Mutagenetix > Incidental Mutation

Incidental Mutation 'R7629:Dido1'

589532

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) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180299757-180351792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180303266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1546 (N1546S)

Ref Sequence

ENSEMBL: ENSMUSP00000084794 (fasta)

Gene Model

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

AlphaFold

Q8C9B9

Predicted Effect

probably benign
Transcript: ENSMUST00000087517
AA Change: N1546S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: N1546S

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: 99.8%
20x: 99.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,504,293 (GRCm39)	T168I	probably benign	Het
Abtb2	T	A	2: 103,513,838 (GRCm39)		probably null	Het
Ankrd10	A	T	8: 11,665,769 (GRCm39)	V277E	probably benign	Het
Ankrd28	C	T	14: 31,437,221 (GRCm39)	V615I	probably benign	Het
Aqr	G	A	2: 113,945,074 (GRCm39)	P1079L	probably damaging	Het
Brox	G	A	1: 183,074,068 (GRCm39)	A60V	probably damaging	Het
Copg1	T	C	6: 87,871,151 (GRCm39)	V289A	possibly damaging	Het
Cplane1	C	T	15: 8,256,551 (GRCm39)	Q2004*	probably null	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,992,337 (GRCm39)	I361N	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,887,374 (GRCm39)	D88E	probably benign	Het
Flywch1	A	G	17: 23,974,744 (GRCm39)	M632T	probably benign	Het
Henmt1	A	G	3: 108,865,913 (GRCm39)	T213A	probably benign	Het
Itga9	T	C	9: 118,527,514 (GRCm39)	V555A	probably benign	Het
Katnip	T	C	7: 125,394,422 (GRCm39)	L192P	probably damaging	Het
Kif13b	C	T	14: 65,016,784 (GRCm39)	R1317*	probably null	Het
Kndc1	A	T	7: 139,475,176 (GRCm39)	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675 (GRCm39)	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,509,283 (GRCm39)	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,347,310 (GRCm39)		probably null	Het
Mgat4c	G	A	10: 102,224,931 (GRCm39)	V382I	probably benign	Het
Muc16	T	C	9: 18,478,081 (GRCm39)	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,760,325 (GRCm39)		probably null	Het
Neb	T	C	2: 52,163,973 (GRCm39)	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,198,560 (GRCm39)	V75A	possibly damaging	Het
Or4k35	C	T	2: 111,100,221 (GRCm39)	V164I	probably benign	Het
Paf1	T	C	7: 28,094,493 (GRCm39)	Y35H	probably damaging	Het
Pals2	T	C	6: 50,173,603 (GRCm39)	I489T	probably benign	Het
Panx3	T	A	9: 37,572,740 (GRCm39)	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,936,317 (GRCm39)	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,280,840 (GRCm39)	I200T	probably benign	Het
Ppara	A	T	15: 85,682,392 (GRCm39)	M363L	probably damaging	Het
Prmt8	A	T	6: 127,666,846 (GRCm39)	L376*	probably null	Het
Serpina1a	G	C	12: 103,820,067 (GRCm39)	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,247,041 (GRCm39)	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,902,559 (GRCm39)	W7R	possibly damaging	Het
Skint5	T	C	4: 113,799,857 (GRCm39)	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,764,191 (GRCm39)	T195S	probably damaging	Het
Slc2a6	T	C	2: 26,914,214 (GRCm39)	D301G	probably benign	Het
Stab2	A	T	10: 86,719,646 (GRCm39)		probably null	Het
Tctn3	C	G	19: 40,599,780 (GRCm39)	D141H	probably damaging	Het
Tnik	A	G	3: 28,715,877 (GRCm39)	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,676,002 (GRCm39)	V711I	probably benign	Het
Trim11	G	A	11: 58,869,160 (GRCm39)	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 84,910,681 (GRCm39)		probably null	Het
Vmn1r72	T	C	7: 11,403,711 (GRCm39)	I246V	probably benign	Het
Zfp362	G	T	4: 128,679,848 (GRCm39)	R273S	probably damaging	Het
Zfp715	T	C	7: 42,951,100 (GRCm39)	D66G	possibly damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	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
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
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'- CACAGCGTTTTCACCTGGAG -3'
(R):5'- AAGAAGCTCTCCGACAGCAG -3'

Sequencing Primer
(F):5'- AGGGAACAGCCATTGACTCCTTG -3'
(R):5'- TCTCCGACAGCAGAGGGC -3'

Posted On

2019-10-24