Incidental Mutation 'R0620:Dido1'
ID |
58581 |
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 |
038809-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R0620 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 180301644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 2087
(G2087S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
AlphaFold |
Q8C9B9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087517
AA Change: G2087S
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000084794 Gene: ENSMUSG00000038914 AA Change: G2087S
Domain | Start | End | E-Value | Type |
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 |
|
Meta Mutation Damage Score |
0.0686 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
100% (74/74) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,835,094 (GRCm39) |
T679A |
possibly damaging |
Het |
Ahr |
T |
C |
12: 35,558,193 (GRCm39) |
T276A |
probably benign |
Het |
Akap9 |
A |
T |
5: 4,114,136 (GRCm39) |
Q3138H |
probably damaging |
Het |
Armt1 |
T |
A |
10: 4,382,689 (GRCm39) |
F7I |
probably benign |
Het |
B3galt2 |
A |
G |
1: 143,521,878 (GRCm39) |
R5G |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,958,576 (GRCm39) |
N2750S |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,583,395 (GRCm39) |
E365V |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,778,080 (GRCm39) |
|
probably null |
Het |
Cemip2 |
T |
A |
19: 21,795,335 (GRCm39) |
S743T |
probably benign |
Het |
Cst7 |
T |
A |
2: 150,417,806 (GRCm39) |
|
probably benign |
Het |
Defb30 |
A |
T |
14: 63,287,212 (GRCm39) |
|
probably benign |
Het |
Dio2 |
A |
G |
12: 90,704,845 (GRCm39) |
Y72H |
probably benign |
Het |
Dnah11 |
C |
T |
12: 117,951,204 (GRCm39) |
E3035K |
probably damaging |
Het |
Dnajb13 |
T |
C |
7: 100,152,456 (GRCm39) |
K287E |
possibly damaging |
Het |
Dnajc11 |
G |
A |
4: 152,058,085 (GRCm39) |
V244I |
possibly damaging |
Het |
Ect2 |
C |
T |
3: 27,193,801 (GRCm39) |
A226T |
probably damaging |
Het |
Ercc8 |
G |
A |
13: 108,310,595 (GRCm39) |
|
probably null |
Het |
Fam120b |
T |
A |
17: 15,623,189 (GRCm39) |
M389K |
probably benign |
Het |
Fam151a |
A |
G |
4: 106,605,128 (GRCm39) |
M497V |
probably benign |
Het |
Fam186b |
C |
A |
15: 99,178,009 (GRCm39) |
G439V |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,478,494 (GRCm39) |
Y185C |
probably damaging |
Het |
Gart |
T |
C |
16: 91,427,490 (GRCm39) |
|
probably benign |
Het |
Glb1l |
T |
C |
1: 75,176,364 (GRCm39) |
Y572C |
probably damaging |
Het |
Gm11563 |
C |
T |
11: 99,549,263 (GRCm39) |
A164T |
unknown |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
Gsdmc3 |
T |
A |
15: 63,731,542 (GRCm39) |
D330V |
probably damaging |
Het |
H2-DMa |
C |
T |
17: 34,356,934 (GRCm39) |
T144M |
probably damaging |
Het |
Haus6 |
A |
T |
4: 86,501,751 (GRCm39) |
F707I |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,469,767 (GRCm39) |
T4971S |
probably benign |
Het |
Ints6 |
A |
T |
14: 62,934,208 (GRCm39) |
F766L |
probably benign |
Het |
Kdm5d |
T |
A |
Y: 927,330 (GRCm39) |
M650K |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,087,166 (GRCm39) |
F881S |
possibly damaging |
Het |
Klrk1 |
C |
A |
6: 129,591,598 (GRCm39) |
