Incidental Mutation 'IGL02000:Mcidas'
ID182992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcidas
Ensembl Gene ENSMUSG00000074651
Gene Namemulticiliate differentiation and DNA synthesis associated cell cycle protein
SynonymsIdas, Mci, multicilin, Mcin, Gm6320
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02000
Quality Score
Status
Chromosome13
Chromosomal Location112993845-113000394 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 112997440 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 153 (S153P)
Ref Sequence ENSEMBL: ENSMUSP00000089721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092089]
Predicted Effect probably benign
Transcript: ENSMUST00000092089
AA Change: S153P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089721
Gene: ENSMUSG00000074651
AA Change: S153P

DomainStartEndE-ValueType
low complexity region 60 73 N/A INTRINSIC
Pfam:Geminin 169 258 4.8e-20 PFAM
low complexity region 262 272 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.] This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,319,497 F450S probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Cd101 G A 3: 101,012,082 P568L probably benign Het
Cdkl4 T C 17: 80,543,763 E170G probably damaging Het
Chit1 A G 1: 134,146,675 E240G probably benign Het
Duox2 T C 2: 122,290,709 T741A probably benign Het
Eef2 T C 10: 81,180,011 V427A probably benign Het
Ewsr1 T C 11: 5,088,077 D105G probably damaging Het
Ftsj3 C T 11: 106,250,407 R629Q probably benign Het
Gm10406 C T 14: 7,009,867 G181E probably benign Het
Ilk A G 7: 105,741,169 H185R probably benign Het
Lamc1 A T 1: 153,240,433 C1001S probably damaging Het
Mtcl1 T C 17: 66,354,190 E931G probably benign Het
Myo10 C T 15: 25,808,066 R1925C probably damaging Het
Notch3 A G 17: 32,122,742 V2012A probably damaging Het
Olfr809 C A 10: 129,776,069 H67N probably benign Het
Parp6 A G 9: 59,648,892 M542V probably benign Het
Rab27a G A 9: 73,084,972 G94D probably damaging Het
Ralgapb A G 2: 158,454,114 probably benign Het
Rassf4 T C 6: 116,645,972 E26G probably benign Het
Rnf166 C T 8: 122,467,222 D221N probably damaging Het
Rptn G T 3: 93,396,428 G356V probably benign Het
Rwdd2b T A 16: 87,436,940 probably benign Het
Scfd1 T A 12: 51,414,117 S337T probably benign Het
Sel1l3 T A 5: 53,145,493 D678V probably damaging Het
Sidt1 A T 16: 44,286,369 F233I probably damaging Het
Slc12a4 T C 8: 105,945,232 D917G probably damaging Het
Slc22a2 A T 17: 12,584,383 I35F possibly damaging Het
Smco1 A T 16: 32,273,933 T141S possibly damaging Het
Svs6 T C 2: 164,317,432 probably benign Het
Syne2 C T 12: 76,015,645 A4247V probably damaging Het
Tacc2 T A 7: 130,729,168 probably null Het
Tgm4 A T 9: 123,056,466 I358F probably damaging Het
Thnsl2 A G 6: 71,134,219 S222P probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Ube2l6 T C 2: 84,809,162 probably benign Het
Usp10 T A 8: 119,948,741 Y63N possibly damaging Het
Vit A G 17: 78,605,486 I283V possibly damaging Het
Vmn1r214 G A 13: 23,035,100 V255I possibly damaging Het
Xpo1 A G 11: 23,296,003 R1038G probably damaging Het
Ybx1 T A 4: 119,282,312 N50I probably damaging Het
Zhx1 T C 15: 58,054,287 K188E probably damaging Het
Other mutations in Mcidas
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Mcidas APN 13 112997585 splice site probably benign
IGL01355:Mcidas APN 13 112999069 missense probably damaging 1.00
IGL02019:Mcidas APN 13 112996843 missense probably benign 0.00
R0145:Mcidas UTSW 13 112994372 missense probably damaging 1.00
R0412:Mcidas UTSW 13 112999143 missense probably damaging 1.00
R1293:Mcidas UTSW 13 112997392 missense probably benign
R2011:Mcidas UTSW 13 112993981 missense possibly damaging 0.84
R4183:Mcidas UTSW 13 112994372 missense probably damaging 1.00
R4905:Mcidas UTSW 13 112994417 missense possibly damaging 0.84
R4905:Mcidas UTSW 13 112997504 missense possibly damaging 0.82
R5615:Mcidas UTSW 13 112997425 missense probably benign 0.01
R5997:Mcidas UTSW 13 112998586 missense probably damaging 0.99
R6848:Mcidas UTSW 13 112993885 missense probably benign
R7387:Mcidas UTSW 13 112994088 missense probably benign 0.03
R7398:Mcidas UTSW 13 112996882 missense probably benign
R7742:Mcidas UTSW 13 112998987 missense probably damaging 1.00
R7795:Mcidas UTSW 13 112998987 missense probably damaging 1.00
R7797:Mcidas UTSW 13 112998987 missense probably damaging 1.00
R7872:Mcidas UTSW 13 112998987 missense probably damaging 1.00
R7873:Mcidas UTSW 13 112998987 missense probably damaging 1.00
R7920:Mcidas UTSW 13 112998987 missense probably damaging 1.00
X0066:Mcidas UTSW 13 112997447 missense probably damaging 0.97
Posted On2014-05-07