Incidental Mutation 'IGL02336:Maml1'
ID 288841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maml1
Ensembl Gene ENSMUSG00000050567
Gene Name mastermind like transcriptional coactivator 1
Synonyms Mam-1, D930008C07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02336
Quality Score
Status
Chromosome 11
Chromosomal Location 50146461-50183138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50148992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 916 (N916S)
Ref Sequence ENSEMBL: ENSMUSP00000059210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059458]
AlphaFold Q6T264
Predicted Effect probably benign
Transcript: ENSMUST00000059458
AA Change: N916S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: N916S

DomainStartEndE-ValueType
MamL-1 14 73 1.04e-32 SMART
low complexity region 77 102 N/A INTRINSIC
low complexity region 280 291 N/A INTRINSIC
low complexity region 373 383 N/A INTRINSIC
low complexity region 419 435 N/A INTRINSIC
low complexity region 588 600 N/A INTRINSIC
coiled coil region 627 671 N/A INTRINSIC
low complexity region 911 930 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135868
SMART Domains Protein: ENSMUSP00000118188
Gene: ENSMUSG00000050567

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
low complexity region 288 298 N/A INTRINSIC
low complexity region 334 350 N/A INTRINSIC
low complexity region 503 515 N/A INTRINSIC
coiled coil region 541 565 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222498
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality, reduced size, and skeletal muscle degeneration and necrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A G 2: 93,696,253 (GRCm39) V119A possibly damaging Het
Adamts12 T A 15: 11,311,331 (GRCm39) M1196K probably benign Het
Adgre1 T A 17: 57,718,024 (GRCm39) C345* probably null Het
Adrb2 T C 18: 62,312,078 (GRCm39) E249G probably benign Het
Amdhd1 T A 10: 93,360,291 (GRCm39) I423F probably benign Het
Ankhd1 A G 18: 36,727,867 (GRCm39) N501S probably damaging Het
Bltp2 T C 11: 78,179,858 (GRCm39) V2127A probably damaging Het
Cd180 T A 13: 102,841,821 (GRCm39) I289N probably damaging Het
Chst5 T A 8: 112,616,949 (GRCm39) I224F probably damaging Het
Cox6a2 A G 7: 127,805,103 (GRCm39) I60T possibly damaging Het
Dnajc6 C T 4: 101,471,483 (GRCm39) probably null Het
Dpp6 G A 5: 27,674,409 (GRCm39) E179K probably benign Het
Fasn G A 11: 120,704,562 (GRCm39) T1341I possibly damaging Het
Fat1 C T 8: 45,404,620 (GRCm39) T457I probably benign Het
Filip1l A T 16: 57,392,096 (GRCm39) probably null Het
Gje1 A T 10: 14,592,413 (GRCm39) I123N probably damaging Het
Gli3 A G 13: 15,894,874 (GRCm39) T683A probably damaging Het
Gm29326 C A 7: 29,260,833 (GRCm39) noncoding transcript Het
Gm5460 A G 14: 33,765,909 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,200 (GRCm39) S739N probably benign Het
Ighv1-42 T A 12: 114,900,885 (GRCm39) I67F probably damaging Het
Iqgap1 A G 7: 80,402,041 (GRCm39) V408A probably benign Het
Kdm7a A T 6: 39,147,198 (GRCm39) W250R probably damaging Het
Kif5a A G 10: 127,078,565 (GRCm39) I360T possibly damaging Het
Mier2 A T 10: 79,384,184 (GRCm39) probably benign Het
Mpst A T 15: 78,294,474 (GRCm39) T69S probably benign Het
Nlk C A 11: 78,477,763 (GRCm39) V327F probably damaging Het
Nme5 A T 18: 34,711,730 (GRCm39) S4T probably benign Het
Notch2 A G 3: 98,045,711 (GRCm39) I1625M possibly damaging Het
Nup210l T C 3: 90,088,859 (GRCm39) probably null Het
Oas1d A G 5: 121,057,111 (GRCm39) E239G probably damaging Het
Olfm4 T C 14: 80,243,761 (GRCm39) S110P probably damaging Het
Or52e2 T C 7: 102,804,772 (GRCm39) M61V probably benign Het
Parn T A 16: 13,384,567 (GRCm39) I499F probably damaging Het
