Mutagenetix > Incidental Mutation

Incidental Mutation 'R5457:Sbf2'

432819

Institutional Source

Beutler Lab

Gene Symbol

Sbf2

Ensembl Gene

ENSMUSG00000038371

Gene Name

SET binding factor 2

Synonyms

B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1

MMRRC Submission

043020-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R5457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109907220-110214129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109912037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1670 (T1670A)

Ref Sequence

ENSEMBL: ENSMUSP00000126217 (fasta)

Gene Model

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

AlphaFold

E9PXF8

Predicted Effect

probably benign
Transcript: ENSMUST00000033058
AA Change: T1716A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: T1716A

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: T1691A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: T1691A

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 benign
Transcript: ENSMUST00000166020
AA Change: T1670A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: T1670A

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	A	8: 87,236,473 (GRCm39)	V1114L	probably benign	Het
Actr5	G	A	2: 158,477,918 (GRCm39)		probably null	Het
Adcy7	T	C	8: 89,037,649 (GRCm39)	L239P	probably damaging	Het
Afg3l1	T	A	8: 124,216,707 (GRCm39)	F315L	possibly damaging	Het
Agps	A	G	2: 75,684,596 (GRCm39)	Y188C	probably benign	Het
Akt1	T	C	12: 112,623,525 (GRCm39)	T312A	probably damaging	Het
Ang2	T	C	14: 51,433,292 (GRCm39)	Y30C	probably damaging	Het
Angpt1	G	A	15: 42,386,916 (GRCm39)	T146I	probably damaging	Het
Atg16l1	T	C	1: 87,702,813 (GRCm39)	S288P	probably damaging	Het
Atp1b2	C	T	11: 69,493,558 (GRCm39)	G4R	probably damaging	Het
Best3	T	C	10: 116,840,416 (GRCm39)	F282S	probably damaging	Het
Cdkn2b	A	G	4: 89,225,391 (GRCm39)	L98P	probably damaging	Het
Cenps	A	G	4: 149,216,094 (GRCm39)		probably null	Het
Clec16a	G	T	16: 10,363,396 (GRCm39)		probably null	Het
Cxcl13	A	T	5: 96,104,830 (GRCm39)	M1L	unknown	Het
Dcun1d4	A	T	5: 73,688,908 (GRCm39)	E149D	probably damaging	Het
Dlst	G	A	12: 85,168,914 (GRCm39)		probably null	Het
Dock10	C	A	1: 80,501,781 (GRCm39)	C1803F	probably damaging	Het
Dpp10	T	A	1: 123,339,539 (GRCm39)	K329N	possibly damaging	Het
Drosha	T	G	15: 12,926,115 (GRCm39)	Y1235D	probably benign	Het
Eif2s3y	G	A	Y: 1,016,057 (GRCm39)	G213D	probably damaging	Homo
Eps8	A	T	6: 137,489,175 (GRCm39)	S408T	probably damaging	Het
Fam171a2	T	C	11: 102,328,362 (GRCm39)	D799G	possibly damaging	Het
Fcho2	T	C	13: 98,926,275 (GRCm39)	K103E	probably damaging	Het
Fcrlb	T	C	1: 170,739,726 (GRCm39)	T59A	probably damaging	Het
Fgd4	T	C	16: 16,279,873 (GRCm39)	R395G	probably benign	Het
Gm14496	A	T	2: 181,639,401 (GRCm39)	D497V	probably damaging	Het
Gpt2	A	C	8: 86,238,967 (GRCm39)	N267H	possibly damaging	Het
Grb14	A	T	2: 64,747,442 (GRCm39)	C43S	probably damaging	Het
Hjurp	T	TN	1: 88,194,247 (GRCm39)		probably null	Het
Igkv8-16	A	G	6: 70,363,689 (GRCm39)	V111A	possibly damaging	Het
Klra2	T	A	6: 131,198,852 (GRCm39)	S230C	possibly damaging	Het
Lamb3	G	A	1: 193,008,302 (GRCm39)	R245H	probably damaging	Het
Lamc3	A	G	2: 31,821,997 (GRCm39)	E1315G	probably benign	Het
Lpin2	A	G	17: 71,550,367 (GRCm39)	T672A	probably damaging	Het
Mcoln3	T	A	3: 145,833,877 (GRCm39)	I139N	probably benign	Het
Mcpt8	C	T	14: 56,319,793 (GRCm39)	C219Y	probably benign	Het
Mtcl3	A	C	10: 29,072,720 (GRCm39)	I671L	probably benign	Het
Mug2	G	T	6: 122,026,688 (GRCm39)	G541*	probably null	Het
Myo7b	G	T	18: 32,104,503 (GRCm39)		probably null	Het
Or10j2	C	T	1: 173,098,141 (GRCm39)	S133L	probably benign	Het
Or10j7	A	G	1: 173,011,180 (GRCm39)	S274P	probably damaging	Het
Or5ac22	T	C	16: 59,135,213 (GRCm39)	I186V	probably benign	Het
Or5k8	A	T	16: 58,644,796 (GRCm39)	I92N	probably damaging	Het
Or7e176	A	T	9: 20,171,574 (GRCm39)	Y146F	probably damaging	Het
Pclo	C	T	5: 14,726,157 (GRCm39)		probably benign	Het
Pdk2	C	T	11: 94,919,408 (GRCm39)	S289N	probably damaging	Het
Pex19	G	T	1: 171,958,245 (GRCm39)	G75W	probably damaging	Het
Psma3	T	G	12: 71,031,339 (GRCm39)	S26A	probably benign	Het
Pth1r	A	T	9: 110,555,522 (GRCm39)	I326N	possibly damaging	Het
Scn10a	A	G	9: 119,523,193 (GRCm39)	Y67H	probably damaging	Het
Sec16a	A	T	2: 26,330,280 (GRCm39)	D578E	probably benign	Het
Spta1	C	T	1: 174,044,759 (GRCm39)	A1465V	probably damaging	Het
Taar9	A	G	10: 23,985,003 (GRCm39)	F144L	probably damaging	Het
Tal1	T	C	4: 114,925,777 (GRCm39)	V282A	probably benign	Het
Tbrg4	C	T	11: 6,570,947 (GRCm39)	R175Q	probably damaging	Het
Tdp1	C	T	12: 99,861,005 (GRCm39)	Q215*	probably null	Het
Thsd4	A	T	9: 59,887,060 (GRCm39)	W921R	probably damaging	Het
Trrap	A	G	5: 144,786,787 (GRCm39)	E3462G	probably damaging	Het
Try4	T	C	6: 41,280,355 (GRCm39)	S60P	probably damaging	Het
Ttn	T	C	2: 76,541,265 (GRCm39)	E25580G	probably damaging	Het
Ttn	A	T	2: 76,776,299 (GRCm39)	I1581N	possibly damaging	Het
Vmn2r50	T	C	7: 9,781,873 (GRCm39)	T291A	probably damaging	Het
Zkscan14	T	C	5: 145,138,169 (GRCm39)	D106G	probably benign	Het

