Mutagenetix > Incidental Mutation

Incidental Mutation 'R8170:Sf3a2'

652022

Institutional Source

Beutler Lab

Gene Symbol

Sf3a2

Ensembl Gene

ENSMUSG00000020211

Gene Name

splicing factor 3a, subunit 2

Synonyms

PRP11, 66kDa, Sap62, SFA66

MMRRC Submission

067596-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8170 (G1)

Quality Score

166.009

Status

Validated

Chromosome

Chromosomal Location

80634569-80640756 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 80639131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036016] [ENSMUST00000036805] [ENSMUST00000147440] [ENSMUST00000148665] [ENSMUST00000151928]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036016

SMART Domains

Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	38	52	N/A	INTRINSIC
Pfam:AMH_N	75	439	3e-133	PFAM
TGFB	456	554	8.57e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036805

SMART Domains

Protein: ENSMUSP00000042334
Gene: ENSMUSG00000035278

Domain	Start	End	E-Value	Type
PH	16	110	1.48e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147440

SMART Domains

Protein: ENSMUSP00000116478
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
Blast:CactinC_cactus	41	67	1e-9	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000148665

SMART Domains

Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	219	8.29e-35	SMART
low complexity region	300	318	N/A	INTRINSIC
low complexity region	320	420	N/A	INTRINSIC
low complexity region	423	452	N/A	INTRINSIC
low complexity region	459	484	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000151928

SMART Domains

Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	194	1.26e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,411,713 (GRCm39)	V595A	probably benign	Het
A430033K04Rik	A	G	5: 138,645,315 (GRCm39)	E400G	possibly damaging	Het
Abca16	C	T	7: 120,065,005 (GRCm39)	T554I	probably damaging	Het
Acadm	T	A	3: 153,650,035 (GRCm39)	R10W	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef25	A	G	10: 127,023,048 (GRCm39)	W120R	probably damaging	Het
Atg7	A	T	6: 114,678,151 (GRCm39)	Q347L	probably benign	Het
Atl2	T	C	17: 80,163,690 (GRCm39)	I316V	possibly damaging	Het
B4galnt3	A	T	6: 120,183,577 (GRCm39)		probably null	Het
Baiap2l1	A	T	5: 144,214,502 (GRCm39)	Y397*	probably null	Het
Cacna1b	A	G	2: 24,568,886 (GRCm39)		probably null	Het
Capn10	T	C	1: 92,862,686 (GRCm39)	S31P	probably damaging	Het
Casp8ap2	C	T	4: 32,615,490 (GRCm39)		probably benign	Het
Ccdc122	A	T	14: 77,329,318 (GRCm39)	I124L	probably benign	Het
Ccdc90b	A	G	7: 92,210,750 (GRCm39)	S3G	probably benign	Het
Cdc14b	A	T	13: 64,363,549 (GRCm39)		probably null	Het
Chd5	T	A	4: 152,461,040 (GRCm39)	M1210K	probably benign	Het
Clec18a	T	G	8: 111,807,551 (GRCm39)	K133T	probably damaging	Het
Cog4	T	A	8: 111,592,663 (GRCm39)	M413K	probably damaging	Het
Cpa5	A	T	6: 30,624,594 (GRCm39)	I145L	probably benign	Het
Ctdspl2	T	G	2: 121,837,423 (GRCm39)	S397A	probably benign	Het
Dnah8	T	A	17: 30,892,797 (GRCm39)	I794N	probably damaging	Het
Ednrb	T	A	14: 104,060,640 (GRCm39)	T218S	possibly damaging	Het
Eif3b	T	A	5: 140,412,530 (GRCm39)		probably null	Het
Fanci	A	C	7: 79,083,305 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,161,281 (GRCm39)	V3150M	probably damaging	Het
Fat3	T	C	9: 15,858,792 (GRCm39)	Y3808C	probably damaging	Het
Gabrr1	T	A	4: 33,162,718 (GRCm39)	L428Q	probably damaging	Het
Garnl3	G	C	2: 32,905,235 (GRCm39)	P488R	possibly damaging	Het
Gli3	T	C	13: 15,894,793 (GRCm39)	S656P	probably benign	Het
Gpr153	T	C	4: 152,364,634 (GRCm39)	I230T	probably damaging	Het
Hoxc6	A	G	15: 102,918,293 (GRCm39)	N86D	probably benign	Het
Iqch	T	G	9: 63,336,312 (GRCm39)	R985S	probably damaging	Het
Jun	T	A	4: 94,938,559 (GRCm39)	N317I	probably damaging	Het
Kif26a	T	G	12: 112,141,752 (GRCm39)		probably null	Het
Map4k3	T	C	17: 80,913,289 (GRCm39)	H627R	possibly damaging	Het
Misp	T	A	10: 79,662,300 (GRCm39)	I239N	probably benign	Het
Mpzl2	T	A	9: 44,955,019 (GRCm39)	V27E	probably damaging	Het
Mta3	T	C	17: 84,099,090 (GRCm39)	S385P	probably damaging	Het
Muc5b	G	A	7: 141,414,737 (GRCm39)	S2561N	unknown	Het
Myh8	A	G	11: 67,179,092 (GRCm39)	H495R	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp5	A	T	7: 23,133,135 (GRCm39)	T927S	probably benign	Het
Nr5a2	T	A	1: 136,868,385 (GRCm39)	D310V	probably benign	Het
Nrbp1	A	G	5: 31,403,147 (GRCm39)	T207A	probably damaging	Het
Nxf1	G	T	19: 8,748,414 (GRCm39)	L14F	probably benign	Het
Or2a25	G	A	6: 42,889,125 (GRCm39)	A223T	possibly damaging	Het
Or6c207	T	A	10: 129,104,917 (GRCm39)	N92Y	possibly damaging	Het
Pcdhb15	A	G	18: 37,608,637 (GRCm39)	E623G	probably damaging	Het
Pid1	T	C	1: 84,262,721 (GRCm39)		probably null	Het
Plcb2	C	A	2: 118,541,934 (GRCm39)	R892L	possibly damaging	Het
Polr1a	C	G	6: 71,897,733 (GRCm39)	P243A	probably benign	Het
Pot1a	A	G	6: 25,758,802 (GRCm39)	*326Q	probably null	Het
Ppp5c	G	T	7: 16,741,071 (GRCm39)	F335L	probably damaging	Het
Prl8a2	T	C	13: 27,536,794 (GRCm39)	Y139H	probably benign	Het
Rogdi	G	T	16: 4,829,601 (GRCm39)	R93S	probably benign	Het
Rsph6a	C	A	7: 18,791,505 (GRCm39)	R225S	probably damaging	Het
Septin8	T	C	11: 53,428,684 (GRCm39)	S408P	possibly damaging	Het
Shank3	T	C	15: 89,433,043 (GRCm39)	S1263P	possibly damaging	Het
Speer4f2	A	C	5: 17,579,459 (GRCm39)	D86A		Het
Spmip8	A	T	8: 96,046,686 (GRCm39)	I120F	probably damaging	Het
Stard9	T	C	2: 120,530,529 (GRCm39)	F2262S	possibly damaging	Het
Svep1	T	A	4: 58,069,378 (GRCm39)	I2803F	probably benign	Het
Taf1c	C	T	8: 120,329,565 (GRCm39)		probably null	Het
Tasor2	G	A	13: 3,624,881 (GRCm39)	Q1690*	probably null	Het
Tfap2a	C	T	13: 40,872,744 (GRCm39)	V317I	probably benign	Het
Thnsl2	T	C	6: 71,106,317 (GRCm39)	T370A	probably benign	Het
Tmem201	C	T	4: 149,803,177 (GRCm39)	G564S	probably benign	Het
Ttc41	A	C	10: 86,612,030 (GRCm39)	E1101A	probably damaging	Het
Ugcg	T	A	4: 59,211,974 (GRCm39)	F113L	possibly damaging	Het
Unc80	G	T	1: 66,690,692 (GRCm39)	V2456L	probably benign	Het
Vav3	A	T	3: 109,331,323 (GRCm39)	N74I	probably damaging	Het
Vmn2r25	T	A	6: 123,829,976 (GRCm39)	R58S	probably benign	Het
Wdr97	C	A	15: 76,247,819 (GRCm39)	F1614L		Het
Ylpm1	T	A	12: 85,080,801 (GRCm39)	M1499K	probably benign	Het
Zfp647	A	G	15: 76,795,571 (GRCm39)	V363A	possibly damaging	Het

Other mutations in Sf3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01717:Sf3a2	APN	10	80,640,526 (GRCm39)	nonsense	probably null
IGL02997:Sf3a2	APN	10	80,639,454 (GRCm39)	missense	probably damaging	1.00
R0470:Sf3a2	UTSW	10	80,640,388 (GRCm39)	unclassified	probably benign
R1436:Sf3a2	UTSW	10	80,640,040 (GRCm39)	unclassified	probably benign
R1437:Sf3a2	UTSW	10	80,640,040 (GRCm39)	unclassified	probably benign
R2233:Sf3a2	UTSW	10	80,638,663 (GRCm39)	missense	probably benign	0.05
R2234:Sf3a2	UTSW	10	80,638,663 (GRCm39)	missense	probably benign	0.05
R3871:Sf3a2	UTSW	10	80,640,527 (GRCm39)	unclassified	probably benign
R4116:Sf3a2	UTSW	10	80,637,175 (GRCm39)	missense	probably damaging	0.98
R4659:Sf3a2	UTSW	10	80,639,418 (GRCm39)	missense	probably damaging	1.00
R4946:Sf3a2	UTSW	10	80,639,947 (GRCm39)	unclassified	probably benign
R5081:Sf3a2	UTSW	10	80,640,275 (GRCm39)	unclassified	probably benign
R5618:Sf3a2	UTSW	10	80,640,410 (GRCm39)	unclassified	probably benign
R6039:Sf3a2	UTSW	10	80,637,297 (GRCm39)	missense	probably damaging	1.00
R6039:Sf3a2	UTSW	10	80,637,297 (GRCm39)	missense	probably damaging	1.00
R7925:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R7930:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R8118:Sf3a2	UTSW	10	80,639,474 (GRCm39)	missense	probably damaging	1.00
R8757:Sf3a2	UTSW	10	80,640,138 (GRCm39)	missense	unknown
R8785:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R8874:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R9111:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R9292:Sf3a2	UTSW	10	80,640,560 (GRCm39)	missense	unknown
R9575:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R9663:Sf3a2	UTSW	10	80,637,309 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGATAAGTACCATCCCTACTGGC -3'
(R):5'- TTGGTCACTGCAACAGAAGG -3'

Sequencing Primer
(F):5'- TGGCAATCTCCAGAAGCAG -3'
(R):5'- TCACTGCAACAGAAGGGATGG -3'

Posted On

2020-09-23