Incidental Mutation 'R4373:Dach1'
ID 326076
Institutional Source Beutler Lab
Gene Symbol Dach1
Ensembl Gene ENSMUSG00000055639
Gene Name dachshund family transcription factor 1
Synonyms Dac, E130112M23Rik
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 98024289-98407201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98065186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 685 (T685I)
Ref Sequence ENSEMBL: ENSMUSP00000064970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069334] [ENSMUST00000071533]
AlphaFold Q9QYB2
Predicted Effect possibly damaging
Transcript: ENSMUST00000069334
AA Change: T685I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064970
Gene: ENSMUSG00000055639
AA Change: T685I

DomainStartEndE-ValueType
low complexity region 7 53 N/A INTRINSIC
low complexity region 61 97 N/A INTRINSIC
low complexity region 102 156 N/A INTRINSIC
Pfam:Ski_Sno 159 275 4.8e-53 PFAM
low complexity region 318 334 N/A INTRINSIC
low complexity region 443 470 N/A INTRINSIC
SCOP:d1eq1a_ 556 674 1e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000071533
AA Change: T737I

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071464
Gene: ENSMUSG00000055639
AA Change: T737I

DomainStartEndE-ValueType
low complexity region 7 53 N/A INTRINSIC
low complexity region 61 97 N/A INTRINSIC
low complexity region 102 156 N/A INTRINSIC
Pfam:Ski_Sno 164 274 6.5e-42 PFAM
low complexity region 318 334 N/A INTRINSIC
low complexity region 495 522 N/A INTRINSIC
SCOP:d1eq1a_ 608 726 6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156684
Meta Mutation Damage Score 0.1615 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: In spite of normal gross morphology, mice homozygous for targeted mutations that inactivate this gene die within 1 day of birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
BC034090 T C 1: 155,101,904 (GRCm39) N120S probably benign Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dclre1a A G 19: 56,533,874 (GRCm39) L240S probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gde1 A G 7: 118,297,781 (GRCm39) L35P possibly damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Lrtm2 A G 6: 119,297,489 (GRCm39) F184S probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nfib A G 4: 82,241,895 (GRCm39) V432A probably damaging Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Opa3 C T 7: 18,978,699 (GRCm39) R55W probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Stat4 T C 1: 52,111,100 (GRCm39) probably null Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Tsku T C 7: 98,002,038 (GRCm39) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably damaging Het
Other mutations in Dach1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Dach1 APN 14 98,138,858 (GRCm39) missense possibly damaging 0.83
IGL01101:Dach1 APN 14 98,077,640 (GRCm39) missense possibly damaging 0.83
IGL02033:Dach1 APN 14 98,138,865 (GRCm39) missense possibly damaging 0.82
IGL02116:Dach1 APN 14 98,138,859 (GRCm39) missense probably damaging 0.98
IGL02583:Dach1 APN 14 98,065,830 (GRCm39) splice site probably benign
IGL02937:Dach1 APN 14 98,153,231 (GRCm39) critical splice donor site probably null
IGL03120:Dach1 APN 14 98,065,225 (GRCm39) missense probably damaging 1.00
R0016:Dach1 UTSW 14 98,406,184 (GRCm39) missense probably damaging 1.00
R0017:Dach1 UTSW 14 98,406,184 (GRCm39) missense probably damaging 1.00
R0117:Dach1 UTSW 14 98,406,184 (GRCm39) missense probably damaging 1.00
R0334:Dach1 UTSW 14 98,406,184 (GRCm39) missense probably damaging 1.00
R0336:Dach1 UTSW 14 98,406,184 (GRCm39) missense probably damaging 1.00
R0371:Dach1 UTSW 14 98,207,339 (GRCm39) missense probably damaging 0.99
R0511:Dach1 UTSW 14 98,138,765 (GRCm39) missense possibly damaging 0.94
R0538:Dach1 UTSW 14 98,140,715 (GRCm39) missense possibly damaging 0.80
R0799:Dach1 UTSW 14 98,406,051 (GRCm39) missense possibly damaging 0.79
R0928:Dach1 UTSW 14 98,153,268 (GRCm39) missense probably damaging 0.98
R0939:Dach1 UTSW 14 98,153,360 (GRCm39) missense probably damaging 0.99
R1512:Dach1 UTSW 14 98,138,835 (GRCm39) missense probably damaging 0.99
R1646:Dach1 UTSW 14 98,406,550 (GRCm39) missense unknown
R1865:Dach1 UTSW 14 98,077,645 (GRCm39) missense possibly damaging 0.68
R1881:Dach1 UTSW 14 98,138,832 (GRCm39) missense probably benign 0.20
R1909:Dach1 UTSW 14 98,138,829 (GRCm39) missense probably damaging 1.00
R1980:Dach1 UTSW 14 98,068,777 (GRCm39) missense probably damaging 1.00
R2215:Dach1 UTSW 14 98,405,917 (GRCm39) critical splice donor site probably null
R2570:Dach1 UTSW 14 98,138,847 (GRCm39) missense probably benign 0.17
R3924:Dach1 UTSW 14 98,153,339 (GRCm39) missense probably damaging 1.00
R3957:Dach1 UTSW 14 98,077,545 (GRCm39) missense probably damaging 0.99
R4095:Dach1 UTSW 14 98,138,815 (GRCm39) missense possibly damaging 0.92
R5350:Dach1 UTSW 14 98,207,395 (GRCm39) missense probably damaging 1.00
R5428:Dach1 UTSW 14 98,406,705 (GRCm39) missense unknown
R5818:Dach1 UTSW 14 98,406,120 (GRCm39) missense probably damaging 1.00
R6824:Dach1 UTSW 14 98,256,328 (GRCm39) missense possibly damaging 0.81
R6967:Dach1 UTSW 14 98,140,633 (GRCm39) missense probably damaging 1.00
R7263:Dach1 UTSW 14 98,406,295 (GRCm39) missense probably benign
R7701:Dach1 UTSW 14 98,140,670 (GRCm39) missense probably damaging 0.99
R8176:Dach1 UTSW 14 98,153,916 (GRCm39) missense probably benign 0.02
R8196:Dach1 UTSW 14 98,256,370 (GRCm39) missense probably damaging 0.98
R8419:Dach1 UTSW 14 98,406,076 (GRCm39) missense probably damaging 1.00
R8434:Dach1 UTSW 14 98,406,129 (GRCm39) missense probably damaging 1.00
R8510:Dach1 UTSW 14 98,140,595 (GRCm39) missense probably damaging 1.00
R8748:Dach1 UTSW 14 98,065,770 (GRCm39) nonsense probably null
R8909:Dach1 UTSW 14 98,406,120 (GRCm39) missense probably damaging 1.00
R9087:Dach1 UTSW 14 98,406,267 (GRCm39) missense probably benign 0.01
R9200:Dach1 UTSW 14 98,065,743 (GRCm39) missense probably damaging 1.00
Z1192:Dach1 UTSW 14 98,140,587 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- CTGCCAGAATTAGATTGTGCTTC -3'
(R):5'- GAGGAGACTTACGTGGTTTTAATTC -3'

Sequencing Primer
(F):5'- CCAGAATTAGATTGTGCTTCGAACAC -3'
(R):5'- CTGTATCAAGTGAACAGGTAGCTC -3'
Posted On 2015-07-06