Incidental Mutation 'R9648:Dido1'
| ID |
726848 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R9648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 180302468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Isoleucine
at position 1812
(R1812I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
| AlphaFold |
Q8C9B9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087517
AA Change: R1812I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: R1812I
| 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: 99.7%
- 20x: 99.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,609,172 (GRCm39) |
V798M |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,273,245 (GRCm39) |
L1171P |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,780,707 (GRCm39) |
|
probably null |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,943,720 (GRCm39) |
N2720K |
probably damaging |
Het |
| Ccpg1 |
T |
C |
9: 72,919,312 (GRCm39) |
L309S |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,234,903 (GRCm39) |
N2126S |
probably benign |
Het |
| Cln5 |
A |
G |
14: 103,313,734 (GRCm39) |
T329A |
probably benign |
Het |
| Cmas |
T |
A |
6: 142,716,935 (GRCm39) |
L276M |
probably benign |
Het |
| Cnbd1 |
A |
C |
4: 19,098,142 (GRCm39) |
|
probably null |
Het |
| Depdc1b |
A |
G |
13: 108,460,444 (GRCm39) |
N18S |
probably damaging |
Het |
| Dnajc2 |
G |
A |
5: 21,968,478 (GRCm39) |
T403M |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,230,455 (GRCm39) |
I120F |
probably damaging |
Het |
| Egfl6 |
C |
T |
X: 165,319,235 (GRCm39) |
V379I |
probably benign |
Het |
| Foxa2 |
T |
A |
2: 147,887,799 (GRCm39) |
K12M |
probably damaging |
Het |
| Fut7 |
T |
A |
2: 25,315,336 (GRCm39) |
V198E |
probably damaging |
Het |
| Gramd1b |
A |
T |
9: 40,244,793 (GRCm39) |
V205E |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,284,770 (GRCm39) |
N510Y |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,982,248 (GRCm39) |
I118V |
probably benign |
Het |
| Icam1 |
T |
C |
9: 20,937,697 (GRCm39) |
F245L |
probably damaging |
Het |
| Ifna16 |
C |
T |
4: 88,595,060 (GRCm39) |
A12T |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,333,587 (GRCm39) |
T231A |
probably benign |
Het |
| Klrb1a |
T |
C |
6: 128,586,816 (GRCm39) |
|
probably null |
Het |
| Mc3r |
T |
C |
2: 172,091,639 (GRCm39) |
L287P |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,478,757 (GRCm39) |
V404A |
probably benign |
Het |
| Myrf |
T |
A |
19: 10,188,010 (GRCm39) |
I896F |
possibly damaging |
Het |
| Nup205 |
T |
A |
6: 35,202,746 (GRCm39) |
Y1318N |
probably benign |
Het |
| Or2t47 |
A |
T |
11: 58,442,313 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,748 (GRCm39) |
S267T |
possibly damaging |
Het |
| Osbp |
T |
A |
19: 11,943,590 (GRCm39) |
W96R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,307,318 (GRCm39) |
L950P |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,190,089 (GRCm39) |
T2816A |
probably benign |
Het |
| Pde7a |
A |
G |
3: 19,310,966 (GRCm39) |
Y87H |
probably damaging |
Het |
| Pip4k2c |
T |
C |
10: 127,041,569 (GRCm39) |
H163R |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,174,900 (GRCm39) |
L846Q |
probably damaging |
Het |
| Plppr2 |
T |
A |
9: 21,852,379 (GRCm39) |
S113T |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,314,284 (GRCm39) |
L87Q |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,436,690 (GRCm39) |
S113P |
possibly damaging |
Het |
| Rexo1 |
T |
A |
10: 80,385,540 (GRCm39) |
H506L |
probably damaging |
Het |
| Rps12 |
T |
C |
10: 23,662,777 (GRCm39) |
I6V |
probably benign |
Het |
| Rsph3a |
T |
C |
17: 8,171,395 (GRCm39) |
M170T |
probably benign |
Het |
| Rsrc2 |
A |
G |
5: 123,877,688 (GRCm39) |
S156P |
unknown |
Het |
| Rtp3 |
T |
C |
9: 110,815,586 (GRCm39) |
T260A |
probably benign |
Het |
| Sall2 |
A |
G |
14: 52,551,224 (GRCm39) |
F657S |
probably damaging |
Het |
| Serpind1 |
T |
A |
16: 17,154,318 (GRCm39) |
N48K |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,188,484 (GRCm39) |
D95V |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,002,608 (GRCm39) |
C255R |
probably damaging |
Het |
| Slc6a12 |
C |
A |
6: 121,335,661 (GRCm39) |
Y330* |
probably null |
Het |
| Slco1b2 |
T |
C |
6: 141,602,655 (GRCm39) |
Y203H |
possibly damaging |
Het |
| Spdye4a |
C |
T |
5: 143,210,848 (GRCm39) |
R74K |
probably benign |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Stat1 |
A |
T |
1: 52,165,695 (GRCm39) |
D97V |
probably damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,585 (GRCm39) |
E418G |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,876 (GRCm39) |
D525G |
probably damaging |
Het |
| Tcstv7b |
C |
T |
13: 120,702,495 (GRCm39) |
P97L |
possibly damaging |
Het |
| Tlr2 |
A |
T |
3: 83,745,840 (GRCm39) |
L81Q |
probably damaging |
Het |
| Tmt1a3 |
C |
T |
15: 100,232,857 (GRCm39) |
A16V |
probably benign |
Het |
| Trim50 |
T |
A |
5: 135,395,475 (GRCm39) |
I277N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,619,806 (GRCm39) |
Q15954L |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,960,494 (GRCm39) |
K592R |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,346,599 (GRCm39) |
I2947V |
probably benign |
Het |
| Zan |
A |
C |
5: 137,405,992 (GRCm39) |
F3746V |
unknown |
Het |
| Zfp418 |
G |
A |
7: 7,185,171 (GRCm39) |
S378N |
probably benign |
Het |
| Zfp518b |
C |
G |
5: 38,830,240 (GRCm39) |
Q588H |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,204,212 (GRCm39) |
R83K |
possibly damaging |
Het |
| Znrf3 |
G |
A |
11: 5,231,915 (GRCm39) |
R437C |
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 |
|
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 |
|
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'- ACGGAGTGTCCTGGAATTCC -3'
(R):5'- AGGCCTGGTGAGAGTACTACTTC -3'
Sequencing Primer
(F):5'- GGAGTGTCCTGGAATTCCCTTTTC -3'
(R):5'- TGGTGAGAGTACTACTTCATTCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation