Incidental Mutation 'R0044:Dido1'
ID |
32861 |
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 |
038338-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R0044 (G1)
|
Quality Score |
213 |
Status
|
Validated
(trace)
|
Chromosome |
2 |
Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 180303612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 1431
(A1431T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
AlphaFold |
Q8C9B9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087517
AA Change: A1431T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084794 Gene: ENSMUSG00000038914 AA Change: A1431T
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 |
0.1204 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
100% (77/77) |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430571L13Rik |
A |
C |
9: 107,219,698 (GRCm39) |
R50S |
probably damaging |
Het |
Actn2 |
G |
T |
13: 12,290,013 (GRCm39) |
T176N |
possibly damaging |
Het |
Adamts7 |
T |
C |
9: 90,053,641 (GRCm39) |
V62A |
possibly damaging |
Het |
Adcy2 |
A |
G |
13: 68,876,018 (GRCm39) |
S495P |
possibly damaging |
Het |
Agbl3 |
A |
T |
6: 34,776,834 (GRCm39) |
M447L |
probably damaging |
Het |
Asxl1 |
C |
T |
2: 153,242,129 (GRCm39) |
T893I |
probably benign |
Het |
Atp11b |
T |
A |
3: 35,866,401 (GRCm39) |
I400N |
probably damaging |
Het |
Bpifb2 |
C |
T |
2: 153,724,599 (GRCm39) |
|
probably benign |
Het |
Capn1 |
T |
A |
19: 6,064,373 (GRCm39) |
Y42F |
probably benign |
Het |
Cdk5rap2 |
A |
T |
4: 70,279,138 (GRCm39) |
L190H |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,871,295 (GRCm39) |
I594V |
probably null |
Het |
Cpsf1 |
A |
G |
15: 76,483,753 (GRCm39) |
V830A |
probably benign |
Het |
Cyp2c70 |
T |
A |
19: 40,153,815 (GRCm39) |
N258I |
possibly damaging |
Het |
Dctn1 |
T |
G |
6: 83,168,116 (GRCm39) |
Y386D |
probably damaging |
Het |
Degs2 |
T |
C |
12: 108,658,413 (GRCm39) |
N189D |
probably damaging |
Het |
Diras1 |
G |
T |
10: 80,857,972 (GRCm39) |
S93* |
probably null |
Het |
E130308A19Rik |
T |
A |
4: 59,690,290 (GRCm39) |
H41Q |
possibly damaging |
Het |
Ebf2 |
C |
T |
14: 67,548,417 (GRCm39) |
|
probably benign |
Het |
Fcho2 |
A |
G |
13: 98,892,052 (GRCm39) |
|
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,358,020 (GRCm39) |
Y681* |
probably null |
Het |
Gm10036 |
A |
C |
18: 15,965,873 (GRCm39) |
K8T |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,355,457 (GRCm39) |
M2236K |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,302,520 (GRCm39) |
Y2948F |
probably damaging |
Het |
Jakmip2 |
A |
T |
18: 43,715,170 (GRCm39) |
C119S |
probably benign |
Het |
Kif1b |
A |
G |
4: 149,348,058 (GRCm39) |
|
probably benign |
Het |
Kif6 |
T |
C |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
Lpin1 |
A |
T |
12: 16,618,530 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,357,899 (GRCm39) |
I377V |
probably benign |
Het |
Mavs |
C |
A |
2: 131,083,944 (GRCm39) |
T147N |
probably damaging |
Het |
Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
Mreg |
T |
G |
1: 72,201,534 (GRCm39) |
T153P |
probably damaging |
Het |
Naglu |
T |
C |
11: 100,962,043 (GRCm39) |
I172T |
probably damaging |