Q176H |
possibly damaging |
Het |
Ky |
T |
C |
9: 102,414,820 (GRCm39) |
V244A |
probably benign |
Het |
Mia2 |
T |
A |
12: 59,201,205 (GRCm39) |
L191M |
possibly damaging |
Het |
Miga2 |
T |
A |
2: 30,271,756 (GRCm39) |
|
probably benign |
Het |
Mtss2 |
C |
T |
8: 111,464,580 (GRCm39) |
P322S |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,536,553 (GRCm39) |
|
probably benign |
Het |
Ncbp3 |
T |
A |
11: 72,940,671 (GRCm39) |
|
probably benign |
Het |
Nprl3 |
G |
A |
11: 32,184,876 (GRCm39) |
L378F |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 58,994,635 (GRCm39) |
M184L |
probably benign |
Het |
Or11g1 |
G |
T |
14: 50,651,154 (GRCm39) |
C51F |
probably benign |
Het |
Or9e1 |
T |
G |
11: 58,732,269 (GRCm39) |
C110G |
probably damaging |
Het |
Osbpl9 |
T |
C |
4: 108,940,325 (GRCm39) |
E287G |
probably damaging |
Het |
Parva |
T |
C |
7: 112,175,618 (GRCm39) |
F250L |
probably damaging |
Het |
Pcdhb11 |
C |
T |
18: 37,554,864 (GRCm39) |
Q65* |
probably null |
Het |
Phtf1 |
A |
G |
3: 103,901,081 (GRCm39) |
T377A |
probably damaging |
Het |
Pkp4 |
G |
A |
2: 59,152,987 (GRCm39) |
V612I |
possibly damaging |
Het |
Plscr2 |
C |
A |
9: 92,169,707 (GRCm39) |
S52R |
probably benign |
Het |
Pnisr |
C |
T |
4: 21,874,092 (GRCm39) |
|
probably benign |
Het |
Pole2 |
A |
C |
12: 69,256,653 (GRCm39) |
S291A |
probably damaging |
Het |
Ppp2r5d |
A |
G |
17: 46,994,944 (GRCm39) |
F586L |
probably benign |
Het |
Prrx1 |
G |
A |
1: 163,085,385 (GRCm39) |
R182C |
probably damaging |
Het |
Ptprs |
A |
G |
17: 56,736,103 (GRCm39) |
I110T |
possibly damaging |
Het |
Rasgrf2 |
G |
A |
13: 92,067,936 (GRCm39) |
|
probably benign |
Het |
Resf1 |
A |
T |
6: 149,229,873 (GRCm39) |
Q973L |
probably damaging |
Het |
Riox2 |
T |
C |
16: 59,312,255 (GRCm39) |
V464A |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,764,690 (GRCm39) |
V646A |
possibly damaging |
Het |
Ros1 |
T |
A |
10: 51,994,444 (GRCm39) |
I1279F |
probably damaging |
Het |
Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
Snx7 |
T |
C |
3: 117,640,324 (GRCm39) |
N62D |
probably damaging |
Het |
Sp100 |
G |
A |
1: 85,587,588 (GRCm39) |
|
probably null |
Het |
Stil |
A |
T |
4: 114,864,356 (GRCm39) |
I86L |
possibly damaging |
Het |
Tbc1d16 |
T |
A |
11: 119,099,864 (GRCm39) |
D170V |
probably benign |
Het |
Trappc13 |
G |
A |
13: 104,297,589 (GRCm39) |
T105M |
probably damaging |
Het |
Trhr |
T |
A |
15: 44,092,896 (GRCm39) |
S378T |
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,466,332 (GRCm39) |
|
probably null |
Het |
Vegfc |
A |
T |
8: 54,610,174 (GRCm39) |
Y110F |
probably benign |
Het |
Vmn1r184 |
C |
A |
7: 25,966,602 (GRCm39) |
P116H |
possibly damaging |
Het |
Vmn2r5 |
A |
T |
3: 64,411,235 (GRCm39) |
C444* |
probably null |
Het |
Zfp341 |
A |
G |
2: 154,476,193 (GRCm39) |
E460G |
possibly damaging |
Het |
Zfp819 |
T |
A |
7: 43,265,868 (GRCm39) |
V41E |
probably benign |
Het |
|
Other mutations in Dido1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- ACTGACACAGGTCTTTGTCCACAC -3'
(R):5'- TGTTGGAGCTACCAAGCCATCCTC -3'
Sequencing Primer
(F):5'- gtctcgccgcctttctc -3'
(R):5'- TCCTCCTCAGCATAGGAAGG -3'
|
Posted On |
2013-07-11 |