Incidental Mutation 'R6477:Dido1'
| ID |
516829 |
| 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 |
044609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180302274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1877
(T1877S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
| AlphaFold |
Q8C9B9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087517
AA Change: T1877S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: T1877S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,909,696 (GRCm39) |
D23G |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,924,325 (GRCm39) |
I1659T |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,409,494 (GRCm39) |
V481M |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Cfap161 |
T |
A |
7: 83,443,230 (GRCm39) |
R20* |
probably null |
Het |
| Cops7a |
A |
T |
6: 124,937,139 (GRCm39) |
V184E |
probably damaging |
Het |
| Cpa3 |
T |
C |
3: 20,293,739 (GRCm39) |
E83G |
possibly damaging |
Het |
| Crls1 |
C |
T |
2: 132,703,153 (GRCm39) |
S201L |
probably benign |
Het |
| Cyp4f39 |
C |
A |
17: 32,700,791 (GRCm39) |
S153R |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,759,843 (GRCm39) |
I410N |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,673,796 (GRCm39) |
S1079G |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,327,093 (GRCm39) |
V681I |
probably benign |
Het |
| Dst |
A |
G |
1: 34,247,809 (GRCm39) |
|
probably null |
Het |
| Eya2 |
A |
G |
2: 165,605,681 (GRCm39) |
T362A |
probably benign |
Het |
| Garre1 |
A |
G |
7: 33,957,055 (GRCm39) |
|
probably null |
Het |
| Hgs |
G |
A |
11: 120,360,481 (GRCm39) |
V60M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,571,343 (GRCm39) |
|
probably null |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Kdr |
C |
A |
5: 76,129,501 (GRCm39) |
A129S |
probably benign |
Het |
| Lhcgr |
A |
T |
17: 89,049,801 (GRCm39) |
M575K |
probably damaging |
Het |
| Lsamp |
G |
T |
16: 41,988,528 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
T |
C |
8: 75,839,230 (GRCm39) |
V161A |
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,675,115 (GRCm39) |
H249L |
probably damaging |
Het |
| Mroh5 |
A |
G |
15: 73,662,604 (GRCm39) |
S405P |
probably damaging |
Het |
| Mroh9 |
C |
A |
1: 162,903,873 (GRCm39) |
L46F |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,718,192 (GRCm39) |
H357Q |
probably damaging |
Het |
| Myrf |
G |
A |
19: 10,206,149 (GRCm39) |
P89L |
probably benign |
Het |
| Mzb1 |
C |
T |
18: 35,781,311 (GRCm39) |
|
probably null |
Het |
| Naip6 |
A |
G |
13: 100,452,516 (GRCm39) |
S182P |
probably damaging |
Het |
| Nmur2 |
A |
T |
11: 55,920,417 (GRCm39) |
F276Y |
probably damaging |
Het |
| Nudt12 |
G |
T |
17: 59,318,140 (GRCm39) |
S35Y |
probably benign |
Het |
| Or51h5 |
T |
A |
7: 102,577,585 (GRCm39) |
V250E |
probably damaging |
Het |
| Or56b1 |
T |
C |
7: 104,284,886 (GRCm39) |
S2P |
probably benign |
Het |
| Or9m1 |
A |
G |
2: 87,733,334 (GRCm39) |
S229P |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,889,318 (GRCm39) |
I541V |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,884,694 (GRCm39) |
K1258E |
probably benign |
Het |
| Plcxd2 |
C |
G |
16: 45,801,022 (GRCm39) |
K67N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,586,627 (GRCm39) |
T930A |
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,138,728 (GRCm39) |
|
probably null |
Het |
| Ppp1r14bl |
A |
T |
1: 23,140,861 (GRCm39) |
L151Q |
probably benign |
Het |
| Pramel6 |
A |
G |
2: 87,340,946 (GRCm39) |
Y426C |
possibly damaging |
Het |
| Prss27 |
A |
G |
17: 24,263,235 (GRCm39) |
T83A |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,466,383 (GRCm39) |
V915E |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,345,408 (GRCm39) |
D10E |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,890,350 (GRCm39) |
E121G |
probably damaging |
Het |
| Senp6 |
A |
T |
9: 80,000,907 (GRCm39) |
R39* |
probably null |
Het |
| Sergef |
A |
T |
7: 46,283,250 (GRCm39) |
I94N |
probably benign |
Het |
| Slc30a9 |
C |
T |
5: 67,485,867 (GRCm39) |
R183W |
probably benign |
Het |
| Smurf1 |
C |
T |
5: 144,826,602 (GRCm39) |
R414H |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,653,166 (GRCm39) |
W1566R |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,901,334 (GRCm39) |
|
probably null |
Het |
| Tnni1 |
T |
C |
1: 135,733,304 (GRCm39) |
V42A |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,938,513 (GRCm39) |
Y3098C |
probably damaging |
Het |
| Ubald2 |
T |
C |
11: 116,325,400 (GRCm39) |
F46L |
probably benign |
Het |
| Ubqln5 |
G |
A |
7: 103,777,465 (GRCm39) |
S453F |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,809,773 (GRCm39) |
R1248* |
probably null |
Het |
| Utp20 |
A |
G |
10: 88,604,780 (GRCm39) |
V1705A |
probably benign |
Het |
| Zfp60 |
G |
A |
7: 27,449,228 (GRCm39) |
R632H |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,942,560 (GRCm39) |
Y957C |
probably damaging |
Het |
| Zfp825 |
A |
T |
13: 74,629,029 (GRCm39) |
S162R |
possibly damaging |
Het |
| Zfp831 |
A |
C |
2: 174,545,960 (GRCm39) |
K1355T |
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 |
|
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 |
|
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'- TTTTCAAACTGACTAGGATGGGGC -3'
(R):5'- CAGATTTGGGGCACAGAAGC -3'
Sequencing Primer
(F):5'- TGGGCCCACGAAATGAC -3'
(R):5'- AGAAGCCACCAATCCCTTCCTTATTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation