Mutagenetix > Incidental Mutation

Incidental Mutation 'R5672:Dido1'

442662

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

043174-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180299757-180351792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180313696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 319 (S319P)

Ref Sequence

ENSEMBL: ENSMUSP00000048315 (fasta)

Gene Model

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

AlphaFold

Q8C9B9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037764
AA Change: S319P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048315
Gene: ENSMUSG00000038914
AA Change: S319P

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

possibly damaging
Transcript: ENSMUST00000087517
AA Change: S859P

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: S859P

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

possibly damaging
Transcript: ENSMUST00000103056
AA Change: S859P

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099345
Gene: ENSMUSG00000038914
AA Change: S859P

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

possibly damaging
Transcript: ENSMUST00000103057
AA Change: S859P

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914
AA Change: S859P

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,383 (GRCm39)	N181S	possibly damaging	Het
Abcf3	A	T	16: 20,368,002 (GRCm39)	Q74L	probably benign	Het
Ankrd13c	T	C	3: 157,666,664 (GRCm39)		probably null	Het
Bub1	A	G	2: 127,646,800 (GRCm39)	F827L	possibly damaging	Het
Cfap68	T	C	9: 50,675,227 (GRCm39)	T67A	probably benign	Het
Cyp2c55	A	G	19: 39,023,990 (GRCm39)	I355V	probably benign	Het
Efna5	A	T	17: 63,188,025 (GRCm39)	V34D	probably damaging	Het
Fam131a	G	T	16: 20,518,389 (GRCm39)	E88D	probably damaging	Het
Fsip2	A	T	2: 82,817,838 (GRCm39)	R4524*	probably null	Het
Gm6899	C	T	11: 26,543,484 (GRCm39)		probably benign	Het
Iqcg	C	T	16: 32,839,878 (GRCm39)	R356Q	probably damaging	Het
Itgae	T	A	11: 73,036,377 (GRCm39)	I1105N	possibly damaging	Het
Klb	T	C	5: 65,537,292 (GRCm39)	I874T	possibly damaging	Het
Klc3	T	C	7: 19,130,256 (GRCm39)	Y307C	probably damaging	Het
Lrp1b	T	A	2: 41,231,771 (GRCm39)	H378L	probably benign	Het
Mxd4	G	A	5: 34,335,044 (GRCm39)	R114C	probably damaging	Het
Nrdc	A	T	4: 108,895,242 (GRCm39)	R241*	probably null	Het
Ofcc1	G	A	13: 40,433,905 (GRCm39)	H67Y	probably damaging	Het
Or10ak9	A	G	4: 118,726,379 (GRCm39)	T134A	possibly damaging	Het
Or5p5	A	G	7: 107,413,844 (GRCm39)	T18A	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Pard3b	G	T	1: 62,049,625 (GRCm39)	A128S	probably benign	Het
Plat	T	C	8: 23,263,664 (GRCm39)	Y188H	probably benign	Het
Pop1	A	G	15: 34,530,325 (GRCm39)	K908E	possibly damaging	Het
Pten	A	G	19: 32,735,866 (GRCm39)	I8V	probably benign	Het
Pwwp2a	C	T	11: 43,596,968 (GRCm39)	A436V	probably damaging	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sdk1	T	C	5: 142,173,900 (GRCm39)	C2023R	possibly damaging	Het
Serpina1d	A	C	12: 103,730,101 (GRCm39)	D360E	possibly damaging	Het
Serpinb9b	A	G	13: 33,223,582 (GRCm39)	D258G	probably benign	Het
Smgc	G	A	15: 91,726,108 (GRCm39)	S18N	possibly damaging	Het
Snx27	A	T	3: 94,410,157 (GRCm39)		probably null	Het
Spem1	T	G	11: 69,712,263 (GRCm39)	K134Q	probably damaging	Het
Srgap3	T	A	6: 112,752,522 (GRCm39)	M321L	probably benign	Het
Tanc1	T	C	2: 59,602,697 (GRCm39)	C163R	possibly damaging	Het
Ube2ql1	A	T	13: 69,887,446 (GRCm39)	L5H	unknown	Het
Ubn2	T	C	6: 38,438,462 (GRCm39)	I225T	probably damaging	Het
Vmn1r181	A	C	7: 23,683,741 (GRCm39)	T69P	probably damaging	Het
Vmn2r110	A	G	17: 20,816,494 (GRCm39)	F10L	probably benign	Het
Yeats2	T	C	16: 19,980,779 (GRCm39)	M236T	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
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'- CAGACATGGTGACTGTGGTGAC -3'
(R):5'- GGGAAAATTGCTCTTCTCACTAG -3'

Sequencing Primer
(F):5'- AAGACTAGATGTACTCTCCGGGTC -3'
(R):5'- TCACTAGCTGTGTTCCAGGCAAG -3'

Posted On

2016-11-09