Incidental Mutation 'R6682:Mob1a'
ID 527539
Institutional Source Beutler Lab
Gene Symbol Mob1a
Ensembl Gene ENSMUSG00000043131
Gene Name MOB kinase activator 1A
Synonyms 4022402H07Rik, Mobkl1b, Mobk1b
MMRRC Submission 044801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R6682 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 83303016-83320758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83311132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 117 (Y117C)
Ref Sequence ENSEMBL: ENSMUSP00000098802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038658] [ENSMUST00000055261] [ENSMUST00000101245] [ENSMUST00000133045] [ENSMUST00000155580]
AlphaFold Q921Y0
Predicted Effect probably benign
Transcript: ENSMUST00000038658
SMART Domains Protein: ENSMUSP00000039115
Gene: ENSMUSG00000043131

DomainStartEndE-ValueType
Pfam:Mob1_phocein 29 63 1.1e-9 PFAM
Pfam:Mob1_phocein 60 129 3.9e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000055261
AA Change: Y117C

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000054452
Gene: ENSMUSG00000043131
AA Change: Y117C

DomainStartEndE-ValueType
Pfam:Mob1_phocein 29 205 3.4e-85 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101245
AA Change: Y117C

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098802
Gene: ENSMUSG00000043131
AA Change: Y117C

DomainStartEndE-ValueType
Mob1_phocein 31 204 1.26e-118 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146420
Predicted Effect probably benign
Transcript: ENSMUST00000155580
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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 a component of the Hippo signaling pathway, which controls organ size and tumor growth by enhancing apoptosis. Loss of the encoded protein results in cell proliferation and cancer formation. The encoded protein is also involved in the control of microtubule stability during cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,385,460 (GRCm39) V368A possibly damaging Het
Bcl9l A G 9: 44,412,400 (GRCm39) T92A possibly damaging Het
Celsr2 A T 3: 108,307,817 (GRCm39) probably null Het
Cndp2 T C 18: 84,695,455 (GRCm39) K149E probably benign Het
Cnpy4 T C 5: 138,185,984 (GRCm39) probably null Het
Cox6c A T 15: 35,938,319 (GRCm39) probably null Het
Cpt2 G T 4: 107,761,627 (GRCm39) S158R probably damaging Het
Dlgap1 A G 17: 71,094,118 (GRCm39) K813R probably damaging Het
Dock10 A C 1: 80,490,338 (GRCm39) L1927R probably damaging Het
Gak T A 5: 108,746,742 (GRCm39) K430I probably damaging Het
Grik3 T A 4: 125,544,259 (GRCm39) Y327N probably damaging Het
Ldb3 T A 14: 34,274,221 (GRCm39) T334S possibly damaging Het
Ldlr A G 9: 21,643,671 (GRCm39) D85G probably benign Het
Med26 T A 8: 73,249,927 (GRCm39) T391S probably benign Het
Mmp27 A G 9: 7,573,606 (GRCm39) T233A probably benign Het
Mrps35 A T 6: 146,949,777 (GRCm39) E97V possibly damaging Het
Msln A T 17: 25,971,993 (GRCm39) S75T probably damaging Het
Myoz1 C T 14: 20,703,687 (GRCm39) probably null Het
Nim1k A G 13: 120,173,724 (GRCm39) I390T probably benign Het
Or10k2 A G 8: 84,268,187 (GRCm39) H138R probably benign Het
Or4k51 C T 2: 111,584,980 (GRCm39) P129S probably damaging Het
Pclo A C 5: 14,589,893 (GRCm39) Q731P unknown Het
Prl3d3 G A 13: 27,345,023 (GRCm39) E132K probably benign Het
Pth1r C T 9: 110,556,319 (GRCm39) probably null Het
Ptpru T C 4: 131,548,093 (GRCm39) M135V probably benign Het
Slc12a9 A T 5: 137,325,663 (GRCm39) L316Q probably damaging Het
Slc35f6 G A 5: 30,814,764 (GRCm39) M177I possibly damaging Het
Smc4 T A 3: 68,914,574 (GRCm39) S62R probably damaging Het
Tmem179 C T 12: 112,469,714 (GRCm39) D29N probably benign Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Trpc4ap C T 2: 155,479,687 (GRCm39) probably null Het
Trpm8 C A 1: 88,254,224 (GRCm39) T149K probably damaging Het
Uhmk1 C T 1: 170,039,804 (GRCm39) probably null Het
Vmn2r79 C A 7: 86,653,370 (GRCm39) T545K possibly damaging Het
Vmn2r95 C A 17: 18,660,489 (GRCm39) N300K probably damaging Het
Wdr41 G A 13: 95,149,639 (GRCm39) G419D probably damaging Het
Zc3hav1 A T 6: 38,302,130 (GRCm39) H597Q probably benign Het
Zfp704 T C 3: 9,630,253 (GRCm39) E36G probably benign Het
Zfp9 A G 6: 118,444,202 (GRCm39) V47A possibly damaging Het
Other mutations in Mob1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Mob1a APN 6 83,309,468 (GRCm39) missense probably damaging 1.00
IGL00838:Mob1a APN 6 83,315,313 (GRCm39) missense possibly damaging 0.94
IGL01685:Mob1a APN 6 83,309,485 (GRCm39) missense probably benign 0.00
R0612:Mob1a UTSW 6 83,311,140 (GRCm39) missense probably benign 0.31
R4870:Mob1a UTSW 6 83,317,221 (GRCm39) missense probably benign 0.01
R7299:Mob1a UTSW 6 83,315,431 (GRCm39) splice site probably null
R7417:Mob1a UTSW 6 83,309,492 (GRCm39) missense probably benign 0.00
R7968:Mob1a UTSW 6 83,315,287 (GRCm39) missense probably benign 0.00
R8324:Mob1a UTSW 6 83,306,956 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATAGGCTGACAGTCTCCTG -3'
(R):5'- TCAAGTTCTTTGCAGATGCGG -3'

Sequencing Primer
(F):5'- CAGTCAGTGCTCTTACTGCTGAG -3'
(R):5'- CAGATGCGGCCTTCTCTGTTAAG -3'
Posted On 2018-07-23