Other mutations in Sbf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Sbf2	APN	7	109,975,039 (GRCm39)	splice site	probably benign
IGL01089:Sbf2	APN	7	109,948,169 (GRCm39)	missense	probably damaging	1.00
IGL01144:Sbf2	APN	7	109,929,110 (GRCm39)	missense	probably damaging	1.00
IGL01652:Sbf2	APN	7	110,046,327 (GRCm39)	missense	probably damaging	1.00
IGL01950:Sbf2	APN	7	109,965,032 (GRCm39)	missense	probably benign	0.00
IGL02027:Sbf2	APN	7	110,060,348 (GRCm39)	missense	probably damaging	1.00
IGL02244:Sbf2	APN	7	110,159,502 (GRCm39)	missense	probably damaging	1.00
IGL02376:Sbf2	APN	7	110,062,163 (GRCm39)	missense	probably damaging	0.99
IGL03405:Sbf2	APN	7	110,062,139 (GRCm39)	missense	probably damaging	0.98
N/A - 535:Sbf2	UTSW	7	109,911,959 (GRCm39)	missense	probably benign
R0084:Sbf2	UTSW	7	110,041,573 (GRCm39)	missense	possibly damaging	0.95
R0092:Sbf2	UTSW	7	109,920,013 (GRCm39)	splice site	probably benign
R0121:Sbf2	UTSW	7	110,088,426 (GRCm39)	critical splice donor site	probably null
R0464:Sbf2	UTSW	7	110,063,783 (GRCm39)	splice site	probably benign
R0505:Sbf2	UTSW	7	109,998,550 (GRCm39)	missense	probably damaging	1.00
R0531:Sbf2	UTSW	7	109,966,530 (GRCm39)	splice site	probably benign
R0554:Sbf2	UTSW	7	110,027,494 (GRCm39)	missense	probably damaging	1.00
R0617:Sbf2	UTSW	7	109,929,890 (GRCm39)	frame shift	probably null
R0619:Sbf2	UTSW	7	109,909,469 (GRCm39)	missense	possibly damaging	0.87
R0799:Sbf2	UTSW	7	109,940,562 (GRCm39)	missense	possibly damaging	0.58
R0898:Sbf2	UTSW	7	109,970,859 (GRCm39)	missense	possibly damaging	0.59
R1077:Sbf2	UTSW	7	109,966,379 (GRCm39)	splice site	probably benign
R1167:Sbf2	UTSW	7	109,963,756 (GRCm39)	missense	probably damaging	1.00
R1169:Sbf2	UTSW	7	109,909,391 (GRCm39)	missense	probably benign	0.04
R1424:Sbf2	UTSW	7	109,914,233 (GRCm39)	missense	probably damaging	1.00
R1536:Sbf2	UTSW	7	109,977,250 (GRCm39)	missense	probably damaging	1.00
R1558:Sbf2	UTSW	7	110,027,553 (GRCm39)	missense	probably damaging	1.00
R1601:Sbf2	UTSW	7	109,939,283 (GRCm39)	critical splice acceptor site	probably null
R1762:Sbf2	UTSW	7	109,911,965 (GRCm39)	missense	probably benign
R1771:Sbf2	UTSW	7	110,060,353 (GRCm39)	nonsense	probably null
R1989:Sbf2	UTSW	7	109,948,130 (GRCm39)	missense	possibly damaging	0.94
R2109:Sbf2	UTSW	7	110,060,419 (GRCm39)	missense	probably damaging	1.00
R2126:Sbf2	UTSW	7	110,159,502 (GRCm39)	missense	probably damaging	1.00
R2444:Sbf2	UTSW	7	109,929,905 (GRCm39)	missense	probably benign	0.31
R3765:Sbf2	UTSW	7	109,974,788 (GRCm39)	missense	probably damaging	1.00
R3808:Sbf2	UTSW	7	110,088,487 (GRCm39)	makesense	probably null
R3895:Sbf2	UTSW	7	110,046,298 (GRCm39)	missense	probably damaging	0.99
R3978:Sbf2	UTSW	7	109,929,092 (GRCm39)	missense	probably benign	0.00
R4056:Sbf2	UTSW	7	110,040,673 (GRCm39)	missense	probably damaging	0.99
R4057:Sbf2	UTSW	7	110,040,673 (GRCm39)	missense	probably damaging	0.99
R4111:Sbf2	UTSW	7	110,027,449 (GRCm39)	missense	probably damaging	1.00
R4569:Sbf2	UTSW	7	109,948,060 (GRCm39)	critical splice donor site	probably null
R4670:Sbf2	UTSW	7	109,934,606 (GRCm39)	missense	probably damaging	1.00
R4763:Sbf2	UTSW	7	110,020,124 (GRCm39)	missense	probably damaging	1.00
R4792:Sbf2	UTSW	7	109,950,817 (GRCm39)	missense	probably damaging	0.98
R4811:Sbf2	UTSW	7	109,971,742 (GRCm39)	missense	probably damaging	1.00
R4822:Sbf2	UTSW	7	109,977,146 (GRCm39)	intron	probably benign
R5110:Sbf2	UTSW	7	109,963,864 (GRCm39)	missense	probably benign	0.10
R5143:Sbf2	UTSW	7	110,021,747 (GRCm39)	nonsense	probably null
R5443:Sbf2	UTSW	7	109,977,135 (GRCm39)	intron	probably benign
R5641:Sbf2	UTSW	7	110,038,108 (GRCm39)	missense	probably damaging	1.00
