Incidental Mutation 'IGL02120:Runx1t1'
ID 280548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Runx1t1
Ensembl Gene ENSMUSG00000006586
Gene Name RUNX1 translocation partner 1
Synonyms ETO, Cbfa2t1h, MTG8
Accession Numbers
Essential gene? Probably essential (E-score: 0.837) question?
Stock # IGL02120
Quality Score
Status
Chromosome 4
Chromosomal Location 13743436-13893649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13846884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 223 (T223S)
Ref Sequence ENSEMBL: ENSMUSP00000127109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006761] [ENSMUST00000098256] [ENSMUST00000098257] [ENSMUST00000105566]
AlphaFold Q61909
Predicted Effect probably benign
Transcript: ENSMUST00000006761
AA Change: T203S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586
AA Change: T203S

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 68 96 N/A INTRINSIC
TAFH 102 192 1.12e-53 SMART
low complexity region 266 277 N/A INTRINSIC
Pfam:NHR2 317 383 6.9e-42 PFAM
SCOP:d1gpua1 384 454 7e-3 SMART
PDB:2KYG|C 417 447 2e-12 PDB
Pfam:zf-MYND 495 531 4e-10 PFAM
low complexity region 543 558 N/A INTRINSIC
low complexity region 562 583 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098256
AA Change: T196S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586
AA Change: T196S

DomainStartEndE-ValueType
low complexity region 25 41 N/A INTRINSIC
low complexity region 61 89 N/A INTRINSIC
TAFH 95 185 1.12e-53 SMART
low complexity region 259 270 N/A INTRINSIC
Pfam:NHR2 310 376 7.3e-42 PFAM
SCOP:d1gpua1 377 447 7e-3 SMART
PDB:2KYG|C 410 440 2e-12 PDB
Pfam:zf-MYND 488 524 2.5e-10 PFAM
low complexity region 536 551 N/A INTRINSIC
low complexity region 555 576 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098257
AA Change: T223S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586
AA Change: T223S

DomainStartEndE-ValueType
low complexity region 52 68 N/A INTRINSIC
low complexity region 88 116 N/A INTRINSIC
TAFH 122 212 1.12e-53 SMART
low complexity region 286 297 N/A INTRINSIC
Pfam:NHR2 337 403 5.2e-43 PFAM
SCOP:d1gpua1 404 474 7e-3 SMART
PDB:2KYG|C 437 467 2e-12 PDB
Pfam:zf-MYND 515 551 6.7e-10 PFAM
low complexity region 563 578 N/A INTRINSIC
low complexity region 582 603 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105566
AA Change: T223S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586
AA Change: T223S

