Incidental Mutation 'R4674:Dido1'
ID 348677
Institutional Source Beutler Lab
Gene Symbol Dido1
Ensembl Gene ENSMUSG00000038914
Gene Name death inducer-obliterator 1
Synonyms D130048F08Rik, Datf1, 6720461J16Rik, dido, DIO-1, C130092D22Rik
MMRRC Submission 041929-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R4674 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 180299757-180351792 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180329352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 357 (S357P)
Ref Sequence ENSEMBL: ENSMUSP00000119689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087517] [ENSMUST00000103055] [ENSMUST00000103056] [ENSMUST00000103057] [ENSMUST00000130986]
AlphaFold Q8C9B9
Predicted Effect probably damaging
Transcript: ENSMUST00000087517
AA Change: S357P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: S357P

DomainStartEndE-ValueType
low complexity region 134 155 N/A INTRINSIC
PHD 267 317 1.19e-11 SMART
low complexity region 430 446 N/A INTRINSIC
TFS2M 669 770 1.16e-45 SMART
low complexity region 937 962 N/A INTRINSIC
low complexity region 1023 1037 N/A INTRINSIC
Pfam:SPOC 1052 1158 1e-22 PFAM
low complexity region 1253 1267 N/A INTRINSIC
low complexity region 1279 1308 N/A INTRINSIC
low complexity region 1372 1391 N/A INTRINSIC
coiled coil region 1458 1502 N/A INTRINSIC
low complexity region 1649 1680 N/A INTRINSIC
low complexity region 1748 1766 N/A INTRINSIC
low complexity region 1780 1792 N/A INTRINSIC
low complexity region 1804 1815 N/A INTRINSIC
internal_repeat_2 1816 1852 3.9e-5 PROSPERO
internal_repeat_1 1819 1859 6.92e-7 PROSPERO
internal_repeat_2 1926 1964 3.9e-5 PROSPERO
internal_repeat_1 1940 1982 6.92e-7 PROSPERO
low complexity region 2025 2045 N/A INTRINSIC
low complexity region 2123 2160 N/A INTRINSIC
low complexity region 2163 2177 N/A INTRINSIC
low complexity region 2182 2239 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103054
Predicted Effect probably damaging
Transcript: ENSMUST00000103055
AA Change: S357P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099344
Gene: ENSMUSG00000038914
AA Change: S357P

DomainStartEndE-ValueType
low complexity region 134 155 N/A INTRINSIC
PHD 267 317 1.19e-11 SMART
low complexity region 430 446 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103056
AA Change: S357P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099345
Gene: ENSMUSG00000038914
AA Change: S357P

DomainStartEndE-ValueType
low complexity region 134 155 N/A INTRINSIC
PHD 267 317 1.19e-11 SMART
low complexity region 430 446 N/A INTRINSIC
TFS2M 669 770 1.16e-45 SMART
low complexity region 937 962 N/A INTRINSIC
low complexity region 1023 1037 N/A INTRINSIC
Pfam:SPOC 1052 1158 4.7e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103057
AA Change: S357P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914
AA Change: S357P

DomainStartEndE-ValueType
low complexity region 134 155 N/A INTRINSIC
PHD 267 317 1.19e-11 SMART
low complexity region 430 446 N/A INTRINSIC
TFS2M 669 770 1.16e-45 SMART
low complexity region 937 962 N/A INTRINSIC
low complexity region 1023 1037 N/A INTRINSIC