R5915:Sbf2	UTSW	7	109,977,303 (GRCm39)	nonsense	probably null
R5948:Sbf2	UTSW	7	110,088,492 (GRCm39)	missense	probably damaging	1.00
R5977:Sbf2	UTSW	7	109,977,193 (GRCm39)	missense	probably benign	0.00
R6052:Sbf2	UTSW	7	110,040,741 (GRCm39)	missense	probably damaging	1.00
R6142:Sbf2	UTSW	7	109,948,182 (GRCm39)	missense	probably damaging	1.00
R6327:Sbf2	UTSW	7	110,040,759 (GRCm39)	missense	probably damaging	1.00
R6356:Sbf2	UTSW	7	109,971,830 (GRCm39)	missense	probably damaging	1.00
R6450:Sbf2	UTSW	7	110,062,070 (GRCm39)	missense	probably damaging	1.00
R6587:Sbf2	UTSW	7	110,040,182 (GRCm39)	missense	probably damaging	1.00
R6696:Sbf2	UTSW	7	110,159,505 (GRCm39)	missense	probably benign	0.04
R6986:Sbf2	UTSW	7	109,929,822 (GRCm39)	missense	probably damaging	0.99
R7147:Sbf2	UTSW	7	110,046,268 (GRCm39)	missense	probably benign	0.01
R7358:Sbf2	UTSW	7	109,998,555 (GRCm39)	missense	possibly damaging	0.95
R7414:Sbf2	UTSW	7	109,913,271 (GRCm39)	missense	possibly damaging	0.89
R7418:Sbf2	UTSW	7	109,965,028 (GRCm39)	missense	probably damaging	1.00
R7423:Sbf2	UTSW	7	110,038,055 (GRCm39)	missense	possibly damaging	0.48
R7425:Sbf2	UTSW	7	109,974,984 (GRCm39)	nonsense	probably null
R7431:Sbf2	UTSW	7	109,950,957 (GRCm39)	missense	probably damaging	1.00
R7497:Sbf2	UTSW	7	110,213,923 (GRCm39)	nonsense	probably null
R7556:Sbf2	UTSW	7	109,913,260 (GRCm39)	missense	probably benign	0.20
R7604:Sbf2	UTSW	7	109,977,274 (GRCm39)	missense	possibly damaging	0.95
R7707:Sbf2	UTSW	7	109,929,920 (GRCm39)	critical splice acceptor site	probably null
R7746:Sbf2	UTSW	7	110,040,633 (GRCm39)	missense	probably benign	0.01
R7812:Sbf2	UTSW	7	110,049,170 (GRCm39)	missense	possibly damaging	0.84
R7849:Sbf2	UTSW	7	109,971,717 (GRCm39)	missense	probably damaging	1.00
R8026:Sbf2	UTSW	7	109,934,594 (GRCm39)	missense	probably damaging	1.00
R8048:Sbf2	UTSW	7	109,914,289 (GRCm39)	missense	probably benign	0.21
R8305:Sbf2	UTSW	7	109,970,825 (GRCm39)	missense	possibly damaging	0.79
R8337:Sbf2	UTSW	7	110,040,669 (GRCm39)	missense	probably benign
R8773:Sbf2	UTSW	7	109,948,202 (GRCm39)	missense	probably benign
R8786:Sbf2	UTSW	7	110,063,793 (GRCm39)	critical splice donor site	probably null
R8812:Sbf2	UTSW	7	109,929,069 (GRCm39)	missense	probably damaging	1.00
R8876:Sbf2	UTSW	7	110,049,146 (GRCm39)	missense	probably damaging	0.99
R8932:Sbf2	UTSW	7	110,040,155 (GRCm39)	critical splice donor site	probably null
R8954:Sbf2	UTSW	7	110,038,118 (GRCm39)	nonsense	probably null
R8991:Sbf2	UTSW	7	109,911,896 (GRCm39)	missense	probably benign	0.20
R9119:Sbf2	UTSW	7	109,911,292 (GRCm39)	missense	possibly damaging	0.93
R9310:Sbf2	UTSW	7	109,914,292 (GRCm39)	missense	possibly damaging	0.58
R9344:Sbf2	UTSW	7	109,940,535 (GRCm39)	missense	probably benign	0.10
R9346:Sbf2	UTSW	7	109,919,946 (GRCm39)	missense	probably benign	0.05
R9404:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9406:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9408:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9472:Sbf2	UTSW	7	109,970,798 (GRCm39)	missense	possibly damaging	0.88
R9554:Sbf2	UTSW	7	110,040,671 (GRCm39)	missense	probably damaging	1.00
R9562:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9624:Sbf2	UTSW	7	109,963,857 (GRCm39)	missense	probably damaging	1.00
R9652:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9653:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9709:Sbf2	UTSW	7	110,027,514 (GRCm39)	missense	probably damaging	0.99
RF005:Sbf2	UTSW	7	109,916,215 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAATCCATCCTGAGTGGGG -3'
(R):5'- GTCTTTGTACACATGCTGGC -3'

Sequencing Primer
(F):5'- TGCTTAGGCTAACACCATGG -3'
(R):5'- GTACACATGCTGGCTCACTAGTAAG -3'

Posted On

2016-10-06