Incidental Mutation 'IGL01326:Maml1'
ID74257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maml1
Ensembl Gene ENSMUSG00000050567
Gene Namemastermind like transcriptional coactivator 1
SynonymsD930008C07Rik, Mam-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01326
Quality Score
Status
Chromosome11
Chromosomal Location50255634-50292311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 50265888 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 487 (P487S)
Ref Sequence ENSEMBL: ENSMUSP00000059210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059458]
Predicted Effect probably benign
Transcript: ENSMUST00000059458
AA Change: P487S

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: P487S

DomainStartEndE-ValueType
MamL-1 14 73 1.04e-32 SMART
low complexity region 77 102 N/A INTRINSIC
low complexity region 280 291 N/A INTRINSIC
low complexity region 373 383 N/A INTRINSIC
low complexity region 419 435 N/A INTRINSIC
low complexity region 588 600 N/A INTRINSIC
coiled coil region 627 671 N/A INTRINSIC
low complexity region 911 930 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000135868
AA Change: P401S
SMART Domains Protein: ENSMUSP00000118188
Gene: ENSMUSG00000050567
AA Change: P401S

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
low complexity region 288 298 N/A INTRINSIC
low complexity region 334 350 N/A INTRINSIC
low complexity region 503 515 N/A INTRINSIC
coiled coil region 541 565 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222498
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality, reduced size, and skeletal muscle degeneration and necrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atg2b C T 12: 105,622,144 A1936T probably damaging Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
C8a T C 4: 104,856,420 Y171C probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdk4 A G 10: 127,064,623 D86G possibly damaging Het
Cdr2l G T 11: 115,390,970 R100S probably benign Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fam102b A G 3: 108,979,785 V299A possibly damaging Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Marc2 T C 1: 184,833,851 probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfm1 T C 2: 28,229,552 Y385H probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Ptpn11 T C 5: 121,143,136 D493G probably damaging Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Saxo2 T C 7: 82,648,405 I9V probably benign Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in Maml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Maml1 APN 11 50258714 missense probably damaging 0.97
IGL01469:Maml1 APN 11 50266526 missense probably damaging 1.00
IGL02336:Maml1 APN 11 50258165 missense probably benign 0.00
IGL02690:Maml1 APN 11 50258630 missense probably damaging 1.00
R0674:Maml1 UTSW 11 50258058 missense probably benign 0.28
R1497:Maml1 UTSW 11 50265707 missense possibly damaging 0.51
R1641:Maml1 UTSW 11 50266947 missense probably benign 0.16
R1888:Maml1 UTSW 11 50266641 missense probably benign 0.00
R1888:Maml1 UTSW 11 50266641 missense probably benign 0.00
R1899:Maml1 UTSW 11 50266130 missense probably damaging 1.00
R2496:Maml1 UTSW 11 50258544 missense probably benign
R3913:Maml1 UTSW 11 50263432 missense probably benign 0.00
R4018:Maml1 UTSW 11 50265784 missense probably damaging 1.00
R4091:Maml1 UTSW 11 50291829 missense probably benign 0.00
R4202:Maml1 UTSW 11 50257913 missense probably damaging 1.00
R4205:Maml1 UTSW 11 50257913 missense probably damaging 1.00
R4716:Maml1 UTSW 11 50257867 missense probably benign 0.01
R4816:Maml1 UTSW 11 50258335 missense possibly damaging 0.68
R5338:Maml1 UTSW 11 50266951 missense probably benign 0.11
R5460:Maml1 UTSW 11 50266353 missense probably benign 0.36
R6701:Maml1 UTSW 11 50266682 missense probably damaging 1.00
R7336:Maml1 UTSW 11 50266449 missense possibly damaging 0.77
R8736:Maml1 UTSW 11 50257899 missense possibly damaging 0.94
Posted On2013-10-07