Incidental Mutation 'IGL00234:Maml3'
ID 2473
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 # IGL00234
Quality Score
Status
Chromosome 3
Chromosomal Location 51595032-52012740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51598125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 207 (I207T)
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 benign
Transcript: ENSMUST00000118075
AA Change: I207T

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113677
Gene: ENSMUSG00000061143
AA Change: I207T

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 benign
Transcript: ENSMUST00000121440
AA Change: I853T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: I853T

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 T C 17: 34,000,242 (GRCm39) N42S probably damaging Het
Apoc4 A T 7: 19,412,665 (GRCm39) S27T probably benign Het
Atp13a3 T A 16: 30,170,097 (GRCm39) Q363L probably damaging Het
Cfap69 A G 5: 5,667,295 (GRCm39) Y417H probably benign Het
Cry1 A G 10: 84,982,698 (GRCm39) S243P probably benign Het
Epb41l2 A G 10: 25,377,734 (GRCm39) T116A probably damaging Het
Foxb1 A G 9: 69,667,480 (GRCm39) S17P probably damaging Het
Glb1l3 A T 9: 26,764,967 (GRCm39) L148H probably damaging Het
Hnrnpk T C 13: 58,543,111 (GRCm39) probably benign Het
Icam5 G A 9: 20,948,091 (GRCm39) probably null Het
Lats1 A G 10: 7,567,330 (GRCm39) I34V probably damaging Het
Lipc A T 9: 70,727,719 (GRCm39) Y43N possibly damaging Het
Nfatc2 A T 2: 168,346,810 (GRCm39) S761R probably damaging Het
Nubp1 G A 16: 10,240,703 (GRCm39) G280S probably damaging Het
Or4d2 T G 11: 87,784,191 (GRCm39) R186S possibly damaging Het
Pabpc4 A G 4: 123,180,497 (GRCm39) N73S probably damaging Het
Pcsk6 G A 7: 65,577,568 (GRCm39) C163Y probably damaging Het
Phf3 G A 1: 30,850,928 (GRCm39) T1142M probably damaging Het
Prune2 T A 19: 17,145,708 (GRCm39) probably null Het
Psmd7 A G 8: 108,312,342 (GRCm39) V85A probably damaging Het
Rc3h2 A G 2: 37,279,759 (GRCm39) V490A possibly damaging Het
Sh3tc1 A C 5: 35,868,301 (GRCm39) S388A probably damaging Het
Trank1 T C 9: 111,221,677 (GRCm39) F2805L probably damaging Het
Yars2 T C 16: 16,121,185 (GRCm39) L113P probably damaging Het
Zfp82 G A 7: 29,765,755 (GRCm39) S16L probably damaging Het
Other mutations in Maml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02838:Maml3 APN 3 51,597,511 (GRCm39) missense probably damaging 1.00
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 2011-12-09