Incidental Mutation 'R8331:Dido1'
ID |
644343 |
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 |
067860-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R8331 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 180302242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1887
(D1887E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
AlphaFold |
Q8C9B9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087517
AA Change: D1887E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000084794 Gene: ENSMUSG00000038914 AA Change: D1887E
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
C |
A |
12: 84,650,726 (GRCm39) |
A545S |
probably damaging |
Het |
Alox12e |
A |
T |
11: 70,211,923 (GRCm39) |
S195R |
probably benign |
Het |
Angpt1 |
T |
C |
15: 42,539,653 (GRCm39) |
R69G |
probably damaging |
Het |
Apob |
A |
G |
12: 8,051,882 (GRCm39) |
Q1149R |
probably benign |
Het |
As3mt |
A |
T |
19: 46,697,445 (GRCm39) |
E71V |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,517,217 (GRCm39) |
V372E |
probably benign |
Het |
Bmal1 |
C |
A |
7: 112,912,703 (GRCm39) |
N586K |
probably benign |
Het |
Bmp2k |
T |
C |
5: 97,192,928 (GRCm39) |
F259S |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,607,290 (GRCm39) |
T1364A |
|
Het |
Casp7 |
T |
A |
19: 56,429,397 (GRCm39) |
I261N |
probably damaging |
Het |
Ccdc154 |
A |
G |
17: 25,386,927 (GRCm39) |
K319E |
probably benign |
Het |
Cdc42bpg |
C |
A |
19: 6,363,477 (GRCm39) |
L446I |
probably benign |
Het |
Cdkl3 |
A |
T |
11: 51,917,704 (GRCm39) |
T334S |
probably benign |
Het |
Cep250 |
T |
A |
2: 155,832,173 (GRCm39) |
L1366Q |
probably damaging |
Het |
Chp2 |
G |
A |
7: 121,821,133 (GRCm39) |
D165N |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,406,545 (GRCm39) |
M782K |
probably damaging |
Het |
Col20a1 |
T |
A |
2: 180,638,559 (GRCm39) |
I433N |
possibly damaging |
Het |
Col4a2 |
A |
T |
8: 11,463,985 (GRCm39) |
R320* |
probably null |
Het |
Ctsc |
A |
G |
7: 87,946,328 (GRCm39) |
H119R |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,345,053 (GRCm39) |
H2121R |
probably damaging |
Het |
Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
D630045J12Rik |
T |
C |
6: 38,125,409 (GRCm39) |
E1535G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,001,983 (GRCm39) |
E3903G |
probably benign |
Het |
Eif4a3l2 |
T |
C |
6: 116,529,323 (GRCm39) |
I400T |
probably damaging |
Het |
Ep300 |
T |
C |
15: 81,485,411 (GRCm39) |
S133P |
unknown |
Het |
Ercc3 |
T |
C |
18: 32,373,871 (GRCm39) |
S73P |
probably damaging |
Het |
Fis1 |
T |
C |
5: 136,991,987 (GRCm39) |
|
probably null |
Het |
Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
Gm17087 |
A |
G |
17: 8,785,539 (GRCm39) |
W55R |
probably damaging |
Het |
Gm3404 |
A |
T |
5: 146,462,759 (GRCm39) |
S41C |
probably damaging |
Het |
Greb1l |
T |
C |
18: 10,458,706 (GRCm39) |
S96P |
possibly damaging |
Het |
Irf3 |
C |
T |
7: 44,650,383 (GRCm39) |
P300S |
probably damaging |
Het |
Klk1b4 |
G |
A |
7: 43,860,999 (GRCm39) |
C214Y |
probably damaging |
Het |
Krtap5-3 |
T |
A |
7: 141,755,563 (GRCm39) |
C133* |
probably null |
Het |
Map3k12 |
T |
A |
15: 102,410,766 (GRCm39) |
R448* |
probably null |
Het |
Map4k2 |
C |
G |
19: 6,402,853 (GRCm39) |
A738G |
probably damaging |
