Mutagenetix > Incidental Mutations

Incidental Mutation 'R1989:Sbf2'

223033

Institutional Source

Beutler Lab

Gene Symbol

Sbf2

Ensembl Gene

ENSMUSG00000038371

Gene Name

SET binding factor 2

Synonyms

mMTMH1, 4833411B01Rik, Mtmr13, B430219L04Rik, SBF2

MMRRC Submission

040001-MU

Accession Numbers

Genbank: NM_177324; MGI: 1921831

Is this an essential gene?

Possibly non essential (E-score: 0.474) question?

Stock #

R1989 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110308013-110614922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110348923 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1194 (V1194A)

Ref Sequence

ENSEMBL: ENSMUSP00000126217 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033058
AA Change: V1240A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: V1240A

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: ENSMUST00000164525
AA Change: V177A

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128340
Gene: ENSMUSG00000038371
AA Change: V177A

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

probably benign
Transcript: ENSMUST00000164599
AA Change: V125A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000131927
Gene: ENSMUSG00000038371
AA Change: V125A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164759
AA Change: V1240A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: V1240A

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: V1194A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: V1194A

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,896	D216V	possibly damaging	Het
Acaca	T	C	11: 84,262,529	M921T	probably damaging	Het
Actn2	A	T	13: 12,340,395	W36R	probably benign	Het
Adcy9	A	T	16: 4,298,727	V643D	probably damaging	Het
Agbl4	A	T	4: 111,566,682	T302S	possibly damaging	Het
Akap13	A	G	7: 75,704,516	N1795S	probably benign	Het
Ang	T	A	14: 51,101,551	C50S	probably damaging	Het
Anxa13	T	A	15: 58,341,948		noncoding transcript	Het
Asxl3	T	C	18: 22,452,363	V115A	probably damaging	Het
B4galt5	A	T	2: 167,305,003	W304R	probably damaging	Het
Bptf	T	C	11: 107,074,826	K1118E	probably damaging	Het
Cacna1b	T	C	2: 24,721,374	Y335C	probably damaging	Het
Catsperb	A	T	12: 101,602,711	I881F	probably damaging	Het
Chrm5	A	G	2: 112,480,252	V173A	probably damaging	Het
Cyfip2	A	T	11: 46,253,998	Y676*	probably null	Het
Cyp2f2	A	G	7: 27,129,203	D90G	probably damaging	Het
Cyr61	A	T	3: 145,647,743	Y355N	probably benign	Het
Dnah5	T	C	15: 28,343,591	I2379T	probably damaging	Het
E2f8	T	C	7: 48,873,280	E349G	probably benign	Het
Ebf1	T	C	11: 44,621,966	M134T	probably damaging	Het
Fn1	T	C	1: 71,651,625	H59R	probably damaging	Het
Focad	T	C	4: 88,232,784		probably null	Het
Gabra1	A	T	11: 42,155,015	D89E	probably damaging	Het
Hip1r	G	T	5: 123,989,698	V90F	probably damaging	Het
Ifi213	C	A	1: 173,568,808		probably null	Het
Kcnj9	A	G	1: 172,326,149	I136T	probably benign	Het
Kmt2c	A	G	5: 25,498,544	S3P	possibly damaging	Het
Lrrc4b	GAGAAG	GAG	7: 44,462,230		probably benign	Het
Lrrk1	G	A	7: 66,281,684	S43L	probably damaging	Het
Macf1	A	G	4: 123,497,726		probably null	Het
Mad1l1	A	G	5: 140,303,670	S167P	probably benign	Het
