Incidental Mutation 'R6349:Dido1'
| ID |
512421 |
| 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 |
044503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 180302494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1803
(D1803E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
| AlphaFold |
Q8C9B9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087517
AA Change: D1803E
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: D1803E
| 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: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| 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 |
|---|
| 1700012A03Rik |
A |
G |
6: 32,028,595 (GRCm39) |
Y9C |
probably benign |
Het |
| 4930433I11Rik |
A |
C |
7: 40,644,196 (GRCm39) |
M622L |
possibly damaging |
Het |
| Abca8b |
C |
T |
11: 109,825,544 (GRCm39) |
|
probably null |
Het |
| Adam28 |
T |
C |
14: 68,870,621 (GRCm39) |
I351V |
probably benign |
Het |
| Adgrd1 |
A |
C |
5: 129,219,603 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
A |
10: 69,815,269 (GRCm39) |
I473N |
probably damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,822,231 (GRCm39) |
H179Q |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,863,903 (GRCm39) |
R808G |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,819,850 (GRCm39) |
I280F |
probably damaging |
Het |
| Asb2 |
C |
T |
12: 103,312,118 (GRCm39) |
M1I |
probably null |
Het |
| Astn1 |
C |
T |
1: 158,491,691 (GRCm39) |
Q1023* |
probably null |
Het |
| Cast |
T |
A |
13: 74,869,314 (GRCm39) |
E542D |
probably damaging |
Het |
| Ccdc162 |
C |
T |
10: 41,570,396 (GRCm39) |
E30K |
probably damaging |
Het |
| Ccdc87 |
T |
C |
19: 4,891,347 (GRCm39) |
V613A |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,926,304 (GRCm39) |
N832S |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,915,885 (GRCm39) |
N696I |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,857 (GRCm39) |
E161G |
possibly damaging |
Het |
| Cxcr4 |
C |
A |
1: 128,517,014 (GRCm39) |
V216F |
possibly damaging |
Het |
| Cyp4a10 |
A |
G |
4: 115,382,555 (GRCm39) |
I282V |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,902,863 (GRCm39) |
T154A |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,982,267 (GRCm39) |
I240V |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,159,803 (GRCm39) |
C484R |
probably damaging |
Het |
| Fech |
G |
T |
18: 64,603,856 (GRCm39) |
Y164* |
probably null |
Het |
| Fer1l5 |
T |
A |
1: 36,450,355 (GRCm39) |
W1175R |
probably damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,372 (GRCm39) |
Y241H |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,793,974 (GRCm39) |
Y117H |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,823,416 (GRCm39) |
M6383K |
probably benign |
Het |
| Gcc2 |
T |
A |
10: 58,105,296 (GRCm39) |
D141E |
probably benign |
Het |
| Glt1d1 |
A |
C |
5: 127,783,950 (GRCm39) |
R301S |
probably benign |
Het |
| Hars1 |
G |
C |
18: 36,916,107 (GRCm39) |
A16G |
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,278,385 (GRCm39) |
G1696C |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,145,091 (GRCm39) |
L814* |
probably null |
Het |
| Izumo4 |
T |
A |
10: 80,538,551 (GRCm39) |
M1K |
probably null |
Het |
| Kdm5d |
T |
A |
Y: 916,847 (GRCm39) |
M414K |
probably damaging |
Homo |
| Kif21b |
G |
A |
1: 136,086,064 (GRCm39) |
V812I |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,988,661 (GRCm39) |
D270G |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 120,936,486 (GRCm39) |
S1347P |
probably benign |
Het |
| Mras |
T |
A |
9: 99,276,669 (GRCm39) |
D67V |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,509 (GRCm39) |
Y183* |
probably null |
Het |
| Muc16 |
A |
T |
9: 18,568,625 (GRCm39) |
L1298Q |
unknown |
Het |
| Myh2 |
A |
T |
11: 67,083,829 (GRCm39) |
I1536F |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,787 (GRCm39) |
I221T |
possibly damaging |
Het |
| Osmr |
G |
T |
15: 6,850,544 (GRCm39) |
D686E |
probably benign |
Het |
| Pah |
T |
A |
10: 87,414,831 (GRCm39) |
D394E |
probably benign |
Het |
| Pla1a |
T |
A |
16: 38,237,486 (GRCm39) |
S71C |
probably benign |
Het |
| Proc |
T |
A |
18: 32,266,486 (GRCm39) |
I114L |
probably benign |
Het |
| Psd |
T |
G |
19: 46,301,826 (GRCm39) |
|
probably null |
Het |
| Psmb6 |
C |
T |
11: 70,418,364 (GRCm39) |
Q226* |
probably null |
Het |
| Rnpepl1 |
A |
T |
1: 92,847,563 (GRCm39) |
N717Y |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,324,988 (GRCm39) |
S565P |
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,809,495 (GRCm39) |
S300R |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,323,257 (GRCm39) |
D483G |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,892,547 (GRCm39) |
I291T |
probably benign |
Het |
| Smg6 |
T |
A |
11: 74,944,600 (GRCm39) |
D116E |
possibly damaging |
Het |
| Srfbp1 |
G |
T |
18: 52,622,034 (GRCm39) |
S365I |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,835,872 (GRCm39) |
T236A |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,924,870 (GRCm39) |
V251A |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,118,332 (GRCm39) |
Y314C |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,179,048 (GRCm39) |
D112G |
possibly damaging |
Het |
| Tubb2b |
A |
G |
13: 34,311,528 (GRCm39) |
Y422H |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,305,872 (GRCm39) |
S332P |
possibly damaging |
Het |
| Vmn1r29 |
A |
C |
6: 58,284,412 (GRCm39) |
Q44P |
probably damaging |
Het |
| Vrtn |
T |
C |
12: 84,695,792 (GRCm39) |
S181P |
probably damaging |
Het |
| Wdr76 |
T |
A |
2: 121,364,712 (GRCm39) |
Y437N |
possibly damaging |
Het |
| Zc3h18 |
C |
A |
8: 123,135,025 (GRCm39) |
|
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,616,168 (GRCm39) |
D174E |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,244,601 (GRCm39) |
Y121* |
probably null |
Het |
| Zfyve19 |
T |
A |
2: 119,041,078 (GRCm39) |
L57Q |
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 |
|
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 |
|
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'- CTTGCGGTCTTCAAATTGGG -3'
(R):5'- GCCCAGTAGCTGATATGGAG -3'
Sequencing Primer
(F):5'- CAAATTGGGCTGGTGCTCCTC -3'
(R):5'- CTAGGCCTGGTGAGAGTACTAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation