Incidental Mutation 'R6256:Sbf1'
ID 506141
Institutional Source Beutler Lab
Gene Symbol Sbf1
Ensembl Gene ENSMUSG00000036529
Gene Name SET binding factor 1
Synonyms B230113C15Rik, 2610510A08Rik, Mtmr5
MMRRC Submission 044373-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.558) question?
Stock # R6256 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89172439-89199514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89185070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1018 (P1018S)
Ref Sequence ENSEMBL: ENSMUSP00000118107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123791] [ENSMUST00000124576] [ENSMUST00000144585]
AlphaFold Q6ZPE2
PDB Structure Solution Structure of the C-terminal Pleckstrin Homology Domain of Sbf1 from Mouse [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000123791
AA Change: P1018S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: P1018S

DomainStartEndE-ValueType
uDENN 1 86 6.68e-31 SMART
DENN 128 310 4.05e-71 SMART
dDENN 363 432 1.28e-18 SMART
Pfam:SBF2 540 764 4.1e-110 PFAM
GRAM 882 968 3.93e-12 SMART
Pfam:Myotub-related 1100 1534 6.2e-114 PFAM
low complexity region 1614 1621 N/A INTRINSIC
low complexity region 1652 1666 N/A INTRINSIC
low complexity region 1719 1750 N/A INTRINSIC
PH 1762 1867 6.45e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124576
SMART Domains Protein: ENSMUSP00000115740
Gene: ENSMUSG00000036529

DomainStartEndE-ValueType
uDENN 1 86 6.68e-31 SMART
DENN 128 310 4.05e-71 SMART
Pfam:dDENN 363 403 4.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124642
SMART Domains Protein: ENSMUSP00000119943
Gene: ENSMUSG00000036529

DomainStartEndE-ValueType
Pfam:SBF2 1 94 1.2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144585
AA Change: P1018S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: P1018S

