Mutagenetix > Incidental Mutations

Incidental Mutation 'R6142:Sbf2'

488627

Institutional Source

Beutler Lab

Gene Symbol

Sbf2

Ensembl Gene

ENSMUSG00000038371

Gene Name

SET binding factor 2

Synonyms

mMTMH1, 4833411B01Rik, Mtmr13, B430219L04Rik, SBF2

MMRRC Submission

044289-MU

Accession Numbers

Genbank: NM_177324; MGI: 1921831

Is this an essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R6142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110308013-110614922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110348975 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1177 (S1177P)

Ref Sequence

ENSEMBL: ENSMUSP00000126217 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000033058
AA Change: S1223P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: S1223P

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

unknown
Transcript: ENSMUST00000164525
AA Change: S160P

SMART Domains

Protein: ENSMUSP00000128340
Gene: ENSMUSG00000038371
AA Change: S160P

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
Pfam:Myotub-related	28	217	1.5e-21	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000164599
AA Change: S108P

SMART Domains

Protein: ENSMUSP00000131927
Gene: ENSMUSG00000038371
AA Change: S108P

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	1	339	1.9e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164759
AA Change: S1223P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: S1223P

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 damaging
Transcript: ENSMUST00000166020
AA Change: S1177P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: S1177P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169740

Meta Mutation Damage Score

0.0639

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.2%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	T	C	15: 98,598,422	M579V	probably benign	Het
Agtr1b	T	C	3: 20,316,394	D16G	probably benign	Het
Akap12	C	A	10: 4,313,740		probably null	Het
Alpk2	T	C	18: 65,305,385	E979G	possibly damaging	Het
Arfgap3	T	C	15: 83,350,127	D8G	probably damaging	Het
AW551984	G	T	9: 39,597,114	L369I	probably benign	Het
Bmp8b	A	T	4: 123,115,250	H207L	probably benign	Het
Cc2d2a	G	T	5: 43,703,198	V490F	probably damaging	Het
Cnot6l	C	T	5: 96,082,978	V377I	probably benign	Het
Col25a1	T	A	3: 130,583,329		probably benign	Het
Crocc2	C	G	1: 93,190,479	Q375E	possibly damaging	Het
Ganc	T	C	2: 120,430,737		probably null	Het
Gm28168	C	A	1: 117,947,948	D102E	probably benign	Het
Gm8212	T	C	14: 44,201,227		probably null	Het
Gria2	T	C	3: 80,801,717	T53A	probably benign	Het
Hipk4	G	A	7: 27,529,165	V347M	probably damaging	Het
Hmgxb3	T	C	18: 61,136,237	E991G	probably benign	Het
Hyal1	G	A	9: 107,579,374	R420H	probably benign	Het
Il5	G	A	11: 53,720,978		probably null	Het
Kcnh7	T	C	2: 62,739,360	I731V	possibly damaging	Het
Lamb2	A	T	9: 108,485,618	K759*	probably null	Het
Lnpep	A	G	17: 17,566,681		probably null	Het
Lrch1	T	C	14: 74,947,500	E54G	probably damaging	Het
Msl3l2	A	G	10: 56,115,365	D62G	possibly damaging	Het
Mslnl	T	C	17: 25,744,557	L339P	probably damaging	Het
Nfe2l2	T	C	2: 75,679,417	I20V	probably damaging	Het
Pgm5	A	C	19: 24,824,408	I152S	probably damaging	Het
Plcg2	C	A	8: 117,585,271	T434K	probably benign	Het
Prrc2c	T	C	1: 162,710,387	E558G	unknown	Het
Ranbp3	T	C	17: 56,686,018	V12A	probably benign	Het
Rgsl1	A	G	1: 153,812,238	V635A	probably benign	Het
Rpap2	T	C	5: 107,598,298	V14A	probably benign	Het
Rxrg	G	T	1: 167,632,622	A341S	possibly damaging	Het
Sema6a	T	C	18: 47,281,199	T498A	probably benign	Het
Slc13a4	G	A	6: 35,301,783	A57V	probably damaging	Het
Slc6a3	A	T	13: 73,544,783	D174V	probably benign	Het
Spg20	T	G	3: 55,117,248	V88G	probably damaging	Het
Tanc1	A	T	2: 59,833,222	R1108*	probably null	Het
Tas2r140	C	T	6: 133,055,735	G20E	probably damaging	Het
Tdrd6	A	G	17: 43,629,482	V225A	probably benign	Het
Tmem168	C	A	6: 13,591,369	A99S	probably benign	Het
Tnk2	T	A	16: 32,670,099	D252E	probably damaging	Het
Tpsg1	A	T	17: 25,372,486	H20L	probably benign	Het
Tram1l1	T	C	3: 124,321,443	F84S	probably damaging	Het
Vmn2r12	T	A	5: 109,092,897	I117L	probably benign	Het
Zfp148	T	C	16: 33,495,459	L219S	possibly damaging	Het
Zfp40	C	A	17: 23,176,337	E425D	probably benign	Het
Zfp773	T	C	7: 7,132,482	T372A	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
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
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
R8026:Sbf2	UTSW	7	110335387	missense	probably damaging	1.00
R8048:Sbf2	UTSW	7	110315082	missense	probably benign	0.21
R8305:Sbf2	UTSW	7	110371618	missense	possibly damaging	0.79
R8337:Sbf2	UTSW	7	110441462	missense	probably benign
RF005:Sbf2	UTSW	7	110317008	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGAAACAGACCCTGCCTTTTC -3'
(R):5'- TAGTCCTGCCCTGTGCTTAG -3'

Sequencing Primer
(F):5'- ACAGACCCTGCCTTTTCAGAGG -3'
(R):5'- CCCTGTGCTTAGAAGGCTAGTC -3'

Posted On

2017-10-10