Incidental Mutation 'IGL02838:Maml3'
ID 361736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maml3
Ensembl Gene ENSMUSG00000061143
Gene Name mastermind like transcriptional coactivator 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02838
Quality Score
Status
Chromosome 3
Chromosomal Location 51595032-52012740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51597511 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold D4QGC2
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: 40,086,303 (GRCm39) E148G probably benign Het
AW551984 A T 9: 39,505,939 (GRCm39) F419L probably damaging Het
Brpf3 G A 17: 29,054,758 (GRCm39) R1100Q probably benign Het
Cacna1e A G 1: 154,321,394 (GRCm39) C1222R probably damaging Het
Cacna2d3 T A 14: 29,022,785 (GRCm39) probably null Het
Ccdc146 T A 5: 21,502,567 (GRCm39) M775L probably benign Het
Ccdc60 A G 5: 116,272,169 (GRCm39) S422P probably damaging Het
Cdh10 A T 15: 18,899,849 (GRCm39) N59Y probably damaging Het
Cfap61 T A 2: 145,789,084 (GRCm39) C29* probably null Het
Fgd5 T A 6: 91,964,655 (GRCm39) M138K probably benign Het
Gpr107 G A 2: 31,104,329 (GRCm39) G545S probably benign Het
Greb1l G A 18: 10,560,430 (GRCm39) A1897T probably damaging Het
Hcls1 A G 16: 36,782,781 (GRCm39) D439G probably damaging Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Itga5 C T 15: 103,260,036 (GRCm39) A619T probably damaging Het
Mis18bp1 T C 12: 65,183,600 (GRCm39) Y924C probably damaging Het
Mtss1 T C 15: 58,953,364 (GRCm39) I5V probably benign Het
Ninl A T 2: 150,797,631 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Nts C T 10: 102,318,290 (GRCm39) V138M probably damaging Het
Or4q3 A G 14: 50,583,312 (GRCm39) S165P probably damaging Het
Or5b116 T A 19: 13,423,299 (GRCm39) S308T probably benign Het
Pard3 A G 8: 128,153,128 (GRCm39) R900G probably damaging Het
Rbfa T C 18: 80,236,050 (GRCm39) H233R probably benign Het
Rundc3a T A 11: 102,288,521 (GRCm39) probably benign Het
Setdb1 G T 3: 95,244,579 (GRCm39) probably null Het
Synpo T A 18: 60,736,872 (GRCm39) N358I probably damaging Het
Tnxb A T 17: 34,908,606 (GRCm39) T1543S possibly damaging Het
Ugt1a8 T A 1: 88,016,399 (GRCm39) Y271N probably benign Het
Vmn2r105 A C 17: 20,447,847 (GRCm39) F326V probably damaging Het
Vps13c G A 9: 67,883,133 (GRCm39) R3560H probably damaging Het
Vps13d C T 4: 144,801,595 (GRCm39) R3510Q probably benign Het
Zcchc8 A T 5: 123,857,546 (GRCm39) probably benign Het
Other mutations in Maml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Maml3 APN 3 51,598,125 (GRCm39) missense probably benign 0.13
IGL01138:Maml3 APN 3 51,597,979 (GRCm39) missense possibly damaging 0.87
IGL02173:Maml3 APN 3 51,598,208 (GRCm39) missense probably damaging 0.96
IGL02220:Maml3 APN 3 51,597,639 (GRCm39) missense possibly damaging 0.94
IGL02725:Maml3 APN 3 52,011,195 (GRCm39) missense probably damaging 0.97
R0683:Maml3 UTSW 3 51,764,173 (GRCm39) nonsense probably null
R1966:Maml3 UTSW 3 52,011,560 (GRCm39) missense unknown
R1980:Maml3 UTSW 3 52,011,473 (GRCm39) missense unknown
R1989:Maml3 UTSW 3 51,605,179 (GRCm39) missense probably damaging 0.98
R1992:Maml3 UTSW 3 51,598,178 (GRCm39) missense probably benign 0.01
R2047:Maml3 UTSW 3 51,597,866 (GRCm39) missense probably damaging 1.00
R2113:Maml3 UTSW 3 51,598,077 (GRCm39) missense probably damaging 1.00
R2876:Maml3 UTSW 3 51,597,480 (GRCm39) missense possibly damaging 0.86
R3176:Maml3 UTSW 3 51,764,351 (GRCm39) missense possibly damaging 0.62
R3276:Maml3 UTSW 3 51,764,351 (GRCm39) missense possibly damaging 0.62
R4191:Maml3 UTSW 3 51,597,390 (GRCm39) missense probably benign
R4576:Maml3 UTSW 3 51,763,927 (GRCm39) nonsense probably null
R4609:Maml3 UTSW 3 51,763,013 (GRCm39) missense probably damaging 1.00
R4628:Maml3 UTSW 3 51,703,891 (GRCm39) intron probably benign
R4734:Maml3 UTSW 3 51,597,296 (GRCm39) missense probably damaging 1.00
R4776:Maml3 UTSW 3 51,763,953 (GRCm39) missense probably benign 0.28
R4868:Maml3 UTSW 3 52,011,345 (GRCm39) nonsense probably null
R4889:Maml3 UTSW 3 51,601,931 (GRCm39) intron probably benign
R4891:Maml3 UTSW 3 51,601,931 (GRCm39) intron probably benign
R4947:Maml3 UTSW 3 51,763,960 (GRCm39) missense probably benign 0.01
R5011:Maml3 UTSW 3 51,598,196 (GRCm39) missense possibly damaging 0.87
R5047:Maml3 UTSW 3 51,598,262 (GRCm39) missense possibly damaging 0.88
R5344:Maml3 UTSW 3 52,011,146 (GRCm39) missense probably damaging 0.99
R5743:Maml3 UTSW 3 52,011,553 (GRCm39) missense unknown
R6724:Maml3 UTSW 3 51,763,296 (GRCm39) missense probably damaging 1.00
R6885:Maml3 UTSW 3 51,605,000 (GRCm39)
R6938:Maml3 UTSW 3 52,011,159 (GRCm39) missense probably damaging 0.98
R7581:Maml3 UTSW 3 51,764,189 (GRCm39) missense probably benign 0.06
R7895:Maml3 UTSW 3 51,605,143 (GRCm39) missense probably damaging 1.00
R8059:Maml3 UTSW 3 51,764,110 (GRCm39) missense probably damaging 1.00
R8404:Maml3 UTSW 3 51,598,077 (GRCm39) missense probably damaging 1.00
R8551:Maml3 UTSW 3 51,764,488 (GRCm39) missense probably benign 0.14
R8987:Maml3 UTSW 3 51,597,868 (GRCm39) missense probably damaging 1.00
R9291:Maml3 UTSW 3 51,764,328 (GRCm39) missense probably benign 0.27
R9548:Maml3 UTSW 3 51,763,791 (GRCm39) missense possibly damaging 0.81
RF022:Maml3 UTSW 3 51,764,083 (GRCm39) missense probably damaging 1.00
Z1192:Maml3 UTSW 3 51,763,165 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18