Incidental Mutation 'R5344:Maml3'
ID 422475
Institutional Source Beutler Lab
Gene Symbol Maml3
Ensembl Gene ENSMUSG00000061143
Gene Name mastermind like transcriptional coactivator 3
Synonyms
MMRRC Submission 042923-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5344 (G1)
Quality Score 224
Status Validated
Chromosome 3
Chromosomal Location 51595032-52012740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52011146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 140 (D140V)
Ref Sequence ENSEMBL: ENSMUSP00000112637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121440]
AlphaFold D4QGC2
Predicted Effect probably damaging
Transcript: ENSMUST00000121440
AA Change: D140V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: D140V

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
Meta Mutation Damage Score 0.0861 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (67/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T G 12: 71,289,801 (GRCm39) C1499G probably benign Het
Aldoart1 A G 4: 72,770,352 (GRCm39) V152A possibly damaging Het
Alms1 T C 6: 85,673,771 (GRCm39) L3591P probably benign Het
Ankrd12 A T 17: 66,356,843 (GRCm39) M58K probably damaging Het
Asb3 A C 11: 31,051,114 (GRCm39) I523L probably benign Het
Ascl2 T C 7: 142,522,436 (GRCm39) H4R possibly damaging Het
Asic2 T C 11: 80,862,413 (GRCm39) M246V probably damaging Het
Btc A T 5: 91,524,779 (GRCm39) C53S possibly damaging Het
Cdhr5 T C 7: 140,856,437 (GRCm39) I39M probably damaging Het
Cdkn3 T A 14: 47,004,807 (GRCm39) M123K possibly damaging Het
Cebpz A G 17: 79,233,542 (GRCm39) Y762H possibly damaging Het
Ces1g T A 8: 94,063,821 (GRCm39) probably benign Het
Cfap44 T C 16: 44,236,763 (GRCm39) probably null Het
Chd7 G T 4: 8,844,417 (GRCm39) G1537W probably damaging Het
Clca3a2 A T 3: 144,793,703 (GRCm39) D317E probably damaging Het
Clec3a C A 8: 115,149,712 (GRCm39) N56K probably damaging Het
Col11a1 T A 3: 114,002,011 (GRCm39) probably null Het
Cox20 G A 1: 178,149,598 (GRCm39) probably benign Het
Cyp2d22 A G 15: 82,255,839 (GRCm39) V471A possibly damaging Het
D630045J12Rik A G 6: 38,135,163 (GRCm39) V1339A probably damaging Het
Duox2 T C 2: 122,112,352 (GRCm39) D1278G probably benign Het
Epc1 G A 18: 6,450,614 (GRCm39) P284L probably benign Het
Evi5l G T 8: 4,235,990 (GRCm39) R61L possibly damaging Het
Fbln2 T C 6: 91,243,365 (GRCm39) Y914H probably damaging Het
Fbxo44 A G 4: 148,238,030 (GRCm39) S191P probably damaging Het
Fign A G 2: 63,809,569 (GRCm39) I567T probably benign Het
Fryl C T 5: 73,262,117 (GRCm39) R550K probably damaging Het
Gpcpd1 G A 2: 132,400,597 (GRCm39) probably benign Het
Hectd4 T C 5: 121,481,739 (GRCm39) I3096T probably benign Het
Hic2 T A 16: 17,075,712 (GRCm39) D180E probably benign Het
Ibtk A G 9: 85,617,057 (GRCm39) F172L possibly damaging Het
Itga1 A G 13: 115,138,845 (GRCm39) S369P possibly damaging Het
Itgb4 G A 11: 115,880,575 (GRCm39) R675Q probably null Het
Lrrc3b T C 14: 15,358,591 (GRCm38) D5G probably damaging Het
Med21 A G 6: 146,550,683 (GRCm39) T65A probably benign Het
Mta1 T C 12: 113,095,186 (GRCm39) probably benign Het
Mybpc1 T C 10: 88,406,430 (GRCm39) D152G probably damaging Het
Oas1b C A 5: 120,960,269 (GRCm39) Q325K probably benign Het
Or10j27 A G 1: 172,958,673 (GRCm39) L37P probably benign Het
Or2n1c C A 17: 38,519,995 (GRCm39) N286K probably damaging Het
Or5d44 A C 2: 88,141,334 (GRCm39) C269G probably benign Het
Pclo A G 5: 14,726,626 (GRCm39) probably benign Het
Phactr2 C T 10: 13,129,360 (GRCm39) V233I possibly damaging Het
Plekha2 A T 8: 25,533,063 (GRCm39) probably null Het
Reg3b A G 6: 78,349,843 (GRCm39) M128V probably benign Het
Rnaseh2a A G 8: 85,684,735 (GRCm39) probably benign Het
Scn5a T C 9: 119,363,073 (GRCm39) S516G probably benign Het
Serpina12 T A 12: 104,001,807 (GRCm39) probably null Het
Slc10a1 T C 12: 81,000,540 (GRCm39) T320A possibly damaging Het
Slc26a7 A T 4: 14,519,402 (GRCm39) D539E probably benign Het
Specc1l C A 10: 75,082,007 (GRCm39) R485S possibly damaging Het
Srp54b T G 12: 55,302,366 (GRCm39) I339S probably damaging Het
Tada1 G A 1: 166,207,081 (GRCm39) probably benign Het
Trim16 T C 11: 62,711,751 (GRCm39) C54R probably damaging Het
Trio C T 15: 27,735,618 (GRCm39) R2824Q probably benign Het
Ttpa A G 4: 20,021,245 (GRCm39) I138V probably damaging Het
Ubap2 A C 4: 41,251,578 (GRCm39) M18R possibly damaging Het
Usp38 A G 8: 81,712,392 (GRCm39) S548P possibly damaging Het
Vmn2r73 T C 7: 85,525,046 (GRCm39) D34G probably benign Het
Vps13d T A 4: 144,904,904 (GRCm39) H74L probably damaging Het
Zfp408 C T 2: 91,475,588 (GRCm39) C622Y probably benign Het
Zfp616 T C 11: 73,975,321 (GRCm39) I530T possibly damaging Het
Zfp9 C A 6: 118,442,140 (GRCm39) C174F probably damaging Het
Zfyve16 A G 13: 92,658,096 (GRCm39) I605T possibly damaging Het
Zmym5 T C 14: 57,031,519 (GRCm39) T530A probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGAGAAAAGTTGACGTTAACCCTTC -3'
(R):5'- TTGCTCCGAGTGGCAATCAC -3'

Sequencing Primer
(F):5'- AAAAGTTGACGTTAACCCTTCGTCTC -3'
(R):5'- CAAGCACAGCACGGTAGTCG -3'
Posted On 2016-08-04