Incidental Mutation 'IGL01138:Maml3'
ID 50788
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 # IGL01138
Quality Score
Status
Chromosome 3
Chromosomal Location 51595032-52012740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51597979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 902 (S902P)
Ref Sequence ENSEMBL: ENSMUSP00000112637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118075] [ENSMUST00000121440]
AlphaFold D4QGC2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099104
Predicted Effect possibly damaging
Transcript: ENSMUST00000118075
AA Change: S256P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113677
Gene: ENSMUSG00000061143
AA Change: S256P

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 possibly damaging
Transcript: ENSMUST00000121440
AA Change: S902P

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: S902P

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,002,673 (GRCm39) V27A probably benign Het
Abcg5 T A 17: 84,972,275 (GRCm39) R499S possibly damaging Het
Adamts13 T C 2: 26,873,054 (GRCm39) S341P probably damaging Het
Adgrg1 T A 8: 95,730,085 (GRCm39) C96S probably damaging Het
Arhgap44 A G 11: 64,932,275 (GRCm39) F215S probably damaging Het
Arhgef25 A G 10: 127,020,039 (GRCm39) F400L probably damaging Het
Baz1a T C 12: 54,977,110 (GRCm39) E384G probably damaging Het
Col12a1 T C 9: 79,585,335 (GRCm39) D1314G probably damaging Het
Col6a3 T A 1: 90,735,232 (GRCm39) I806F probably damaging Het
Coro1c G A 5: 113,990,222 (GRCm39) probably benign Het
Dnmt3b A T 2: 153,503,361 (GRCm39) D4V probably benign Het
Ermn G T 2: 57,942,707 (GRCm39) L8M possibly damaging Het
F13b T A 1: 139,444,950 (GRCm39) N533K probably damaging Het
Fam171a1 T C 2: 3,203,657 (GRCm39) V93A possibly damaging Het
Gpr107 T A 2: 31,062,028 (GRCm39) L152Q probably benign Het
Guca1a C A 17: 47,711,309 (GRCm39) E12D probably damaging Het
Igtp A G 11: 58,096,970 (GRCm39) N47S possibly damaging Het
Lratd2 T A 15: 60,694,967 (GRCm39) I260F probably damaging Het
Lrrc8e A G 8: 4,284,084 (GRCm39) N103S probably damaging Het
Lsmem1 A G 12: 40,230,698 (GRCm39) L68P probably damaging Het
Mkln1 A T 6: 31,409,925 (GRCm39) N188Y probably damaging Het
Mlxip C T 5: 123,588,219 (GRCm39) R771W probably damaging Het
Myf6 T C 10: 107,330,259 (GRCm39) R103G probably damaging Het
Ncam2 T A 16: 81,314,467 (GRCm39) I481K probably damaging Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Nup205 G T 6: 35,185,019 (GRCm39) E813* probably null Het
Or13c7c A G 4: 43,835,617 (GRCm39) L291P probably damaging Het
Plekhg5 C T 4: 152,191,435 (GRCm39) R410W probably damaging Het
Pnma8b C A 7: 16,679,088 (GRCm39) T24K unknown Het
Polq A T 16: 36,866,231 (GRCm39) Y476F possibly damaging Het
Prkd2 T C 7: 16,582,736 (GRCm39) S200P probably damaging Het
Rif1 C A 2: 52,001,534 (GRCm39) L1663I probably damaging Het
Serpina5 A G 12: 104,070,003 (GRCm39) Y300C possibly damaging Het
Shroom4 T C X: 6,497,257 (GRCm39) S806P probably damaging Het
Sirpa T C 2: 129,472,085 (GRCm39) V290A probably damaging Het
Slc25a47 C T 12: 108,821,948 (GRCm39) R246C probably damaging Het
Slc9a6 A G X: 55,668,791 (GRCm39) D199G probably damaging Het
Smarca5 T A 8: 81,427,705 (GRCm39) K1048M possibly damaging Het
Sos2 C T 12: 69,663,623 (GRCm39) probably benign Het
Trpm5 T A 7: 142,628,306 (GRCm39) M990L probably benign Het
Vmn2r99 A T 17: 19,602,885 (GRCm39) T547S probably damaging Het
Vps13b T C 15: 35,446,916 (GRCm39) probably benign Het
Zfp994 G A 17: 22,421,649 (GRCm39) probably benign Het
Other mutations in Maml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Maml3 APN 3 51,598,125 (GRCm39) missense probably benign 0.13
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 2013-06-21