Ppargc1a G A 5: 51,653,068 (GRCm39) Q165* probably null Het
Ppp1r12b T A 1: 134,814,244 (GRCm39) E353V probably damaging Het
Prkdc A G 16: 15,603,842 (GRCm39) Q2952R possibly damaging Het
Prkdc G T 16: 15,603,843 (GRCm39) Q2952H probably benign Het
Qars1 G T 9: 108,392,185 (GRCm39) E143* probably null Het
Reln A G 5: 22,134,132 (GRCm39) Y2599H probably damaging Het
Rnf123 T C 9: 107,939,041 (GRCm39) E803G probably damaging Het
Rnf141 G A 7: 110,436,405 (GRCm39) Q8* probably null Het
Rnf167 A G 11: 70,540,952 (GRCm39) I193V probably benign Het
Rprd2 A T 3: 95,694,622 (GRCm39) M137K probably benign Het
Rtf1 T G 2: 119,559,226 (GRCm39) probably benign Het
Serpina1d T A 12: 103,731,055 (GRCm39) R308* probably null Het
Smg7 T C 1: 152,719,030 (GRCm39) Y899C probably benign Het
Tbr1 C A 2: 61,635,336 (GRCm39) H95Q possibly damaging Het
Tcf19 A T 17: 35,825,380 (GRCm39) probably null Het
Timm44 T A 8: 4,317,692 (GRCm39) R210W probably damaging Het
Trnau1ap C A 4: 132,041,331 (GRCm39) E194* probably null Het
Trp63 G A 16: 25,639,192 (GRCm39) G127S probably damaging Het
Trrap C T 5: 144,735,200 (GRCm39) A989V probably benign Het
Ttn T C 2: 76,600,326 (GRCm39) D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,229,952 (GRCm39) probably benign Het
Vmn1r77 G A 7: 11,775,223 (GRCm39) probably null Het
Vmn1r80 A G 7: 11,927,181 (GRCm39) Y97C probably benign Het
Vmn2r77 G A 7: 86,451,224 (GRCm39) C370Y probably damaging Het
Xntrpc C A 7: 101,733,492 (GRCm39) A147D probably damaging Het
Zc3h4 C T 7: 16,159,702 (GRCm39) S424F unknown Het
Zcwpw1 T A 5: 137,808,376 (GRCm39) S275T probably damaging Het
Zfp979 C T 4: 147,699,808 (GRCm39) C44Y probably damaging Het
Zscan20 T C 4: 128,479,587 (GRCm39) H968R probably damaging Het
Zswim3 T C 2: 164,662,297 (GRCm39) V259A probably damaging Het
Zzz3 T G 3: 152,133,696 (GRCm39) D251E possibly damaging Het
Other mutations in Maml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Maml1 APN 11 50,149,541 (GRCm39) missense probably damaging 0.97
IGL01326:Maml1 APN 11 50,156,715 (GRCm39) missense probably benign 0.30
IGL01469:Maml1 APN 11 50,157,353 (GRCm39) missense probably damaging 1.00
IGL02690:Maml1 APN 11 50,149,457 (GRCm39) missense probably damaging 1.00
R0674:Maml1 UTSW 11 50,148,885 (GRCm39) missense probably benign 0.28
R1497:Maml1 UTSW 11 50,156,534 (GRCm39) missense possibly damaging 0.51
R1641:Maml1 UTSW 11 50,157,774 (GRCm39) missense probably benign 0.16
R1888:Maml1 UTSW 11 50,157,468 (GRCm39) missense probably benign 0.00
R1888:Maml1 UTSW 11 50,157,468 (GRCm39) missense probably benign 0.00
R1899:Maml1 UTSW 11 50,156,957 (GRCm39) missense probably damaging 1.00
R2496:Maml1 UTSW 11 50,149,371 (GRCm39) missense probably benign
R3913:Maml1 UTSW 11 50,154,259 (GRCm39) missense probably benign 0.00
R4018:Maml1 UTSW 11 50,156,611 (GRCm39) missense probably damaging 1.00
R4091:Maml1 UTSW 11 50,182,656 (GRCm39) missense probably benign 0.00
R4202:Maml1 UTSW 11 50,148,740 (GRCm39) missense probably damaging 1.00
R4205:Maml1 UTSW 11 50,148,740 (GRCm39) missense probably damaging 1.00
R4716:Maml1 UTSW 11 50,148,694 (GRCm39) missense probably benign 0.01
R4816:Maml1 UTSW 11 50,149,162 (GRCm39) missense possibly damaging 0.68
R5338:Maml1 UTSW 11 50,157,778 (GRCm39) missense probably benign 0.11
R5460:Maml1 UTSW 11 50,157,180 (GRCm39) missense probably benign 0.36
R6701:Maml1 UTSW 11 50,157,509 (GRCm39) missense probably damaging 1.00
R7336:Maml1 UTSW 11 50,157,276 (GRCm39) missense possibly damaging 0.77
R8736:Maml1 UTSW 11 50,148,726 (GRCm39) missense possibly damaging 0.94
R8987:Maml1 UTSW 11 50,157,575 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16