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, Mobkl1b, Mobk1b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL00838
Quality Score
Status
Chromosome 6
Chromosomal Location 83303016-83320758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83315313 bp (GRCm39)
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: 93,330,479 (GRCm39) N834K possibly damaging Het
Armc10 T A 5: 21,866,579 (GRCm39) V281E probably damaging Het
Baat A T 4: 49,490,352 (GRCm39) M244K probably damaging Het
Cryz T A 3: 154,324,112 (GRCm39) C166S probably damaging Het
D430041D05Rik T A 2: 104,031,648 (GRCm39) K1649N probably damaging Het
Dennd5b T C 6: 148,906,861 (GRCm39) probably benign Het
Dock8 A T 19: 25,152,823 (GRCm39) R1630* probably null Het
Gstm5 A G 3: 107,804,874 (GRCm39) N122S probably benign Het
Klra5 C A 6: 129,888,322 (GRCm39) G35C possibly damaging Het
Klrb1f G A 6: 129,031,279 (GRCm39) V159I possibly damaging Het
Mgl2 A T 11: 70,025,038 (GRCm39) M14L probably benign Het
Pigo C T 4: 43,021,767 (GRCm39) A392T possibly damaging Het
Polr3a A T 14: 24,525,931 (GRCm39) N436K probably benign Het
Prokr1 T C 6: 87,565,675 (GRCm39) T57A possibly damaging Het
Ror1 T G 4: 100,190,940 (GRCm39) V99G probably damaging Het
Ryr2 A T 13: 11,583,389 (GRCm39) I4755N probably damaging Het
Senp5 T C 16: 31,807,991 (GRCm39) D394G probably damaging Het
Skic3 T C 13: 76,282,910 (GRCm39) L744P probably damaging Het
Speg A G 1: 75,387,034 (GRCm39) I1318V possibly damaging Het
Syt6 T A 3: 103,532,942 (GRCm39) M357K probably damaging Het
Tex11 A T X: 100,015,724 (GRCm39) I328N possibly damaging Het
Vnn1 T C 10: 23,776,677 (GRCm39) F343L possibly damaging Het
Wdr72 A T 9: 74,062,411 (GRCm39) E519V probably damaging Het
Other mutations in Mob1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Mob1a APN 6 83,309,468 (GRCm39) missense probably damaging 1.00
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