Mutagenetix > Incidental Mutations

Incidental Mutation 'R7425:Sbf2'

575991

Institutional Source

Beutler Lab

Gene Symbol

Sbf2

Ensembl Gene

ENSMUSG00000038371

Gene Name

SET binding factor 2

Synonyms

mMTMH1, 4833411B01Rik, Mtmr13, B430219L04Rik, SBF2

MMRRC Submission

Accession Numbers

Genbank: NM_177324; MGI: 1921831

Is this an essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R7425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110308013-110614922 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 110375777 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 718 (Q718*)

Ref Sequence

ENSEMBL: ENSMUSP00000033058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033058] [ENSMUST00000164759] [ENSMUST00000166020]

Predicted Effect

probably null
Transcript: ENSMUST00000033058
AA Change: Q718*

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: Q718*

Domain	Start	End	E-Value	Type
uDENN	1	87	2.27e-33	SMART
DENN	116	298	5.68e-75	SMART
dDENN	351	420	2e-20	SMART
Pfam:SBF2	530	752	3.3e-106	PFAM
GRAM	869	955	1.3e-12	SMART
low complexity region	1078	1089	N/A	INTRINSIC
Pfam:Myotub-related	1091	1544	8.3e-86	PFAM
PH	1767	1872	3.05e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000164759
AA Change: Q718*

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: Q718*

Domain	Start	End	E-Value	Type
uDENN	1	87	2.27e-33	SMART
DENN	116	298	5.68e-75	SMART
dDENN	351	420	2e-20	SMART
Pfam:SBF2	528	752	1.6e-107	PFAM
GRAM	869	955	1.3e-12	SMART
Pfam:Myotub-related	1089	1521	1.6e-98	PFAM
PH	1742	1847	3.05e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166020
AA Change: Q672*

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: Q672*

Domain	Start	End	E-Value	Type
uDENN	1	75	9.26e-1	SMART
DENN	70	252	5.68e-75	SMART
dDENN	305	374	2e-20	SMART
Pfam:SBF2	482	706	1.6e-107	PFAM
GRAM	823	909	1.3e-12	SMART
Pfam:Myotub-related	1043	1500	5.9e-98	PFAM
PH	1721	1826	3.05e-18	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted, other(2) Gene trapped(9)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,695	E215G	probably benign	Het
4932438A13Rik	T	A	3: 36,948,341	H1478Q	probably benign	Het
4932438A13Rik	A	T	3: 36,983,394	H2448L	probably benign	Het
Adam8	T	A	7: 139,992,481		probably benign	Het
Ankrd35	A	G	3: 96,684,788	S797G	not run	Het
Anxa3	T	A	5: 96,834,821	H259Q	probably benign	Het
Ap3d1	T	A	10: 80,721,592	Q302L	probably damaging	Het
Atg2a	T	C	19: 6,255,652	V1294A	probably benign	Het
Atp13a5	G	A	16: 29,297,460	Q613*	probably null	Het
Bmpr2	T	G	1: 59,867,351	N534K	probably benign	Het
C1qbp	T	C	11: 70,978,246		probably null	Het
C1qbp	G	T	11: 70,978,247		probably null	Het
C1ql3	T	G	2: 13,010,418	K144Q	possibly damaging	Het
C3	T	C	17: 57,204,039	M1656V	possibly damaging	Het
