Incidental Mutation 'IGL00838:Mob1a'
ID 10336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mob1a
Ensembl Gene ENSMUSG00000043131
Gene Name MOB kinase activator 1A
Synonyms 4022402H07Rik, Mobk1b, Mobkl1b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # IGL00838
Quality Score
Status
Chromosome 6
Chromosomal Location 83326016-83343776 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83338331 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 78 (R78C)
Ref Sequence ENSEMBL: ENSMUSP00000039115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038658] [ENSMUST00000055261] [ENSMUST00000101245]
AlphaFold Q921Y0
Predicted Effect possibly damaging
Transcript: ENSMUST00000038658
AA Change: R78C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039115
Gene: ENSMUSG00000043131
AA Change: R78C

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: R154C

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054452
Gene: ENSMUSG00000043131
AA Change: R154C

DomainStartEndE-ValueType
Pfam:Mob1_phocein 29 205 3.4e-85 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101245
AA Change: R154C

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098802
Gene: ENSMUSG00000043131
AA Change: R154C

DomainStartEndE-ValueType
Mob1_phocein 31 204 1.26e-118 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146420
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 C A 1: 93,402,757 N834K possibly damaging Het
Armc10 T A 5: 21,661,581 V281E probably damaging Het
Baat A T 4: 49,490,352 M244K probably damaging Het
Cryz T A 3: 154,618,475 C166S probably damaging Het
D430041D05Rik T A 2: 104,201,303 K1649N probably damaging Het
Dennd5b T C 6: 149,005,363 probably benign Het
Dock8 A T 19: 25,175,459 R1630* probably null Het
Gstm5 A G 3: 107,897,558 N122S probably benign Het
Klra5 C A 6: 129,911,359 G35C possibly damaging Het
Klrb1f G A 6: 129,054,316 V159I possibly damaging Het
Mgl2 A T 11: 70,134,212 M14L probably benign Het
Pigo C T 4: 43,021,767 A392T possibly damaging Het
Polr3a A T 14: 24,475,863 N436K probably benign Het
Prokr1 T C 6: 87,588,693 T57A possibly damaging Het
Ror1 T G 4: 100,333,743 V99G probably damaging Het
Ryr2 A T 13: 11,568,503 I4755N probably damaging Het
Senp5 T C 16: 31,989,173 D394G probably damaging Het
Speg A G 1: 75,410,390 I1318V possibly damaging Het
Syt6 T A 3: 103,625,626 M357K probably damaging Het
Tex11 A T X: 100,972,118 I328N possibly damaging Het
Ttc37 T C 13: 76,134,791 L744P probably damaging Het
Vnn1 T C 10: 23,900,779 F343L possibly damaging Het
Wdr72 A T 9: 74,155,129 E519V probably damaging Het
Other mutations in Mob1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Mob1a APN 6 83332486 missense probably damaging 1.00
IGL01685:Mob1a APN 6 83332503 missense probably benign 0.00
R0612:Mob1a UTSW 6 83334158 missense probably benign 0.31
R4870:Mob1a UTSW 6 83340239 missense probably benign 0.01
R6682:Mob1a UTSW 6 83334150 missense possibly damaging 0.54
R7299:Mob1a UTSW 6 83338449 splice site probably null
R7417:Mob1a UTSW 6 83332510 missense probably benign 0.00
R7968:Mob1a UTSW 6 83338305 missense probably benign 0.00
R8324:Mob1a UTSW 6 83329974 missense probably damaging 1.00
Posted On 2012-12-06