Incidental Mutation 'IGL02210:Mob3c'
ID 284656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mob3c
Ensembl Gene ENSMUSG00000028709
Gene Name MOB kinase activator 3C
Synonyms MOB3C, Mobkl2c, D130076I06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock # IGL02210
Quality Score
Status
Chromosome 4
Chromosomal Location 115828092-115836185 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115833755 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 181 (H181N)
Ref Sequence ENSEMBL: ENSMUSP00000030477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030477] [ENSMUST00000148409]
AlphaFold Q8BJG4
Predicted Effect probably damaging
Transcript: ENSMUST00000030477
AA Change: H181N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030477
Gene: ENSMUSG00000028709
AA Change: H181N

DomainStartEndE-ValueType
Mob1_phocein 33 207 3.04e-103 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144839
Predicted Effect probably benign
Transcript: ENSMUST00000148409
SMART Domains Protein: ENSMUSP00000123611
Gene: ENSMUSG00000028709

DomainStartEndE-ValueType
Pfam:Mob1_phocein 31 90 1.3e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,687,371 F215S probably damaging Het
Acvr2a A T 2: 48,898,526 H422L probably damaging Het
Adcy6 T C 15: 98,594,971 Y908C possibly damaging Het
Alyref A C 11: 120,597,673 S110A possibly damaging Het
Ankrd1 T C 19: 36,118,314 D86G probably damaging Het
Anpep T A 7: 79,826,904 Y29F probably benign Het
Appl1 T C 14: 26,925,952 probably benign Het
Arrdc5 T C 17: 56,300,026 D73G probably damaging Het
Atp12a T A 14: 56,371,744 Y142* probably null Het
Clec4a3 T A 6: 122,954,108 I52N probably damaging Het
Cmya5 G A 13: 93,092,734 P1949S probably benign Het
Crybb2 T A 5: 113,058,387 Q194L probably damaging Het
Dmxl2 A C 9: 54,404,049 L1796R probably damaging Het
Ecm1 A G 3: 95,735,977 F337S probably damaging Het
F5 T C 1: 164,190,141 S596P probably benign Het
Fat4 A G 3: 38,891,853 T1632A probably benign Het
Gm5070 T G 3: 95,410,625 noncoding transcript Het
Hps5 T C 7: 46,786,570 Y184C probably benign Het
Letmd1 T C 15: 100,469,247 probably null Het
Lipo5 A T 19: 33,467,877 N97K unknown Het
Mis18bp1 A T 12: 65,136,831 Y922* probably null Het
Muc4 A T 16: 32,752,254 T711S probably benign Het
Nav3 T C 10: 109,766,990 T1233A probably benign Het
Olfr1120 T A 2: 87,358,003 D186E probably damaging Het
Olfr361 G T 2: 37,085,619 T43N possibly damaging Het
Pcnt T C 10: 76,389,219 E1817G possibly damaging Het
Pdzd3 T G 9: 44,248,317 T461P probably benign Het
Phc3 A G 3: 30,936,709 V420A probably damaging Het
Plekhn1 A T 4: 156,223,649 C316S probably damaging Het
Ppp1cb T A 5: 32,483,474 probably benign Het
Slc29a4 T C 5: 142,718,779 Y359H probably damaging Het
Sspo T C 6: 48,500,492 I4982T probably damaging Het
Sstr4 T A 2: 148,396,309 L280Q probably damaging Het
Stap1 G A 5: 86,078,061 probably null Het
Szt2 A G 4: 118,389,823 V865A possibly damaging Het
Tmem246 A G 4: 49,586,686 Y161H probably benign Het
Tnr T A 1: 159,852,101 V215D probably benign Het
Trpm1 T C 7: 64,210,865 L288P probably damaging Het
Ttll5 T A 12: 85,912,545 probably benign Het
Usp8 T C 2: 126,718,056 probably benign Het
Uxs1 T C 1: 43,750,286 Y403C possibly damaging Het
Wnk2 T C 13: 49,090,869 E497G probably damaging Het
Xdh T C 17: 73,943,895 K21E probably benign Het
Other mutations in Mob3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1718:Mob3c UTSW 4 115831644 missense probably benign 0.00
R1989:Mob3c UTSW 4 115831557 missense probably damaging 1.00
R4678:Mob3c UTSW 4 115833771 splice site probably null
R4883:Mob3c UTSW 4 115833731 missense probably benign 0.11
R5610:Mob3c UTSW 4 115833681 missense probably benign 0.17
R7009:Mob3c UTSW 4 115831582 missense probably benign
R7248:Mob3c UTSW 4 115831684 missense probably benign
R7410:Mob3c UTSW 4 115831587 missense probably damaging 1.00
R8039:Mob3c UTSW 4 115831687 missense probably benign 0.00
R8281:Mob3c UTSW 4 115831438 missense probably benign 0.19
Posted On 2015-04-16