Incidental Mutation 'R4870:Mob1a'
ID 376495
Institutional Source Beutler Lab
Gene Symbol Mob1a
Ensembl Gene ENSMUSG00000043131
Gene Name MOB kinase activator 1A
Synonyms 4022402H07Rik, Mobkl1b, Mobk1b
MMRRC Submission 042480-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R4870 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 83303016-83320758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83317221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 213 (S213P)
Ref Sequence ENSEMBL: ENSMUSP00000098802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038658] [ENSMUST00000055261] [ENSMUST00000101245]
AlphaFold Q921Y0
Predicted Effect unknown
Transcript: ENSMUST00000038658
AA Change: S137P
SMART Domains Protein: ENSMUSP00000039115
Gene: ENSMUSG00000043131
AA Change: S137P

DomainStartEndE-ValueType
Pfam:Mob1_phocein 29 63 1.1e-9 PFAM
Pfam:Mob1_phocein 60 129 3.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055261
AA Change: S213P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000054452
Gene: ENSMUSG00000043131
AA Change: S213P

DomainStartEndE-ValueType
Pfam:Mob1_phocein 29 205 3.4e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101245
AA Change: S213P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000098802
Gene: ENSMUSG00000043131
AA Change: S213P

DomainStartEndE-ValueType
Mob1_phocein 31 204 1.26e-118 SMART
Meta Mutation Damage Score 0.0704 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 100% (77/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,069,540 (GRCm39) I1285N probably damaging Het
Abcc8 G A 7: 45,756,683 (GRCm39) R721* probably null Het
Alox8 T C 11: 69,077,394 (GRCm39) Y423C probably damaging Het
Ankle2 T A 5: 110,399,344 (GRCm39) probably null Het
Cdc14a A G 3: 116,217,109 (GRCm39) I9T probably benign Het
Ceacam18 T C 7: 43,291,328 (GRCm39) C257R probably damaging Het
Cilp T C 9: 65,186,980 (GRCm39) V1025A probably damaging Het
Clcn7 G T 17: 25,372,539 (GRCm39) probably benign Het
Csnk1d A T 11: 120,874,014 (GRCm39) probably benign Het
Cyp11b2 A G 15: 74,724,995 (GRCm39) S285P probably benign Het
Dip2b T A 15: 100,093,665 (GRCm39) probably null Het
Dmrt1 T A 19: 25,483,219 (GRCm39) M1K probably null Het
Dnajc14 T C 10: 128,653,219 (GRCm39) V684A probably benign Het
Dnmt3b A G 2: 153,512,284 (GRCm39) Q335R probably benign Het
Exoc3l2 T A 7: 19,229,117 (GRCm39) C772S unknown Het
F2rl1 A T 13: 95,650,492 (GRCm39) F130Y probably damaging Het
Galk2 C G 2: 125,771,557 (GRCm39) S194* probably null Het
Garre1 C A 7: 33,984,312 (GRCm39) V104L possibly damaging Het
Gpbp1l1 A G 4: 116,430,714 (GRCm39) T62A probably benign Het
H2-Q10 A T 17: 35,781,357 (GRCm39) D53V probably damaging Het
H2-T22 T C 17: 36,349,924 (GRCm39) K356R probably benign Het
Insrr G A 3: 87,718,911 (GRCm39) V956M probably damaging Het
Ints7 A G 1: 191,328,443 (GRCm39) T239A probably damaging Het
Isl1 A G 13: 116,444,806 (GRCm39) probably benign Het
Kcng2 A G 18: 80,366,083 (GRCm39) C90R probably benign Het
Kif3c C T 12: 3,451,735 (GRCm39) P171S probably damaging Het
Knl1 A G 2: 118,911,994 (GRCm39) T1704A probably benign Het
Lats1 A G 10: 7,581,549 (GRCm39) Y778C probably damaging Het
Limd2 T C 11: 106,050,215 (GRCm39) M1V probably null Het
Mcm10 A T 2: 5,008,970 (GRCm39) I333N probably damaging Het
Mipep T A 14: 61,040,329 (GRCm39) L283* probably null Het
Mixl1 A G 1: 180,522,237 (GRCm39) S215P probably benign Het
Mmp21 A G 7: 133,280,406 (GRCm39) L188P probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Ndufaf6 T C 4: 11,060,917 (GRCm39) T220A probably benign Het
Nr4a3 A T 4: 48,051,651 (GRCm39) Y135F possibly damaging Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Obscn A T 11: 59,027,032 (GRCm39) L57Q probably damaging Het
Or52e19b T A 7: 103,032,840 (GRCm39) D123V probably damaging Het
Or5d35 T C 2: 87,855,804 (GRCm39) L246P probably damaging Het
Pirb T A 7: 3,715,661 (GRCm39) M839L probably benign Het
Plcl2 A G 17: 50,914,254 (GRCm39) E421G possibly damaging Het
Ppp1r12b T C 1: 134,876,771 (GRCm39) N99S probably benign Het
Ptpro A G 6: 137,354,130 (GRCm39) K169E probably damaging Het
Rita1 T A 5: 120,749,448 (GRCm39) K88N probably damaging Het
Rptn A T 3: 93,303,776 (GRCm39) K370* probably null Het
Simc1 A G 13: 54,687,576 (GRCm39) D115G probably null Het
Stab1 T A 14: 30,864,000 (GRCm39) N136I probably benign Het
Syt4 T A 18: 31,580,409 (GRCm39) probably benign Het
Sytl2 A T 7: 90,038,106 (GRCm39) N522I probably damaging Het
Tax1bp1 A G 6: 52,706,478 (GRCm39) probably benign Het
Tenm2 A T 11: 35,969,396 (GRCm39) D847E probably damaging Het
Th G T 7: 142,447,834 (GRCm39) D321E probably benign Het
Tmem44 A T 16: 30,359,591 (GRCm39) L46Q probably damaging Het
Trp53bp1 A G 2: 121,087,122 (GRCm39) L178P probably damaging Het
Trp63 A G 16: 25,684,968 (GRCm39) *285W probably null Het
Tsen34 T C 7: 3,697,380 (GRCm39) probably benign Het
Tssk4 C T 14: 55,889,272 (GRCm39) T256I probably benign Het
Ttc17 A T 2: 94,196,954 (GRCm39) N464K probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Ubn1 A G 16: 4,895,177 (GRCm39) E741G probably damaging Het
Urad T A 5: 147,252,264 (GRCm39) I63F probably damaging Het
Vcan T C 13: 89,852,858 (GRCm39) T701A probably benign Het
Vmn2r58 A G 7: 41,486,639 (GRCm39) V752A possibly damaging Het
Vmn2r69 C A 7: 85,060,793 (GRCm39) V264L possibly damaging Het
Zfp292 A G 4: 34,808,917 (GRCm39) S1376P probably damaging Het
Zfp955a G A 17: 33,460,699 (GRCm39) R478* probably null Het
Znfx1 A C 2: 166,897,189 (GRCm39) F578L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GAAGCCAGAAGTCAGCACTG -3'
(R):5'- ATCTGGCCAACCTACCTTTG -3'

Sequencing Primer
(F):5'- CAACACTGGGCATTACTGGTTCAG -3'
(R):5'- GGGACAATTTTCTCTGCAAACAC -3'
Posted On 2016-03-17