Incidental Mutation 'IGL00780:Dach1'
ID10054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dach1
Ensembl Gene ENSMUSG00000055639
Gene Namedachshund family transcription factor 1
SynonymsDac, E130112M23Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00780
Quality Score
Status
Chromosome14
Chromosomal Location97786853-98169765 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 97901422 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 528 (N528K)
Ref Sequence ENSEMBL: ENSMUSP00000071464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069334] [ENSMUST00000071533]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069334
AA Change: N476K

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064970
Gene: ENSMUSG00000055639
AA Change: N476K

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: N528K

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071464
Gene: ENSMUSG00000055639
AA Change: N528K

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
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A G 5: 9,422,367 T355A probably damaging Het
Abi3bp A G 16: 56,602,805 D440G probably null Het
Acvrl1 T A 15: 101,137,367 F258Y probably damaging Het
Ano1 A G 7: 144,655,630 S278P probably damaging Het
AW146154 T C 7: 41,480,459 Y411C probably damaging Het
Blnk T A 19: 40,934,446 K412M probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Dag1 A T 9: 108,209,619 W108R probably damaging Het
Fbn2 T C 18: 58,095,988 T717A probably damaging Het
Fnbp1l T C 3: 122,549,249 D394G possibly damaging Het
Gaa T A 11: 119,274,291 probably null Het
Gpr158 A T 2: 21,826,818 K910* probably null Het
Grb14 G A 2: 64,914,718 P99S probably damaging Het
Gtf2h2 T C 13: 100,479,221 D264G probably benign Het
Heatr3 A G 8: 88,170,940 I667V probably benign Het
Hsp90ab1 T C 17: 45,569,564 N407S probably damaging Het
Htr2a A T 14: 74,706,205 L408F possibly damaging Het
Itgb5 G A 16: 33,884,975 V212I probably damaging Het
Kmt2c G A 5: 25,311,051 T2598I probably benign Het
Lcorl T C 5: 45,747,295 N137S probably damaging Het
Lef1 T C 3: 131,193,130 F212L possibly damaging Het
Map2k5 T C 9: 63,281,077 probably benign Het
Med15 G A 16: 17,653,487 T642I probably damaging Het
Nasp C A 4: 116,603,999 E274* probably null Het
Nup210l A T 3: 90,190,849 probably benign Het
Pgghg T C 7: 140,945,351 probably null Het
Plpp1 A G 13: 112,851,506 I54M probably damaging Het
Poldip3 C T 15: 83,138,479 G35R probably damaging Het
Ppig A T 2: 69,732,924 E81D possibly damaging Het
Ptpn21 G T 12: 98,680,371 T999K probably damaging Het
Rad9b T C 5: 122,344,247 I142V probably benign Het
Ralgps1 A T 2: 33,273,627 H139Q probably damaging Het
Rdh16f2 T C 10: 127,875,092 probably null Het
Sema3d G A 5: 12,524,326 R265Q probably damaging Het
Svs1 A G 6: 48,987,739 D227G probably damaging Het
Tdp1 T C 12: 99,893,648 V198A possibly damaging Het
Trim43c A T 9: 88,841,856 D145V probably benign Het
Trpc4 C T 3: 54,302,175 P654S probably damaging Het
Yy1 T G 12: 108,815,537 I376S probably damaging Het
Zfp773 T A 7: 7,133,114 Q161L probably benign Het
Other mutations in Dach1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Dach1 APN 14 97840204 missense possibly damaging 0.83
IGL02033:Dach1 APN 14 97901429 missense possibly damaging 0.82
IGL02116:Dach1 APN 14 97901423 missense probably damaging 0.98
IGL02583:Dach1 APN 14 97828394 splice site probably benign
IGL02937:Dach1 APN 14 97915795 critical splice donor site probably null
IGL03120:Dach1 APN 14 97827789 missense probably damaging 1.00
R0016:Dach1 UTSW 14 98168748 missense probably damaging 1.00
R0017:Dach1 UTSW 14 98168748 missense probably damaging 1.00
R0117:Dach1 UTSW 14 98168748 missense probably damaging 1.00
R0334:Dach1 UTSW 14 98168748 missense probably damaging 1.00
R0336:Dach1 UTSW 14 98168748 missense probably damaging 1.00
R0371:Dach1 UTSW 14 97969903 missense probably damaging 0.99
R0511:Dach1 UTSW 14 97901329 missense possibly damaging 0.94
R0538:Dach1 UTSW 14 97903279 missense possibly damaging 0.80
R0799:Dach1 UTSW 14 98168615 missense possibly damaging 0.79
R0928:Dach1 UTSW 14 97915832 missense probably damaging 0.98
R0939:Dach1 UTSW 14 97915924 missense probably damaging 0.99
R1512:Dach1 UTSW 14 97901399 missense probably damaging 0.99
R1646:Dach1 UTSW 14 98169114 missense unknown
R1865:Dach1 UTSW 14 97840209 missense possibly damaging 0.68
R1881:Dach1 UTSW 14 97901396 missense probably benign 0.20
R1909:Dach1 UTSW 14 97901393 missense probably damaging 1.00
R1980:Dach1 UTSW 14 97831341 missense probably damaging 1.00
R2215:Dach1 UTSW 14 98168481 critical splice donor site probably null
R2570:Dach1 UTSW 14 97901411 missense probably benign 0.17
R3924:Dach1 UTSW 14 97915903 missense probably damaging 1.00
R3957:Dach1 UTSW 14 97840109 missense probably damaging 0.99
R4095:Dach1 UTSW 14 97901379 missense possibly damaging 0.92
R4373:Dach1 UTSW 14 97827750 missense possibly damaging 0.94
R5350:Dach1 UTSW 14 97969959 missense probably damaging 1.00
R5428:Dach1 UTSW 14 98169269 missense unknown
R5818:Dach1 UTSW 14 98168684 missense probably damaging 1.00
R6824:Dach1 UTSW 14 98018892 missense possibly damaging 0.81
R6967:Dach1 UTSW 14 97903197 missense probably damaging 1.00
Posted On2012-12-06