Cand1	A	T	10: 119,216,243	Y252N	probably benign	Het
Capn13	T	C	17: 73,318,058	I632M	probably benign	Het
Catsperb	A	G	12: 101,591,498	E776G	probably damaging	Het
Ccnl1	A	T	3: 65,948,758	V242D	probably damaging	Het
Cd68	T	C	11: 69,665,112	D200G	probably benign	Het
Cela3a	T	C	4: 137,405,588	N118D	probably benign	Het
Celsr2	A	G	3: 108,402,457	C1609R	probably damaging	Het
Cep85l	G	C	10: 53,301,570	Q458E	probably damaging	Het
Cnga1	T	G	5: 72,609,525	E190D	probably benign	Het
Cntnap3	G	A	13: 64,758,252	R847C	probably damaging	Het
Cntrob	G	A	11: 69,314,734	Q425*	probably null	Het
Commd9	G	A	2: 101,899,900	W128*	probably null	Het
Csnk1a1	C	T	18: 61,585,259	S352L	unknown	Het
Dact2	A	G	17: 14,196,331	S536P	probably damaging	Het
Ddx25	A	G	9: 35,554,586	I113T	probably benign	Het
Dscam	T	A	16: 96,629,398	D1630V	probably damaging	Het
Fndc7	A	C	3: 108,876,659	F211L	probably benign	Het
Fryl	T	C	5: 73,104,748	T559A	probably damaging	Het
Hpx	C	A	7: 105,591,861	D402Y	probably damaging	Het
Ints13	A	G	6: 146,574,700		probably null	Het
Ipcef1	T	C	10: 6,956,066	K76E	probably damaging	Het
Kcnb2	A	C	1: 15,709,807	Q301P	probably damaging	Het
Lamp3	C	T	16: 19,699,612		probably null	Het
Lmod2	A	T	6: 24,603,476	H150L	probably benign	Het
Lrch3	T	C	16: 33,005,707	F718S	probably damaging	Het
Mms22l	T	C	4: 24,596,287	V1082A	probably benign	Het
Nbas	G	T	12: 13,469,880	V1598L	probably damaging	Het
Nrxn3	C	T	12: 89,513,100	R671*	probably null	Het
Olfr1215	A	T	2: 89,002,200	F29L		Het
Olfr1441	A	C	19: 12,422,840	H177P	probably damaging	Het
Olfr214	A	T	6: 116,556,437	E4V	possibly damaging	Het
Olfr48	A	G	2: 89,844,445	L176P	probably damaging	Het
Olfr671	A	T	7: 104,975,061	L312*	probably null	Het
Pcdhga6	T	A	18: 37,708,566	N446K	probably damaging	Het
Phlpp1	A	T	1: 106,392,573	I1433F	probably benign	Het
Pla2g6	G	A	15: 79,308,733	R245C	probably damaging	Het
Rgl3	G	A	9: 21,976,827	Q464*	probably null	Het
Ryr2	T	C	13: 11,705,644	D2706G	probably benign	Het
Sdad1	T	C	5: 92,300,121	T252A	probably benign	Het
Sgk1	T	C	10: 21,994,110	L16P	probably damaging	Het
Slc38a8	A	G	8: 119,485,588	S339P	possibly damaging	Het
Slc44a4	T	C	17: 34,921,691	S287P	possibly damaging	Het
Syne1	T	C	10: 5,425,760	I111V	probably damaging	Het
Synm	A	C	7: 67,733,446	S1489R	probably damaging	Het
Tfb2m	A	G	1: 179,537,704	F232L	probably benign	Het
Traf3	A	T	12: 111,260,661	K328*	probably null	Het
Trim38	C	A	13: 23,788,382	Q229K	probably benign	Het
Vcan	A	G	13: 89,689,832	I2531T	probably damaging	Het
Virma	T	A	4: 11,546,211	I1683N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,566	M1K	probably null	Het
Vmn2r87	T	C	10: 130,478,892	N275S	probably damaging	Het
Vps13a	T	A	19: 16,723,702	H701L	probably benign	Het
Vrk3	T	A	7: 44,770,924		probably null	Het
Zfp993	T	A	4: 146,657,641	S141T	possibly damaging	Het

Other mutations in Sbf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Sbf2	APN	7	110375832	splice site	probably benign
IGL01089:Sbf2	APN	7	110348962	missense	probably damaging	1.00
IGL01144:Sbf2	APN	7	110329903	missense	probably damaging	1.00
IGL01652:Sbf2	APN	7	110447120	missense	probably damaging	1.00
IGL01950:Sbf2	APN	7	110365825	missense	probably benign	0.00
IGL02027:Sbf2	APN	7	110461141	missense	probably damaging	1.00
IGL02244:Sbf2	APN	7	110560295	missense	probably damaging	1.00
IGL02376:Sbf2	APN	7	110462956	missense	probably damaging	0.99
IGL03405:Sbf2	APN	7	110462932	missense	probably damaging	0.98
N/A - 535:Sbf2	UTSW	7	110312752	missense	probably benign
R0084:Sbf2	UTSW	7	110442366	missense	possibly damaging	0.95
R0092:Sbf2	UTSW	7	110320806	splice site	probably benign
R0121:Sbf2	UTSW	7	110489219	critical splice donor site	probably null
R0464:Sbf2	UTSW	7	110464576	splice site	probably benign
R0505:Sbf2	UTSW	7	110399343	missense	probably damaging	1.00
R0531:Sbf2	UTSW	7	110367323	splice site	probably benign
R0554:Sbf2	UTSW	7	110428287	missense	probably damaging	1.00
R0617:Sbf2	UTSW	7	110330683	frame shift	probably null
R0619:Sbf2	UTSW	7	110310262	missense	possibly damaging	0.87
R0799:Sbf2	UTSW	7	110341355	missense	possibly damaging	0.58
R0898:Sbf2	UTSW	7	110371652	missense	possibly damaging	0.59
R1077:Sbf2	UTSW	7	110367172	splice site	probably benign
R1167:Sbf2	UTSW	7	110364549	missense	probably damaging	1.00
R1169:Sbf2	UTSW	7	110310184	missense	probably benign	0.04
R1424:Sbf2	UTSW	7	110315026	missense	probably damaging	1.00
R1536:Sbf2	UTSW	7	110378043	missense	probably damaging	1.00
R1558:Sbf2	UTSW	7	110428346	missense	probably damaging	1.00
R1601:Sbf2	UTSW	7	110340076	critical splice acceptor site	probably null
R1762:Sbf2	UTSW	7	110312758	missense	probably benign
R1771:Sbf2	UTSW	7	110461146	nonsense	probably null
R1989:Sbf2	UTSW	7	110348923	missense	possibly damaging	0.94
R2109:Sbf2	UTSW	7	110461212	missense	probably damaging	1.00
R2126:Sbf2	UTSW	7	110560295	missense	probably damaging	1.00
R2444:Sbf2	UTSW	7	110330698	missense	probably benign	0.31
R3765:Sbf2	UTSW	7	110375581	missense	probably damaging	1.00
R3808:Sbf2	UTSW	7	110489280	makesense	probably null
R3895:Sbf2	UTSW	7	110447091	missense	probably damaging	0.99
R3978:Sbf2	UTSW	7	110329885	missense	probably benign	0.00
R4056:Sbf2	UTSW	7	110441466	missense	probably damaging	0.99
R4057:Sbf2	UTSW	7	110441466	missense	probably damaging	0.99
R4111:Sbf2	UTSW	7	110428242	missense	probably damaging	1.00
R4569:Sbf2	UTSW	7	110348853	critical splice donor site	probably null
R4670:Sbf2	UTSW	7	110335399	missense	probably damaging	1.00
R4763:Sbf2	UTSW	7	110420917	missense	probably damaging	1.00
R4792:Sbf2	UTSW	7	110351610	missense	probably damaging	0.98
R4811:Sbf2	UTSW	7	110372535	missense	probably damaging	1.00
R4822:Sbf2	UTSW	7	110377939	intron	probably benign
R5110:Sbf2	UTSW	7	110364657	missense	probably benign	0.10
R5143:Sbf2	UTSW	7	110422540	nonsense	probably null
R5443:Sbf2	UTSW	7	110377928	intron	probably benign
R5457:Sbf2	UTSW	7	110312830	missense	probably benign
R5641:Sbf2	UTSW	7	110438901	missense	probably damaging	1.00
R5915:Sbf2	UTSW	7	110378096	nonsense	probably null
R5948:Sbf2	UTSW	7	110489285	missense	probably damaging	1.00
R5977:Sbf2	UTSW	7	110377986	missense	probably benign	0.00
R6052:Sbf2	UTSW	7	110441534	missense	probably damaging	1.00
R6142:Sbf2	UTSW	7	110348975	missense	probably damaging	1.00
R6327:Sbf2	UTSW	7	110441552	missense	probably damaging	1.00
R6356:Sbf2	UTSW	7	110372623	missense	probably damaging	1.00
R6450:Sbf2	UTSW	7	110462863	missense	probably damaging	1.00
R6587:Sbf2	UTSW	7	110440975	missense	probably damaging	1.00
R6696:Sbf2	UTSW	7	110560298	missense	probably benign	0.04
R6986:Sbf2	UTSW	7	110330615	missense	probably damaging	0.99
R7147:Sbf2	UTSW	7	110447061	missense	probably benign	0.01
R7358:Sbf2	UTSW	7	110399348	missense	possibly damaging	0.95
R7414:Sbf2	UTSW	7	110314064	missense	possibly damaging	0.89
R7418:Sbf2	UTSW	7	110365821	missense	probably damaging	1.00
R7423:Sbf2	UTSW	7	110438848	missense	possibly damaging	0.48
R7431:Sbf2	UTSW	7	110351750	missense	probably damaging	1.00
R7497:Sbf2	UTSW	7	110614716	nonsense	probably null
R7556:Sbf2	UTSW	7	110314053	missense	probably benign	0.20
R7604:Sbf2	UTSW	7	110378067	missense	possibly damaging	0.95
R7707:Sbf2	UTSW	7	110330713	critical splice acceptor site	probably null
R7746:Sbf2	UTSW	7	110441426	missense	probably benign	0.01
R7812:Sbf2	UTSW	7	110449963	missense	possibly damaging	0.84
R7849:Sbf2	UTSW	7	110372510	missense	probably damaging	1.00
R7932:Sbf2	UTSW	7	110372510	missense	probably damaging	1.00
R8026:Sbf2	UTSW	7	110335387	missense	not run
R8048:Sbf2	UTSW	7	110315082	missense	not run
RF005:Sbf2	UTSW	7	110317008	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGACGATGCTGTTGCTCC -3'
(R):5'- TTCCCATCATTTCCAAGAGAGTC -3'

Sequencing Primer
(F):5'- GATGCTGTTGCTCCCACTTTC -3'
(R):5'- TTTCCAAGAGAGTCAGCCTG -3'

Posted On

2019-10-07