Mutagenetix > Incidental Mutation

Incidental Mutation 'R3705:Sf3b4'

258692

Institutional Source

Beutler Lab

Gene Symbol

Sf3b4

Ensembl Gene

ENSMUSG00000068856

Gene Name

splicing factor 3b, subunit 4

Synonyms

49kDa, Sap49, SF3b49

MMRRC Submission

040698-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R3705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96079822-96084880 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 96083944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035371] [ENSMUST00000054356] [ENSMUST00000076372] [ENSMUST00000129925]

AlphaFold

Q8QZY9

Predicted Effect

probably benign
Transcript: ENSMUST00000035371

SMART Domains

Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
low complexity region	39	58	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	123	138	N/A	INTRINSIC
Pfam:Sugar_tr	149	484	5.3e-30	PFAM
Pfam:MFS_1	168	483	1.6e-24	PFAM
Pfam:Pentapeptide_4	513	585	7.7e-11	PFAM
Pfam:MFS_1	561	739	3.9e-12	PFAM
Pfam:Sugar_tr	588	742	4.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054356

SMART Domains

Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	191	323	1.7e-12	PFAM
Pfam:Myotub-related	312	488	1.3e-44	PFAM
Pfam:3-PAP	550	683	2.3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076372

SMART Domains

Protein: ENSMUSP00000075709
Gene: ENSMUSG00000068856

Domain	Start	End	E-Value	Type
RRM	14	87	1.46e-25	SMART
RRM	101	175	5.07e-25	SMART
low complexity region	214	307	N/A	INTRINSIC
low complexity region	310	423	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122737

Predicted Effect

probably benign
Transcript: ENSMUST00000129925

SMART Domains

Protein: ENSMUSP00000118258
Gene: ENSMUSG00000045934

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	162	264	4.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154955

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: This gene encodes one of the subunits of splicing factor 3B. A similar gene in human encodes a protein that cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes, and also belongs with the minor U12-dependent spliceosome. [provided by RefSeq, May 2015]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Abca12	T	C	1: 71,324,864 (GRCm39)	D1538G	probably damaging	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Bltp1	T	A	3: 37,041,730 (GRCm39)	C2703S	probably damaging	Het
Brwd3	A	G	X: 107,804,021 (GRCm39)		probably benign	Het
Capn1	T	C	19: 6,057,401 (GRCm39)	E349G	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Csf3r	A	G	4: 125,926,078 (GRCm39)	D221G	possibly damaging	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Dnajc19	A	G	3: 34,134,378 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,607,020 (GRCm39)	V2566I	possibly damaging	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Fam133b	T	C	5: 3,611,034 (GRCm39)		probably benign	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Gpnmb	T	A	6: 49,028,799 (GRCm39)	I439N	possibly damaging	Het
Grm1	G	A	10: 10,658,473 (GRCm39)	T339I	possibly damaging	Het
Gtpbp3	T	G	8: 71,944,779 (GRCm39)	S345A	probably benign	Het
Hdac4	A	G	1: 91,862,416 (GRCm39)		probably benign	Het
Hfm1	A	G	5: 107,040,705 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,418,781 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,896,147 (GRCm39)	N1473S	probably benign	Het
Jak3	A	G	8: 72,134,166 (GRCm39)	K423E	probably damaging	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Lrrc8d	T	C	5: 105,961,341 (GRCm39)	S584P	probably damaging	Het
Nipal4	T	C	11: 46,052,678 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Nmur2	T	C	11: 55,931,300 (GRCm39)	Y137C	probably damaging	Het
Nod2	T	C	8: 89,379,948 (GRCm39)	S150P	probably benign	Het
Or5w22	A	G	2: 87,362,412 (GRCm39)	I12V	probably benign	Het
Pdgfc	T	C	3: 81,111,751 (GRCm39)		probably null	Het
Phldb1	G	T	9: 44,605,691 (GRCm39)	H1323N	probably damaging	Het
Ppp1r14c	A	G	10: 3,373,524 (GRCm39)	I112V	possibly damaging	Het
Pramel26	T	C	4: 143,538,345 (GRCm39)	T209A	probably benign	Het
Rcc1l	A	T	5: 134,183,030 (GRCm39)	V414E	probably damaging	Het
Riok3	A	G	18: 12,282,011 (GRCm39)	M327V	probably benign	Het
Spag6	A	G	2: 18,715,368 (GRCm39)	Y49C	probably damaging	Het
Syngap1	T	C	17: 27,178,994 (GRCm39)	S495P	probably damaging	Het
Tedc2	A	G	17: 24,435,361 (GRCm39)	S343P	probably benign	Het
Tenm2	T	A	11: 35,959,153 (GRCm39)	D1132V	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Top1	G	A	2: 160,544,744 (GRCm39)		probably null	Het
Tox3	G	T	8: 90,975,533 (GRCm39)	T366K	possibly damaging	Het
Tph2	G	A	10: 114,955,798 (GRCm39)	Q332*	probably null	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het

Other mutations in Sf3b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02330:Sf3b4	APN	3	96,080,376 (GRCm39)	missense	possibly damaging	0.84
R0385:Sf3b4	UTSW	3	96,080,298 (GRCm39)	missense	probably damaging	0.98
R0494:Sf3b4	UTSW	3	96,081,017 (GRCm39)	missense	probably damaging	0.98
R1403:Sf3b4	UTSW	3	96,080,953 (GRCm39)	splice site	probably null
R1403:Sf3b4	UTSW	3	96,080,953 (GRCm39)	splice site	probably null
R5305:Sf3b4	UTSW	3	96,080,958 (GRCm39)	missense	probably damaging	1.00
R6360:Sf3b4	UTSW	3	96,084,044 (GRCm39)	unclassified	probably benign
R9035:Sf3b4	UTSW	3	96,080,381 (GRCm39)	missense	probably damaging	1.00
R9489:Sf3b4	UTSW	3	96,080,946 (GRCm39)	missense	probably damaging	1.00
R9621:Sf3b4	UTSW	3	96,084,115 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCATCTCTCTGTTTAAGTCAGAAGG -3'
(R):5'- AGATCCAAAAGGAGGCCCTC -3'

Sequencing Primer
(F):5'- TCTGATGTGCTAAATAAACCTGGGG -3'
(R):5'- CAGGATGAGGCATTCCA -3'

Posted On

2015-01-23