Mutagenetix > Incidental Mutation

Incidental Mutation 'R4892:Dido1'

377334

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

042497-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R4892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180299757-180351792 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 180316822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 662 (Q662*)

Ref Sequence

ENSEMBL: ENSMUSP00000099346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037764] [ENSMUST00000087517] [ENSMUST00000103056] [ENSMUST00000103057]

AlphaFold

Q8C9B9

Predicted Effect

probably null
Transcript: ENSMUST00000037764
AA Change: Q122*

SMART Domains

Protein: ENSMUSP00000048315
Gene: ENSMUSG00000038914
AA Change: Q122*

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 null
Transcript: ENSMUST00000087517
AA Change: Q662*

SMART Domains

Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: Q662*

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 null
Transcript: ENSMUST00000103056
AA Change: Q662*

SMART Domains

Protein: ENSMUSP00000099345
Gene: ENSMUSG00000038914
AA Change: Q662*

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 null
Transcript: ENSMUST00000103057
AA Change: Q662*

SMART Domains

Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914
AA Change: Q662*

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,236,431 (GRCm39)	T1128A	probably benign	Het
Apol11a	A	T	15: 77,401,190 (GRCm39)	K226*	probably null	Het
Atp4a	A	G	7: 30,411,899 (GRCm39)	M45V	probably benign	Het
Babam1	T	A	8: 71,855,696 (GRCm39)	M263K	probably benign	Het
Capn11	GACA	GA	17: 45,944,023 (GRCm39)		probably null	Het
Ccdc190	C	A	1: 169,757,678 (GRCm39)	L46I	possibly damaging	Het
Cep131	C	T	11: 119,958,883 (GRCm39)	R717H	probably damaging	Het
Cpt1c	A	G	7: 44,609,012 (GRCm39)	F770L	probably benign	Het
Dhx30	A	T	9: 109,914,924 (GRCm39)		probably null	Het
Dip2a	T	C	10: 76,116,593 (GRCm39)	E910G	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fmo3	T	A	1: 162,796,300 (GRCm39)	I91F	probably benign	Het
Gdap1	A	C	1: 17,230,218 (GRCm39)	D217A	possibly damaging	Het
Grm1	T	C	10: 10,595,331 (GRCm39)	S766G	possibly damaging	Het
Kat8	T	A	7: 127,514,710 (GRCm39)	I123N	possibly damaging	Het
Kcnt2	C	A	1: 140,440,763 (GRCm39)	S23*	probably null	Het
Krt73	G	A	15: 101,704,244 (GRCm39)	T432I	probably damaging	Het
Lgals9	T	A	11: 78,856,909 (GRCm39)	I223L	probably benign	Het
Mpo	T	A	11: 87,693,507 (GRCm39)	N48K	probably benign	Het
Myo9a	T	G	9: 59,731,525 (GRCm39)	H632Q	probably damaging	Het
Or2y1c	C	A	11: 49,361,043 (GRCm39)	Q22K	probably benign	Het
Or9s27	A	G	1: 92,516,643 (GRCm39)	N197S	probably benign	Het
Prelid2	A	G	18: 42,084,209 (GRCm39)	F11S	possibly damaging	Het
Setd1a	G	T	7: 127,377,696 (GRCm39)	V57L	probably damaging	Het
Sgip1	A	G	4: 102,823,431 (GRCm39)	D704G	probably damaging	Het
Spryd3	T	C	15: 102,026,537 (GRCm39)	E378G	probably benign	Het
Stk17b	A	T	1: 53,810,770 (GRCm39)	Y112N	probably damaging	Het
Syndig1	A	T	2: 149,741,811 (GRCm39)	K132N	probably damaging	Het
Tcf20	C	T	15: 82,738,400 (GRCm39)	R1017Q	possibly damaging	Het
Tenm3	T	A	8: 48,729,896 (GRCm39)	D1370V	probably damaging	Het
Tnrc6a	C	T	7: 122,769,134 (GRCm39)	T308I	probably damaging	Het
Ttc29	T	C	8: 79,060,274 (GRCm39)	V398A	probably damaging	Het
Ubr4	A	G	4: 139,155,828 (GRCm39)	T2218A	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
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
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'- GCTGTCATTGACTCTGAATAGAATG -3'
(R):5'- CCTTCAGGCTTCAAGGGTAC -3'

Sequencing Primer
(F):5'- TGAAAAGAGGGATTACATAAACCAG -3'
(R):5'- ATCCCCAAGAGGCCATGG -3'

Posted On

2016-03-17