Mutagenetix > Incidental Mutation

Incidental Mutation 'R5434:Sf3a1'

428220

Institutional Source

Beutler Lab

Gene Symbol

Sf3a1

Ensembl Gene

ENSMUSG00000002129

Gene Name

splicing factor 3a, subunit 1

Synonyms

1200014H24Rik, 5930416L09Rik

MMRRC Submission

042999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4110354-4132541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4124041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 296 (P296Q)

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 damaging
Transcript: ENSMUST00000002198
AA Change: P296Q

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

SMART Domains

Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: P296Q

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: ENSMUST00000129583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133095

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	G	T	9: 20,786,821 (GRCm39)	Q301K	probably damaging	Het
Ankfn1	T	C	11: 89,344,013 (GRCm39)	Y323C	probably damaging	Het
Arid5b	T	A	10: 67,932,719 (GRCm39)	H818L	possibly damaging	Het
Atg13	G	T	2: 91,515,110 (GRCm39)		probably null	Het
Bltp1	A	C	3: 36,929,665 (GRCm39)	D94A	probably damaging	Het
Bop1	T	C	15: 76,339,611 (GRCm39)	M245V	probably benign	Het
Ces2a	T	A	8: 105,464,041 (GRCm39)	F224L	probably damaging	Het
Cntnap5b	A	G	1: 99,999,926 (GRCm39)	H228R	probably benign	Het
Col9a2	A	T	4: 120,898,162 (GRCm39)	R25*	probably null	Het
Dcaf12	G	T	4: 41,302,744 (GRCm39)	T137N	probably benign	Het
Dennd4c	A	G	4: 86,729,693 (GRCm39)	N765S	probably benign	Het
Dnah12	A	G	14: 26,581,256 (GRCm39)	Y3162C	probably damaging	Het
Dpf1	G	T	7: 29,010,756 (GRCm39)	C123F	possibly damaging	Het
Flvcr1	C	A	1: 190,758,206 (GRCm39)	A29S	probably benign	Het
Frmd3	A	T	4: 74,106,033 (GRCm39)	I560F	probably damaging	Het
Galnt15	G	A	14: 31,771,800 (GRCm39)	V282I	possibly damaging	Het
Gm14412	A	T	2: 177,006,405 (GRCm39)	C497S	probably damaging	Het
Gm20830	A	T	Y: 6,916,464 (GRCm39)	Y218*	probably null	Het
Hmcn2	C	A	2: 31,310,375 (GRCm39)	T3323N	probably damaging	Het
Idh1	T	A	1: 65,214,495 (GRCm39)	Q6L	probably benign	Het
Kansl2-ps	A	G	7: 72,322,813 (GRCm39)		noncoding transcript	Het
Kcnj10	T	A	1: 172,197,047 (GRCm39)	V187E	probably damaging	Het
Khnyn	A	G	14: 56,124,957 (GRCm39)	T404A	probably damaging	Het
Lrp1b	T	A	2: 41,660,880 (GRCm39)	N76I	probably damaging	Het
Lrrc9	G	A	12: 72,500,862 (GRCm39)	C196Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mgp	T	A	6: 136,849,772 (GRCm39)	N62I	probably benign	Het
Ms4a6c	T	A	19: 11,448,588 (GRCm39)	H40Q	probably benign	Het
Necab3	A	G	2: 154,389,379 (GRCm39)	S121P	probably damaging	Het
Nfkb1	T	A	3: 135,332,372 (GRCm39)	K128*	probably null	Het
Nr4a3	A	T	4: 48,067,861 (GRCm39)	R486W	probably damaging	Het
Nwd2	A	G	5: 63,964,991 (GRCm39)	K1525R	probably benign	Het
Odad2	T	C	18: 7,222,550 (GRCm39)	K573R	probably benign	Het
Pbrm1	G	T	14: 30,806,968 (GRCm39)	D1085Y	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rbm15	A	G	3: 107,237,783 (GRCm39)	S872P	possibly damaging	Het
Retsat	A	G	6: 72,578,518 (GRCm39)	I77V	probably damaging	Het
Rpl32	A	G	6: 115,783,996 (GRCm39)	F77L	probably benign	Het
Ryr3	A	T	2: 112,624,814 (GRCm39)	V2202D	probably damaging	Het
Sars2	G	A	7: 28,449,716 (GRCm39)	R387Q	probably null	Het
Serpinb3d	G	T	1: 107,006,263 (GRCm39)	T275N	probably benign	Het
Sh3bgr	A	G	16: 96,025,744 (GRCm39)		probably benign	Het
St3gal3	A	G	4: 117,797,247 (GRCm39)	L332P	probably damaging	Het
Ston1	A	G	17: 88,952,739 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,018,649 (GRCm39)	S3383T	probably damaging	Het
Tektl1	A	T	10: 78,584,484 (GRCm39)	L346*	probably null	Het
Tnfsf14	A	G	17: 57,499,592 (GRCm39)	S87P	probably benign	Het
Trap1	T	C	16: 3,862,529 (GRCm39)	D583G	probably benign	Het
Ube3d	A	T	9: 86,309,460 (GRCm39)	I212N	possibly damaging	Het
Usp34	T	A	11: 23,362,271 (GRCm39)	D1572E	probably damaging	Het
Vmn1r179	A	T	7: 23,628,387 (GRCm39)	T193S	probably benign	Het
Vmn2r111	C	A	17: 22,767,470 (GRCm39)	V676L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	C	T	3: 159,639,976 (GRCm39)	R536C	probably damaging	Het
Zfhx3	A	G	8: 109,519,031 (GRCm39)	D51G	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
R1561:Sf3a1	UTSW	11	4,129,217 (GRCm39)	missense	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
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'- AAGGGTGGCCTCTTTTCTTC -3'
(R):5'- ATGTCCTGTACTTGAGTATCCTGG -3'

Sequencing Primer
(F):5'- GCCATCACACAGGGTCTATATGTAG -3'
(R):5'- GTACTTGAGTATCCTGGTCCAGC -3'

Posted On

2016-09-01