Incidental Mutation 'R6836:Dido1'
| ID |
534552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dido1
|
| Ensembl Gene |
ENSMUSG00000038914 |
| Gene Name |
death inducer-obliterator 1 |
| Synonyms |
D130048F08Rik, Datf1, 6720461J16Rik, dido, DIO-1, C130092D22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6836 (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 G
at 180304100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1268
(V1268A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087517]
|
| AlphaFold |
Q8C9B9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087517
AA Change: V1268A
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: V1268A
| 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 |
|
| Meta Mutation Damage Score |
0.0791 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
C |
2: 26,971,718 (GRCm39) |
M1T |
probably null |
Het |
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,077,331 (GRCm39) |
Y473C |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,080,715 (GRCm39) |
R209G |
possibly damaging |
Het |
| Asb5 |
A |
G |
8: 55,038,106 (GRCm39) |
M210V |
probably benign |
Het |
| Atp2c2 |
T |
A |
8: 120,461,154 (GRCm39) |
L249Q |
probably damaging |
Het |
| AU018091 |
T |
G |
7: 3,213,986 (GRCm39) |
D77A |
probably damaging |
Het |
| Bahcc1 |
A |
T |
11: 120,162,583 (GRCm39) |
K294* |
probably null |
Het |
| Baz2b |
C |
T |
2: 59,747,769 (GRCm39) |
R1298Q |
probably damaging |
Het |
| Bivm |
T |
A |
1: 44,182,296 (GRCm39) |
N501K |
possibly damaging |
Het |
| Bpifb5 |
T |
A |
2: 154,069,985 (GRCm39) |
I145N |
probably benign |
Het |
| Casq2 |
A |
T |
3: 101,994,076 (GRCm39) |
N41I |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,345,833 (GRCm39) |
L993P |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,798,233 (GRCm39) |
I81F |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,442 (GRCm39) |
D50G |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,512,144 (GRCm39) |
I91F |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,997,886 (GRCm39) |
H66L |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,163,467 (GRCm39) |
T321A |
probably benign |
Het |
| E030030I06Rik |
A |
C |
10: 22,024,391 (GRCm39) |
V174G |
probably damaging |
Het |
| Gm20730 |
G |
T |
6: 43,058,767 (GRCm39) |
|
probably null |
Het |
| Gm36176 |
T |
C |
10: 77,682,976 (GRCm39) |
|
probably benign |
Het |
| Gper1 |
T |
A |
5: 139,412,435 (GRCm39) |
M260K |
probably damaging |
Het |
| Igfbp2 |
T |
C |
1: 72,888,817 (GRCm39) |
L89P |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,830,974 (GRCm39) |
N200S |
probably damaging |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Klhl20 |
T |
A |
1: 160,932,976 (GRCm39) |
E277D |
probably benign |
Het |
| Lingo1 |
T |
C |
9: 56,527,056 (GRCm39) |
Y517C |
probably damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,992,527 (GRCm39) |
E82K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,573,955 (GRCm39) |
V1275D |
possibly damaging |
Het |
| Ncan |
C |
T |
8: 70,552,965 (GRCm39) |
S1089N |
possibly damaging |
Het |
| Notch4 |
C |
T |
17: 34,805,074 (GRCm39) |
T1643I |
probably damaging |
Het |
| Or13a25 |
A |
C |
7: 140,248,093 (GRCm39) |
I298L |
possibly damaging |
Het |
| Or1i2 |
A |
G |
10: 78,448,424 (GRCm39) |
L17P |
probably damaging |
Het |
| Or2y15 |
A |
T |
11: 49,350,904 (GRCm39) |
T133S |
possibly damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,683 (GRCm39) |
C177R |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,015 (GRCm39) |
V241A |
probably benign |
Het |
| Phf11b |
T |
A |
14: 59,565,572 (GRCm39) |
T102S |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,800,233 (GRCm39) |
V2998E |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,801,629 (GRCm39) |
S352G |
probably benign |
Het |
| Ptprh |
C |
T |
7: 4,554,134 (GRCm39) |
V778M |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,030,664 (GRCm39) |
Q1008* |
probably null |
Het |
| Ralgapa1 |
A |
T |
12: 55,651,058 (GRCm39) |
|
probably null |
Het |
| Rbm20 |
G |
A |
19: 53,802,500 (GRCm39) |
G336E |
probably damaging |
Het |
| Sdsl |
T |
C |
5: 120,600,167 (GRCm39) |
I77V |
probably benign |
Het |
| Serpina3b |
G |
A |
12: 104,100,341 (GRCm39) |
E308K |
probably benign |
Het |
| Sfrp5 |
G |
A |
19: 42,190,149 (GRCm39) |
T101I |
probably damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,205,835 (GRCm39) |
V451I |
probably benign |
Het |
| Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
| Spg11 |
C |
T |
2: 121,890,016 (GRCm39) |
A2109T |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,530,324 (GRCm39) |
R2194C |
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,097,123 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
A |
17: 3,464,655 (GRCm39) |
I128N |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
G |
1: 150,312,424 (GRCm39) |
|
probably null |
Het |
| Traf3ip1 |
T |
C |
1: 91,448,722 (GRCm39) |
I456T |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,728,572 (GRCm39) |
D892E |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,727,156 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,630 (GRCm39) |
I239F |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,100,865 (GRCm39) |
V251M |
probably damaging |
Het |
| Xylb |
T |
A |
9: 119,220,820 (GRCm39) |
L531H |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,434 (GRCm39) |
C383S |
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 |
|
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'- AGATTCTTTTCCAGACGGCTC -3'
(R):5'- TTCAAGTGCTGGCGAGTTAG -3'
Sequencing Primer
(F):5'- TCCAGACGGCTCAAATGATTTC -3'
(R):5'- ATGAGAAGCGGACTCGACTCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation