Incidental Mutation 'IGL01737:Def6'
ID105727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Def6
Ensembl Gene ENSMUSG00000002257
Gene Namedifferentially expressed in FDCP 6
SynonymsIBP, SLAT, 6430538D02Rik, IRF-4-binding protein, 2410003F05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01737
Quality Score
Status
Chromosome17
Chromosomal Location28207778-28228608 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 28223727 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 288 (R288L)
Ref Sequence ENSEMBL: ENSMUSP00000002327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002327]
Predicted Effect possibly damaging
Transcript: ENSMUST00000002327
AA Change: R288L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: R288L

DomainStartEndE-ValueType
low complexity region 145 166 N/A INTRINSIC
PH 217 314 3.87e-20 SMART
coiled coil region 318 551 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutants spontaneously develop systemic autoimmunity. Females primarily are affected, displaying hypergammaglobulinemia, accumulation of effector/memory T cells and IgG+ B cells, and production of autoantibodies [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A G 13: 104,390,135 I524V probably damaging Het
Atxn2 T A 5: 121,797,344 M336K probably damaging Het
Bcr T A 10: 75,154,951 F763Y probably damaging Het
Bdnf A G 2: 109,723,755 Y158C probably damaging Het
Ccdc92 T C 5: 124,835,856 E203G probably damaging Het
Cyp2j12 T C 4: 96,122,658 *72W probably null Het
Foxn1 T G 11: 78,360,906 S500R possibly damaging Het
Gss T C 2: 155,567,806 K77E probably damaging Het
Habp2 G A 19: 56,316,307 G410D probably benign Het
Krt36 A T 11: 100,104,120 C209S possibly damaging Het
Mmrn1 T C 6: 60,977,161 F809L probably benign Het
Mptx2 C A 1: 173,274,841 V94F probably damaging Het
Myh4 G T 11: 67,243,419 probably benign Het
N4bp2l1 G T 5: 150,594,316 H41N possibly damaging Het
Ndnf T A 6: 65,703,555 S273T probably benign Het
Nt5c1b A T 12: 10,390,108 Y624F possibly damaging Het
Prss8 C T 7: 127,926,580 V256M probably damaging Het
Ramp1 T C 1: 91,223,099 probably benign Het
Sf3b2 A G 19: 5,279,838 probably benign Het
Tfdp2 G A 9: 96,300,412 R235Q possibly damaging Het
Tle1 C T 4: 72,197,821 probably benign Het
Tmprss11e A G 5: 86,719,734 V159A probably damaging Het
Trim12c A G 7: 104,348,062 C96R probably damaging Het
Usp24 A G 4: 106,387,734 D1256G probably benign Het
Other mutations in Def6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Def6 APN 17 28219740 splice site probably benign
IGL01619:Def6 APN 17 28207864 missense probably damaging 1.00
IGL02550:Def6 APN 17 28228261 missense probably benign 0.03
R0013:Def6 UTSW 17 28217092 missense probably damaging 1.00
R0335:Def6 UTSW 17 28228069 missense possibly damaging 0.83
R0357:Def6 UTSW 17 28223935 missense probably damaging 1.00
R0373:Def6 UTSW 17 28220180 missense probably damaging 0.96
R1161:Def6 UTSW 17 28217619 missense probably benign 0.00
R1310:Def6 UTSW 17 28217619 missense probably benign 0.00
R1470:Def6 UTSW 17 28225982 missense possibly damaging 0.67
R1470:Def6 UTSW 17 28225982 missense possibly damaging 0.67
R1636:Def6 UTSW 17 28223918 missense possibly damaging 0.95
R1778:Def6 UTSW 17 28220186 missense probably benign 0.02
R2432:Def6 UTSW 17 28228069 missense probably benign 0.03
R3881:Def6 UTSW 17 28220215 missense probably damaging 1.00
R4402:Def6 UTSW 17 28219976 missense probably damaging 0.99
R4589:Def6 UTSW 17 28228147 missense probably benign
R4683:Def6 UTSW 17 28217635 missense probably damaging 0.99
R5704:Def6 UTSW 17 28228226 missense probably benign
R6481:Def6 UTSW 17 28226163 missense probably benign 0.00
R6805:Def6 UTSW 17 28223717 missense probably damaging 1.00
R7029:Def6 UTSW 17 28225969 missense probably benign 0.05
R7863:Def6 UTSW 17 28227867 missense possibly damaging 0.62
R8229:Def6 UTSW 17 28217755 missense probably damaging 1.00
Posted On2014-01-21