Incidental Mutation 'R2027:Dido1'
ID 220746
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 040035-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R2027 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 180299757-180351792 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 180330974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 158 (L158*)
Ref Sequence ENSEMBL: ENSMUSP00000119689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087517] [ENSMUST00000103055] [ENSMUST00000103056] [ENSMUST00000103057] [ENSMUST00000130986]
AlphaFold Q8C9B9
Predicted Effect probably null
Transcript: ENSMUST00000087517
AA Change: L158*
SMART Domains Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: L158*

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 null
Transcript: ENSMUST00000103055
AA Change: L158*
SMART Domains Protein: ENSMUSP00000099344
Gene: ENSMUSG00000038914
AA Change: L158*

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 null
Transcript: ENSMUST00000103056
AA Change: L158*
SMART Domains Protein: ENSMUSP00000099345
Gene: ENSMUSG00000038914
AA Change: L158*

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 null
Transcript: ENSMUST00000103057
AA Change: L158*
SMART Domains Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914
AA Change: L158*

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 null
Transcript: ENSMUST00000130986
AA Change: L158*
SMART Domains Protein: ENSMUSP00000119689
Gene: ENSMUSG00000038914
AA Change: L158*

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
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,502,254 (GRCm39) V138A possibly damaging Het
Aatk A G 11: 119,900,143 (GRCm39) S1291P probably damaging Het
Adgrv1 C T 13: 81,743,301 (GRCm39) V67M probably damaging Het
Apoa4 G A 9: 46,154,298 (GRCm39) V300M probably damaging Het
Bcl2a1d A T 9: 88,613,438 (GRCm39) V112E possibly damaging Het
Bltp1 T A 3: 37,102,110 (GRCm39) probably benign Het
Cabp2 T A 19: 4,137,126 (GRCm39) M166K probably damaging Het
Camsap1 A G 2: 25,828,538 (GRCm39) V1062A possibly damaging Het
Cap1 T G 4: 122,756,686 (GRCm39) probably benign Het
Caprin2 A G 6: 148,779,385 (GRCm39) Y141H probably damaging Het
Card11 T C 5: 140,892,522 (GRCm39) Y181C probably damaging Het
Ccdc107 T C 4: 43,495,874 (GRCm39) V259A probably benign Het
Ccn4 A G 15: 66,789,258 (GRCm39) E248G possibly damaging Het
Chd9 A G 8: 91,634,619 (GRCm39) probably benign Het
Cibar1 T A 4: 12,171,216 (GRCm39) D79V probably damaging Het
Col12a1 T C 9: 79,553,075 (GRCm39) probably null Het
Cuzd1 T C 7: 130,921,820 (GRCm39) T61A possibly damaging Het
Dbp C A 7: 45,357,700 (GRCm39) D89E probably benign Het
Dhps A T 8: 85,799,240 (GRCm39) N140Y probably damaging Het
Dnah9 T G 11: 65,846,164 (GRCm39) N2958T probably benign Het
Dpp8 T A 9: 64,986,056 (GRCm39) Y849N probably damaging Het
Dsg2 A G 18: 20,716,061 (GRCm39) probably benign Het
Efemp1 A T 11: 28,864,696 (GRCm39) Y250F possibly damaging Het
Faxc T C 4: 21,958,439 (GRCm39) probably benign Het
Frem3 G T 8: 81,421,966 (GRCm39) C2122F possibly damaging Het
Gan T C 8: 117,914,238 (GRCm39) probably null Het
Gnl1 A G 17: 36,293,850 (GRCm39) N274D probably benign Het
Hook3 T C 8: 26,528,126 (GRCm39) E588G probably damaging Het
Itpr1 C A 6: 108,363,814 (GRCm39) S812Y possibly damaging Het
Kbtbd3 C T 9: 4,317,075 (GRCm39) probably benign Het
Macf1 C T 4: 123,265,711 (GRCm39) A4821T probably damaging Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Msantd5f6 A G 4: 73,321,295 (GRCm39) I154T possibly damaging Het
Myh11 A G 16: 14,050,532 (GRCm39) Y478H probably damaging Het
Myo7b A G 18: 32,118,013 (GRCm39) V871A probably benign Het
Nckap1 A T 2: 80,365,862 (GRCm39) M466K probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or4k6 A G 14: 50,475,406 (GRCm39) I312T probably benign Het
Or52r1b A T 7: 102,690,731 (GRCm39) H15L probably benign Het
Or5aq1b T A 2: 86,901,897 (GRCm39) N194Y possibly damaging Het
Or5m13 A C 2: 85,749,114 (GRCm39) S282R probably damaging Het
Or9k2 A G 10: 129,998,604 (GRCm39) I197T probably benign Het
Or9s23 A T 1: 92,501,489 (GRCm39) T199S probably damaging Het
Otof T C 5: 30,578,358 (GRCm39) T97A probably benign Het
Peli2 G A 14: 48,493,602 (GRCm39) E275K probably benign Het
Pik3c2a T C 7: 115,950,057 (GRCm39) Y1320C probably damaging Het
Pkn1 A G 8: 84,398,007 (GRCm39) V795A probably damaging Het
Pramel5 A G 4: 143,998,274 (GRCm39) L323P probably damaging Het
Prr5 A T 15: 84,585,580 (GRCm39) R183W probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rabgef1 A G 5: 130,237,620 (GRCm39) D231G possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rc3h1 C T 1: 160,782,507 (GRCm39) P662L probably benign Het
Rpl7a-ps5 G T 17: 58,146,090 (GRCm39) Q47K probably benign Het
Sclt1 G A 3: 41,685,323 (GRCm39) T45I probably benign Het
Slc22a17 A G 14: 55,145,543 (GRCm39) I202T probably damaging Het
Slc25a13 A G 6: 6,073,487 (GRCm39) L457S probably damaging Het
Slc44a3 T C 3: 121,257,059 (GRCm39) probably benign Het
Slc7a9 G A 7: 35,153,562 (GRCm39) V188M probably damaging Het
Spata31d1e A G 13: 59,890,401 (GRCm39) M55T possibly damaging Het
Tmem161a T A 8: 70,630,170 (GRCm39) F119I probably damaging Het
Tmem240 A G 4: 155,819,892 (GRCm39) D32G possibly damaging Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Uqcrc1 G A 9: 108,776,083 (GRCm39) V262M probably benign Het
Vmn1r87 G A 7: 12,865,823 (GRCm39) R155C probably damaging Het
Vmn2r100 A T 17: 19,742,334 (GRCm39) Q236L probably benign Het
Vmn2r97 T A 17: 19,149,944 (GRCm39) I444N unknown Het
Yif1a A T 19: 5,139,900 (GRCm39) H115L probably damaging Het
Zfp280b T C 10: 75,874,328 (GRCm39) L69S probably damaging Het
Zfp579 C A 7: 4,996,520 (GRCm39) E464* probably null 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
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
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'- TCTGTCTCTGACTGGGACACTG -3'
(R):5'- TGAGCCCACATCTTCCACAG -3'

Sequencing Primer
(F):5'- ACACTGGTCCCTGACTAGC -3'
(R):5'- TTCCACAGTCACTGATGTGGAGAC -3'
Posted On 2014-08-25