Incidental Mutation 'R0528:Sbf1'
ID 49018
Institutional Source Beutler Lab
Gene Symbol Sbf1
Ensembl Gene ENSMUSG00000036529
Gene Name SET binding factor 1
Synonyms B230113C15Rik, 2610510A08Rik, Mtmr5
MMRRC Submission 038720-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.558) question?
Stock # R0528 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89172439-89199514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89172915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1840 (R1840H)
Ref Sequence ENSEMBL: ENSMUSP00000120725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088788] [ENSMUST00000123791] [ENSMUST00000124576] [ENSMUST00000144585] [ENSMUST00000228284]
AlphaFold Q6ZPE2
Predicted Effect probably benign
Transcript: ENSMUST00000088788
SMART Domains Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561

DomainStartEndE-ValueType
Pfam:SAPS 128 365 1.7e-73 PFAM
Pfam:SAPS 361 534 2.4e-47 PFAM
low complexity region 606 618 N/A INTRINSIC
low complexity region 788 802 N/A INTRINSIC
low complexity region 867 900 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123791
AA Change: R1840H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: R1840H

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 damaging
Transcript: ENSMUST00000144585
AA Change: R1866H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: R1866H

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 unknown
Transcript: ENSMUST00000175778
AA Change: R387H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227011
Predicted Effect probably benign
Transcript: ENSMUST00000228284
Meta Mutation Damage Score 0.2472 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 96% (65/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,838,848 (GRCm39) W674G probably damaging Het
Abcc9 G A 6: 142,638,606 (GRCm39) H103Y probably damaging Het
Ano7 A G 1: 93,323,224 (GRCm39) N495S probably null Het
Aoc1l3 T A 6: 48,964,965 (GRCm39) D324E probably benign Het
Ash1l A G 3: 88,889,584 (GRCm39) N488D probably benign Het
Astn2 A G 4: 65,563,119 (GRCm39) probably benign Het
Atraid T A 5: 31,209,796 (GRCm39) probably benign Het
Baz2b T C 2: 59,767,083 (GRCm39) R866G probably damaging Het
Cep164 T A 9: 45,688,234 (GRCm39) probably benign Het
Clec4f G A 6: 83,629,776 (GRCm39) Q261* probably null Het
Cpne4 A T 9: 104,563,640 (GRCm39) N6Y probably damaging Het
Dhx38 G T 8: 110,289,293 (GRCm39) Q36K probably benign Het
Dna2 C A 10: 62,793,910 (GRCm39) Q341K probably benign Het
Dynap A G 18: 70,375,165 (GRCm39) probably benign Het
Eif3l T C 15: 78,973,809 (GRCm39) V408A probably benign Het
Foxi3 T A 6: 70,934,122 (GRCm39) I203N probably damaging Het
Gcc2 T A 10: 58,134,511 (GRCm39) L1495Q probably damaging Het
Gpr158 A G 2: 21,830,019 (GRCm39) D688G probably damaging Het
Hcfc2 C A 10: 82,575,079 (GRCm39) T246K probably damaging Het
Hdc C T 2: 126,458,152 (GRCm39) E57K probably benign Het
Iqsec3 G C 6: 121,389,743 (GRCm39) probably benign Het
Islr2 T A 9: 58,106,645 (GRCm39) E205V probably damaging Het
Klf9 T C 19: 23,119,498 (GRCm39) L127P probably benign Het
Lamc2 A T 1: 152,999,840 (GRCm39) L1173Q probably damaging Het
Lipe G A 7: 25,097,901 (GRCm39) T14I possibly damaging Het
Lnpep A G 17: 17,751,394 (GRCm39) probably benign Het
Lrrc15 A G 16: 30,092,566 (GRCm39) S258P probably damaging Het
Macc1 A T 12: 119,410,780 (GRCm39) Y516F probably benign Het
Megf6 A G 4: 154,343,630 (GRCm39) T718A probably benign Het
Mtcl2 A G 2: 156,862,612 (GRCm39) L1439P probably damaging Het
Myh1 A G 11: 67,111,445 (GRCm39) D1628G probably damaging Het
Naca C T 10: 127,879,162 (GRCm39) T1398I probably benign Het
Or1f12 A G 13: 21,721,416 (GRCm39) F238S possibly damaging Het
Or2a54 A T 6: 43,093,150 (GRCm39) H158L possibly damaging Het
Padi4 A G 4: 140,496,740 (GRCm39) V52A possibly damaging Het
Paqr5 G A 9: 61,863,527 (GRCm39) T251I probably damaging Het
Pcm1 A G 8: 41,768,967 (GRCm39) D1611G probably damaging Het
Prss12 G A 3: 123,276,445 (GRCm39) R358K probably benign Het
Racgap1 A T 15: 99,526,587 (GRCm39) H325Q probably damaging Het
Rbm12b1 A G 4: 12,145,657 (GRCm39) H543R probably benign Het
Rc3h1 A T 1: 160,795,228 (GRCm39) N1076I probably damaging Het
Rp1 A G 1: 4,415,088 (GRCm39) L2008P possibly damaging Het
Rsph3a A G 17: 8,164,919 (GRCm39) H93R possibly damaging Het
Skic8 T A 9: 54,630,219 (GRCm39) probably benign Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,937,085 (GRCm39) S56P probably damaging Het
Tiam2 A T 17: 3,561,346 (GRCm39) M1304L probably damaging Het
Tmprss11b G T 5: 86,819,753 (GRCm39) R9S probably damaging Het
Tnfrsf21 T A 17: 43,348,505 (GRCm39) I39N probably benign Het
Tnrc6b T C 15: 80,763,604 (GRCm39) S369P probably benign Het
Tpra1 T C 6: 88,887,372 (GRCm39) V217A probably benign Het
Uckl1 G C 2: 181,212,283 (GRCm39) probably benign Het
Vmn1r199 A T 13: 22,566,736 (GRCm39) Q10L probably benign Het
Vmn2r76 A G 7: 85,879,506 (GRCm39) S265P possibly damaging Het
Vwa5b1 A T 4: 138,321,662 (GRCm39) L377Q probably damaging Het
Wrap73 A G 4: 154,229,776 (GRCm39) D49G probably damaging Het
Zfp764 T A 7: 127,004,051 (GRCm39) Q360L possibly damaging Het
Zfp846 G A 9: 20,499,224 (GRCm39) probably benign Het
Zranb2 T C 3: 157,240,096 (GRCm39) I14T probably benign Het
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
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
R6256:Sbf1 UTSW 15 89,185,070 (GRCm39) missense probably benign 0.06
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'- GGACTATTTACAAGCCCAGGGCAG -3'
(R):5'- GCGATACTATGACCACCGAATGGAC -3'

Sequencing Primer
(F):5'- TCAGGGCCTCAAATACTGTCG -3'
(R):5'- ATGCAAGGGTGTCATTGACC -3'
Posted On 2013-06-12