Incidental Mutation 'IGL01326:Maml1'
ID 74257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maml1
Ensembl Gene ENSMUSG00000050567
Gene Name mastermind like transcriptional coactivator 1
Synonyms Mam-1, D930008C07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01326
Quality Score
Status
Chromosome 11
Chromosomal Location 50146461-50183138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50156715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 487 (P487S)
Ref Sequence ENSEMBL: ENSMUSP00000059210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059458]
AlphaFold Q6T264
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: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Maml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Maml1 APN 11 50,149,541 (GRCm39) missense probably damaging 0.97
IGL01469:Maml1 APN 11 50,157,353 (GRCm39) missense probably damaging 1.00
IGL02336:Maml1 APN 11 50,148,992 (GRCm39) missense probably benign 0.00
IGL02690:Maml1 APN 11 50,149,457 (GRCm39) missense probably damaging 1.00
R0674:Maml1 UTSW 11 50,148,885 (GRCm39) missense probably benign 0.28
R1497:Maml1 UTSW 11 50,156,534 (GRCm39) missense possibly damaging 0.51
R1641:Maml1 UTSW 11 50,157,774 (GRCm39) missense probably benign 0.16
R1888:Maml1 UTSW 11 50,157,468 (GRCm39) missense probably benign 0.00
R1888:Maml1 UTSW 11 50,157,468 (GRCm39) missense probably benign 0.00
R1899:Maml1 UTSW 11 50,156,957 (GRCm39) missense probably damaging 1.00
R2496:Maml1 UTSW 11 50,149,371 (GRCm39) missense probably benign
R3913:Maml1 UTSW 11 50,154,259 (GRCm39) missense probably benign 0.00
R4018:Maml1 UTSW 11 50,156,611 (GRCm39) missense probably damaging 1.00
R4091:Maml1 UTSW 11 50,182,656 (GRCm39) missense probably benign 0.00
R4202:Maml1 UTSW 11 50,148,740 (GRCm39) missense probably damaging 1.00
R4205:Maml1 UTSW 11 50,148,740 (GRCm39) missense probably damaging 1.00
R4716:Maml1 UTSW 11 50,148,694 (GRCm39) missense probably benign 0.01
R4816:Maml1 UTSW 11 50,149,162 (GRCm39) missense possibly damaging 0.68
R5338:Maml1 UTSW 11 50,157,778 (GRCm39) missense probably benign 0.11
R5460:Maml1 UTSW 11 50,157,180 (GRCm39) missense probably benign 0.36
R6701:Maml1 UTSW 11 50,157,509 (GRCm39) missense probably damaging 1.00
R7336:Maml1 UTSW 11 50,157,276 (GRCm39) missense possibly damaging 0.77
R8736:Maml1 UTSW 11 50,148,726 (GRCm39) missense possibly damaging 0.94
R8987:Maml1 UTSW 11 50,157,575 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07