Incidental Mutation 'R7951:Dido1'
ID 649542
Institutional Source Beutler Lab
Gene Symbol Dido1
Ensembl Gene ENSMUSG00000038914
Gene Name death inducer-obliterator 1
Synonyms D130048F08Rik, Datf1, 6720461J16Rik, dido, DIO-1, C130092D22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R7951 (G1)
Quality Score 214.009
Status Not validated
Chromosome 2
Chromosomal Location 180299757-180351792 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180312674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1074 (C1074S)
Ref Sequence ENSEMBL: ENSMUSP00000084794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037764] [ENSMUST00000087517] [ENSMUST00000103056] [ENSMUST00000103057]
AlphaFold Q8C9B9
Predicted Effect probably benign
Transcript: ENSMUST00000037764
AA Change: C534S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000048315
Gene: ENSMUSG00000038914
AA Change: C534S

DomainStartEndE-ValueType
TFS2M 129 230 1.16e-45 SMART
low complexity region 397 422 N/A INTRINSIC
low complexity region 483 497 N/A INTRINSIC
Pfam:SPOC 512 618 4.9e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087517
AA Change: C1074S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: C1074S

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 probably benign
Transcript: ENSMUST00000103056
AA Change: C1074S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099345
Gene: ENSMUSG00000038914
AA Change: C1074S

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 benign
Transcript: ENSMUST00000103057
AA Change: C1074S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914
AA Change: C1074S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 G A 17: 85,004,957 (GRCm39) G575S probably damaging Het
Acacb G T 5: 114,326,401 (GRCm39) A256S probably damaging Het
Adamts20 T C 15: 94,238,947 (GRCm39) D757G probably damaging Het
Adgra3 A G 5: 50,121,126 (GRCm39) V834A probably damaging Het
Adgrv1 A G 13: 81,711,689 (GRCm39) S1096P probably damaging Het
Bmal2 T G 6: 146,714,732 (GRCm39) L135R probably damaging Het
Cct4 T C 11: 22,940,868 (GRCm39) S39P probably benign Het
Cep97 T C 16: 55,725,820 (GRCm39) N689S probably benign Het
Col11a1 T A 3: 113,888,864 (GRCm39) D302E unknown Het
D5Ertd579e C T 5: 36,772,517 (GRCm39) S626N probably benign Het
Dnah17 C T 11: 118,009,592 (GRCm39) R660H possibly damaging Het
Dnhd1 A T 7: 105,327,211 (GRCm39) D720V probably damaging Het
Dst T C 1: 34,240,267 (GRCm39) M1872T probably benign Het
Enpp2 T C 15: 54,783,089 (GRCm39) I13M probably benign Het
Fcho1 A G 8: 72,164,920 (GRCm39) F454L probably benign Het
Gad2 A G 2: 22,513,499 (GRCm39) K43R probably damaging Het
Galnt3 C T 2: 65,928,186 (GRCm39) E237K probably benign Het
Hey1 A G 3: 8,729,932 (GRCm39) L175P possibly damaging Het
Jade1 G A 3: 41,546,190 (GRCm39) V72M probably damaging Het
Klhl28 G A 12: 65,003,875 (GRCm39) R213W probably damaging Het
Kprp C T 3: 92,731,637 (GRCm39) R471H unknown Het
Lmtk3 A T 7: 45,435,030 (GRCm39) M27L probably benign Het
Lrp1 A T 10: 127,374,933 (GRCm39) Y4508* probably null Het
Lypd5 T C 7: 24,051,060 (GRCm39) V57A probably damaging Het
Mapk9 T G 11: 49,754,422 (GRCm39) S58R probably damaging Het
Mycbp2 T C 14: 103,452,898 (GRCm39) K1661R probably damaging Het
Myl2 C T 5: 122,244,750 (GRCm39) A140V probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nckap1l T C 15: 103,381,542 (GRCm39) Y428H probably damaging Het
Nt5c1a T C 4: 123,105,978 (GRCm39) F144S probably benign Het
Ofcc1 C T 13: 40,433,781 (GRCm39) R108Q probably benign Het
Or4c100 A T 2: 88,356,148 (GRCm39) T74S probably damaging Het
Or5d14 A T 2: 87,880,601 (GRCm39) Y122* probably null Het
Or5d40 G T 2: 88,015,616 (GRCm39) V132F probably damaging Het
Pabpc4 T G 4: 123,177,532 (GRCm39) V42G probably damaging Het
Prrc2a A T 17: 35,379,477 (GRCm39) N311K unknown Het
Rcbtb2 A T 14: 73,403,992 (GRCm39) R197* probably null Het
Rfc4 A G 16: 22,934,135 (GRCm39) I222T probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Rufy1 T C 11: 50,321,736 (GRCm39) D66G probably benign Het
Rxfp1 A T 3: 79,559,682 (GRCm39) C380S probably damaging Het
Scn5a A G 9: 119,358,145 (GRCm39) C699R probably damaging Het
Syngap1 G T 17: 27,185,942 (GRCm39) A1291S possibly damaging Het
Tab1 C A 15: 80,043,058 (GRCm39) N417K probably damaging Het
Tenm3 A G 8: 48,763,738 (GRCm39) V772A possibly damaging Het
Tmem25 T A 9: 44,706,790 (GRCm39) K285I probably damaging Het
Tnks2 A G 19: 36,839,555 (GRCm39) N51D Het
Trpm7 G A 2: 126,655,188 (GRCm39) T1250I possibly damaging Het
Trpv4 T C 5: 114,760,871 (GRCm39) D820G probably benign Het
Tsg101 T A 7: 46,540,891 (GRCm39) I289L probably benign Het
Tubgcp2 C A 7: 139,587,893 (GRCm39) R244L possibly damaging Het
Vmn1r173 C A 7: 23,402,680 (GRCm39) T305K unknown Het
Vmn1r53 A T 6: 90,201,132 (GRCm39) I64K possibly damaging Het
Zfp444 T C 7: 6,191,185 (GRCm39) V122A probably benign Het
Zfp599 A G 9: 22,160,764 (GRCm39) L467P probably damaging Het
Zic1 T C 9: 91,244,654 (GRCm39) E335G probably 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
R4674:Dido1 UTSW 2 180,329,352 (GRCm39) missense probably damaging 0.97
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
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'- GCCATACTGCATAACCTGTTG -3'
(R):5'- TGCTCCCAAGTATGAAGTCATC -3'

Sequencing Primer
(F):5'- GGGCAGCATGAAAACACAC -3'
(R):5'- CCAGAAGGAGATACAACCCT -3'
Posted On 2020-09-15