DomainStartEndE-ValueType
uDENN 1 86 6.68e-31 SMART
DENN 128 310 4.05e-71 SMART
dDENN 363 432 1.28e-18 SMART
Pfam:SBF2 542 764 2.3e-108 PFAM
GRAM 882 968 3.93e-12 SMART
Pfam:Myotub-related 1106 1558 5.7e-93 PFAM
low complexity region 1640 1647 N/A INTRINSIC
low complexity region 1678 1692 N/A INTRINSIC
low complexity region 1745 1776 N/A INTRINSIC
PH 1788 1893 6.45e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155146
Meta Mutation Damage Score 0.0705 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
PHENOTYPE: Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,205,272 (GRCm39) Q361L probably damaging Het
Abca7 A G 10: 79,838,456 (GRCm39) T577A probably damaging Het
Acad12 A T 5: 121,752,149 (GRCm39) V54E probably benign Het
Ago4 A G 4: 126,414,019 (GRCm39) Y91H probably damaging Het
Akr1b10 T C 6: 34,364,623 (GRCm39) V28A probably damaging Het
Ccdc33 T A 9: 58,009,201 (GRCm39) probably null Het
Ccdc7a T C 8: 129,662,074 (GRCm39) probably null Het
Ces1f A T 8: 93,992,422 (GRCm39) V343E probably damaging Het
Cftr T C 6: 18,274,660 (GRCm39) L896P probably damaging Het
Csmd3 G A 15: 47,533,125 (GRCm39) P2375S probably damaging Het
Dnajb14 C T 3: 137,614,124 (GRCm39) A345V probably damaging Het
Dnajb14 G C 3: 137,614,123 (GRCm39) A345P probably damaging Het
Dnase1 G A 16: 3,855,485 (GRCm39) R24K probably benign Het
Dnmbp C T 19: 43,840,720 (GRCm39) V560M probably damaging Het
Dop1b T A 16: 93,604,102 (GRCm39) I1981N possibly damaging Het
Eif3a A C 19: 60,759,464 (GRCm39) S770A possibly damaging Het
Fbxl7 A T 15: 26,553,088 (GRCm39) C60S probably benign Het
Fras1 A T 5: 96,881,702 (GRCm39) D2478V possibly damaging Het
Hrnr A G 3: 93,229,918 (GRCm39) D52G probably damaging Het
Jmjd1c T A 10: 67,056,187 (GRCm39) L823M probably damaging Het
Kdm1a G T 4: 136,295,911 (GRCm39) C172* probably null Het
Kdm6b C T 11: 69,297,555 (GRCm39) E295K probably damaging Het
Mepe A T 5: 104,484,940 (GRCm39) M27L probably benign Het
Mogat2 A T 7: 98,869,102 (GRCm39) H305Q probably damaging Het
Mst1r T A 9: 107,794,465 (GRCm39) Y1215N probably damaging Het
Muc5ac A T 7: 141,343,532 (GRCm39) H48L possibly damaging Het
Myo7b T C 18: 32,116,748 (GRCm39) D953G probably damaging Het
Ocel1 T C 8: 71,824,472 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,978 (GRCm39) D633G probably damaging Het
Ppm1l A G 3: 69,405,230 (GRCm39) I176V probably benign Het
Sall3 C T 18: 81,013,076 (GRCm39) R1120H possibly damaging Het
Setbp1 T C 18: 78,900,472 (GRCm39) Y1065C probably damaging Het
Slc25a2 T C 18: 37,770,776 (GRCm39) probably null Het
Slc4a2 C A 5: 24,640,888 (GRCm39) T729K probably damaging Het
Sptlc2 T C 12: 87,402,305 (GRCm39) E207G probably damaging Het
Sult6b1 A T 17: 79,214,343 (GRCm39) F27I probably benign Het
Syf2 A T 4: 134,661,889 (GRCm39) K84N probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Tmem232 G T 17: 65,785,397 (GRCm39) Q188K possibly damaging Het
Tomm70a A T 16: 56,973,055 (GRCm39) T598S probably benign Het
Ttll13 A G 7: 79,908,052 (GRCm39) T556A probably benign Het
Vmn2r120 A T 17: 57,831,700 (GRCm39) L363* probably null Het
Xpo6 G T 7: 125,707,791 (GRCm39) Q872K probably damaging Het
Xrra1 A C 7: 99,563,671 (GRCm39) S553R probably damaging Het
Zfy1 A T Y: 738,765 (GRCm39) V147E unknown Homo
Zfy2 T C Y: 2,116,267 (GRCm39) I258V probably benign Homo
Other mutations in Sbf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00265:Sbf1 APN 15 89,189,778 (GRCm39) missense probably damaging 0.98
IGL01478:Sbf1 APN 15 89,183,946 (GRCm39) missense probably damaging 0.97
IGL01533:Sbf1 APN 15 89,172,919 (GRCm39) missense probably damaging 0.99
IGL01603:Sbf1 APN 15 89,187,481 (GRCm39) missense probably damaging 1.00
IGL01758:Sbf1 APN 15 89,187,418 (GRCm39) unclassified probably benign