Het |
Odad4 |
A |
T |
11: 100,457,827 (GRCm39) |
I477F |
probably damaging |
Het |
Ogdhl |
T |
C |
14: 32,061,285 (GRCm39) |
V492A |
possibly damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,974 (GRCm39) |
I32T |
possibly damaging |
Het |
Parvg |
A |
G |
15: 84,222,083 (GRCm39) |
E323G |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,532,527 (GRCm39) |
L664S |
probably damaging |
Het |
Pgm2l1 |
A |
G |
7: 99,899,539 (GRCm39) |
N51S |
probably benign |
Het |
Pik3r6 |
A |
G |
11: 68,435,576 (GRCm39) |
T609A |
probably benign |
Het |
Plcb4 |
T |
A |
2: 135,813,776 (GRCm39) |
V705E |
probably damaging |
Het |
Plppr5 |
T |
A |
3: 117,465,538 (GRCm39) |
|
probably null |
Het |
Prkg2 |
C |
A |
5: 99,120,989 (GRCm39) |
D411Y |
probably damaging |
Het |
Ptprd |
A |
G |
4: 76,004,566 (GRCm39) |
V63A |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,007,402 (GRCm39) |
I1655N |
probably damaging |
Het |
Raf1 |
T |
A |
6: 115,600,476 (GRCm39) |
D10V |
probably benign |
Het |
Rexo1 |
T |
A |
10: 80,380,212 (GRCm39) |
Q928L |
probably benign |
Het |
Rpl7l1 |
A |
C |
17: 47,089,456 (GRCm39) |
|
probably null |
Het |
Rrm2b |
A |
G |
15: 37,953,932 (GRCm39) |
S39P |
possibly damaging |
Het |
Scn5a |
A |
G |
9: 119,321,113 (GRCm39) |
|
probably null |
Het |
Sgtb |
A |
G |
13: 104,265,768 (GRCm39) |
T93A |
probably benign |
Het |
Sigirr |
G |
T |
7: 140,672,226 (GRCm39) |
|
probably null |
Het |
Slc16a7 |
T |
C |
10: 125,063,951 (GRCm39) |
D462G |
probably benign |
Het |
Slc25a30 |
C |
T |
14: 76,007,089 (GRCm39) |
A85T |
probably benign |
Het |
Spata24 |
A |
G |
18: 35,789,887 (GRCm39) |
S167P |
probably damaging |
Het |
Spock3 |
C |
T |
8: 63,597,041 (GRCm39) |
T115I |
possibly damaging |
Het |
Srgap2 |
A |
G |
1: 131,247,289 (GRCm39) |
I581T |
possibly damaging |
Het |
Syn2 |
A |
T |
6: 115,112,108 (GRCm39) |
M23L |
unknown |
Het |
Synrg |
G |
A |
11: 83,900,007 (GRCm39) |
V839I |
probably damaging |
Het |
Tmtc1 |
A |
G |
6: 148,314,327 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
C |
A |
10: 18,887,374 (GRCm39) |
M50I |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,202,972 (GRCm39) |
I721N |
possibly damaging |
Het |
Ttc22 |
T |
G |
4: 106,494,003 (GRCm39) |
V321G |
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,303,911 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,164,369 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,269,281 (GRCm39) |
|
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,742,441 (GRCm39) |
I272L |
possibly damaging |
Het |
Vrtn |
T |
A |
12: 84,695,379 (GRCm39) |
L43H |
probably damaging |
Het |
Wnk1 |
G |
T |
6: 120,014,110 (GRCm39) |
R162S |
probably damaging |
Het |
Xkr9 |
G |
A |
1: 13,754,286 (GRCm39) |
W93* |
probably null |
Het |
Zfp804b |
G |
T |
5: 6,819,655 (GRCm39) |
P1136H |
probably damaging |
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 |
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 |
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'- GGTGACATCAATGCATCGGACACAG -3'
(R):5'- CACATCAGGATTCCAAGGCCAAGG -3'
Sequencing Primer
(F):5'- TCGGAGAGCTTCTTCTTGC -3'
(R):5'- GTTCTCAAAAGACAAGGCTCTG -3'
|
Posted On |
2013-05-09 |