11: 50,067,676 (GRCm39)	T30I	probably damaging	Het
Mtus2	A	C	5: 148,013,362 (GRCm39)	K52Q	probably benign	Het
Naca	G	T	10: 127,876,267 (GRCm39)		probably benign	Het
Obscn	T	G	11: 58,926,899 (GRCm39)	T5539P	probably damaging	Het
Or13p3	T	A	4: 118,566,751 (GRCm39)	I49N	probably damaging	Het
Or9m1	C	T	2: 87,733,505 (GRCm39)	V172I	probably benign	Het
Ovca2	A	G	11: 75,068,805 (GRCm39)	L198P	probably damaging	Het
Pdzrn4	T	C	15: 92,575,518 (GRCm39)	V308A	possibly damaging	Het
Pkd1l3	A	G	8: 110,341,445 (GRCm39)	I99M	unknown	Het
Polr3b	T	A	10: 84,470,776 (GRCm39)	M139K	probably damaging	Het
Prkag2	T	C	5: 25,076,593 (GRCm39)	Y191C	probably damaging	Het
Prss47	A	T	13: 65,194,062 (GRCm39)	C278S	probably damaging	Het
Ptprm	T	C	17: 67,247,536 (GRCm39)	T600A	probably damaging	Het
Ruvbl1	T	C	6: 88,456,136 (GRCm39)	V70A	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc26a3	A	G	12: 31,516,451 (GRCm39)	N603S	probably benign	Het
Slc2a1	A	G	4: 118,993,606 (GRCm39)	E481G	possibly damaging	Het
Slc35a5	A	C	16: 44,971,884 (GRCm39)	S127A	possibly damaging	Het
Spen	C	A	4: 141,199,694 (GRCm39)	G2978*	probably null	Het
Srrt	T	A	5: 137,298,281 (GRCm39)	E297V	probably benign	Het
Srsf4	T	A	4: 131,625,006 (GRCm39)	D134E	probably damaging	Het
Tdrd6	G	A	17: 43,936,515 (GRCm39)	S1511L	probably damaging	Het
Tmem65	T	A	15: 58,694,707 (GRCm39)	I91F	probably benign	Het
Top2b	A	G	14: 16,398,993 (GRCm38)	K538E	possibly damaging	Het
Trappc8	G	A	18: 20,974,680 (GRCm39)	R883*	probably null	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Vav3	T	C	3: 109,402,154 (GRCm39)		probably null	Het
Vmn1r42	C	T	6: 89,822,363 (GRCm39)	G69S	probably damaging	Het
Zan	A	T	5: 137,379,100 (GRCm39)	Y5333*	probably null	Het
Zfp994	A	C	17: 22,420,206 (GRCm39)	F248V	probably damaging	Het

Other mutations in Sf3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01899:Sf3a1	APN	11	4,121,063 (GRCm39)	missense	probably damaging	1.00
IGL02883:Sf3a1	APN	11	4,129,192 (GRCm39)	missense	probably damaging	1.00
IGL03061:Sf3a1	APN	11	4,125,493 (GRCm39)	missense	probably damaging	1.00
R1469:Sf3a1	UTSW	11	4,125,380 (GRCm39)	splice site	probably benign
R1905:Sf3a1	UTSW	11	4,126,678 (GRCm39)	missense	probably benign	0.01
R1993:Sf3a1	UTSW	11	4,129,177 (GRCm39)	missense	possibly damaging	0.51
R2264:Sf3a1	UTSW	11	4,127,443 (GRCm39)	missense	probably benign	0.28
R3935:Sf3a1	UTSW	11	4,130,024 (GRCm39)	splice site	probably null
R3936:Sf3a1	UTSW	11	4,130,024 (GRCm39)	splice site	probably null
R4065:Sf3a1	UTSW	11	4,117,824 (GRCm39)	missense	probably damaging	1.00
R4067:Sf3a1	UTSW	11	4,117,824 (GRCm39)	missense	probably damaging	1.00
R4245:Sf3a1	UTSW	11	4,117,774 (GRCm39)	missense	probably damaging	1.00
R5167:Sf3a1	UTSW	11	4,127,456 (GRCm39)	missense	possibly damaging	0.71
R5434:Sf3a1	UTSW	11	4,124,041 (GRCm39)	missense	probably damaging	1.00
R7471:Sf3a1	UTSW	11	4,117,724 (GRCm39)	missense	possibly damaging	0.94
R7506:Sf3a1	UTSW	11	4,127,561 (GRCm39)	missense	probably benign	0.02
R7943:Sf3a1	UTSW	11	4,116,537 (GRCm39)	missense	possibly damaging	0.46
R8039:Sf3a1	UTSW	11	4,117,787 (GRCm39)	missense	probably damaging	1.00
R8074:Sf3a1	UTSW	11	4,125,435 (GRCm39)	nonsense	probably null
R8299:Sf3a1	UTSW	11	4,129,420 (GRCm39)	missense	possibly damaging	0.88
R8500:Sf3a1	UTSW	11	4,125,039 (GRCm39)	missense	probably benign	0.18
R9169:Sf3a1	UTSW	11	4,116,681 (GRCm39)	missense	probably benign	0.28
R9352:Sf3a1	UTSW	11	4,110,494 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AATGAAGCCTGTGTAGTGTCACACC -3'
(R):5'- GGCAGGACCCTTGCTTACTTCATAC -3'

Sequencing Primer
(F):5'- GGTATCAGCAGTAAAGGGGTG -3'
(R):5'- TCTGTTTCCCCGCAGGC -3'

Posted On

2014-04-13