Incidental Mutation 'R4191:Maml3'
ID 318301
Institutional Source Beutler Lab
Gene Symbol Maml3
Ensembl Gene ENSMUSG00000061143
Gene Name mastermind like transcriptional coactivator 3
Synonyms
MMRRC Submission 041022-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4191 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 51595032-52012740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51597390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1098 (V1098A)
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 probably benign
Transcript: ENSMUST00000118075
AA Change: V452A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113677
Gene: ENSMUSG00000061143
AA Change: V452A

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: V1098A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: V1098A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 95% (57/60)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,207,728 (GRCm39) T22A probably damaging Het
Ache A T 5: 137,289,334 (GRCm39) I347F probably damaging Het
Adgrl1 C G 8: 84,665,569 (GRCm39) R1464G probably benign Het
Cdh11 T C 8: 103,377,380 (GRCm39) D422G probably damaging Het
Cdx1 C T 18: 61,153,510 (GRCm39) S176N possibly damaging Het
Cimip3 C T 17: 47,747,562 (GRCm39) R61H probably damaging Het
Csmd3 T C 15: 47,710,667 (GRCm39) D1536G probably damaging Het
Cyct G T 2: 76,184,535 (GRCm39) P72Q probably damaging Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Disp1 G T 1: 182,870,737 (GRCm39) A561E probably damaging Het
Donson C A 16: 91,485,480 (GRCm39) A41S possibly damaging Het
Gldc T C 19: 30,123,058 (GRCm39) E279G probably damaging Het
Gpr160 A T 3: 30,950,863 (GRCm39) I312F possibly damaging Het
H2-Eb2 G A 17: 34,563,529 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,031,433 (GRCm39) Q457R probably benign Het
Irf2bp2 T C 8: 127,320,084 (GRCm39) D31G probably damaging Het
Klrb1 T A 6: 128,690,597 (GRCm39) K42* probably null Het
Lrrfip1 A T 1: 91,038,121 (GRCm39) E446D probably benign Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Mrgpra4 T C 7: 47,630,867 (GRCm39) S245G probably benign Het
Mybbp1a A G 11: 72,342,113 (GRCm39) E1283G probably damaging Het
Myh2 A G 11: 67,068,226 (GRCm39) S285G possibly damaging Het
Myh7b A G 2: 155,475,319 (GRCm39) D1876G probably benign Het
Nr4a2 T C 2: 57,002,391 (GRCm39) S21G probably damaging Het
Or10d1c T A 9: 38,894,313 (GRCm39) Q9L probably benign Het
Or2y14 T A 11: 49,404,639 (GRCm39) M58K probably damaging Het
Or7g25 A G 9: 19,160,383 (GRCm39) V104A probably benign Het
Or8c11 T A 9: 38,289,648 (GRCm39) M157K probably damaging Het
Or8k18 C A 2: 86,085,666 (GRCm39) V124L probably benign Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk6 T C 7: 65,675,056 (GRCm39) S476P probably damaging Het
Pex10 T C 4: 155,152,362 (GRCm39) probably null Het
Pgf T C 12: 85,218,561 (GRCm39) D63G probably benign Het
Piwil4 A G 9: 14,626,296 (GRCm39) S465P probably damaging Het
Plcb1 A C 2: 135,187,010 (GRCm39) H759P probably damaging Het
Pmfbp1 A T 8: 110,254,260 (GRCm39) M432L probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Rmnd1 A T 10: 4,360,809 (GRCm39) probably benign Het
Ro60 T C 1: 143,646,524 (GRCm39) I74V probably benign Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Svep1 C T 4: 58,046,601 (GRCm39) C3510Y possibly damaging Het
Tanc1 A G 2: 59,669,357 (GRCm39) I1274V probably damaging Het
Tep1 T C 14: 51,074,263 (GRCm39) E1874G probably damaging Het
Tgfbr2 T C 9: 115,939,009 (GRCm39) T298A probably damaging Het
Tlk1 G A 2: 70,555,891 (GRCm39) R423C probably damaging Het
Trp53rkb T C 2: 166,637,395 (GRCm39) I117T probably damaging Het
Ttll9 A G 2: 152,844,927 (GRCm39) T432A probably benign Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Zfp112 A G 7: 23,825,568 (GRCm39) D512G probably benign Het
Zfyve19 A G 2: 119,041,312 (GRCm39) K76R possibly 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
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
Predicted Primers PCR Primer
(F):5'- CAGCCGGATGTCATGTTCTC -3'
(R):5'- CATTGGTCATGCCTGGTCTG -3'

Sequencing Primer
(F):5'- AGCCGGATGTCATGTTCTCAATTTAC -3'
(R):5'- TCTGAGCCAGGGTGTCC -3'
Posted On 2015-06-10