Incidental Mutation 'R4523:Dido1'
ID 334293
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 042004-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R4523 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 180299757-180351792 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180314085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 852 (I852V)
Ref Sequence ENSEMBL: ENSMUSP00000099346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037764] [ENSMUST00000087517] [ENSMUST00000103056] [ENSMUST00000103057]
AlphaFold Q8C9B9
Predicted Effect probably damaging
Transcript: ENSMUST00000037764
AA Change: I312V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048315
Gene: ENSMUSG00000038914
AA Change: I312V

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 damaging
Transcript: ENSMUST00000087517
AA Change: I852V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: I852V

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 damaging
Transcript: ENSMUST00000103056
AA Change: I852V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099345
Gene: ENSMUSG00000038914
AA Change: I852V

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: I852V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914
AA Change: I852V

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
Meta Mutation Damage Score 0.1694 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (61/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 G T 5: 67,824,943 (GRCm39) T796K probably benign Het
Atr T C 9: 95,744,916 (GRCm39) S78P probably damaging Het
Calb2 C T 8: 110,875,141 (GRCm39) probably null Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cdca7 A G 2: 72,310,042 (GRCm39) S77G probably damaging Het
Cfap47 A T X: 78,553,601 (GRCm39) N291K possibly damaging Het
Cnot2 C T 10: 116,417,379 (GRCm39) probably benign Het
Cstf2t T A 19: 31,060,482 (GRCm39) V6D possibly damaging Het
Cybc1 A G 11: 121,114,934 (GRCm39) probably benign Het
Dmgdh C T 13: 93,825,138 (GRCm39) Q154* probably null Het
Dnah12 T C 14: 26,491,979 (GRCm39) F1138S probably damaging Het
Dnah12 G A 14: 26,598,915 (GRCm39) A998T possibly damaging Het
Dusp5 T G 19: 53,526,032 (GRCm39) Y225D probably damaging Het
Fam193a G A 5: 34,600,715 (GRCm39) D601N probably benign Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Fmo2 T C 1: 162,715,277 (GRCm39) K115R probably benign Het
Gak G T 5: 108,724,432 (GRCm39) Q1093K probably benign Het
Gm5277 G T 3: 78,799,493 (GRCm39) noncoding transcript Het
Hgsnat A G 8: 26,458,389 (GRCm39) probably null Het
Hycc1 T C 5: 24,170,120 (GRCm39) T410A probably benign Het
Irag1 T C 7: 110,523,048 (GRCm39) M338V probably benign Het
Map3k3 G A 11: 106,039,694 (GRCm39) R278H probably damaging Het
Muc4 T C 16: 32,555,154 (GRCm39) probably benign Het
Nectin3 C A 16: 46,268,953 (GRCm39) R483L probably benign Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Olfml2b T C 1: 170,496,791 (GRCm39) I474T probably benign Het
Optc G T 1: 133,831,492 (GRCm39) T138K possibly damaging Het
Or7g25 T C 9: 19,160,525 (GRCm39) T57A probably damaging Het
Or8k22 C G 2: 86,163,644 (GRCm39) D19H probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pard3 C T 8: 128,125,108 (GRCm39) P421S probably benign Het
Pcdhb22 G T 18: 37,653,474 (GRCm39) E647D probably benign Het
Pclo A G 5: 14,730,006 (GRCm39) probably benign Het
Prkce G T 17: 86,798,178 (GRCm39) probably null Het
Prr12 T C 7: 44,697,947 (GRCm39) D656G unknown Het
Ptprk A T 10: 28,342,048 (GRCm39) D485V probably damaging Het
Ptprn2 T C 12: 116,839,620 (GRCm39) L381P probably damaging Het
Rnf144b T C 13: 47,361,013 (GRCm39) I51T probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Sh3glb2 A T 2: 30,240,711 (GRCm39) V118E probably damaging Het
Sipa1l2 C T 8: 126,219,163 (GRCm39) G58D probably damaging Het
Slc5a4a C T 10: 75,984,196 (GRCm39) A46V probably damaging Het
Spmip8 T A 8: 96,039,638 (GRCm39) Y18* probably null Het
Tgm7 C A 2: 120,929,069 (GRCm39) probably null Het
Tjap1 A G 17: 46,569,718 (GRCm39) V424A probably benign Het
Trpm6 A T 19: 18,773,864 (GRCm39) I414F probably damaging Het
Tsr3 C G 17: 25,460,723 (GRCm39) D196E probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vmn2r97 T A 17: 19,149,333 (GRCm39) N240K probably benign Het
Xdh C A 17: 74,205,339 (GRCm39) G1042V probably damaging Het
Zcchc4 A G 5: 52,941,409 (GRCm39) D68G 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
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
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'- GCTAGTGAGAAGAGCAATTTTCCC -3'
(R):5'- TGCTGCATTGAGAGACAGTC -3'

Sequencing Primer
(F):5'- CCTGGAATTTACTCTGTGGACCAG -3'
(R):5'- GTCTCAAGAAAACAACAAAGGCAAG -3'
Posted On 2015-08-18