IGL01908:Sbf1 APN 15 89,186,929 (GRCm39) missense probably damaging 1.00
IGL02067:Sbf1 APN 15 89,173,247 (GRCm39) missense probably damaging 1.00
IGL02089:Sbf1 APN 15 89,186,708 (GRCm39) nonsense probably null
IGL02150:Sbf1 APN 15 89,179,683 (GRCm39) missense probably benign 0.00
IGL02284:Sbf1 APN 15 89,189,281 (GRCm39) missense probably damaging 1.00
IGL02367:Sbf1 APN 15 89,191,775 (GRCm39) missense probably damaging 0.99
IGL02427:Sbf1 APN 15 89,190,188 (GRCm39) unclassified probably benign
IGL03025:Sbf1 APN 15 89,173,848 (GRCm39) missense probably damaging 1.00
IGL03103:Sbf1 APN 15 89,178,150 (GRCm39) missense probably damaging 1.00
IGL03226:Sbf1 APN 15 89,173,308 (GRCm39) missense possibly damaging 0.93
IGL03376:Sbf1 APN 15 89,173,219 (GRCm39) unclassified probably benign
IGL03397:Sbf1 APN 15 89,172,924 (GRCm39) missense probably damaging 1.00
R0043:Sbf1 UTSW 15 89,179,764 (GRCm39) missense probably benign 0.26
R0139:Sbf1 UTSW 15 89,186,701 (GRCm39) missense probably damaging 1.00
R0528:Sbf1 UTSW 15 89,172,915 (GRCm39) missense probably damaging 0.99
R0624:Sbf1 UTSW 15 89,186,532 (GRCm39) missense possibly damaging 0.68
R0759:Sbf1 UTSW 15 89,188,919 (GRCm39) missense probably damaging 1.00
R1555:Sbf1 UTSW 15 89,189,279 (GRCm39) missense probably damaging 1.00
R1763:Sbf1 UTSW 15 89,178,628 (GRCm39) missense probably damaging 1.00
R2025:Sbf1 UTSW 15 89,186,933 (GRCm39) missense probably damaging 1.00
R2207:Sbf1 UTSW 15 89,190,896 (GRCm39) missense possibly damaging 0.88
R2844:Sbf1 UTSW 15 89,187,421 (GRCm39) critical splice donor site probably null
R2845:Sbf1 UTSW 15 89,187,421 (GRCm39) critical splice donor site probably null
R3788:Sbf1 UTSW 15 89,183,731 (GRCm39) nonsense probably null
R4108:Sbf1 UTSW 15 89,172,788 (GRCm39) unclassified probably benign
R4403:Sbf1 UTSW 15 89,178,157 (GRCm39) missense possibly damaging 0.94
R4605:Sbf1 UTSW 15 89,187,684 (GRCm39) missense probably damaging 1.00
R4620:Sbf1 UTSW 15 89,191,129 (GRCm39) missense probably damaging 0.99
R4666:Sbf1 UTSW 15 89,179,449 (GRCm39) missense probably damaging 1.00
R4696:Sbf1 UTSW 15 89,187,315 (GRCm39) nonsense probably null
R4697:Sbf1 UTSW 15 89,199,288 (GRCm39) missense possibly damaging 0.71
R4747:Sbf1 UTSW 15 89,186,916 (GRCm39) missense probably damaging 1.00
R5828:Sbf1 UTSW 15 89,172,837 (GRCm39) missense probably damaging 1.00
R5841:Sbf1 UTSW 15 89,192,271 (GRCm39) missense probably damaging 1.00
R6185:Sbf1 UTSW 15 89,189,814 (GRCm39) missense probably damaging 1.00
R6237:Sbf1 UTSW 15 89,177,679 (GRCm39) missense probably benign 0.29
R6490:Sbf1 UTSW 15 89,189,111 (GRCm39) missense probably benign
R6933:Sbf1 UTSW 15 89,184,572 (GRCm39) missense probably damaging 1.00
R7806:Sbf1 UTSW 15 89,189,623 (GRCm39) missense possibly damaging 0.52
R7921:Sbf1 UTSW 15 89,190,426 (GRCm39) missense probably damaging 0.96
R8005:Sbf1 UTSW 15 89,178,408 (GRCm39) missense probably damaging 0.98
R8350:Sbf1 UTSW 15 89,183,712 (GRCm39) missense probably damaging 0.99
R8450:Sbf1 UTSW 15 89,183,712 (GRCm39) missense probably damaging 0.99
R8509:Sbf1 UTSW 15 89,177,660 (GRCm39) missense probably damaging 1.00
R8753:Sbf1 UTSW 15 89,179,662 (GRCm39) missense probably benign
R8788:Sbf1 UTSW 15 89,186,062 (GRCm39) missense probably damaging 1.00
R9182:Sbf1 UTSW 15 89,173,806 (GRCm39) critical splice donor site probably null
R9516:Sbf1 UTSW 15 89,184,742 (GRCm39) missense probably damaging 1.00
R9608:Sbf1 UTSW 15 89,191,808 (GRCm39) critical splice acceptor site probably null
R9673:Sbf1 UTSW 15 89,179,675 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GCATTCTTCATCAGGTTCCGG -3'
(R):5'- GGGAGCCTGTGAACTGAATAC -3'

Sequencing Primer
(F):5'- TTCTGGGGTGTAAAAGTCCAAC -3'
(R):5'- AGCCTGTGAACTGAATACTATGG -3'
Posted On 2018-02-28