Incidental Mutation 'R4586:Runx1t1'
ID 344087
Institutional Source Beutler Lab
Gene Symbol Runx1t1
Ensembl Gene ENSMUSG00000006586
Gene Name RUNX1 translocation partner 1
Synonyms ETO, Cbfa2t1h, MTG8
MMRRC Submission 041807-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.837) question?
Stock # R4586 (G1)
Quality Score 195
Status Validated
Chromosome 4
Chromosomal Location 13743436-13893649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13889864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 598 (T598S)
Ref Sequence ENSEMBL: ENSMUSP00000127109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006761] [ENSMUST00000098256] [ENSMUST00000098257] [ENSMUST00000105566]
AlphaFold Q61909
Predicted Effect unknown
Transcript: ENSMUST00000006761
AA Change: T578S
SMART Domains Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586
AA Change: T578S

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 unknown
Transcript: ENSMUST00000098256
AA Change: T571S
SMART Domains Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586
AA Change: T571S

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 unknown
Transcript: ENSMUST00000098257
AA Change: T598S
SMART Domains Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586
AA Change: T598S

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 unknown
Transcript: ENSMUST00000105566
AA Change: T598S
SMART Domains Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586
AA Change: T598S

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: ENSMUST00000139736
Meta Mutation Damage Score 0.0700 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (96/96)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,026,151 (GRCm39) S1269P probably benign Het
Aqr T C 2: 113,943,058 (GRCm39) T1172A probably benign Het
Art2a A T 7: 101,203,956 (GRCm39) L194* probably null Het
Atrn T C 2: 130,823,962 (GRCm39) F967S probably damaging Het
Btnl1 A G 17: 34,601,436 (GRCm39) D323G probably damaging Het
Cadps C A 14: 12,505,808 (GRCm38) C754F probably damaging Het
Catspere2 A G 1: 177,950,351 (GRCm39) D734G possibly damaging Het
Ccdc7b A G 8: 129,837,401 (GRCm39) T131A probably benign Het
Cfap298 A T 16: 90,724,314 (GRCm39) V136D probably damaging Het
Cic A T 7: 24,972,203 (GRCm39) I645L probably benign Het
Clca3a1 C A 3: 144,722,619 (GRCm39) C251F probably damaging Het
Cldn16 A T 16: 26,296,308 (GRCm39) T95S probably benign Het
Cntnap4 C T 8: 113,537,342 (GRCm39) H738Y probably benign Het
Col8a2 A T 4: 126,204,812 (GRCm39) probably benign Het
Corin A T 5: 72,487,042 (GRCm39) V706D probably damaging Het
Cuzd1 G A 7: 130,916,529 (GRCm39) P310L probably damaging Het
Cyp4a12a T C 4: 115,184,509 (GRCm39) F295L probably benign Het
Cyp4a12b T G 4: 115,289,703 (GRCm39) M190R probably damaging Het
Dagla A G 19: 10,248,373 (GRCm39) Y96H probably damaging Het
Dapp1 T C 3: 137,644,932 (GRCm39) Q148R probably benign Het
Dcaf17 T A 2: 70,918,924 (GRCm39) S499R probably benign Het
Ddx27 T A 2: 166,861,904 (GRCm39) D135E probably benign Het
Defb3 A T 8: 19,345,172 (GRCm39) I43F possibly damaging Het
Dnajc10 T G 2: 80,178,122 (GRCm39) F710V probably damaging Het
Dnhd1 T C 7: 105,327,256 (GRCm39) L735P probably damaging Het
Dnmt1 G A 9: 20,837,989 (GRCm39) P242S probably benign Het
Dync1h1 G A 12: 110,615,917 (GRCm39) D3022N probably benign Het
Ep400 G A 5: 110,901,725 (GRCm39) T464I probably damaging Het
Epc1 T C 18: 6,449,138 (GRCm39) N453S possibly damaging Het
