Incidental Mutation 'IGL00845:Mcf2'
ID 11930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcf2
Ensembl Gene ENSMUSG00000031139
Gene Name mcf.2 transforming sequence
Synonyms B230117G22Rik, Dbl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00845
Quality Score
Status
Chromosome X
Chromosomal Location 59101316-59224449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59172446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 429 (D429V)
Ref Sequence ENSEMBL: ENSMUSP00000154494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033478] [ENSMUST00000063507] [ENSMUST00000101531] [ENSMUST00000228150]
AlphaFold Q8BLE2
Predicted Effect probably damaging
Transcript: ENSMUST00000033478
AA Change: D246V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033478
Gene: ENSMUSG00000031139
AA Change: D246V

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 benign
Transcript: ENSMUST00000063507
AA Change: D349V

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000067075
Gene: ENSMUSG00000031139
AA Change: D349V

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 possibly damaging
Transcript: ENSMUST00000101531
AA Change: D246V

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099070
Gene: ENSMUSG00000031139
AA Change: D246V

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: D429V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,823,174 (GRCm39) probably benign Het
Dnah8 T A 17: 31,038,250 (GRCm39) probably null Het
Hmcn1 G A 1: 150,480,757 (GRCm39) S4473F probably damaging Het
Myo15a A G 11: 60,368,605 (GRCm39) D455G probably damaging Het
Myom1 T C 17: 71,391,424 (GRCm39) Y978H probably damaging Het
Naglu A G 11: 100,967,778 (GRCm39) E576G possibly damaging Het
Rbm20 T C 19: 53,806,380 (GRCm39) Y487H probably damaging Het
Slc12a1 T A 2: 125,030,158 (GRCm39) C577S probably damaging Het
Slc34a2 T C 5: 53,215,696 (GRCm39) probably benign Het
Sulf1 C T 1: 12,867,191 (GRCm39) T125I probably damaging Het
Tbc1d21 C T 9: 58,269,745 (GRCm39) V198I possibly damaging Het
Tcp11l2 T C 10: 84,440,847 (GRCm39) V351A possibly damaging Het
Tdrd6 T C 17: 43,937,607 (GRCm39) D1147G probably benign Het
Tmem185a A T X: 69,505,923 (GRCm39) probably null Het
Vps50 C T 6: 3,532,177 (GRCm39) Q227* probably null Het
Zfp599 T A 9: 22,162,814 (GRCm39) probably benign Het
Zmym4 A G 4: 126,794,406 (GRCm39) V908A probably benign Het
Other mutations in Mcf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Mcf2 APN X 59,179,095 (GRCm39) missense probably damaging 0.99
IGL02399:Mcf2 APN X 59,180,812 (GRCm39) missense probably damaging 1.00
R2012:Mcf2 UTSW X 59,122,574 (GRCm39) missense probably damaging 0.98
R3545:Mcf2 UTSW X 59,180,806 (GRCm39) missense probably damaging 1.00
R3547:Mcf2 UTSW X 59,180,806 (GRCm39) missense probably damaging 1.00
X0020:Mcf2 UTSW X 59,155,982 (GRCm39) missense probably damaging 1.00
Z1088:Mcf2 UTSW X 59,224,073 (GRCm39) missense probably benign
Posted On 2012-12-06