Pfam:SPOC 1052 1158 4.7e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130986
AA Change: S357P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119689
Gene: ENSMUSG00000038914
AA Change: S357P

DomainStartEndE-ValueType
low complexity region 134 155 N/A INTRINSIC
PHD 267 317 1.19e-11 SMART
low complexity region 430 446 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transcription factor involved in apoptosis. The encoded protein functions in cell cycle progression and plays a role in chromosomal stability. This protein regulates the self-renewal of embryonic stem cells. Disruption of this gene in mice causes symptoms similar to myelodysplastic/myeloproliferative diseases in humans. Mice lacking this gene show severely reduced fertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severely reduced fertility; about one-half develop a transplantable disease characterized by anomalies in spleen, bone marrow, and peripheral blood and including anemia and various symptoms typical of myeloid dysplasia or myeloid proliferation. [provided by MGI curators]
Allele List at MGI

All alleles(245) : Targeted, knock-out(1) Gene trapped(244)

Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,860,615 (GRCm39) I112T probably benign Het
Acvr1b T C 15: 101,100,939 (GRCm39) I367T possibly damaging Het
Akr1b8 G A 6: 34,333,359 (GRCm39) probably null Het
Ash1l T C 3: 88,979,783 (GRCm39) V2769A possibly damaging Het
Asxl3 A T 18: 22,650,795 (GRCm39) D928V probably damaging Het
Atp1a4 A T 1: 172,085,223 (GRCm39) V66E possibly damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Cbx2 T A 11: 118,919,935 (GRCm39) I500N probably damaging Het
Ccdc82 A T 9: 13,252,260 (GRCm39) H184L probably benign Het
Cd84 A T 1: 171,700,887 (GRCm39) H216L possibly damaging Het
Ceacam15 T C 7: 16,407,410 (GRCm39) T36A probably benign Het
Cebpd A G 16: 15,705,385 (GRCm39) D66G probably damaging Het
Clec1b C A 6: 129,377,097 (GRCm39) L47I probably damaging Het
Cracr2b A G 7: 141,043,451 (GRCm39) D43G probably damaging Het
Crbn T A 6: 106,767,932 (GRCm39) Q173L possibly damaging Het
Cspg4 T C 9: 56,805,489 (GRCm39) V2100A probably damaging Het
Cyp46a1 T C 12: 108,324,345 (GRCm39) L374P probably damaging Het
Dhx16 T A 17: 36,196,831 (GRCm39) V607E probably damaging Het
Dnah6 T A 6: 73,169,405 (GRCm39) I399F probably benign Het
Dock10 T C 1: 80,584,337 (GRCm39) E123G possibly damaging Het
Dstyk A G 1: 132,391,128 (GRCm39) D843G probably benign Het
Efcab12 C A 6: 115,800,610 (GRCm39) V138F probably damaging Het
Egf A G 3: 129,511,689 (GRCm39) F493L probably damaging Het
Ephx1 A G 1: 180,822,256 (GRCm39) F220S probably damaging Het
Exoc6 T C 19: 37,597,530 (GRCm39) F644L probably damaging Het
F13b A G 1: 139,429,542 (GRCm39) Y20C unknown Het
Fam184b T A 5: 45,740,230 (GRCm39) K319* probably null Het
Flrt2 T A 12: 95,747,462 (GRCm39) L600* probably null Het
Gbgt1 T C 2: 28,388,453 (GRCm39) F46S possibly damaging Het
Gli2 T C 1: 118,763,759 (GRCm39) E1464G probably damaging Het
Hdac9 A G 12: 34,423,959 (GRCm39) V501A possibly damaging Het
Heca T C 10: 17,791,057 (GRCm39) H333R probably benign Het
Hirip3 G A 7: 126,463,834 (GRCm39) probably null Het
Igsf8 G A 1: 172,146,479 (GRCm39) W51* probably null Het
Kif21a C A 15: 90,824,748 (GRCm39) R1342L possibly damaging Het
Krt73 T C 15: 101,710,510 (GRCm39) N75D probably benign Het
Macf1 T A 4: 123,366,190 (GRCm39) Y1292F probably benign Het
Macroh2a1 A C 13: 56,230,997 (GRCm39) C297G possibly damaging Het
Mapk14 A G 17: 28,963,996 (GRCm39) probably null Het
Mgat5 T A 1: 127,318,495 (GRCm39) V330D probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 A T 13: 100,580,682 (GRCm39) F188L probably damaging Het
Ncoa3 T C 2: 165,901,731 (GRCm39) S1035P probably benign Het
Ndn T A 7: 61,998,570 (GRCm39) W139R probably damaging Het
Nes T C 3: 87,879,102 (GRCm39) V198A possibly damaging Het
Or4c107 G T 2: 88,789,216 (GRCm39) M135I probably damaging Het
Or4c35 A G 2: 89,808,250 (GRCm39) I43V possibly damaging Het
Or51ab3 T G 7: 103,201,183 (GRCm39) L64V probably damaging Het
Or52p1 T A 7: 104,267,631 (GRCm39) C248* probably null Het
Or5b111 T A 19: 13,291,178 (GRCm39) H157L probably benign Het
Or5p72 T C 7: 108,022,309 (GRCm39) V177A possibly damaging Het
Pcf11 G A 7: 92,308,985 (GRCm39) probably benign Het
Pde1a TCC TC 2: 79,728,525 (GRCm39) probably benign Het
Pipox T G 11: 77,784,596 (GRCm39) Q4P probably benign Het
Pla2g4c C T 7: 13,077,439 (GRCm39) T327I probably null Het
Plppr1 C T 4: 49,323,384 (GRCm39) R225W probably damaging Het
Pnpla6 T A 8: 3,571,412 (GRCm39) V145D probably damaging Het
Pnpla7 T C 2: 24,942,329 (GRCm39) Y83H probably damaging Het
Rif1 T A 2: 51,996,954 (GRCm39) L970Q probably null Het
Rimklb C A 6: 122,433,242 (GRCm39) E303* probably null Het
Rpl13a A T 7: 44,776,242 (GRCm39) probably benign Het
Rttn T A 18: 89,029,135 (GRCm39) probably null Het
Sf3b3 G A 8: 111,571,137 (GRCm39) R10W probably damaging Het
Skint4 G A 4: 111,975,430 (GRCm39) C130Y probably damaging Het
Snap91 A G 9: 86,674,070 (GRCm39) S593P possibly damaging Het
Ssb A G 2: 69,699,194 (GRCm39) Q209R probably benign Het
Stap1 A T 5: 86,229,044 (GRCm39) I71L probably benign Het
Syna C A 5: 134,587,209 (GRCm39) R580L probably damaging Het
Tacc2 T A 7: 130,226,591 (GRCm39) M1111K possibly damaging Het
Tanc2 T C 11: 105,758,306 (GRCm39) L689P probably damaging Het
Tasor2 T C 13: 3,623,686 (GRCm39) E1406G possibly damaging Het
Tcstv7b T C 13: 120,702,362 (GRCm39) W53R probably damaging Het
Tdrd5 A C 1: 156,105,005 (GRCm39) C463W probably damaging Het
Tet1 A G 10: 62,674,627 (GRCm39) F1150L probably damaging Het
Tia1 T A 6: 86,397,382 (GRCm39) F118L probably damaging Het
Trav3-1 A T 14: 52,818,460 (GRCm39) T45S possibly damaging Het
Uaca A T 9: 60,761,711 (GRCm39) Y235F possibly damaging Het
Ube4b T C 4: 149,415,827 (GRCm39) N44S possibly damaging Het
Vmn2r93 T A 17: 18,525,255 (GRCm39) H304Q probably benign Het
Wdr18 A G 10: 79,801,069 (GRCm39) I161V probably benign Het
Zfp112 A G 7: 23,826,399 (GRCm39) H789R probably damaging Het
Zfp873 A G 10: 81,895,814 (GRCm39) T182A possibly damaging Het
Zscan2 T A 7: 80,525,150 (GRCm39) S290R probably damaging Het
Zup1 A T 10: 33,824,980 (GRCm39) D167E possibly damaging Het
Other mutations in Dido1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Dido1 APN 2 180,325,782 (GRCm39) missense probably benign
IGL00834:Dido1 APN 2 180,331,319 (GRCm39) missense possibly damaging 0.87
IGL01317:Dido1 APN 2 180,313,550 (GRCm39) missense probably benign 0.17
IGL01588:Dido1 APN 2 180,330,668 (GRCm39) missense probably benign 0.00
IGL01834:Dido1 APN 2 180,325,824 (GRCm39) splice site probably benign
IGL02102:Dido1 APN 2 180,304,040 (GRCm39) missense possibly damaging 0.58
IGL02556:Dido1 APN 2 180,331,128 (GRCm39) missense possibly damaging 0.69
IGL02756:Dido1 APN 2 180,303,716 (GRCm39) missense probably benign 0.00
IGL02826:Dido1 APN 2 180,325,751 (GRCm39) missense probably benign
IGL02970:Dido1 APN 2 180,331,208 (GRCm39) missense probably damaging 0.99
IGL03110:Dido1 APN 2 180,331,135 (GRCm39) missense probably damaging 1.00
IGL03116:Dido1 APN 2 180,312,772 (GRCm39) missense probably damaging 1.00
3370:Dido1 UTSW 2 180,313,335 (GRCm39) missense probably benign
A4554:Dido1 UTSW 2 180,317,164 (GRCm39) missense probably damaging 1.00
H8441:Dido1 UTSW 2 180,330,807 (GRCm39) missense probably benign 0.12
R0044:Dido1 UTSW 2 180,303,612 (GRCm39) missense probably damaging 1.00
R0044:Dido1 UTSW 2 180,303,612 (GRCm39) missense probably damaging 1.00
R0054:Dido1 UTSW 2 180,303,267 (GRCm39) missense probably benign 0.00
R0054:Dido1 UTSW 2 180,303,267 (GRCm39) missense probably benign 0.00
R0127:Dido1 UTSW 2 180,313,617 (GRCm39) missense probably benign 0.01
R0620:Dido1 UTSW 2 180,301,644 (GRCm39) missense probably benign 0.26
R0734:Dido1 UTSW 2 180,301,835 (GRCm39) missense probably benign 0.01
R1390:Dido1 UTSW 2 180,326,917 (GRCm39) missense possibly damaging 0.70
R1445:Dido1 UTSW 2 180,313,263 (GRCm39) missense possibly damaging 0.62
R1466:Dido1 UTSW 2 180,304,121 (GRCm39) missense probably damaging 1.00
R1466:Dido1 UTSW 2 180,304,121 (GRCm39) missense probably damaging 1.00
R1472:Dido1 UTSW 2 180,302,513 (GRCm39) missense probably benign 0.02
R1538:Dido1 UTSW 2 180,326,763 (GRCm39) missense possibly damaging 0.49
R1584:Dido1 UTSW 2 180,304,121 (GRCm39) missense probably damaging 1.00
R2020:Dido1 UTSW 2 180,301,378 (GRCm39) missense unknown
R2025:Dido1 UTSW 2 180,330,974 (GRCm39) nonsense probably null
R2026:Dido1 UTSW 2 180,330,974 (GRCm39) nonsense probably null
R2027:Dido1 UTSW 2 180,330,974 (GRCm39) nonsense probably null
R2089:Dido1 UTSW 2 180,303,677 (GRCm39) missense probably benign 0.29
R2091:Dido1 UTSW 2 180,303,677 (GRCm39) missense probably benign 0.29
R2091:Dido1 UTSW 2 180,303,677 (GRCm39) missense probably benign 0.29
R2495:Dido1 UTSW 2 180,331,181 (GRCm39) missense probably benign 0.00
R2931:Dido1 UTSW 2 180,303,446 (GRCm39) missense probably damaging 1.00
R3418:Dido1 UTSW 2 180,302,728 (GRCm39) missense possibly damaging 0.84
R3735:Dido1 UTSW 2 180,325,829 (GRCm39) splice site probably benign
R4523:Dido1 UTSW 2 180,314,085 (GRCm39) missense probably damaging 1.00
R4729:Dido1 UTSW 2 180,329,443 (GRCm39) missense probably benign 0.00
R4762:Dido1 UTSW 2 180,331,368 (GRCm39) missense probably damaging 1.00
