Incidental Mutation 'R5943:Dido1'
| ID |
460394 |
| 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 |
044135-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R5943 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 180303675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1410
(S1410T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
| AlphaFold |
Q8C9B9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087517
AA Change: S1410T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: S1410T
| 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: 97.7%
- 20x: 93.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
A |
17: 45,828,637 (GRCm39) |
Q671K |
probably benign |
Het |
| Acaa2 |
A |
G |
18: 74,925,453 (GRCm39) |
H72R |
probably damaging |
Het |
| Acad8 |
A |
G |
9: 26,910,740 (GRCm39) |
L18P |
probably benign |
Het |
| Acap3 |
T |
C |
4: 155,983,879 (GRCm39) |
V115A |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,880,767 (GRCm39) |
T503A |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,111,337 (GRCm39) |
F876S |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,534,985 (GRCm39) |
E5760G |
probably damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,482,707 (GRCm39) |
I1631K |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,339,526 (GRCm39) |
T457A |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,306,561 (GRCm39) |
*1160R |
probably null |
Het |
| Cdc6 |
T |
C |
11: 98,811,589 (GRCm39) |
S517P |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,392,166 (GRCm39) |
D555E |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,424,420 (GRCm39) |
T205A |
probably benign |
Het |
| Clcn1 |
T |
A |
6: 42,269,900 (GRCm39) |
I241N |
probably damaging |
Het |
| Clrn2 |
A |
T |
5: 45,621,061 (GRCm39) |
I152F |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,502,737 (GRCm39) |
I349T |
unknown |
Het |
| Coq8b |
T |
A |
7: 26,933,428 (GRCm39) |
F96L |
probably damaging |
Het |
| Cp |
A |
T |
3: 20,018,470 (GRCm39) |
N58I |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,263,718 (GRCm39) |
|
probably null |
Het |
| Dhrs3 |
A |
T |
4: 144,646,546 (GRCm39) |
M199L |
possibly damaging |
Het |
| Dnase1l2 |
C |
T |
17: 24,661,721 (GRCm39) |
A13T |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,163,916 (GRCm39) |
R861Q |
probably benign |
Het |
| Eya2 |
A |
G |
2: 165,566,609 (GRCm39) |
H220R |
probably damaging |
Het |
| Fas |
T |
G |
19: 34,297,987 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,246,948 (GRCm39) |
K295* |
probably null |
Het |
| Gldn |
T |
G |
9: 54,245,721 (GRCm39) |
I424R |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,269,376 (GRCm39) |
V693A |
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,563,852 (GRCm39) |
T269S |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,460,357 (GRCm39) |
T2209S |
probably benign |
Het |
| Hoxd3 |
A |
G |
2: 74,577,173 (GRCm39) |
N351S |
probably benign |
Het |
| Itpkc |
T |
A |
7: 26,912,404 (GRCm39) |
N581I |
possibly damaging |
Het |
| Kank3 |
G |
T |
17: 34,037,375 (GRCm39) |
E226D |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,788 (GRCm39) |
S7P |
unknown |
Het |
| Lrriq3 |
A |
G |
3: 154,869,587 (GRCm39) |
Y304C |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,678,330 (GRCm39) |
S653P |
probably damaging |
Het |
| Mri1 |
A |
T |
8: 84,980,948 (GRCm39) |
L194* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,537,302 (GRCm39) |
E138G |
probably benign |
Het |
| Myo3b |
G |
A |
2: 70,117,285 (GRCm39) |
R906Q |
probably benign |
Het |
| Nckipsd |
C |
T |
9: 108,689,435 (GRCm39) |
P199S |
possibly damaging |
Het |
| Or52n5 |
T |
A |
7: 104,587,850 (GRCm39) |
I39N |
possibly damaging |
Het |
| Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
| Pacsin1 |
T |
C |
17: 27,925,045 (GRCm39) |
L253P |
probably damaging |
Het |
| Pcca |
T |
A |
14: 122,896,188 (GRCm39) |
I268N |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,949,565 (GRCm39) |
D327G |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,626,232 (GRCm39) |
H1146R |
probably damaging |
Het |
| Pnma8b |
T |
C |
7: 16,680,362 (GRCm39) |
S449P |
probably benign |
Het |
| Psmb9 |
T |
C |
17: 34,403,265 (GRCm39) |
E61G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,721,203 (GRCm39) |
Y101H |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,471,213 (GRCm39) |
I1044T |
probably damaging |
Het |
| Rnf43 |
G |
A |
11: 87,622,561 (GRCm39) |
R554H |
probably damaging |
Het |
| Sp5 |
A |
T |
2: 70,305,659 (GRCm39) |
Q17L |
probably null |
Het |
| Spmip1 |
T |
A |
6: 29,471,908 (GRCm39) |
L128Q |
possibly damaging |
Het |
| Strn |
C |
A |
17: 78,977,276 (GRCm39) |
V211F |
probably damaging |
Het |
| Sult3a1 |
A |
G |
10: 33,742,637 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim14 |
T |
C |
4: 46,522,136 (GRCm39) |
I180M |
probably benign |
Het |
| Tsnax |
C |
A |
8: 125,751,278 (GRCm39) |
S90* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,798,780 (GRCm39) |
M498T |
probably benign |
Het |
| Vmn1r198 |
T |
A |
13: 22,539,367 (GRCm39) |
Y195* |
probably null |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,199 (GRCm39) |
T112A |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,443,137 (GRCm39) |
N32S |
possibly damaging |
Het |
| Yme1l1 |
G |
T |
2: 23,058,342 (GRCm39) |
R158L |
probably damaging |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,483 (GRCm39) |
H47N |
probably damaging |
Het |
| Zc3h10 |
C |
A |
10: 128,381,396 (GRCm39) |
|
probably benign |
Het |
| Zfp825 |
T |
C |
13: 74,629,007 (GRCm39) |
R170G |
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 |
|
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'- GTCGGAGAGCTTCTTCTTGC -3'
(R):5'- TCAGCAGCTCCTTTGTTGG -3'
Sequencing Primer
(F):5'- AACATTTTCTGCTGCTCTACCAG -3'
(R):5'- GGATCCAATTGTTCAACAGTTTGGTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation