Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Sf3b5'

262436

Institutional Source

Beutler Lab

Gene Symbol

Sf3b5

Ensembl Gene

ENSMUSG00000078348

Gene Name

splicing factor 3b, subunit 5

Synonyms

Sf3b10, 10kDa, 1110005L13Rik

MMRRC Submission

039219-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1146 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

12884194-12884927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12884575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 70 (E70G)

Ref Sequence

ENSEMBL: ENSMUSP00000100771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105139]

AlphaFold

Q923D4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105139
AA Change: E70G

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100771
Gene: ENSMUSG00000078348
AA Change: E70G

Domain	Start	End	E-Value	Type
Pfam:SF3b10	3	80	3.5e-43	PFAM

Coding Region Coverage

1x: 99.4%
3x: 97.6%
10x: 85.8%
20x: 55.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,679,795 (GRCm39)	V1848E	probably damaging	Het
Alpk3	A	G	7: 80,727,343 (GRCm39)	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,389,756 (GRCm39)	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591 (GRCm39)	N246S	probably damaging	Het
Ctsj	G	A	13: 61,150,312 (GRCm39)	P230L	probably benign	Het
Eme1	A	G	11: 94,536,277 (GRCm39)	L564P	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fzd2	A	T	11: 102,496,206 (GRCm39)	S217C	possibly damaging	Het
Gaa	G	T	11: 119,165,730 (GRCm39)	R81L	probably damaging	Het
Gfral	A	G	9: 76,074,341 (GRCm39)	V368A	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gucy1a2	T	A	9: 3,759,830 (GRCm39)	N545K	probably damaging	Het
Herc2	T	C	7: 55,796,444 (GRCm39)	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231 (GRCm39)	I53T	probably benign	Het
Iqub	G	A	6: 24,505,627 (GRCm39)	L94F	possibly damaging	Het
Kpna1	C	T	16: 35,853,749 (GRCm39)	R460*	probably null	Het
Masp1	T	C	16: 23,310,865 (GRCm39)	E189G	probably damaging	Het
Mogat1	A	G	1: 78,500,250 (GRCm39)	I105V	probably benign	Het
Msh2	C	A	17: 87,987,488 (GRCm39)	D209E	probably benign	Het
Nsf	G	A	11: 103,719,364 (GRCm39)	T646I	probably damaging	Het
Or10g9b	A	T	9: 39,917,390 (GRCm39)	V285D	possibly damaging	Het
Or4c10b	C	T	2: 89,711,550 (GRCm39)	P127S	probably damaging	Het
Or5b24	T	A	19: 12,912,329 (GRCm39)	S76T	possibly damaging	Het
Or6b2	G	A	1: 92,407,612 (GRCm39)	H244Y	probably damaging	Het
Otogl	T	A	10: 107,722,374 (GRCm39)	I327F	probably damaging	Het
Pappa2	T	C	1: 158,682,552 (GRCm39)	D832G	probably damaging	Het
Pfkfb4	A	G	9: 108,836,794 (GRCm39)	E163G	probably benign	Het
Phc1	T	C	6: 122,300,416 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,824,957 (GRCm39)	S552P	probably benign	Het
Ppfia3	A	C	7: 45,001,639 (GRCm39)	D424E	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,178,711 (GRCm39)		probably null	Het
Rexo1	C	T	10: 80,380,239 (GRCm39)	S919N	probably benign	Het
Sec31a	T	C	5: 100,510,032 (GRCm39)	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,274,445 (GRCm39)	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,589,646 (GRCm39)	V539A	probably benign	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,285,493 (GRCm39)		probably benign	Het
Tor1aip2	T	C	1: 155,940,483 (GRCm39)	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,813,733 (GRCm39)	E380G	probably damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Usp50	T	C	2: 126,551,392 (GRCm39)	Y29C	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Zfp110	A	G	7: 12,580,721 (GRCm39)		probably null	Het
Zfp335	G	A	2: 164,738,043 (GRCm39)	A856V	probably benign	Het
Zfp652	G	A	11: 95,640,608 (GRCm39)	E178K	possibly damaging	Het

Other mutations in Sf3b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1109:Sf3b5	UTSW	10	12,884,497 (GRCm39)	missense	probably benign	0.33
R1146:Sf3b5	UTSW	10	12,884,575 (GRCm39)	missense	possibly damaging	0.61
R6913:Sf3b5	UTSW	10	12,884,487 (GRCm39)	missense	probably benign	0.00
R8705:Sf3b5	UTSW	10	12,884,554 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-04