Incidental Mutation 'R8026:Sbf2'
ID 617711
Institutional Source Beutler Lab
Gene Symbol Sbf2
Ensembl Gene ENSMUSG00000038371
Gene Name SET binding factor 2
Synonyms B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1
MMRRC Submission 067465-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R8026 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 109907220-110214129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109934594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1377 (K1377E)
Ref Sequence ENSEMBL: ENSMUSP00000033058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033058] [ENSMUST00000164759] [ENSMUST00000166020]
AlphaFold E9PXF8
Predicted Effect probably damaging
Transcript: ENSMUST00000033058
AA Change: K1377E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: K1377E

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
SMART Domains Protein: ENSMUSP00000131927
Gene: ENSMUSG00000038371
AA Change: K269E

DomainStartEndE-ValueType
Pfam:Myotub-related 1 339 1.9e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164759
AA Change: K1352E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: K1352E

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 probably damaging
Transcript: ENSMUST00000166020
AA Change: K1331E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: K1331E

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
Meta Mutation Damage Score 0.2423 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,611,723 (GRCm39) V513A probably damaging Het
Acsf2 C T 11: 94,453,714 (GRCm39) V416M probably damaging Het
Adrm1 G A 2: 179,817,002 (GRCm39) A225T unknown Het
Aldh9a1 T C 1: 167,180,236 (GRCm39) probably null Het
Apbb2 T C 5: 66,608,987 (GRCm39) D220G probably benign Het
Bace2 T C 16: 97,238,052 (GRCm39) V501A probably benign Het
Camsap1 T C 2: 25,828,214 (GRCm39) N1170S probably benign Het
Casr A G 16: 36,315,979 (GRCm39) V697A probably damaging Het
Clcn1 T C 6: 42,284,595 (GRCm39) probably null Het
Cobl T C 11: 12,203,459 (GRCm39) K1081R probably benign Het
Ctr9 T A 7: 110,633,099 (GRCm39) L116I probably damaging Het
Dennd4a T C 9: 64,780,312 (GRCm39) F616S probably damaging Het
Dynlt1a C T 17: 6,362,089 (GRCm39) G30S possibly damaging Het
Eif1 T C 11: 100,211,274 (GRCm39) S23P possibly damaging Het
Eml6 A C 11: 29,699,973 (GRCm39) L1721R possibly damaging Het
Fscb A G 12: 64,521,049 (GRCm39) I139T probably benign Het
Fstl4 A G 11: 52,959,496 (GRCm39) E179G probably damaging Het
Fuom T C 7: 139,680,067 (GRCm39) T95A Het
Gigyf1 C T 5: 137,523,740 (GRCm39) H1001Y probably damaging Het
Gm21886 T A 18: 80,132,961 (GRCm39) S66C probably damaging Het
Helz2 G A 2: 180,881,998 (GRCm39) T265I probably benign Het
Hs6st3 G T 14: 120,106,968 (GRCm39) V459F probably damaging Het
Ido2 A G 8: 25,025,156 (GRCm39) probably null Het
Idua A G 5: 108,818,115 (GRCm39) I96V probably benign Het
Iftap A T 2: 101,400,989 (GRCm39) probably benign Het
Inpp5j A G 11: 3,445,171 (GRCm39) S494P Het
Krt19 A G 11: 100,032,209 (GRCm39) V285A probably damaging Het
Krt71 T G 15: 101,646,817 (GRCm39) D297A possibly damaging Het
L3hypdh G A 12: 72,131,723 (GRCm39) R70C probably damaging Het
Masp1 T C 16: 23,303,156 (GRCm39) Y324C probably damaging Het
Mfap2 A G 4: 140,741,114 (GRCm39) D25G possibly damaging Het
Mmp17 G A 5: 129,672,148 (GRCm39) probably null Het
Mroh7 G A 4: 106,578,634 (GRCm39) P15S probably benign Het
Muc5b T A 7: 141,417,373 (GRCm39) C3440S probably benign Het
Naip5 C A 13: 100,382,406 (GRCm39) S101I probably damaging Het
Neb A T 2: 52,113,060 (GRCm39) Y1066N Het
Nop56 T A 2: 130,119,188 (GRCm39) C38S probably benign Het
Nup214 T A 2: 31,923,362 (GRCm39) L1297Q possibly damaging Het
Oasl2 C A 5: 115,040,329 (GRCm39) probably benign Het
Or4a70 A G 2: 89,324,132 (GRCm39) F175L probably damaging Het
Or4c58 T C 2: 89,675,273 (GRCm39) N15D probably benign Het
Or51b4 A G 7: 103,530,904 (GRCm39) V182A possibly damaging Het
Or52a5 T A 7: 103,427,547 (GRCm39) I2F probably benign Het
Or5h24 T C 16: 58,918,731 (GRCm39) H208R unknown Het
Or8g4 T C 9: 39,662,092 (GRCm39) S137P possibly damaging Het
Pacrg C T 17: 10,795,496 (GRCm39) V155I probably benign Het
Patz1 A T 11: 3,257,658 (GRCm39) M96L probably benign Het
Pcca A G 14: 122,875,794 (GRCm39) D141G probably benign Het
Ptprr A G 10: 115,884,075 (GRCm39) Y44C probably damaging Het
Rad51ap1 A G 6: 126,911,675 (GRCm39) probably null Het
Raet1e A C 10: 22,057,198 (GRCm39) D174A probably damaging Het
Rhobtb2 T G 14: 70,034,214 (GRCm39) D337A probably benign Het
Sh3pxd2b A G 11: 32,361,567 (GRCm39) K260E probably damaging Het
Slc4a8 A T 15: 100,685,170 (GRCm39) I234F possibly damaging Het
Srgap3 C T 6: 112,716,325 (GRCm39) R625H probably benign Het
Tbxas1 C T 6: 39,004,830 (GRCm39) T359I probably benign Het
Trim9 T A 12: 70,337,161 (GRCm39) S309C probably benign Het
Ttn G A 2: 76,659,483 (GRCm39) P12191S unknown Het
Unc80 A G 1: 66,522,463 (GRCm39) R222G possibly damaging Het
Vmn1r202 A T 13: 22,686,314 (GRCm39) H34Q possibly damaging Het
Vmn2r61 T A 7: 41,916,141 (GRCm39) N251K probably benign Het
Vmn2r67 A T 7: 84,785,924 (GRCm39) Y694N probably damaging Het
Vwde A G 6: 13,205,782 (GRCm39) F255S probably benign Het
Zfp532 T G 18: 65,758,227 (GRCm39) I720R possibly damaging Het
Zfp819 A G 7: 43,267,319 (GRCm39) T601A probably benign Het
Zfp853 G T 5: 143,274,280 (GRCm39) Q462K unknown 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
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
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
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'- GCCTTTACAGAGGGCACATG -3'
(R):5'- GGCATCAAATGAGTGTCGAC -3'

Sequencing Primer
(F):5'- CTTTACAGAGGGCACATGACGAAG -3'
(R):5'- GACTACTAAGCATTTCCCTGGGG -3'
Posted On 2020-01-23