Incidental Mutation 'IGL02429:Runx1t1'
ID 293074
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 # IGL02429
Quality Score
Status
Chromosome 4
Chromosomal Location 13743436-13893649 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 13865294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586

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
SMART Domains Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586

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
SMART Domains Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586

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
SMART Domains Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,687,453 (GRCm39) D245V probably damaging Het
Adamts16 G A 13: 70,935,289 (GRCm39) probably benign Het
Arhgap36 A G X: 48,583,583 (GRCm39) D77G possibly damaging Het
Asap1 A T 15: 64,039,589 (GRCm39) M187K probably damaging Het
Aspm T C 1: 139,407,548 (GRCm39) V2145A probably benign Het
Ccn6 T C 10: 39,030,989 (GRCm39) N178S probably benign Het
Cd46 T C 1: 194,767,732 (GRCm39) T110A probably benign Het
Chl1 T A 6: 103,641,770 (GRCm39) probably benign Het
Clca3b A G 3: 144,533,896 (GRCm39) L493S probably damaging Het
Col11a2 C T 17: 34,261,266 (GRCm39) T72M probably damaging Het
Cyfip1 T A 7: 55,521,730 (GRCm39) probably benign Het
Frmd4b T C 6: 97,302,390 (GRCm39) probably benign Het
Glyr1 A G 16: 4,837,240 (GRCm39) M397T probably benign Het
Golm2 A G 2: 121,742,468 (GRCm39) T306A probably benign Het
Gtf2a1l G T 17: 88,976,141 (GRCm39) M1I probably null Het
Hdac4 A G 1: 91,940,417 (GRCm39) L154P probably benign Het
Ints8 A T 4: 11,231,720 (GRCm39) C422S probably damaging Het
Kng2 T A 16: 22,830,829 (GRCm39) K160I probably damaging Het
Lrrc23 C A 6: 124,755,130 (GRCm39) A136S probably damaging Het
Ltf T C 9: 110,855,193 (GRCm39) I402T possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mfsd4a T C 1: 131,956,237 (GRCm39) H509R probably benign Het
Mthfd1l A G 10: 4,039,334 (GRCm39) K782E probably damaging Het
Mvb12b G A 2: 33,717,800 (GRCm39) R114W probably damaging Het
Myh4 A T 11: 67,149,808 (GRCm39) K1818* probably null Het
Myo1h C T 5: 114,497,799 (GRCm39) probably benign Het
Ncapd3 T A 9: 27,000,598 (GRCm39) S1402T probably benign Het
Nutm2 A G 13: 50,623,516 (GRCm39) N71S probably benign Het
Oas1c C A 5: 120,940,133 (GRCm39) M344I probably benign Het
Or10g7 T A 9: 39,905,138 (GRCm39) F11I probably benign Het
Phldb1 A G 9: 44,612,247 (GRCm39) L1019P probably damaging Het
Plxnc1 T C 10: 94,718,453 (GRCm39) E494G probably benign Het
Pole T C 5: 110,447,666 (GRCm39) I734T probably benign Het
Ppp1r3b T C 8: 35,851,769 (GRCm39) S203P probably benign Het
Pth2r G T 1: 65,385,998 (GRCm39) M240I probably benign Het
Ptprr T A 10: 116,109,672 (GRCm39) F394I probably damaging Het
Rabgef1 T C 5: 130,239,329 (GRCm39) S265P possibly damaging Het
Rbpjl A G 2: 164,255,815 (GRCm39) D353G possibly damaging Het
Rfc3 A G 5: 151,574,596 (GRCm39) Y8H probably benign Het
Rph3a A T 5: 121,118,187 (GRCm39) probably null Het
Slc37a1 T A 17: 31,519,483 (GRCm39) probably null Het
Slc38a10 T C 11: 120,025,714 (GRCm39) probably benign Het
Slc38a6 T C 12: 73,397,342 (GRCm39) V328A probably benign Het
Slf2 T C 19: 44,930,167 (GRCm39) S415P probably benign Het
Spata17 C A 1: 186,872,631 (GRCm39) R60L possibly damaging Het
Svil T A 18: 5,118,369 (GRCm39) D2237E probably benign Het
Swap70 T A 7: 109,863,179 (GRCm39) N169K probably benign Het
Tnfrsf11a A G 1: 105,755,443 (GRCm39) D505G probably benign Het
Traf1 A G 2: 34,839,115 (GRCm39) V70A probably benign Het
Traf3 T A 12: 111,209,899 (GRCm39) V165E probably benign Het
Trpc5 T C X: 143,194,795 (GRCm39) E570G probably damaging Het
Ubash3a A G 17: 31,460,279 (GRCm39) N601S probably benign Het
Vmn2r30 C T 7: 7,337,243 (GRCm39) C131Y possibly damaging Het
Vmn2r43 T C 7: 8,258,551 (GRCm39) I221V probably benign Het
Vmn2r97 T A 17: 19,150,596 (GRCm39) V481E possibly damaging 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
IGL02120:Runx1t1 APN 4 13,846,884 (GRCm39) missense probably benign
IGL02172:Runx1t1 APN 4 13,859,924 (GRCm39) missense probably benign 0.00
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