Incidental Mutation 'R0734:Dido1'
ID |
68131 |
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 |
038915-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R0734 (G1)
|
Quality Score |
209 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 180301835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 2023
(Q2023P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
AlphaFold |
Q8C9B9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087517
AA Change: Q2023P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000084794 Gene: ENSMUSG00000038914 AA Change: Q2023P
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 |
0.0595 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 93.3%
|
Validation Efficiency |
99% (80/81) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
A |
16: 4,668,198 (GRCm39) |
S530T |
probably benign |
Het |
Acer2 |
G |
T |
4: 86,835,796 (GRCm39) |
K223N |
probably benign |
Het |
Adam19 |
T |
G |
11: 46,018,230 (GRCm39) |
C431G |
probably damaging |
Het |
Adamts16 |
T |
G |
13: 70,886,600 (GRCm39) |
|
probably benign |
Het |
Aox1 |
A |
T |
1: 58,344,500 (GRCm39) |
E531V |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,872,883 (GRCm39) |
N720K |
probably benign |
Het |
Atrnl1 |
T |
A |
19: 57,643,293 (GRCm39) |
W394R |
probably damaging |
Het |
Bcl6 |
T |
C |
16: 23,786,889 (GRCm39) |
E634G |
probably damaging |
Het |
Cfap65 |
T |
A |
1: 74,958,046 (GRCm39) |
Y954F |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,325,971 (GRCm39) |
V168A |
probably damaging |
Het |
Cped1 |
C |
T |
6: 22,085,040 (GRCm39) |
P210S |
probably damaging |
Het |
Crb1 |
C |
T |
1: 139,264,822 (GRCm39) |
V199M |
probably benign |
Het |
Cyp2j6 |
A |
T |
4: 96,412,081 (GRCm39) |
|
probably benign |
Het |
Dhrs3 |
C |
G |
4: 144,653,746 (GRCm39) |
S289W |
probably damaging |
Het |
Dlg4 |
G |
A |
11: 69,933,531 (GRCm39) |
G550R |
probably damaging |
Het |
Dnah12 |
C |
A |
14: 26,521,970 (GRCm39) |
H1928N |
probably benign |
Het |
Dthd1 |
A |
C |
5: 62,996,753 (GRCm39) |
|
probably benign |
Het |
Erg |
C |
A |
16: 95,170,884 (GRCm39) |
G269C |
possibly damaging |
Het |
Erich6 |
G |
A |
3: 58,536,809 (GRCm39) |
|
probably benign |
Het |
F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
Fancc |
T |
C |
13: 63,479,656 (GRCm39) |
R300G |
probably damaging |
Het |
Fcer1g |
T |
A |
1: 171,058,748 (GRCm39) |
K47* |
probably null |
Het |
Flt4 |
A |
G |
11: 49,517,544 (GRCm39) |
T289A |
possibly damaging |
Het |
Gcnt2 |
T |
A |
13: 41,013,997 (GRCm39) |
F56Y |
probably benign |
Het |
Gpatch8 |
G |
T |
11: 102,372,226 (GRCm39) |
S437R |
unknown |
Het |
Grin2a |
T |
A |
16: 9,397,475 (GRCm39) |
I871F |
possibly damaging |
Het |
Hsd17b4 |
T |
C |
18: 50,303,844 (GRCm39) |
V439A |
possibly damaging |
Het |
Hykk |
A |
T |
9: 54,853,716 (GRCm39) |
K346M |
possibly damaging |
Het |
Ifi208 |
T |
C |
1: 173,510,901 (GRCm39) |
L352S |
probably damaging |
Het |
Ikzf1 |
T |
C |
11: 11,708,195 (GRCm39) |
V110A |
probably damaging |
Het |
Irak3 |
A |
T |
10: 119,981,542 (GRCm39) |
|
probably benign |
Het |
Lamp5 |
T |
A |
2: 135,900,950 (GRCm39) |
V50E |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrch3 |
C |
T |
16: 32,817,853 (GRCm39) |
R570* |
probably null |
Het |
Map1lc3a |
T |
C |