Maml3	G	T	3: 51,697,758	A64D	probably damaging	Het
Mgat4c	T	C	10: 102,378,159	M1T	probably null	Het
Mkrn2os	G	T	6: 115,589,350	T88K	probably damaging	Het
Mob3c	T	C	4: 115,831,557	Y96H	probably damaging	Het
Mpo	T	A	11: 87,803,472	I96N	probably damaging	Het
Mup17	T	A	4: 61,593,623	Y138F	probably benign	Het
Myh8	A	G	11: 67,292,724	I754V	probably benign	Het
Naa30	T	A	14: 49,178,140	L289*	probably null	Het
Nap1l4	A	C	7: 143,527,184	F292V	probably damaging	Het
Nek5	T	A	8: 22,111,169	N129Y	probably damaging	Het
Nlrp9a	A	G	7: 26,573,913	E880G	probably benign	Het
Nsun6	G	T	2: 15,038,184	N155K	probably benign	Het
Olfr1189	T	A	2: 88,592,599	I265K	probably damaging	Het
Olfr1318	T	A	2: 112,156,377	I142N	probably benign	Het
Olfr170	A	T	16: 19,606,657	Y4N	probably benign	Het
Olfr467	A	T	7: 107,814,700	I39L	probably benign	Het
Olfr600	T	A	7: 103,346,109	Y273F	possibly damaging	Het
Olfr622	A	T	7: 103,639,495	I215K	probably damaging	Het
Olfr930	T	C	9: 38,930,875	S235P	possibly damaging	Het
Palm3	G	A	8: 84,030,022	S721N	possibly damaging	Het
Ppp2r5d	C	T	17: 46,684,099	V559M	probably benign	Het
Ptgfr	A	T	3: 151,835,339	Y177*	probably null	Het
Rnase10	A	T	14: 51,009,638	I121L	probably benign	Het
Sall2	G	A	14: 52,314,439	P431L	probably damaging	Het
Scimp	T	C	11: 70,791,576	K105E	possibly damaging	Het
Scrt2	A	T	2: 152,082,087	D13V	probably damaging	Het
Snx19	A	G	9: 30,428,108	S181G	possibly damaging	Het
Spata2	G	A	2: 167,484,314	T195M	possibly damaging	Het
Sptbn4	A	G	7: 27,367,702	V614A	probably damaging	Het
Srpk2	G	A	5: 23,518,423	A565V	probably damaging	Het
Stard9	A	G	2: 120,701,406	I2715V	probably benign	Het
Sval1	A	G	6: 41,955,491	T92A	possibly damaging	Het
Synrg	T	C	11: 84,019,955		probably null	Het
Tlr12	T	C	4: 128,617,069	T463A	probably benign	Het
Tnxb	A	G	17: 34,683,377	H945R	probably benign	Het
Tnxb	A	T	17: 34,693,885	D1791V	probably damaging	Het
Topaz1	C	T	9: 122,750,125	T700I	possibly damaging	Het
Trappc8	A	G	18: 20,845,651	V796A	probably benign	Het
Trpm1	A	T	7: 64,209,032		probably null	Het
Ttll4	G	T	1: 74,685,368	V566L	possibly damaging	Het
Ttn	T	A	2: 76,750,941	N23203Y	probably damaging	Het
Ttn	A	T	2: 76,770,787	Y18781N	probably damaging	Het
Tuba3a	T	C	6: 125,281,253	N258S	probably damaging	Het
Upk1b	A	T	16: 38,784,241	W141R	possibly damaging	Het
Vars	T	C	17: 35,011,838	F567L	possibly damaging	Het
Vcpip1	G	C	1: 9,745,563	A865G	probably benign	Het
Vmn2r22	A	T	6: 123,637,541	F363L	probably damaging	Het
Vmn2r66	A	T	7: 85,011,993	F10I	probably benign	Het
Wbp2	C	T	11: 116,080,221		probably null	Het
Yy1	T	C	12: 108,806,608	L270P	probably damaging	Het
Zan	A	T	5: 137,420,006	C2943*	probably null	Het
Zfp51	T	A	17: 21,456,320	Y18N	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
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
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
R8773:Sbf2	UTSW	7	110348995	missense	probably benign
RF005:Sbf2	UTSW	7	110317008	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACATTAACAGTGGTGCTTTG -3'
(R):5'- TGTATTGAAACCAGCATCAAAAGGC -3'

Sequencing Primer
(F):5'- AAGCTCAAGTTATGGTCTTTCATGG -3'
(R):5'- GGCAAGCCACAGAATACATTTAACG -3'

Posted On

2014-08-25