DomainStartEndE-ValueType
low complexity region 52 68 N/A INTRINSIC
low complexity region 88 116 N/A INTRINSIC
TAFH 122 212 1.12e-53 SMART
low complexity region 286 297 N/A INTRINSIC
Pfam:NHR2 337 403 3.6e-42 PFAM
SCOP:d1gpua1 404 474 7e-3 SMART
PDB:2KYG|C 437 467 2e-12 PDB
Pfam:zf-MYND 515 551 1.4e-10 PFAM
low complexity region 563 578 N/A INTRINSIC
low complexity region 582 603 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150583
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 member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous disruption of this gene results in increased perinatal lethality and surviving animals show severe growth retardation. The midgut is absent in 25% of mutant animals which could explain increased perinatal mortality. Surviving animals display thinned intestinal walls and dilated lumens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,087,654 (GRCm39) Y1037C probably damaging Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ankrd33b T C 15: 31,367,202 (GRCm39) T113A possibly damaging Het
Aox3 T A 1: 58,166,809 (GRCm39) N177K probably benign Het
Arhgap29 T A 3: 121,797,906 (GRCm39) V532E probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Caskin1 G T 17: 24,719,916 (GRCm39) G401V probably damaging Het
Cemip A T 7: 83,600,771 (GRCm39) M950K probably damaging Het
Cfap107 C T 4: 144,144,981 (GRCm39) R195H probably benign Het
Chrd T C 16: 20,553,291 (GRCm39) V211A probably damaging Het
Ckap2l T C 2: 129,127,542 (GRCm39) N212S possibly damaging Het
Clip1 T C 5: 123,785,946 (GRCm39) D246G probably damaging Het
Dlst T C 12: 85,165,342 (GRCm39) S82P probably benign Het
Dmxl1 T A 18: 50,027,245 (GRCm39) L2118M possibly damaging Het
Dnah7a T C 1: 53,534,876 (GRCm39) K2795E possibly damaging Het
Enpp5 T A 17: 44,391,736 (GRCm39) M55K probably benign Het
Epdr1 A T 13: 19,778,641 (GRCm39) S50T probably damaging Het
Gm7808 T A 9: 19,839,313 (GRCm39) probably benign Het
Huwe1 T A X: 150,690,386 (GRCm39) F2485I possibly damaging Het
Kcnb2 C T 1: 15,780,085 (GRCm39) T319M probably damaging Het
Lama1 G A 17: 68,023,784 (GRCm39) V60M probably damaging Het
Lingo3 A T 10: 80,671,693 (GRCm39) L79Q probably damaging Het
Magi2 T A 5: 20,433,451 (GRCm39) probably null Het
Mob2 C A 7: 141,564,035 (GRCm39) V33L possibly damaging Het
Mus81 G A 19: 5,535,661 (GRCm39) probably benign Het
Nup210l G A 3: 90,044,169 (GRCm39) G490D probably damaging Het
Or13n4 A C 7: 106,422,905 (GRCm39) V276G possibly damaging Het
Pbp2 A G 6: 135,286,816 (GRCm39) V177A probably damaging Het
Pomt2 T C 12: 87,158,326 (GRCm39) D656G probably benign Het
Ppp2r1b A G 9: 50,773,069 (GRCm39) probably benign Het
Prp2rt G T 13: 97,235,285 (GRCm39) probably benign Het
Ptprq T C 10: 107,503,333 (GRCm39) E775G probably damaging Het
Rad54l T C 4: 115,956,181 (GRCm39) I549V probably benign Het
Ranbp10 T C 8: 106,532,214 (GRCm39) Y145C probably damaging Het
Stxbp6 G T 12: 44,948,831 (GRCm39) probably benign Het
Syne2 A G 12: 75,993,480 (GRCm39) D2085G probably damaging Het
Szt2 C T 4: 118,245,761 (GRCm39) R1064Q probably benign Het
Taar3 A G 10: 23,826,065 (GRCm39) T204A probably benign Het
Tdpoz1 A G 3: 93,577,750 (GRCm39) S345P probably damaging Het
Tgm4 T A 9: 122,875,594 (GRCm39) I149N probably damaging Het
Tubal3 T A 13: 3,980,675 (GRCm39) I129N probably damaging Het
Vegfc T C 8: 54,634,436 (GRCm39) F372L possibly damaging Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vwf C A 6: 125,592,997 (GRCm39) L786M probably benign Het
Other mutations in Runx1t1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Runx1t1 APN 4 13,835,663 (GRCm39) missense probably benign 0.07
IGL01600:Runx1t1 APN 4 13,841,871 (GRCm39) missense probably damaging 1.00
IGL02172:Runx1t1 APN 4 13,859,924 (GRCm39) missense probably benign 0.00
IGL02429:Runx1t1 APN 4 13,865,294 (GRCm39) splice site probably benign
IGL02730:Runx1t1 APN 4 13,860,019 (GRCm39) missense probably benign 0.01
IGL02870:Runx1t1 APN 4 13,889,867 (GRCm39) missense unknown
IGL02879:Runx1t1 APN 4 13,889,868 (GRCm39) missense unknown
IGL03369:Runx1t1 APN 4 13,881,107 (GRCm39) missense probably damaging 1.00
IGL03047:Runx1t1 UTSW 4 13,865,882 (GRCm39) missense probably damaging 1.00
R1832:Runx1t1 UTSW 4 13,835,628 (GRCm39) splice site probably benign
R1884:Runx1t1 UTSW 4 13,835,767 (GRCm39) missense probably benign 0.00
R2277:Runx1t1 UTSW 4 13,771,501 (GRCm39) missense probably benign 0.00
R4059:Runx1t1 UTSW 4 13,889,769 (GRCm39) missense probably benign 0.33
R4505:Runx1t1 UTSW 4 13,889,676 (GRCm39) missense probably damaging 1.00
R4585:Runx1t1 UTSW 4 13,889,864 (GRCm39) missense unknown
R4586:Runx1t1 UTSW 4 13,889,864 (GRCm39) missense unknown
R4758:Runx1t1 UTSW 4 13,865,907 (GRCm39) missense probably damaging 1.00
R4795:Runx1t1 UTSW 4 13,837,767 (GRCm39) missense probably damaging 0.99
R4796:Runx1t1 UTSW 4 13,837,767 (GRCm39) missense probably damaging 0.99
R4897:Runx1t1 UTSW 4 13,771,459 (GRCm39) start codon destroyed probably null 0.01
R4971:Runx1t1 UTSW 4 13,837,978 (GRCm39) missense probably damaging 1.00
R5009:Runx1t1 UTSW 4 13,865,231 (GRCm39) missense possibly damaging 0.80
R5091:Runx1t1 UTSW 4 13,846,830 (GRCm39) nonsense probably null
R5844:Runx1t1 UTSW 4 13,881,068 (GRCm39) missense probably damaging 1.00
R5968:Runx1t1 UTSW 4 13,841,890 (GRCm39) splice site probably null
R5993:Runx1t1 UTSW 4 13,875,490 (GRCm39) missense probably benign 0.00
R5993:Runx1t1 UTSW 4 13,841,863 (GRCm39) missense probably damaging 0.98
R6329:Runx1t1 UTSW 4 13,785,136 (GRCm39) start codon destroyed probably null 0.38
R6915:Runx1t1 UTSW 4 13,865,257 (GRCm39) missense probably damaging 0.99
R7283:Runx1t1 UTSW 4 13,846,935 (GRCm39) missense probably damaging 1.00
R8251:Runx1t1 UTSW 4 13,846,947 (GRCm39) missense possibly damaging 0.46
R9301:Runx1t1 UTSW 4 13,875,477 (GRCm39) missense possibly damaging 0.78
R9376:Runx1t1 UTSW 4 13,865,225 (GRCm39) missense possibly damaging 0.93
R9390:Runx1t1 UTSW 4 13,865,932 (GRCm39) missense probably benign 0.14
Z1088:Runx1t1 UTSW 4 13,865,892 (GRCm39) missense possibly damaging 0.52
Posted On 2015-04-16