Incidental Mutation 'IGL01646:Mllt10'
ID102682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mllt10
Ensembl Gene ENSMUSG00000026743
Gene Namemyeloid/lymphoid or mixed-lineage leukemia; translocated to, 10
SynonymsAf10, D630001B22Rik, B130021D15Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.669) question?
Stock #IGL01646
Quality Score
Status
Chromosome2
Chromosomal Location18055237-18212388 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 18122317 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 82 (H82N)
Ref Sequence ENSEMBL: ENSMUSP00000110319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028076] [ENSMUST00000114669] [ENSMUST00000114671] [ENSMUST00000114680]
Predicted Effect probably benign
Transcript: ENSMUST00000028076
AA Change: H160N

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028076
Gene: ENSMUSG00000026743
AA Change: H160N

DomainStartEndE-ValueType
PHD 24 72 8.51e-8 SMART
PHD 136 195 2.92e-6 SMART
low complexity region 217 248 N/A INTRINSIC
low complexity region 258 274 N/A INTRINSIC
low complexity region 308 326 N/A INTRINSIC
low complexity region 352 372 N/A INTRINSIC
low complexity region 490 515 N/A INTRINSIC
low complexity region 581 594 N/A INTRINSIC
low complexity region 609 627 N/A INTRINSIC
low complexity region 674 692 N/A INTRINSIC
coiled coil region 741 782 N/A INTRINSIC
low complexity region 836 879 N/A INTRINSIC
low complexity region 941 952 N/A INTRINSIC
low complexity region 966 986 N/A INTRINSIC
low complexity region 997 1018 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114669
SMART Domains Protein: ENSMUSP00000110317
Gene: ENSMUSG00000026743

DomainStartEndE-ValueType
low complexity region 38 51 N/A INTRINSIC
low complexity region 66 84 N/A INTRINSIC
low complexity region 131 149 N/A INTRINSIC
coiled coil region 198 239 N/A INTRINSIC
low complexity region 293 336 N/A INTRINSIC
low complexity region 398 409 N/A INTRINSIC
low complexity region 423 443 N/A INTRINSIC
low complexity region 454 475 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114671
AA Change: H82N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110319
Gene: ENSMUSG00000026743
AA Change: H82N

DomainStartEndE-ValueType
PHD 58 117 2.92e-6 SMART
low complexity region 139 170 N/A INTRINSIC
low complexity region 180 196 N/A INTRINSIC
low complexity region 230 248 N/A INTRINSIC
low complexity region 274 294 N/A INTRINSIC
low complexity region 412 437 N/A INTRINSIC
low complexity region 503 516 N/A INTRINSIC
low complexity region 531 549 N/A INTRINSIC
low complexity region 596 614 N/A INTRINSIC
coiled coil region 663 704 N/A INTRINSIC
low complexity region 758 801 N/A INTRINSIC
low complexity region 863 874 N/A INTRINSIC
low complexity region 888 908 N/A INTRINSIC
low complexity region 919 940 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114680
AA Change: H160N

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110328
Gene: ENSMUSG00000026743
AA Change: H160N

