Incidental Mutation 'R7363:Dido1'
| ID |
571456 |
| 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 |
045448-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R7363 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 180304310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 1198
(S1198*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
| AlphaFold |
Q8C9B9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087517
AA Change: S1198*
|
| SMART Domains |
Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: S1198*
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,782 (GRCm39) |
N190I |
probably damaging |
Het |
| Ablim1 |
G |
T |
19: 57,204,173 (GRCm39) |
L73I |
probably benign |
Het |
| Adamts4 |
A |
T |
1: 171,086,608 (GRCm39) |
Q800L |
probably benign |
Het |
| Atm |
A |
T |
9: 53,376,598 (GRCm39) |
I2014N |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,062,061 (GRCm39) |
C12R |
possibly damaging |
Het |
| B3galnt1 |
A |
T |
3: 69,483,157 (GRCm39) |
Y35N |
probably damaging |
Het |
| Bnc2 |
A |
T |
4: 84,210,308 (GRCm39) |
M687K |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,320,939 (GRCm39) |
Y917C |
probably damaging |
Het |
| Cemip2 |
T |
C |
19: 21,833,575 (GRCm39) |
F1338L |
probably benign |
Het |
| Ces2e |
A |
G |
8: 105,659,632 (GRCm39) |
|
probably null |
Het |
| Cldn23 |
A |
G |
8: 36,292,659 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
G |
T |
9: 10,172,021 (GRCm39) |
S54R |
probably benign |
Het |
| Cyria |
T |
A |
12: 12,390,665 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,445,766 (GRCm39) |
M776V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,518,089 (GRCm39) |
|
probably null |
Het |
| Dnttip1 |
GGGCCGGC |
GGGC |
2: 164,599,605 (GRCm39) |
|
probably null |
Het |
| Dusp28 |
A |
T |
1: 92,834,861 (GRCm39) |
T29S |
probably benign |
Het |
| Erich1 |
A |
T |
8: 14,083,688 (GRCm39) |
S127R |
probably benign |
Het |
| Fam151a |
T |
A |
4: 106,602,681 (GRCm39) |
L200H |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,263,057 (GRCm39) |
H207Q |
probably damaging |
Het |
| Fgf22 |
A |
G |
10: 79,592,676 (GRCm39) |
E116G |
probably benign |
Het |
| Gapvd1 |
C |
A |
2: 34,602,207 (GRCm39) |
V647F |
probably benign |
Het |
| Garin4 |
A |
T |
1: 190,895,910 (GRCm39) |
S244R |
probably damaging |
Het |
| Gja4 |
T |
A |
4: 127,206,487 (GRCm39) |
Y92F |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,327,600 (GRCm39) |
R288W |
probably damaging |
Het |
| Hira |
G |
T |
16: 18,716,532 (GRCm39) |
R99L |
possibly damaging |
Het |
| Ighv16-1 |
C |
T |
12: 114,032,721 (GRCm39) |
G27D |
probably damaging |
Het |
| Igkv1-133 |
C |
T |
6: 67,702,395 (GRCm39) |
P38S |
probably benign |
Het |
| Igkv4-59 |
T |
C |
6: 69,415,396 (GRCm39) |
Y53C |
probably damaging |
Het |
| Il23a |
T |
C |
10: 128,133,020 (GRCm39) |
E113G |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,584,589 (GRCm39) |
V188A |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,216,850 (GRCm39) |
K155E |
unknown |
Het |
| Lancl2 |
T |
G |
6: 57,699,664 (GRCm39) |
C169G |
probably benign |
Het |
| Lrrc26 |
A |
G |
2: 25,180,581 (GRCm39) |
D194G |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,050,842 (GRCm39) |
A545V |
probably benign |
Het |
| Lrtm1 |
T |
C |
14: 28,743,850 (GRCm39) |
F106S |
probably damaging |
Het |
| Lypd2 |
A |
T |
15: 74,604,848 (GRCm39) |
M49K |
probably damaging |
Het |
| Mbd1 |
A |
C |
18: 74,406,357 (GRCm39) |
D63A |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,691,729 (GRCm39) |
F990L |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,256,577 (GRCm39) |
E196G |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,705,874 (GRCm39) |
T2007A |
probably benign |
Het |
| Nckap1 |
G |
A |
2: 80,370,512 (GRCm39) |
R393C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,209,508 (GRCm39) |
T1605M |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,741 (GRCm39) |
D70G |
probably damaging |
Het |
| Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
A |
7: 101,875,467 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
A |
G |
13: 6,619,387 (GRCm39) |
S741G |
probably benign |
Het |
| Plcd4 |
A |
T |
1: 74,590,231 (GRCm39) |
S155C |
probably null |
Het |
| Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
| Ppp2r5c |
G |
A |
12: 110,489,041 (GRCm39) |
A71T |
probably benign |
Het |
| Prdm6 |
T |
A |
18: 53,598,199 (GRCm39) |
I187N |
possibly damaging |
Het |
| Pxk |
A |
G |
14: 8,152,118 (GRCm38) |
Q478R |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,394,914 (GRCm39) |
Y718C |
probably damaging |
Het |
| Ring1 |
G |
T |
17: 34,243,336 (GRCm39) |
T2K |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,173,897 (GRCm39) |
S2022G |
probably benign |
Het |
| Sec61a1 |
C |
A |
6: 88,492,533 (GRCm39) |
V32F |
probably benign |
Het |
| Sv2b |
G |
A |
7: 74,797,402 (GRCm39) |
P331S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,090,970 (GRCm39) |
S795G |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,484,023 (GRCm39) |
E309G |
probably damaging |
Het |
| Tpp2 |
T |
G |
1: 44,024,582 (GRCm39) |
S987A |
probably benign |
Het |
| Trim75 |
G |
C |
8: 65,435,539 (GRCm39) |
H304D |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,272,231 (GRCm39) |
D447Y |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,936,751 (GRCm39) |
K697E |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,339,909 (GRCm39) |
H22L |
probably benign |
Het |
| Vmn2r4 |
G |
A |
3: 64,314,432 (GRCm39) |
S183F |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,256,147 (GRCm39) |
Y721H |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,569 (GRCm39) |
P190L |
possibly damaging |
Het |
| Zcchc4 |
A |
T |
5: 52,942,510 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,639,456 (GRCm39) |
R1264G |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,616,413 (GRCm39) |
N54K |
probably damaging |
Het |
| Zkscan3 |
C |
T |
13: 21,571,992 (GRCm39) |
G547S |
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 |
|
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'- TTTGGAAGTGGCAGCAGTAAC -3'
(R):5'- AAACGTGGCACTTTACTGCAG -3'
Sequencing Primer
(F):5'- CCTGGCTTGAGGGATGACAG -3'
(R):5'- GTGGCACTTTACTGCAGAATCTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation