Incidental Mutation 'IGL00468:Mcf2'
ID3124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcf2
Ensembl Gene ENSMUSG00000031139
Gene Namemcf.2 transforming sequence
SynonymsB230117G22Rik, Dbl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00468
Quality Score
Status
ChromosomeX
Chromosomal Location60055956-60179089 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 60133735 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 104 (T104I)
Ref Sequence ENSEMBL: ENSMUSP00000099070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033478] [ENSMUST00000063507] [ENSMUST00000101531] [ENSMUST00000228150]
Predicted Effect probably damaging
Transcript: ENSMUST00000033478
AA Change: T104I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033478
Gene: ENSMUSG00000031139
AA Change: T104I

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 10 89 4.4e-10 PFAM
SPEC 221 322 2.74e-2 SMART
coiled coil region 395 419 N/A INTRINSIC
RhoGEF 514 689 1.3e-62 SMART
PH 709 826 1.43e-9 SMART
low complexity region 835 850 N/A INTRINSIC
low complexity region 888 901 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000063507
AA Change: T207I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067075
Gene: ENSMUSG00000031139
AA Change: T207I

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
SEC14 122 268 5.71e-19 SMART
SPEC 404 505 2.74e-2 SMART
coiled coil region 578 602 N/A INTRINSIC
RhoGEF 681 856 1.3e-62 SMART
PH 876 993 1.43e-9 SMART
low complexity region 1002 1017 N/A INTRINSIC
low complexity region 1055 1068 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101531
AA Change: T104I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099070
Gene: ENSMUSG00000031139
AA Change: T104I

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 10 89 9.5e-10 PFAM
SPEC 221 322 2.74e-2 SMART
coiled coil region 395 419 N/A INTRINSIC
RhoGEF 498 673 1.3e-62 SMART
PH 693 810 1.43e-9 SMART
low complexity region 819 834 N/A INTRINSIC
low complexity region 872 885 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000228150
AA Change: T287I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous and hemizygous null mice are viable, fertile and behaviorally normal, exhibit normal gonad and brain development and neuronal migration, but show a significant reduction of basal dendritic length in distinct subpopulations of cortical pyramidal neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,580,453 E123G probably damaging Het
Alpk2 A T 18: 65,305,823 L1300Q probably benign Het
Armc9 T C 1: 86,198,339 Y51H probably damaging Het
Bcl11b A G 12: 107,965,815 V166A possibly damaging Het
Cfap70 T A 14: 20,412,462 D565V possibly damaging Het
Cops5 C A 1: 10,034,070 G132W probably damaging Het
Dync1i1 G A 6: 5,972,135 V468M probably damaging Het
Fam126b T G 1: 58,530,232 E396A probably benign Het
Fasn A C 11: 120,820,539 D216E probably damaging Het
Fktn T A 4: 53,734,866 I168K probably benign Het
Gal3st2c A G 1: 94,009,049 R239G probably benign Het
Glt6d1 A C 2: 25,811,029 L36R probably damaging Het
Herc3 A G 6: 58,918,766 I1000V probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lhcgr C T 17: 88,742,446 V551I probably benign Het
Lmna G T 3: 88,484,684 S437R probably benign Het
Lrrc49 A G 9: 60,687,868 probably benign Het
Lrriq3 A G 3: 155,101,179 D155G probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep A G 14: 60,875,260 E664G probably benign Het
Mybpc1 A T 10: 88,549,262 V519D probably damaging Het
Nfil3 C A 13: 52,967,574 L431F probably damaging Het
Sctr T A 1: 120,044,720 V197E probably damaging Het
Sesn2 T C 4: 132,499,813 T103A probably benign Het
Sptbn4 A T 7: 27,417,965 V453D probably damaging Het
Supt5 A T 7: 28,315,382 H1023Q probably benign Het
Tcof1 T C 18: 60,814,568 probably benign Het
Tekt2 T A 4: 126,323,189 E262D possibly damaging Het
Tenm4 T A 7: 96,874,472 H1732Q probably damaging Het
Tln2 T C 9: 67,344,187 D840G possibly damaging Het
Tox4 A G 14: 52,285,745 D54G probably damaging Het
Other mutations in Mcf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00845:Mcf2 APN X 60127086 missense probably damaging 1.00
IGL02399:Mcf2 APN X 60135452 missense probably damaging 1.00
R2012:Mcf2 UTSW X 60077214 missense probably damaging 0.98
R3545:Mcf2 UTSW X 60135446 missense probably damaging 1.00
R3547:Mcf2 UTSW X 60135446 missense probably damaging 1.00
X0020:Mcf2 UTSW X 60110622 missense probably damaging 1.00
Z1088:Mcf2 UTSW X 60178713 missense probably benign
Posted On2012-04-20