Incidental Mutation 'IGL02399:Mcf2'
ID291823
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 #IGL02399
Quality Score
Status
ChromosomeX
Chromosomal Location60055956-60179089 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60135452 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 255 (D255G)
Ref Sequence ENSEMBL: ENSMUSP00000154494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033478] [ENSMUST00000063507] [ENSMUST00000101531] [ENSMUST00000228150]
Predicted Effect probably damaging
Transcript: ENSMUST00000033478
AA Change: D72G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033478
Gene: ENSMUSG00000031139
AA Change: D72G

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: D175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067075
Gene: ENSMUSG00000031139
AA Change: D175G

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: D72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099070
Gene: ENSMUSG00000031139
AA Change: D72G

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: D255G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 C T 2: 150,858,493 probably benign Het
Adarb1 G A 10: 77,295,754 P624S probably benign Het
Afg3l2 A T 18: 67,429,040 F322I possibly damaging Het
Arhgap23 A G 11: 97,491,005 probably benign Het
Armc4 G T 18: 7,285,719 Q215K probably benign Het
Atp13a1 A G 8: 69,807,101 N1114S probably damaging Het
C3ar1 T C 6: 122,849,879 N460D probably benign Het
Cacna1e A G 1: 154,403,747 Y1988H probably damaging Het
Calr T C 8: 84,842,786 probably benign Het
D5Ertd579e A G 5: 36,616,185 S289P probably damaging Het
Erbb4 G A 1: 68,042,437 probably benign Het
Fam98a A G 17: 75,538,941 probably benign Het
Gm3739 A T 14: 7,299,405 D83E possibly damaging Het
Gm5420 A T 10: 21,691,172 noncoding transcript Het
Heatr5b A G 17: 78,827,967 V245A probably damaging Het
Kptn C A 7: 16,127,113 probably benign Het
Llgl2 T C 11: 115,844,835 C86R probably damaging Het
Lrr1 T A 12: 69,168,891 C12* probably null Het
Med13 A T 11: 86,283,945 probably benign Het
Mthfd1 C T 12: 76,317,632 T735M probably damaging Het
Nlrp2 C T 7: 5,328,810 A196T probably damaging Het
Nnmt T C 9: 48,603,538 I60V probably damaging Het
Olfr1215 T A 2: 89,002,163 T42S probably benign Het
Olfr522 A T 7: 140,162,600 S117T probably benign Het
P2rx3 T C 2: 85,023,227 I140V probably benign Het
Patj A G 4: 98,591,936 N1293D probably damaging Het
Pitpnm2 G A 5: 124,140,758 probably benign Het
Ppp1r26 T G 2: 28,453,280 V974G probably benign Het
Prrc2b T A 2: 32,226,961 L1376* probably null Het
Rab33a T A X: 48,519,707 I36N probably damaging Het
Rab3gap1 A T 1: 127,928,103 N493I possibly damaging Het
Scara3 C A 14: 65,933,110 G107* probably null Het
Siglec1 T C 2: 131,071,178 E1606G probably benign Het
Skint9 A T 4: 112,389,250 Y222N possibly damaging Het
Slc47a1 A T 11: 61,363,058 I185N probably damaging Het
Slc47a2 C A 11: 61,302,194 probably benign Het
Slc4a2 A G 5: 24,434,713 I506V probably damaging Het
Slc9a4 A C 1: 40,600,782 I245L probably benign Het
Smarcb1 T C 10: 75,897,494 T357A probably damaging Het
Spata31d1d A G 13: 59,730,140 probably benign Het
Stox2 T A 8: 47,186,538 I874F probably damaging Het
Taar7b A T 10: 24,000,152 I72F probably damaging Het
Tacc2 G A 7: 130,623,399 V605I probably benign Het
Tef T C 15: 81,815,100 L34P probably damaging Het
Trak2 A G 1: 58,910,045 V532A probably benign Het
Usp13 T A 3: 32,919,060 D795E probably damaging Het
Vmn1r32 T A 6: 66,552,929 I288F probably benign Het
Vmn1r75 T C 7: 11,881,166 I275T possibly damaging Het
Zfp871 A T 17: 32,774,355 F615L probably benign Het
Zfp941 G A 7: 140,812,699 T249M probably benign Het
Zhx1 T C 15: 58,053,741 I370V probably damaging Het
Other mutations in Mcf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Mcf2 APN X 60133735 missense probably damaging 0.99
IGL00845:Mcf2 APN X 60127086 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 On2015-04-16