Incidental Mutation 'R4183:Mcidas'
ID 319836
Institutional Source Beutler Lab
Gene Symbol Mcidas
Ensembl Gene ENSMUSG00000074651
Gene Name multiciliate differentiation and DNA synthesis associated cell cycle protein
Synonyms Gm6320, Mcin, Idas, Mci, multicilin
MMRRC Submission 041019-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4183 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 113130379-113136928 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113130906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 77 (D77G)
Ref Sequence ENSEMBL: ENSMUSP00000089721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038404] [ENSMUST00000092089]
AlphaFold Q3UZ45
Predicted Effect probably benign
Transcript: ENSMUST00000038404
SMART Domains Protein: ENSMUSP00000040083
Gene: ENSMUSG00000042417

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 30 46 N/A INTRINSIC
low complexity region 63 79 N/A INTRINSIC
CYCLIN 140 224 1.23e-19 SMART
Cyclin_C 233 350 3.49e-7 SMART
CYCLIN 244 327 5.77e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000092089
AA Change: D77G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089721
Gene: ENSMUSG00000074651
AA Change: D77G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225555
Meta Mutation Damage Score 0.0899 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd11 T C 8: 123,626,415 (GRCm39) I198V possibly damaging Het
Arhgap12 T C 18: 6,111,734 (GRCm39) D210G probably damaging Het
Arpc2 T A 1: 74,287,322 (GRCm39) N31K probably damaging Het
Atp11a T A 8: 12,866,990 (GRCm39) V139D possibly damaging Het
Bicral T C 17: 47,124,955 (GRCm39) K615E probably damaging Het
Ccdc27 TTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTC 4: 154,120,763 (GRCm39) probably benign Het
Chrnb1 T C 11: 69,677,922 (GRCm39) M277V possibly damaging Het
Csmd1 C T 8: 15,960,464 (GRCm39) C3317Y probably damaging Het
Ddx1 A T 12: 13,281,504 (GRCm39) L353* probably null Het
Degs2 T C 12: 108,658,358 (GRCm39) K207R probably damaging Het
Fam167a T C 14: 63,689,769 (GRCm39) V22A probably benign Het
Fam186a G A 15: 99,831,566 (GRCm39) probably benign Het
Gprc5b T C 7: 118,583,749 (GRCm39) D40G probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Inpp5j A G 11: 3,451,134 (GRCm39) I505T probably damaging Het
Lurap1l G A 4: 80,872,095 (GRCm39) S196N probably benign Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Mapkbp1 A G 2: 119,848,346 (GRCm39) D632G probably damaging Het
Mdga1 A G 17: 30,188,964 (GRCm39) V33A unknown Het
Me3 A G 7: 89,501,038 (GRCm39) D583G probably benign Het
Mndal T A 1: 173,703,337 (GRCm39) T23S possibly damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Nat10 A G 2: 103,570,158 (GRCm39) L395P probably damaging Het
Naxd T C 8: 11,552,757 (GRCm39) V59A probably damaging Het
Nbeal2 A T 9: 110,465,743 (GRCm39) V876E probably benign Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Or4a39 T C 2: 89,236,935 (GRCm39) T163A probably benign Het
Or51v8 T C 7: 103,320,178 (GRCm39) Y20C possibly damaging Het
Or8g50 A G 9: 39,648,344 (GRCm39) T78A probably benign Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk4 C T 10: 80,160,845 (GRCm39) R327Q probably benign Het
Pkhd1 C T 1: 20,188,031 (GRCm39) V3426I probably benign Het
Ranbp2 T C 10: 58,301,488 (GRCm39) F687L possibly damaging Het
Rb1 A G 14: 73,435,966 (GRCm39) probably null Het
Tfpi2 C A 6: 3,963,926 (GRCm39) V51L probably damaging Het
Tnn T C 1: 159,924,925 (GRCm39) D1143G probably damaging Het
Ttn A G 2: 76,541,586 (GRCm39) M25473T probably benign Het
Vmn1r201 A G 13: 22,659,022 (GRCm39) I79V probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Wdr25 T A 12: 108,993,257 (GRCm39) F491Y probably benign Het
Zfp972 G A 2: 177,563,250 (GRCm39) Q56* probably null Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Other mutations in Mcidas
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Mcidas APN 13 113,134,119 (GRCm39) splice site probably benign
IGL01355:Mcidas APN 13 113,135,603 (GRCm39) missense probably damaging 1.00
IGL02000:Mcidas APN 13 113,133,974 (GRCm39) missense probably benign
IGL02019:Mcidas APN 13 113,133,377 (GRCm39) missense probably benign 0.00
R0145:Mcidas UTSW 13 113,130,906 (GRCm39) missense probably damaging 1.00
R0412:Mcidas UTSW 13 113,135,677 (GRCm39) missense probably damaging 1.00
R1293:Mcidas UTSW 13 113,133,926 (GRCm39) missense probably benign
R2011:Mcidas UTSW 13 113,130,515 (GRCm39) missense possibly damaging 0.84
R4905:Mcidas UTSW 13 113,134,038 (GRCm39) missense possibly damaging 0.82
R4905:Mcidas UTSW 13 113,130,951 (GRCm39) missense possibly damaging 0.84
R5615:Mcidas UTSW 13 113,133,959 (GRCm39) missense probably benign 0.01
R5997:Mcidas UTSW 13 113,135,120 (GRCm39) missense probably damaging 0.99
R6848:Mcidas UTSW 13 113,130,419 (GRCm39) missense probably benign
R7387:Mcidas UTSW 13 113,130,622 (GRCm39) missense probably benign 0.03
R7398:Mcidas UTSW 13 113,133,416 (GRCm39) missense probably benign
R7742:Mcidas UTSW 13 113,135,521 (GRCm39) missense probably damaging 1.00
R7795:Mcidas UTSW 13 113,135,521 (GRCm39) missense probably damaging 1.00
R7797:Mcidas UTSW 13 113,135,521 (GRCm39) missense probably damaging 1.00
R7872:Mcidas UTSW 13 113,135,521 (GRCm39) missense probably damaging 1.00
R7873:Mcidas UTSW 13 113,135,521 (GRCm39) missense probably damaging 1.00
R7920:Mcidas UTSW 13 113,135,521 (GRCm39) missense probably damaging 1.00
R8859:Mcidas UTSW 13 113,130,664 (GRCm39) missense possibly damaging 0.90
R9342:Mcidas UTSW 13 113,130,915 (GRCm39) missense probably damaging 1.00
R9761:Mcidas UTSW 13 113,135,453 (GRCm39) missense probably benign 0.04
X0066:Mcidas UTSW 13 113,133,981 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CAACCCGATTATCCATGCCG -3'
(R):5'- GCTCTGGAAACGAGAACTTAAGC -3'

Sequencing Primer
(F):5'- CGATTATCCATGCCGGGTGG -3'
(R):5'- GTGCTCCCAGTCCATCTTGAGAC -3'
Posted On 2015-06-10