2: 155,118,896 (GRCm39) |
V20A |
possibly damaging |
Het |
Map3k14 |
C |
A |
11: 103,117,826 (GRCm39) |
K655N |
probably benign |
Het |
Mark2 |
A |
G |
19: 7,263,346 (GRCm39) |
|
probably benign |
Het |
Mbtd1 |
G |
A |
11: 93,813,972 (GRCm39) |
G205D |
probably damaging |
Het |
Med13 |
T |
C |
11: 86,192,063 (GRCm39) |
T861A |
probably benign |
Het |
Meltf |
T |
A |
16: 31,700,776 (GRCm39) |
Y99N |
probably damaging |
Het |
Mex3d |
G |
A |
10: 80,217,366 (GRCm39) |
T617I |
possibly damaging |
Het |
Muc13 |
G |
A |
16: 33,623,452 (GRCm39) |
V249I |
probably damaging |
Het |
Myo18a |
C |
A |
11: 77,738,230 (GRCm39) |
P1688Q |
probably damaging |
Het |
Naaladl1 |
A |
T |
19: 6,162,904 (GRCm39) |
|
probably null |
Het |
Ncoa3 |
T |
A |
2: 165,911,111 (GRCm39) |
|
probably benign |
Het |
Nf2 |
T |
C |
11: 4,770,409 (GRCm39) |
T67A |
probably benign |
Het |
Nin |
A |
G |
12: 70,076,887 (GRCm39) |
V1056A |
probably benign |
Het |
Or1p1 |
A |
T |
11: 74,179,772 (GRCm39) |
Q100L |
probably damaging |
Het |
Or4d10c |
T |
A |
19: 12,065,483 (GRCm39) |
R224S |
probably benign |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
P3h1 |
T |
C |
4: 119,095,885 (GRCm39) |
L331P |
probably damaging |
Het |
Pabpc4l |
T |
C |
3: 46,401,408 (GRCm39) |
K79E |
possibly damaging |
Het |
Pam |
T |
A |
1: 97,792,087 (GRCm39) |
R445* |
probably null |
Het |
Pcdhb6 |
T |
C |
18: 37,468,387 (GRCm39) |
I436T |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,174,794 (GRCm39) |
Y1987H |
probably damaging |
Het |
Plch2 |
G |
A |
4: 155,080,740 (GRCm39) |
T477I |
probably damaging |
Het |
Postn |
G |
A |
3: 54,270,136 (GRCm39) |
G72R |
probably damaging |
Het |
Proca1 |
G |
A |
11: 78,092,628 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
A |
4: 83,381,825 (GRCm39) |
|
probably benign |
Het |
Ptprd |
G |
A |
4: 76,058,834 (GRCm39) |
P153L |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,430,051 (GRCm39) |
D242G |
probably damaging |
Het |
Ric1 |
T |
A |
19: 29,572,218 (GRCm39) |
I671K |
possibly damaging |
Het |
Rxrg |
T |
A |
1: 167,455,013 (GRCm39) |
C199S |
probably damaging |
Het |
Sec24c |
A |
C |
14: 20,743,813 (GRCm39) |
D1006A |
probably damaging |
Het |
Sec63 |
A |
G |
10: 42,672,204 (GRCm39) |
T173A |
probably benign |
Het |
Sfxn5 |
T |
C |
6: 85,244,847 (GRCm39) |
|
probably benign |
Het |
Spam1 |
A |
G |
6: 24,796,948 (GRCm39) |
I300V |
probably benign |
Het |
Spem1 |
A |
G |
11: 69,712,097 (GRCm39) |
L189P |
probably damaging |
Het |
Sptbn2 |
A |
T |
19: 4,798,151 (GRCm39) |
R1959* |
probably null |
Het |
Timeless |
C |
T |
10: 128,085,929 (GRCm39) |
R935W |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,896,400 (GRCm39) |
Y286H |
possibly damaging |
Het |
Ttyh2 |
A |
G |
11: 114,601,019 (GRCm39) |
|
probably benign |
Het |
Zbtb21 |
C |
T |
16: 97,753,827 (GRCm39) |
C180Y |
probably damaging |
Het |
Zfp746 |
T |
C |
6: 48,041,833 (GRCm39) |
T298A |
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 |
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 |
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'- ATGGCCTTTGCCTTCTCGGAAC -3'
(R):5'- AGACGGCCACTGCTAACTCAAATG -3'
Sequencing Primer
(F):5'- AACTCTGATGTGGCCCACTG -3'
(R):5'- TCTCAGTTTGGAGCCCAAAG -3'
|
Posted On |
2013-09-03 |