DomainStartEndE-ValueType
PHD 24 72 8.51e-8 SMART
PHD 136 195 2.92e-6 SMART
low complexity region 217 248 N/A INTRINSIC
low complexity region 258 274 N/A INTRINSIC
low complexity region 308 326 N/A INTRINSIC
low complexity region 352 372 N/A INTRINSIC
low complexity region 490 515 N/A INTRINSIC
low complexity region 581 594 N/A INTRINSIC
low complexity region 609 627 N/A INTRINSIC
low complexity region 674 692 N/A INTRINSIC
coiled coil region 741 782 N/A INTRINSIC
low complexity region 836 879 N/A INTRINSIC
low complexity region 941 952 N/A INTRINSIC
low complexity region 966 986 N/A INTRINSIC
low complexity region 997 1018 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154041
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik T A 18: 57,667,345 C171* probably null Het
Ambp C T 4: 63,148,740 V188I probably benign Het
Bbs9 G T 9: 22,670,925 E638* probably null Het
Bmp6 A G 13: 38,498,928 M465V probably damaging Het
Cemip T C 7: 83,983,232 E374G possibly damaging Het
Cnbd1 A T 4: 18,895,141 Y200* probably null Het
Cox6b1 G T 7: 30,624,504 Y34* probably null Het
Cyp2d26 A C 15: 82,791,418 I303M probably benign Het
Diaph1 T A 18: 37,893,416 probably null Het
Dmp1 T C 5: 104,211,865 S136P probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Eea1 A G 10: 95,997,015 T241A probably damaging Het
Erap1 C A 13: 74,666,172 T25K probably damaging Het
Fras1 A G 5: 96,758,148 E3137G probably benign Het
Fryl C T 5: 73,022,501 probably null Het
Gldc T G 19: 30,100,765 D944A possibly damaging Het
Grm5 A G 7: 88,040,059 Y546C probably damaging Het
Igkv1-122 G A 6: 68,016,744 M1I probably null Het
Jag2 G A 12: 112,916,349 P380S possibly damaging Het
Kcnc2 T C 10: 112,272,406 probably null Het
Kmt2a T C 9: 44,825,484 probably benign Het
Lrrc55 A G 2: 85,191,989 V286A probably damaging Het
Myh11 C A 16: 14,221,775 R837L probably damaging Het
Nsg1 C A 5: 38,155,691 D55Y probably damaging Het
Nup107 C A 10: 117,781,342 R221M probably damaging Het
Nup153 G T 13: 46,684,107 A1213D possibly damaging Het
Ovgp1 G A 3: 105,978,349 G174S probably damaging Het
Papss2 C T 19: 32,652,082 A357V probably benign Het
Pclo A G 5: 14,713,867 K4118R unknown Het
Pde2a T C 7: 101,507,711 I628T possibly damaging Het
Pla2r1 A G 2: 60,495,364 W521R probably damaging Het
Pld1 A T 3: 28,099,664 Q744L probably damaging Het
Pnpo T A 11: 96,938,949 E251V possibly damaging Het
Rdh10 C T 1: 16,108,022 H173Y possibly damaging Het
Sgpp2 A T 1: 78,416,896 I179F probably damaging Het
Slc11a1 C T 1: 74,384,740 P409L probably damaging Het
Slc35b4 T A 6: 34,158,429 N316I probably benign Het
Snrnp200 A G 2: 127,222,228 I712V probably benign Het
Spr T C 6: 85,134,240 D216G possibly damaging Het
Sri G A 5: 8,063,755 probably null Het
Tas2r124 T C 6: 132,755,369 S214P probably damaging Het
Tg T A 15: 66,678,087 S233T probably damaging Het
Tgfbr3 A T 5: 107,121,413 probably benign Het
Vmn2r45 A G 7: 8,483,338 F317S probably benign Het
Vmn2r99 C A 17: 19,393,658 probably benign Het
Zfp957 T C 14: 79,213,891 E156G probably benign Het
Other mutations in Mllt10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02366:Mllt10 APN 2 18065087 missense probably damaging 0.99
IGL02990:Mllt10 APN 2 18123711 splice site probably benign
IGL03034:Mllt10 APN 2 18065036 start codon destroyed probably null 0.55
R0348:Mllt10 UTSW 2 18162613 missense probably damaging 1.00
R0487:Mllt10 UTSW 2 18207137 missense probably damaging 0.98
R0492:Mllt10 UTSW 2 18146887 splice site probably benign
R0518:Mllt10 UTSW 2 18071206 critical splice donor site probably null
R0720:Mllt10 UTSW 2 18196595 missense probably benign
R0733:Mllt10 UTSW 2 18203766 intron probably benign
R1532:Mllt10 UTSW 2 18092835 critical splice donor site probably null
R1665:Mllt10 UTSW 2 18208790 missense possibly damaging 0.93
R1768:Mllt10 UTSW 2 18162846 missense probably damaging 1.00
R2098:Mllt10 UTSW 2 18162653 missense possibly damaging 0.50
R2114:Mllt10 UTSW 2 18162569 missense probably benign
R2116:Mllt10 UTSW 2 18162569 missense probably benign
R2117:Mllt10 UTSW 2 18162569 missense probably benign
R2179:Mllt10 UTSW 2 18210793 missense probably damaging 1.00
R2192:Mllt10 UTSW 2 18207060 missense probably benign 0.11
R2510:Mllt10 UTSW 2 18065124 missense possibly damaging 0.94
R2511:Mllt10 UTSW 2 18065124 missense possibly damaging 0.94
R4669:Mllt10 UTSW 2 18203633 missense probably damaging 1.00
R5004:Mllt10 UTSW 2 18170268 missense probably damaging 1.00
R5072:Mllt10 UTSW 2 18109874 missense possibly damaging 0.72
R5187:Mllt10 UTSW 2 18208774 nonsense probably null
R5561:Mllt10 UTSW 2 18109845 missense probably damaging 0.98
R6141:Mllt10 UTSW 2 18210793 missense probably damaging 1.00
R6352:Mllt10 UTSW 2 18123793 missense probably damaging 1.00
R6844:Mllt10 UTSW 2 18159483 missense probably benign 0.02
R7060:Mllt10 UTSW 2 18159560 missense possibly damaging 0.64
R7464:Mllt10 UTSW 2 18170279 missense probably benign
Posted On2014-01-21