Incidental Mutation 'IGL02838:Maml3'
ID361736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maml3
Ensembl Gene ENSMUSG00000061143
Gene Namemastermind like transcriptional coactivator 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02838
Quality Score
Status
Chromosome3
Chromosomal Location51685907-52105076 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 51690090 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 412 (F412L)
Ref Sequence ENSEMBL: ENSMUSP00000113677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118075] [ENSMUST00000121440]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099104
Predicted Effect probably damaging
Transcript: ENSMUST00000118075
AA Change: F412L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113677
Gene: ENSMUSG00000061143
AA Change: F412L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 52 68 N/A INTRINSIC
coiled coil region 90 132 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121440
AA Change: F1058L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: F1058L

DomainStartEndE-ValueType
low complexity region 5 11 N/A INTRINSIC
low complexity region 12 32 N/A INTRINSIC
low complexity region 44 65 N/A INTRINSIC
MamL-1 67 126 6.54e-30 SMART
low complexity region 436 454 N/A INTRINSIC
coiled coil region 459 502 N/A INTRINSIC
low complexity region 504 515 N/A INTRINSIC
low complexity region 621 647 N/A INTRINSIC
low complexity region 698 714 N/A INTRINSIC
coiled coil region 736 778 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193403
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl4a T C 12: 40,036,304 E148G probably benign Het
AW551984 A T 9: 39,594,643 F419L probably damaging Het
Brpf3 G A 17: 28,835,784 R1100Q probably benign Het
Cacna1e A G 1: 154,445,648 C1222R probably damaging Het
Cacna2d3 T A 14: 29,300,828 probably null Het
Ccdc146 T A 5: 21,297,569 M775L probably benign Het
Ccdc60 A G 5: 116,134,110 S422P probably damaging Het
Cdh10 A T 15: 18,899,763 N59Y probably damaging Het
Cfap61 T A 2: 145,947,164 C29* probably null Het
Fgd5 T A 6: 91,987,674 M138K probably benign Het
Gpr107 G A 2: 31,214,317 G545S probably benign Het
Greb1l G A 18: 10,560,430 A1897T probably damaging Het
Hcls1 A G 16: 36,962,419 D439G probably damaging Het
Iars T A 13: 49,690,489 N146K possibly damaging Het
Itga5 C T 15: 103,351,609 A619T probably damaging Het
Mis18bp1 T C 12: 65,136,826 Y924C probably damaging Het
Mtss1 T C 15: 59,081,515 I5V probably benign Het
Ninl A T 2: 150,955,711 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Nts C T 10: 102,482,429 V138M probably damaging Het
Olfr1471 T A 19: 13,445,935 S308T probably benign Het
Olfr735 A G 14: 50,345,855 S165P probably damaging Het
Pard3 A G 8: 127,426,647 R900G probably damaging Het
Rbfa T C 18: 80,192,835 H233R probably benign Het
Rundc3a T A 11: 102,397,695 probably benign Het
Setdb1 G T 3: 95,337,268 probably null Het
Synpo T A 18: 60,603,800 N358I probably damaging Het
Tnxb A T 17: 34,689,632 T1543S possibly damaging Het
Ugt1a8 T A 1: 88,088,677 Y271N probably benign Het
Vmn2r105 A C 17: 20,227,585 F326V probably damaging Het
Vps13c G A 9: 67,975,851 R3560H probably damaging Het
Vps13d C T 4: 145,075,025 R3510Q probably benign Het
Zcchc8 A T 5: 123,719,483 probably benign Het
Other mutations in Maml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Maml3 APN 3 51690704 missense probably benign 0.13
IGL01138:Maml3 APN 3 51690558 missense possibly damaging 0.87
IGL02173:Maml3 APN 3 51690787 missense probably damaging 0.96
IGL02220:Maml3 APN 3 51690218 missense possibly damaging 0.94
IGL02725:Maml3 APN 3 52103774 missense probably damaging 0.97
R0683:Maml3 UTSW 3 51856752 nonsense probably null
R1966:Maml3 UTSW 3 52104139 missense unknown
R1980:Maml3 UTSW 3 52104052 missense unknown
R1989:Maml3 UTSW 3 51697758 missense probably damaging 0.98
R1992:Maml3 UTSW 3 51690757 missense probably benign 0.01
R2047:Maml3 UTSW 3 51690445 missense probably damaging 1.00
R2113:Maml3 UTSW 3 51690656 missense probably damaging 1.00
R2876:Maml3 UTSW 3 51690059 missense possibly damaging 0.86
R3176:Maml3 UTSW 3 51856930 missense possibly damaging 0.62
R3276:Maml3 UTSW 3 51856930 missense possibly damaging 0.62
R4191:Maml3 UTSW 3 51689969 missense probably benign
R4576:Maml3 UTSW 3 51856506 nonsense probably null
R4609:Maml3 UTSW 3 51855592 missense probably damaging 1.00
R4628:Maml3 UTSW 3 51796470 intron probably benign
R4734:Maml3 UTSW 3 51689875 missense probably damaging 1.00
R4776:Maml3 UTSW 3 51856532 missense probably benign 0.28
R4868:Maml3 UTSW 3 52103924 nonsense probably null
R4889:Maml3 UTSW 3 51694510 intron probably benign
R4891:Maml3 UTSW 3 51694510 intron probably benign
R4947:Maml3 UTSW 3 51856539 missense probably benign 0.01
R5011:Maml3 UTSW 3 51690775 missense possibly damaging 0.87
R5047:Maml3 UTSW 3 51690841 missense possibly damaging 0.88
R5344:Maml3 UTSW 3 52103725 missense probably damaging 0.99
R5743:Maml3 UTSW 3 52104132 missense unknown
R6724:Maml3 UTSW 3 51855875 missense probably damaging 1.00
R6885:Maml3 UTSW 3 51697579
R6938:Maml3 UTSW 3 52103738 missense probably damaging 0.98
R7581:Maml3 UTSW 3 51856768 missense probably benign 0.06
R7895:Maml3 UTSW 3 51697722 missense probably damaging 1.00
R7978:Maml3 UTSW 3 51697722 missense probably damaging 1.00
R8059:Maml3 UTSW 3 51856689 missense probably damaging 1.00
RF022:Maml3 UTSW 3 51856662 missense probably damaging 1.00
Posted On2015-12-18