Incidental Mutation 'R0464:Sbf2'
ID 71426
Institutional Source Beutler Lab
Gene Symbol Sbf2
Ensembl Gene ENSMUSG00000038371
Gene Name SET binding factor 2
Synonyms B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1
MMRRC Submission 038664-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R0464 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 109907220-110214129 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 110063783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033058] [ENSMUST00000164759] [ENSMUST00000166020] [ENSMUST00000167652] [ENSMUST00000171218]
AlphaFold E9PXF8
Predicted Effect probably benign
Transcript: ENSMUST00000033058
SMART Domains Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000165449
Predicted Effect probably benign
Transcript: ENSMUST00000166020
SMART Domains Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000166885
SMART Domains Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371

DomainStartEndE-ValueType
DENN 2 151 1.96e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167880
Predicted Effect probably benign
Transcript: ENSMUST00000171218
SMART Domains Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371

DomainStartEndE-ValueType
uDENN 1 87 2.27e-33 SMART
DENN 116 298 5.68e-75 SMART
dDENN 351 407 1.5e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171378
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,574,884 (GRCm39) Y84* probably null Het
Adar T A 3: 89,642,889 (GRCm39) C257S possibly damaging Het
Adgrd1 G T 5: 129,239,714 (GRCm39) C507F probably damaging Het
Atp5f1a T C 18: 77,867,622 (GRCm39) Y299H probably benign Het
Bok G T 1: 93,621,935 (GRCm39) R77L probably damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Ceacam1 A G 7: 25,171,442 (GRCm39) S341P possibly damaging Het
Cfhr3 A T 1: 139,521,683 (GRCm39) noncoding transcript Het
Ckap5 A G 2: 91,409,858 (GRCm39) I947V probably benign Het
Clec2i T C 6: 128,872,386 (GRCm39) Y173H probably damaging Het
Cttnbp2 T C 6: 18,408,690 (GRCm39) D977G possibly damaging Het
Cyp2f2 C A 7: 26,831,962 (GRCm39) Q406K probably benign Het
Ddx28 A G 8: 106,736,685 (GRCm39) S458P probably damaging Het
Dppa3 T A 6: 122,605,492 (GRCm39) probably null Het
Dusp10 C A 1: 183,801,273 (GRCm39) L347I probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fbxl15 A T 19: 46,316,951 (GRCm39) E13D probably benign Het
Fhit T A 14: 10,991,567 (GRCm38) probably benign Het
Fras1 G T 5: 96,784,662 (GRCm39) V882F probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gabbr1 C T 17: 37,361,726 (GRCm39) probably benign Het
Ganc T A 2: 120,267,175 (GRCm39) V497D probably benign Het
Glt8d2 T G 10: 82,490,564 (GRCm39) H242P possibly damaging Het
Gna15 T C 10: 81,348,338 (GRCm39) Y131C probably benign Het
Gpatch8 T C 11: 102,371,712 (GRCm39) K609E unknown Het
Gprc5a A T 6: 135,056,413 (GRCm39) K287* probably null Het
Iqub T A 6: 24,479,262 (GRCm39) K427* probably null Het
Itpr2 C G 6: 146,277,387 (GRCm39) D666H probably damaging Het
Kcnj5 T C 9: 32,234,269 (GRCm39) I15M possibly damaging Het
Kcnn2 A G 18: 45,693,426 (GRCm39) E334G probably damaging Het
Lypd6 T A 2: 50,080,690 (GRCm39) I126N probably damaging Het
Ms4a20 A G 19: 11,089,801 (GRCm39) L28P probably damaging Het
