Mutagenetix > Incidental Mutation

Incidental Mutation 'R7943:Sf3a1'

649173

Institutional Source

Beutler Lab

Gene Symbol

Sf3a1

Ensembl Gene

ENSMUSG00000002129

Gene Name

splicing factor 3a, subunit 1

Synonyms

1200014H24Rik, 5930416L09Rik

MMRRC Submission

045989-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4110354-4132541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4116537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 76 (I76T)

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

possibly damaging
Transcript: ENSMUST00000002198
AA Change: I76T

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: I76T

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

0.1432

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,736,222 (GRCm39)	T205I	probably benign	Het
Acsbg1	T	C	9: 54,530,021 (GRCm39)	H225R	probably damaging	Het
Anks1	T	A	17: 28,204,178 (GRCm39)	Y209N	probably damaging	Het
Appl1	T	A	14: 26,667,525 (GRCm39)	I377L	probably benign	Het
Arl9	A	T	5: 77,158,395 (GRCm39)	D159V	probably damaging	Het
Arsa	A	C	15: 89,358,292 (GRCm39)	L339R	probably damaging	Het
C2	A	G	17: 35,091,354 (GRCm39)	L380P	probably damaging	Het
Ccdc13	A	G	9: 121,628,196 (GRCm39)	C97R	unknown	Het
Ccdc74a	A	G	16: 17,468,416 (GRCm39)	H346R	probably benign	Het
Ccnl1	T	C	3: 65,864,326 (GRCm39)	I152V	probably benign	Het
Cd4	C	T	6: 124,847,207 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,479,491 (GRCm39)	I203L	probably benign	Het
Ckap2	C	A	8: 22,665,090 (GRCm39)	R458L	probably damaging	Het
Cldn10	T	C	14: 119,099,271 (GRCm39)		probably null	Het
Col27a1	C	T	4: 63,236,520 (GRCm39)	R1377C	unknown	Het
Cry1	A	T	10: 84,978,984 (GRCm39)	M514K	probably benign	Het
Crybg2	T	G	4: 133,800,295 (GRCm39)	V176G	probably damaging	Het
Cyp2j5	C	T	4: 96,547,849 (GRCm39)	G131D	possibly damaging	Het
Ddx46	A	G	13: 55,817,535 (GRCm39)	Y720C	probably damaging	Het
Dock10	A	T	1: 80,626,006 (GRCm39)	V44D	probably damaging	Het
Eif1ad8	C	T	12: 87,563,773 (GRCm39)	A36V	probably damaging	Het
Enam	A	T	5: 88,636,410 (GRCm39)		probably null	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam184a	C	T	10: 53,523,137 (GRCm39)	A956T	probably damaging	Het
Fbxw10	A	T	11: 62,741,487 (GRCm39)	R202*	probably null	Het
Fnip1	A	G	11: 54,393,214 (GRCm39)	E550G	probably damaging	Het
Gpr149	A	G	3: 62,438,132 (GRCm39)	L675P	probably damaging	Het
Hivep3	T	C	4: 119,989,554 (GRCm39)	Y2002H	probably benign	Het
Hp	A	G	8: 110,302,187 (GRCm39)	Y254H	probably damaging	Het
Ighg1	G	T	12: 113,293,957 (GRCm39)	T62N		Het
Jcad	A	G	18: 4,672,700 (GRCm39)	E154G	probably damaging	Het
Kmt2a	A	G	9: 44,760,437 (GRCm39)	S471P	probably damaging	Het
Med13	A	G	11: 86,169,352 (GRCm39)	V1968A	probably damaging	Het
Mknk2	T	A	10: 80,511,701 (GRCm39)	Q3L	probably benign	Het
Nup98	G	A	7: 101,844,029 (GRCm39)	T65I	probably benign	Het
Or10p21	T	A	10: 128,847,934 (GRCm39)	M260K	possibly damaging	Het
Or51f1e	G	A	7: 102,747,153 (GRCm39)	M68I	probably damaging	Het
Or5m11	A	G	2: 85,782,342 (GRCm39)	T312A	probably benign	Het
Or9i14	A	T	19: 13,792,600 (GRCm39)	M118K	probably damaging	Het
Pcdhgb4	C	T	18: 37,855,063 (GRCm39)	T486I	probably benign	Het
Perm1	T	A	4: 156,302,991 (GRCm39)	F512I	probably damaging	Het
Pgap3	A	T	11: 98,281,227 (GRCm39)	L262Q	probably damaging	Het
Pklr	A	C	3: 89,048,814 (GRCm39)	Y126S	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppm1k	T	C	6: 57,501,813 (GRCm39)	T117A	probably benign	Het
Prkd2	G	A	7: 16,584,244 (GRCm39)	E366K	probably benign	Het
Psd	C	A	19: 46,313,169 (GRCm39)	C67F	possibly damaging	Het
Ptpra	T	A	2: 30,322,056 (GRCm39)	F100L	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rock1	T	C	18: 10,112,357 (GRCm39)	E466G	probably damaging	Het
Sec16b	A	T	1: 157,382,327 (GRCm39)	M588L	probably benign	Het
Serpina1f	T	A	12: 103,659,949 (GRCm39)	H111L	probably damaging	Het
Shcbp1	A	T	8: 4,798,812 (GRCm39)	L369Q	possibly damaging	Het
Spef2	A	G	15: 9,601,171 (GRCm39)	M1697T	unknown	Het
St7	G	A	6: 17,844,911 (GRCm39)	C133Y	probably damaging	Het
Tdpoz6	A	T	3: 93,600,070 (GRCm39)	C100S	probably benign	Het
Tex19.1	T	A	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tfrc	T	A	16: 32,449,039 (GRCm39)	I726N	probably benign	Het
Thbs1	A	G	2: 117,950,098 (GRCm39)		probably null	Het
Trim43a	C	T	9: 88,464,238 (GRCm39)	P50S	probably benign	Het
Trpm4	A	T	7: 44,958,105 (GRCm39)	V935E	probably damaging	Het
Ttc12	A	T	9: 49,381,620 (GRCm39)	V117D	possibly damaging	Het
Ulbp1	T	C	10: 7,407,053 (GRCm39)	T82A	probably damaging	Het
Usp13	C	T	3: 32,931,089 (GRCm39)	H288Y	probably damaging	Het
Vmn2r82	A	G	10: 79,232,079 (GRCm39)	K693E	possibly damaging	Het
Vmn2r90	A	G	17: 17,932,566 (GRCm39)	T158A	probably damaging	Het
Vps8	A	G	16: 21,296,622 (GRCm39)	K540R	possibly damaging	Het
Zfp143	T	A	7: 109,671,681 (GRCm39)		probably null	Het
Zfp709	G	T	8: 72,643,933 (GRCm39)	C454F	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
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
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'- CTGAGTGGTCACAGAGGTTG -3'
(R):5'- CTAACCCACAAAGAGAGGCTGG -3'

Sequencing Primer
(F):5'- ACAGGGTTTCTCTGTGTAGCCC -3'
(R):5'- TGGACTGCAAACCTTCTGG -3'

Posted On

2020-09-15