Eral1 A T 11: 77,969,130 (GRCm39) N123K probably damaging Het
Ercc5 G A 1: 44,198,017 (GRCm39) V145I probably benign Het
Evc A G 5: 37,481,057 (GRCm39) S263P probably damaging Het
Fancc A T 13: 63,495,378 (GRCm39) M182K probably benign Het
Fbxl3 G T 14: 103,320,526 (GRCm39) A355E probably damaging Het
Fig4 A C 10: 41,064,628 (GRCm39) S872A probably damaging Het
Gm14393 C A 2: 174,904,497 (GRCm39) probably benign Het
Gm27013 A T 6: 130,498,003 (GRCm39) noncoding transcript Het
Gprc5a T A 6: 135,060,450 (GRCm39) M313K probably benign Het
H2ac15 T C 13: 21,937,882 (GRCm39) N39S possibly damaging Het
H2-T3 T C 17: 36,500,236 (GRCm39) probably null Het
Hap1 G A 11: 100,245,550 (GRCm39) T138M probably benign Het
Hook3 T G 8: 26,522,039 (GRCm39) K679T probably damaging Het
Ints2 G T 11: 86,140,101 (GRCm39) R244S probably damaging Het
Itgb4 T C 11: 115,884,151 (GRCm39) V945A probably damaging Het
Itih2 C T 2: 10,115,211 (GRCm39) S387N probably benign Het
Jmjd7 T A 2: 119,862,649 (GRCm39) M306K probably benign Het
Klra2 T A 6: 131,207,120 (GRCm39) D163V probably benign Het
Kmo T A 1: 175,478,138 (GRCm39) M208K probably damaging Het
Kmo G T 1: 175,478,139 (GRCm39) M208I possibly damaging Het
Masp2 A G 4: 148,698,358 (GRCm39) T480A probably damaging Het
Mogs G T 6: 83,095,619 (GRCm39) R812L possibly damaging Het
Mrpl43 A G 19: 44,994,328 (GRCm39) I97T possibly damaging Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Ncam2 T A 16: 81,262,457 (GRCm39) H303Q probably benign Het
Ntaq1 A T 15: 58,011,740 (GRCm39) I34F probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Obox1 A T 7: 15,290,152 (GRCm39) N165I possibly damaging Het
Or1j1 C T 2: 36,702,537 (GRCm39) C189Y probably damaging Het
Or4b1d T A 2: 89,968,558 (GRCm39) E308D probably benign Het
Or4c113 T G 2: 88,885,498 (GRCm39) I91L possibly damaging Het
Or6c35 A G 10: 129,169,142 (GRCm39) T131A probably benign Het
Pex1 A G 5: 3,683,885 (GRCm39) Y1127C probably damaging Het
Pno1 T C 11: 17,161,438 (GRCm39) K24E probably benign Het
Qdpr T A 5: 45,596,669 (GRCm39) N165I possibly damaging Het
Robo2 A G 16: 73,758,761 (GRCm39) V674A probably damaging Het
Samd11 A G 4: 156,333,889 (GRCm39) L174P probably damaging Het
Scn2a T A 2: 65,573,395 (GRCm39) probably null Het
Slc4a1 G T 11: 102,252,245 (GRCm39) probably benign Het
Snx25 A T 8: 46,569,474 (GRCm39) probably benign Het
Sox2 A G 3: 34,705,193 (GRCm39) N210S probably benign Het
Spag6 T C 2: 18,736,958 (GRCm39) probably null Het
Speer4b A T 5: 27,703,036 (GRCm39) L154Q probably null Het
Stt3a T A 9: 36,653,089 (GRCm39) Q531L probably damaging Het
Tcl1 A C 12: 105,183,767 (GRCm39) probably benign Het
Trip11 A T 12: 101,849,600 (GRCm39) M1488K possibly damaging Het
Ttn T C 2: 76,798,747 (GRCm39) H509R probably benign Het
Ulk3 C T 9: 57,501,593 (GRCm39) L425F possibly damaging Het
Vmn1r238 T A 18: 3,123,294 (GRCm39) K40M probably damaging Het
Vopp1 G A 6: 57,731,533 (GRCm39) P153S probably damaging Het
Zbtb42 C T 12: 112,646,976 (GRCm39) R384W probably damaging Het
Zfp14 G T 7: 29,738,341 (GRCm39) Q215K probably damaging Het
Zfp473 A T 7: 44,382,376 (GRCm39) Y651* probably null Het
Zfp735 G T 11: 73,580,550 (GRCm39) E16D possibly damaging Het
Zfp846 G T 9: 20,504,809 (GRCm39) C223F probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCCAGCATAAAGACTGGG -3'
(R):5'- CATTACGACCCGTTACTGGC -3'

Sequencing Primer
(F):5'- GGAGAAGCATCACCACATCTGTG -3'
(R):5'- CGCCTCAAAGATACAGTTAGGTTCTC -3'
Posted On 2015-09-24