Mtus1 T C 8: 41,455,511 (GRCm39) D56G probably damaging Het
Myo1h A G 5: 114,498,571 (GRCm39) D889G probably damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Nab1 T C 1: 52,529,174 (GRCm39) D241G possibly damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ncbp3 C T 11: 72,960,647 (GRCm39) probably benign Het
Nek1 T A 8: 61,525,307 (GRCm39) probably benign Het
Nf1 T C 11: 79,447,615 (GRCm39) V2452A probably benign Het
Nlrp1b A C 11: 71,109,070 (GRCm39) S144A probably damaging Het
Npr2 A T 4: 43,640,597 (GRCm39) probably null Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC "TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC" X: 142,526,889 (GRCm39) probably benign Het
Paox T A 7: 139,709,195 (GRCm39) probably benign Het
Pcdh15 T A 10: 74,462,676 (GRCm39) probably null Het
Pde8b G A 13: 95,241,206 (GRCm39) T202M probably damaging Het
Pigo A T 4: 43,019,814 (GRCm39) V905D probably benign Het
Pik3cb A G 9: 98,926,796 (GRCm39) probably null Het
Rassf5 T C 1: 131,139,998 (GRCm39) N87S probably benign Het
Rbl1 C A 2: 156,989,465 (GRCm39) K1051N probably damaging Het
Rfx7 T C 9: 72,525,486 (GRCm39) V892A probably damaging Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rnf144b T A 13: 47,396,363 (GRCm39) Y233* probably null Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sgo2a A T 1: 58,039,253 (GRCm39) K85N probably damaging Het
Siglec1 A T 2: 130,921,279 (GRCm39) C631S probably damaging Het
Simc1 C T 13: 54,684,913 (GRCm39) R50* probably null Het
Skint5 T A 4: 113,392,928 (GRCm39) M1235L unknown Het
Slc22a19 A T 19: 7,660,278 (GRCm39) N377K probably benign Het
Spata31d1a A G 13: 59,849,573 (GRCm39) F852L possibly damaging Het
Spata31e3 A G 13: 50,402,311 (GRCm39) probably benign Het
Srbd1 G A 17: 86,427,430 (GRCm39) S401F probably damaging Het
Stk36 C A 1: 74,650,331 (GRCm39) Q288K probably damaging Het
Styx T C 14: 45,609,908 (GRCm39) S191P probably benign Het
Supt6 T A 11: 78,107,164 (GRCm39) N1214I probably benign Het
Tcim T A 8: 24,928,644 (GRCm39) D90V probably damaging Het
Tdpoz1 T A 3: 93,578,782 (GRCm39) M1L probably damaging Het
Tep1 T A 14: 51,085,141 (GRCm39) T881S probably benign Het
Tlr5 C T 1: 182,801,275 (GRCm39) A193V probably benign Het
Tmem117 T A 15: 94,612,800 (GRCm39) F112Y probably damaging Het
Tnrc6c C T 11: 117,651,375 (GRCm39) R1633W probably damaging Het
Trh T C 6: 92,220,649 (GRCm39) probably null Het
Triobp A G 15: 78,851,186 (GRCm39) R447G possibly damaging Het
Trip6 A G 5: 137,311,943 (GRCm39) F46S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Usp33 T C 3: 152,081,872 (GRCm39) probably benign Het
Vmn2r60 A T 7: 41,785,255 (GRCm39) I156F probably damaging Het
Wdr17 T C 8: 55,123,427 (GRCm39) probably benign Het
Wdr35 G T 12: 9,077,472 (GRCm39) probably benign Het
Wwp1 C T 4: 19,638,763 (GRCm39) probably benign Het
Zfp652 T C 11: 95,654,475 (GRCm39) C293R probably damaging Het
Other mutations in Sbf2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5457:Sbf2 UTSW 7 109,912,037 (GRCm39) missense 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'- TGCTTTCATCCAACACAAATCTGCTTTT -3'
(R):5'- AACACTCAAAGTTGGTGTTCATACCTGT -3'

Sequencing Primer
(F):5'- CAACACAAATCTGCTTTTTCATGTC -3'
(R):5'- GCTTTGAAAACACATGAAACAAATAC -3'
Posted On 2013-09-30