R4786:Dido1 UTSW 2 180,312,664 (GRCm39) missense possibly damaging 0.85
R4817:Dido1 UTSW 2 180,303,209 (GRCm39) missense probably benign 0.02
R4892:Dido1 UTSW 2 180,316,822 (GRCm39) nonsense probably null
R4979:Dido1 UTSW 2 180,302,606 (GRCm39) missense probably damaging 0.98
R5510:Dido1 UTSW 2 180,326,966 (GRCm39) missense probably benign 0.00
R5586:Dido1 UTSW 2 180,301,445 (GRCm39) nonsense probably null
R5672:Dido1 UTSW 2 180,313,696 (GRCm39) missense probably damaging 0.99
R5863:Dido1 UTSW 2 180,303,566 (GRCm39) missense probably benign 0.02
R5943:Dido1 UTSW 2 180,303,675 (GRCm39) missense probably benign 0.00
R5974:Dido1 UTSW 2 180,313,290 (GRCm39) missense probably benign 0.02
R6123:Dido1 UTSW 2 180,325,760 (GRCm39) missense probably benign 0.07
R6214:Dido1 UTSW 2 180,303,945 (GRCm39) missense probably damaging 1.00
R6215:Dido1 UTSW 2 180,303,945 (GRCm39) missense probably damaging 1.00
R6248:Dido1 UTSW 2 180,302,048 (GRCm39) missense probably damaging 1.00
R6285:Dido1 UTSW 2 180,302,940 (GRCm39) missense probably benign 0.00
R6349:Dido1 UTSW 2 180,302,494 (GRCm39) missense probably benign 0.03
R6437:Dido1 UTSW 2 180,316,806 (GRCm39) missense probably damaging 1.00
R6477:Dido1 UTSW 2 180,302,274 (GRCm39) missense probably benign 0.00
R6836:Dido1 UTSW 2 180,304,100 (GRCm39) missense probably benign 0.16
R7055:Dido1 UTSW 2 180,303,002 (GRCm39) missense probably benign 0.09
R7289:Dido1 UTSW 2 180,301,424 (GRCm39) missense unknown
R7304:Dido1 UTSW 2 180,329,286 (GRCm39) missense probably damaging 1.00
R7343:Dido1 UTSW 2 180,316,914 (GRCm39) missense possibly damaging 0.49
R7363:Dido1 UTSW 2 180,304,310 (GRCm39) nonsense probably null
R7429:Dido1 UTSW 2 180,331,319 (GRCm39) missense possibly damaging 0.87
R7594:Dido1 UTSW 2 180,316,905 (GRCm39) missense probably benign
R7629:Dido1 UTSW 2 180,303,266 (GRCm39) missense probably benign
R7899:Dido1 UTSW 2 180,313,390 (GRCm39) missense possibly damaging 0.82
R7946:Dido1 UTSW 2 180,303,501 (GRCm39) missense possibly damaging 0.81
R7951:Dido1 UTSW 2 180,312,674 (GRCm39) missense probably benign 0.01
R8033:Dido1 UTSW 2 180,316,635 (GRCm39) missense probably damaging 1.00
R8069:Dido1 UTSW 2 180,302,705 (GRCm39) missense probably benign
R8331:Dido1 UTSW 2 180,302,242 (GRCm39) missense probably benign 0.00
R8479:Dido1 UTSW 2 180,315,022 (GRCm39) critical splice donor site probably null
R8936:Dido1 UTSW 2 180,303,195 (GRCm39) missense probably benign
R9089:Dido1 UTSW 2 180,303,293 (GRCm39) missense probably benign 0.00
R9647:Dido1 UTSW 2 180,315,068 (GRCm39) missense probably benign 0.00
R9648:Dido1 UTSW 2 180,302,468 (GRCm39) missense probably damaging 1.00
R9784:Dido1 UTSW 2 180,325,354 (GRCm39) missense probably benign 0.27
V1024:Dido1 UTSW 2 180,330,807 (GRCm39) missense probably benign 0.12
X0011:Dido1 UTSW 2 180,302,627 (GRCm39) missense probably benign 0.00
X0019:Dido1 UTSW 2 180,313,365 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- GCCCGTACAGATACAGTAACTG -3'
(R):5'- GGGTATTTCTGAGGCCCGAG -3'

Sequencing Primer
(F):5'- GTACAGATACAGTAACTGCCCAC -3'
(R):5'- AGGGCGGCTCCTGGAAAG -3'
Posted On 2015-10-08