Mutagenetix > Incidental Mutation

Incidental Mutation 'R7506:Sf3a1'

581804

Institutional Source

Beutler Lab

Gene Symbol

Sf3a1

Ensembl Gene

ENSMUSG00000002129

Gene Name

splicing factor 3a, subunit 1

Synonyms

1200014H24Rik, 5930416L09Rik

MMRRC Submission

045579-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7506 (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 4127561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 629 (M629T)

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: M629T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: M629T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,209,202 (GRCm39)	V31I	probably benign	Het
4933430I17Rik	T	C	4: 62,450,498 (GRCm39)	V24A	possibly damaging	Het
Adamtsl3	A	T	7: 82,164,186 (GRCm39)	R334W	probably damaging	Het
Aox1	G	A	1: 58,088,562 (GRCm39)	C116Y	probably damaging	Het
B3gntl1	A	T	11: 121,561,740 (GRCm39)	I74N	probably damaging	Het
Bicra	C	T	7: 15,722,138 (GRCm39)	V460M	possibly damaging	Het
Ccdc18	G	A	5: 108,311,605 (GRCm39)	C437Y	possibly damaging	Het
Cdh6	A	G	15: 13,034,396 (GRCm39)	S755P	probably damaging	Het
Crtc2	G	T	3: 90,166,519 (GRCm39)	A165S	probably damaging	Het
Cwf19l2	C	T	9: 3,456,775 (GRCm39)	H703Y	probably damaging	Het
Cyc1	C	A	15: 76,227,885 (GRCm39)	T41K	probably benign	Het
Defb28	A	T	2: 152,360,221 (GRCm39)	H12L	possibly damaging	Het
Dsg3	T	A	18: 20,666,521 (GRCm39)	C577S	probably benign	Het
Ggt6	G	T	11: 72,328,724 (GRCm39)	C408F	possibly damaging	Het
Gm3278	T	A	14: 16,080,479 (GRCm39)	Y97N	probably damaging	Het
Gpr155	A	G	2: 73,198,683 (GRCm39)	L412P	probably damaging	Het
Gucd1	T	C	10: 75,347,019 (GRCm39)	H77R	probably benign	Het
H2bc8	G	A	13: 23,755,658 (GRCm39)	A18T	unknown	Het
Hat1	T	A	2: 71,250,691 (GRCm39)	I158N	probably damaging	Het
Hhla1	C	T	15: 65,808,231 (GRCm39)	W271*	probably null	Het
Igsf10	T	A	3: 59,226,775 (GRCm39)	L2299F	probably damaging	Het
Iqsec1	A	G	6: 90,644,891 (GRCm39)	S914P	probably damaging	Het
Iqsec1	G	T	6: 90,639,788 (GRCm39)	H983Q	possibly damaging	Het
Irx2	G	T	13: 72,777,328 (GRCm39)	G50C	probably damaging	Het
Kif26b	T	C	1: 178,357,064 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,157,045 (GRCm39)	E1405G	unknown	Het
Mdm2	T	C	10: 117,526,596 (GRCm39)	D330G	possibly damaging	Het
Mgat5	A	C	1: 127,294,192 (GRCm39)	D178A	probably benign	Het
Mier2	C	A	10: 79,386,176 (GRCm39)	R25L	probably benign	Het
Mlip	T	C	9: 77,072,085 (GRCm39)	K257E	probably damaging	Het
Mtfr2	T	C	10: 20,229,131 (GRCm39)	S80P	probably benign	Het
Ndst2	A	G	14: 20,780,153 (GRCm39)	V29A	probably benign	Het
Negr1	T	G	3: 156,774,870 (GRCm39)	Y195*	probably null	Het
Nptn	T	C	9: 58,526,156 (GRCm39)	L101P	probably damaging	Het
Nrip1	G	A	16: 76,091,347 (GRCm39)	T70I	probably damaging	Het
Nrtn	C	T	17: 57,058,633 (GRCm39)	V123M	probably damaging	Het
Onecut1	T	A	9: 74,770,522 (GRCm39)	F315Y	possibly damaging	Het
Or1p1	A	T	11: 74,179,949 (GRCm39)	H159L	possibly damaging	Het
P4htm	A	G	9: 108,460,878 (GRCm39)	L198S	probably damaging	Het
Pappa	A	C	4: 65,149,419 (GRCm39)	I920L	probably benign	Het
Pcdhgb5	A	C	18: 37,865,525 (GRCm39)	D440A	probably damaging	Het
Ppard	A	T	17: 28,517,735 (GRCm39)	N268Y	possibly damaging	Het
Rapgef6	T	A	11: 54,526,997 (GRCm39)	S563T	probably benign	Het
Rtn3	T	A	19: 7,407,118 (GRCm39)	E949D	probably benign	Het
Slc39a8	T	C	3: 135,590,067 (GRCm39)	I319T	probably benign	Het
Sorcs1	C	T	19: 50,171,112 (GRCm39)	W925*	probably null	Het
Spag9	G	A	11: 93,999,290 (GRCm39)	D1069N	probably damaging	Het
Taar7a	A	G	10: 23,868,892 (GRCm39)	V163A	possibly damaging	Het
Tmem150a	G	A	6: 72,333,753 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,934,665 (GRCm39)	V2425I	possibly damaging	Het
Tppp2	A	G	14: 52,158,058 (GRCm39)	K168E	possibly damaging	Het
Ttn	T	A	2: 76,719,812 (GRCm39)	D7099V	unknown	Het
Vmn1r41	A	T	6: 89,724,159 (GRCm39)	R50*	probably null	Het
Vmn1r60	T	C	7: 5,547,861 (GRCm39)	K80E		Het
Vmn2r18	A	G	5: 151,508,485 (GRCm39)	F213S	possibly damaging	Het
Vmn2r26	G	A	6: 124,016,700 (GRCm39)	S388N	probably benign	Het
Vmn2r63	A	T	7: 42,576,391 (GRCm39)	F474Y	probably damaging	Het
Zc3hav1	G	A	6: 38,309,875 (GRCm39)	R316*	probably null	Het
Zfp654	A	T	16: 64,612,211 (GRCm39)	I225N	probably damaging	Het
Zfp97	A	G	17: 17,365,542 (GRCm39)	E347G	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
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'- TGAAGCTGAGCCTTGGCTTC -3'
(R):5'- GTCTCTCACAAGAAATATGGCTCC -3'

Sequencing Primer
(F):5'- AGCCTTGGCTTCCTGTGGC -3'
(R):5'- GAAATATGGCTCCCAGGTCC -3'

Posted On

2019-10-17