Incidental Mutation 'IGL00756:Mob1a'
ID 10334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mob1a
Ensembl Gene ENSMUSG00000043131
Gene Name MOB kinase activator 1A
Synonyms 4022402H07Rik, Mobkl1b, Mobk1b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL00756
Quality Score
Status
Chromosome 6
Chromosomal Location 83303016-83320758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83309468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 72 (Y72N)
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 probably damaging
Transcript: ENSMUST00000055261
AA Change: Y72N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054452
Gene: ENSMUSG00000043131
AA Change: Y72N

DomainStartEndE-ValueType
Pfam:Mob1_phocein 29 205 3.4e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101245
AA Change: Y72N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098802
Gene: ENSMUSG00000043131
AA Change: Y72N

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 damaging
Transcript: ENSMUST00000155580
AA Change: Y27N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A T 2: 48,763,064 (GRCm39) probably benign Het
Bltp1 C A 3: 36,962,367 (GRCm39) H489Q probably damaging Het
Col19a1 T A 1: 24,362,023 (GRCm39) K583N possibly damaging Het
Cplane1 A G 15: 8,293,931 (GRCm39) probably benign Het
Crot C A 5: 9,026,072 (GRCm39) R305L probably damaging Het
Ctnnal1 A T 4: 56,829,544 (GRCm39) N428K possibly damaging Het
Dab1 A G 4: 104,585,075 (GRCm39) K405R probably benign Het
Dnah6 A C 6: 73,100,754 (GRCm39) F2016L possibly damaging Het
Fgfrl1 A G 5: 108,853,819 (GRCm39) K309E possibly damaging Het
Gucy1b2 T C 14: 62,640,658 (GRCm39) H749R probably benign Het
Mki67 A T 7: 135,300,460 (GRCm39) S1525T possibly damaging Het
Ntrk1 C T 3: 87,691,004 (GRCm39) E387K probably benign Het
Qser1 A G 2: 104,618,016 (GRCm39) M932T possibly damaging Het
Rarb C A 14: 16,443,791 (GRCm38) E166* probably null Het
Thnsl1 T A 2: 21,217,423 (GRCm39) H392Q probably benign Het
Tmem171 T A 13: 98,822,934 (GRCm39) R288S probably benign Het
Zc4h2 T A X: 94,685,807 (GRCm39) R186* probably null Het
Other mutations in Mob1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6682:Mob1a UTSW 6 83,311,132 (GRCm39) missense possibly damaging 0.54
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
Posted On 2012-12-06