Het |
Matn2 |
A |
T |
15: 34,428,827 (GRCm39) |
K730N |
probably damaging |
Het |
Mpp3 |
C |
T |
11: 101,902,541 (GRCm39) |
|
probably null |
Het |
N4bp2 |
T |
A |
5: 65,964,943 (GRCm39) |
D997E |
probably damaging |
Het |
Nav2 |
C |
T |
7: 49,102,371 (GRCm39) |
P390S |
probably benign |
Het |
Nme8 |
A |
G |
13: 19,843,036 (GRCm39) |
S380P |
probably damaging |
Het |
Nup210 |
C |
T |
6: 91,030,648 (GRCm39) |
D878N |
possibly damaging |
Het |
Odad3 |
C |
T |
9: 21,903,007 (GRCm39) |
R441H |
probably damaging |
Het |
Or4k49 |
A |
G |
2: 111,494,727 (GRCm39) |
D52G |
possibly damaging |
Het |
Or8c18 |
A |
G |
9: 38,203,381 (GRCm39) |
I47V |
possibly damaging |
Het |
Osbpl9 |
C |
A |
4: 108,923,378 (GRCm39) |
W427L |
probably damaging |
Het |
Pcdhb12 |
T |
C |
18: 37,570,342 (GRCm39) |
V496A |
probably damaging |
Het |
Pdlim1 |
G |
A |
19: 40,218,995 (GRCm39) |
T212I |
possibly damaging |
Het |
Phc2 |
C |
T |
4: 128,605,987 (GRCm39) |
Q270* |
probably null |
Het |
Pi4kb |
G |
A |
3: 94,903,995 (GRCm39) |
R527Q |
probably null |
Het |
Platr25 |
G |
T |
13: 62,848,717 (GRCm39) |
H48Q |
probably benign |
Het |
Polr1a |
C |
T |
6: 71,953,163 (GRCm39) |
T1577M |
probably damaging |
Het |
Ptprf |
C |
T |
4: 118,083,263 (GRCm39) |
V915M |
probably benign |
Het |
Ptprh |
A |
G |
7: 4,552,480 (GRCm39) |
L928S |
probably damaging |
Het |
Qrsl1 |
T |
C |
10: 43,752,521 (GRCm39) |
N434S |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,140,545 (GRCm39) |
L246H |
probably damaging |
Het |
Steap3 |
A |
T |
1: 120,169,218 (GRCm39) |
C360S |
possibly damaging |
Het |
Stk10 |
A |
G |
11: 32,538,928 (GRCm39) |
T256A |
|
Het |
Tatdn3 |
A |
T |
1: 190,778,408 (GRCm39) |
L261Q |
probably damaging |
Het |
Thnsl1 |
T |
A |
2: 21,216,985 (GRCm39) |
F246L |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,471,157 (GRCm39) |
V487A |
|
Het |
Tmem41a |
A |
C |
16: 21,766,116 (GRCm39) |
|
probably null |
Het |
Togaram2 |
G |
A |
17: 72,036,221 (GRCm39) |
V924M |
probably damaging |
Het |
Trabd |
T |
C |
15: 88,969,131 (GRCm39) |
F185S |
probably damaging |
Het |
Traf1 |
T |
C |
2: 34,838,370 (GRCm39) |
D156G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,710,482 (GRCm39) |
E8513G |
unknown |
Het |
Txlna |
C |
A |
4: 129,533,279 (GRCm39) |
S83I |
probably damaging |
Het |
Utrn |
T |
G |
10: 12,490,363 (GRCm39) |
T6P |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,038,887 (GRCm39) |
S821T |
probably benign |
Het |
Wdhd1 |
A |
T |
14: 47,509,702 (GRCm39) |
|
probably null |
Het |
Wnk1 |
T |
C |
6: 119,930,794 (GRCm39) |
I917V |
probably benign |
Het |
Wscd2 |
A |
G |
5: 113,688,996 (GRCm39) |
M1V |
probably null |
Het |
Xkr6 |
A |
G |
14: 64,056,392 (GRCm39) |
H357R |
unknown |
Het |
Zfhx2 |
G |
T |
14: 55,309,444 (GRCm39) |
T885K |
probably benign |
Het |
Zfp583 |
C |
T |
7: 6,320,554 (GRCm39) |
E153K |
probably benign |
Het |
Zmynd11 |
A |
G |
13: 9,745,190 (GRCm39) |
M243T |
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 |
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 |
|
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'- TTCAAACTGGCCAGGGTGAG -3'
(R):5'- TTATTCTCTGGGCAACATGGG -3'
Sequencing Primer
(F):5'- CCCGGGAATTTTCAAACTGACTAGG -3'
(R):5'- ACATGGGCCACCTCCCTATG -3'
|
Posted On |
2020-09-02 |