Mutagenetix > Incidental Mutations

Incidental Mutation 'R7556:Sbf2'

584771

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: 0.358) question?

Stock #

R7556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110308013-110614922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110314053 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1671 (K1671N)

Ref Sequence

ENSEMBL: ENSMUSP00000033058 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033058
AA Change: K1671N

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: K1671N

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 benign
Transcript: ENSMUST00000164759
AA Change: K1646N

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: K1646N

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

possibly damaging
Transcript: ENSMUST00000166020
AA Change: K1625N

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: K1625N

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,310,313	W11*	probably null	Het
A2ml1	A	G	6: 128,569,964	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,277,121	Y592N	probably benign	Het
Adh6b	C	T	3: 138,352,785	T76I	probably damaging	Het
Aebp2	C	A	6: 140,677,411	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,040,400	D134G		Het
Atf7ip	T	C	6: 136,561,241	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,981,566	D832G	probably benign	Het
Atrnl1	G	A	19: 57,654,846	V389I	probably benign	Het
Bahcc1	T	C	11: 120,287,763	S2383P	probably damaging	Het
BC051142	A	T	17: 34,437,717	I103F	unknown	Het
Brd9	A	G	13: 73,944,767	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,472,673	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,284,566		probably benign	Het
Cdc42ep4	C	G	11: 113,728,540	E342Q	probably damaging	Het
Celf3	C	T	3: 94,480,283	T54M	probably damaging	Het
Cenpn	T	C	8: 116,937,269	Y267H	probably damaging	Het
Chrnb4	T	C	9: 55,035,055	T312A	probably benign	Het
Clcn3	T	A	8: 60,929,487	T383S	probably damaging	Het
Cln3	T	C	7: 126,575,070	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,125,133	L50P	probably damaging	Het
Cnot6	T	C	11: 49,675,317	N512S	probably benign	Het
Col7a1	T	A	9: 108,982,465		probably null	Het
Cryba4	C	T	5: 112,251,103	R25Q	probably damaging	Het
Dnah5	A	G	15: 28,290,243	I1260V	probably null	Het
Dock2	G	T	11: 34,720,951	T195K	probably benign	Het
Dpp9	A	T	17: 56,190,012	I740N	possibly damaging	Het
Fbxl21	A	T	13: 56,526,928	N31Y	probably benign	Het
Frat1	G	A	19: 41,830,520	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,531,374	F228S		Het
Golgb1	A	T	16: 36,915,793	M1842L	probably benign	Het
Got1	A	T	19: 43,503,030	M327K	probably damaging	Het
Hexa	T	A	9: 59,563,299	L468Q	probably damaging	Het
Hist1h4i	A	G	13: 22,041,244	I27T	probably damaging	Het
Ift57	G	A	16: 49,706,128	V178I	probably benign	Het
Kbtbd13	T	C	9: 65,391,475	T60A	probably benign	Het
Klk5	A	G	7: 43,847,225	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,962,778	G16C	unknown	Het
Lamb3	T	C	1: 193,332,449	S639P	probably benign	Het
Mapt	C	A	11: 104,298,702	P182Q	probably benign	Het
Mcf2l	A	G	8: 12,973,071	T86A	probably damaging	Het
Mecom	G	T	3: 29,987,071	H125N	probably benign	Het
Med18	T	C	4: 132,459,936	H84R	probably benign	Het
Muc2	A	G	7: 141,753,702	Y798C		Het
Mycbp	T	C	4: 123,905,267	Y17H	probably damaging	Het
Nacad	C	T	11: 6,601,272	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,270,794	V1092I	probably damaging	Het
Nomo1	A	G	7: 46,066,218	E696G	probably damaging	Het
Notch4	G	A	17: 34,575,470	C741Y	probably damaging	Het
Olfr212	C	T	6: 116,516,736	Q320*	probably null	Het
Olfr978	A	G	9: 39,994,682	N291D	probably damaging	Het
Osbpl10	C	A	9: 115,207,624	H229Q	probably damaging	Het
Pif1	A	T	9: 65,589,711		probably null	Het
Plk2	T	G	13: 110,396,588		probably null	Het
Ppp1r42	T	C	1: 9,995,183	H172R	probably benign	Het
Ring1	A	G	17: 34,021,714	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,299,045	Y475D	probably damaging	Het
Sema6d	A	G	2: 124,654,189	N51S	probably damaging	Het
Setx	C	A	2: 29,146,493	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,567,965	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,865,754	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,007,442	K173*	probably null	Het
Smc2	T	C	4: 52,457,379	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,701,984	M777V	probably benign	Het
Stkld1	A	T	2: 26,947,295	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,909,031	V93A		Het
Tbx20	T	C	9: 24,750,277		probably null	Het
Trbv20	G	A	6: 41,188,781	V47I	probably benign	Het
Trip4	A	T	9: 65,874,873	C192*	probably null	Het
Tulp2	A	G	7: 45,518,581		probably null	Het
Ush2a	C	A	1: 188,957,493	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,677,831	N369K	probably benign	Het
Vmn2r59	A	T	7: 42,045,809	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,411,560		probably null	Het
Xpot	A	G	10: 121,613,506	S30P	probably benign	Het
Zfp947	T	C	17: 22,145,616	Y359C	probably benign	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
R7425:Sbf2	UTSW	7	110375777	nonsense	probably null
R7431:Sbf2	UTSW	7	110351750	missense	probably damaging	1.00
R7497:Sbf2	UTSW	7	110614716	nonsense	probably null
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	probably damaging	1.00
R8048:Sbf2	UTSW	7	110315082	missense	probably benign	0.21
RF005:Sbf2	UTSW	7	110317008	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGCATGGCTAGGTTGTGG -3'
(R):5'- TTACAGGCTGTCTAAGAGTGAAGG -3'

Sequencing Primer
(F):5'- GGCTGTAGGCTGCATCTGAC -3'
(R):5'- TCTAAGAGTGAAGGTGTTTGAGAC -3'

Posted On

2019-10-17