Incidental Mutation 'R7951:Dido1'
ID |
649542 |
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 # |
R7951 (G1)
|
Quality Score |
214.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
180299757-180351792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 180312674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 1074
(C1074S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037764]
[ENSMUST00000087517]
[ENSMUST00000103056]
[ENSMUST00000103057]
|
AlphaFold |
Q8C9B9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037764
AA Change: C534S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000048315 Gene: ENSMUSG00000038914 AA Change: C534S
Domain | Start | End | E-Value | Type |
TFS2M
|
129 |
230 |
1.16e-45 |
SMART |
low complexity region
|
397 |
422 |
N/A |
INTRINSIC |
low complexity region
|
483 |
497 |
N/A |
INTRINSIC |
Pfam:SPOC
|
512 |
618 |
4.9e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000087517
AA Change: C1074S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000084794 Gene: ENSMUSG00000038914 AA Change: C1074S
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103056
AA Change: C1074S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000099345 Gene: ENSMUSG00000038914 AA Change: C1074S
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 |
4.7e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103057
AA Change: C1074S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000099346 Gene: ENSMUSG00000038914 AA Change: C1074S
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 |
4.7e-23 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
G |
A |
17: 85,004,957 (GRCm39) |
G575S |
probably damaging |
Het |
Acacb |
G |
T |
5: 114,326,401 (GRCm39) |
A256S |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,238,947 (GRCm39) |
D757G |
probably damaging |
Het |
Adgra3 |
A |
G |
5: 50,121,126 (GRCm39) |
V834A |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,711,689 (GRCm39) |
S1096P |
probably damaging |
Het |
Bmal2 |
T |
G |
6: 146,714,732 (GRCm39) |
L135R |
probably damaging |
Het |
Cct4 |
T |
C |
11: 22,940,868 (GRCm39) |
S39P |
probably benign |
Het |
Cep97 |
T |
C |
16: 55,725,820 (GRCm39) |
N689S |
probably benign |
Het |
Col11a1 |
T |
A |
3: 113,888,864 (GRCm39) |
D302E |
unknown |
Het |
D5Ertd579e |
C |
T |
5: 36,772,517 (GRCm39) |
S626N |
probably benign |
Het |
Dnah17 |
C |
T |
11: 118,009,592 (GRCm39) |
R660H |
possibly damaging |
Het |
Dnhd1 |
A |
T |
7: 105,327,211 (GRCm39) |
D720V |
probably damaging |
Het |
Dst |
T |
C |
1: 34,240,267 (GRCm39) |
M1872T |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,783,089 (GRCm39) |
I13M |
probably benign |
Het |
Fcho1 |
A |
G |
8: 72,164,920 (GRCm39) |
F454L |
probably benign |
Het |
Gad2 |
A |
G |
2: 22,513,499 (GRCm39) |
K43R |
probably damaging |
Het |
Galnt3 |
C |
T |
2: 65,928,186 (GRCm39) |
E237K |
probably benign |
Het |
Hey1 |
A |
G |
3: 8,729,932 (GRCm39) |
L175P |
possibly damaging |
Het |
Jade1 |
G |
A |
3: 41,546,190 (GRCm39) |
V72M |
probably damaging |
Het |
Klhl28 |
G |
A |
12: 65,003,875 (GRCm39) |
R213W |
probably damaging |
Het |
Kprp |
C |
T |
3: 92,731,637 (GRCm39) |
R471H |
unknown |
Het |
Lmtk3 |
A |
T |
7: 45,435,030 (GRCm39) |
M27L |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,374,933 (GRCm39) |
Y4508* |
probably null |
Het |
Lypd5 |
T |
C |
7: 24,051,060 (GRCm39) |
V57A |
probably damaging |
Het |
Mapk9 |
T |
G |
11: 49,754,422 (GRCm39) |
S58R |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,452,898 (GRCm39) |
K1661R |
probably damaging |
Het |
Myl2 |
C |
T |
5: 122,244,750 (GRCm39) |
A140V |
probably benign |
Het |
Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,381,542 (GRCm39) |
Y428H |
probably damaging |
Het |
Nt5c1a |
T |
C |
4: 123,105,978 (GRCm39) |
F144S |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,433,781 (GRCm39) |
R108Q |
probably benign |
Het |
Or4c100 |
A |
T |
2: 88,356,148 (GRCm39) |
T74S |
probably damaging |
Het |
Or5d14 |
A |
T |
2: 87,880,601 (GRCm39) |
Y122* |
probably null |
Het |
Or5d40 |
G |
T |
2: 88,015,616 (GRCm39) |
V132F |
probably damaging |
Het |
Pabpc4 |
T |
G |
4: 123,177,532 (GRCm39) |
V42G |
probably damaging |
Het |
Prrc2a |
A |
T |
17: 35,379,477 (GRCm39) |
N311K |
unknown |
Het |
Rcbtb2 |
A |
T |
14: 73,403,992 (GRCm39) |
R197* |
probably null |
Het |
Rfc4 |
A |
G |
16: 22,934,135 (GRCm39) |
I222T |
probably benign |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
Rufy1 |
T |
C |
11: 50,321,736 (GRCm39) |
D66G |
probably benign |
Het |
Rxfp1 |
A |
T |
3: 79,559,682 (GRCm39) |
C380S |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,358,145 (GRCm39) |
C699R |
probably damaging |
Het |
Syngap1 |
G |
T |
17: 27,185,942 (GRCm39) |
A1291S |
possibly damaging |
Het |
Tab1 |
C |
A |
15: 80,043,058 (GRCm39) |
N417K |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,763,738 (GRCm39) |
V772A |
possibly damaging |
Het |
Tmem25 |
T |
A |
9: 44,706,790 (GRCm39) |
K285I |
probably damaging |
Het |
Tnks2 |
A |
G |
19: 36,839,555 (GRCm39) |
N51D |
|
Het |
Trpm7 |
G |
A |
2: 126,655,188 (GRCm39) |
T1250I |
possibly damaging |
Het |
Trpv4 |
T |
C |
5: 114,760,871 (GRCm39) |
D820G |
probably benign |
Het |
Tsg101 |
T |
A |
7: 46,540,891 (GRCm39) |
I289L |
probably benign |
Het |
Tubgcp2 |
C |
A |
7: 139,587,893 (GRCm39) |
R244L |
possibly damaging |
Het |
Vmn1r173 |
C |
A |
7: 23,402,680 (GRCm39) |
T305K |
unknown |
Het |
Vmn1r53 |
A |
T |
6: 90,201,132 (GRCm39) |
I64K |
possibly damaging |
Het |
Zfp444 |
T |
C |
7: 6,191,185 (GRCm39) |
V122A |
probably benign |
Het |
Zfp599 |
A |
G |
9: 22,160,764 (GRCm39) |
L467P |
probably damaging |
Het |
Zic1 |
T |
C |
9: 91,244,654 (GRCm39) |
E335G |
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 |
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'- GCCATACTGCATAACCTGTTG -3'
(R):5'- TGCTCCCAAGTATGAAGTCATC -3'
Sequencing Primer
(F):5'- GGGCAGCATGAAAACACAC -3'
(R):5'- CCAGAAGGAGATACAACCCT -3'
|
Posted On |
2020-09-15 |