Mutagenetix > Incidental Mutation

Incidental Mutation 'R2091:Dido1'

500539

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

040096-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R2091 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180299757-180351792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180303677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1409 (V1409E)

Ref Sequence

ENSEMBL: ENSMUSP00000084794 (fasta)

Gene Model

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

AlphaFold

Q8C9B9

Predicted Effect

probably benign
Transcript: ENSMUST00000087517
AA Change: V1409E

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: V1409E

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,522,357 (GRCm39)	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,266,079 (GRCm39)	K197R	probably benign	Het
AA986860	T	C	1: 130,670,906 (GRCm39)	L376P	probably benign	Het
Adamts10	T	C	17: 33,770,166 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,070,493 (GRCm39)		probably null	Het
Adgrl1	T	C	8: 84,661,093 (GRCm39)	I862T	probably damaging	Het
Agbl1	G	A	7: 76,239,248 (GRCm39)	V583M	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Arfgap2	A	G	2: 91,100,586 (GRCm39)	K297R	probably benign	Het
Armh3	A	T	19: 45,941,119 (GRCm39)	L300Q	probably damaging	Het
Atg14	A	T	14: 47,780,352 (GRCm39)	I474N	probably damaging	Het
Atp2b4	C	A	1: 133,642,968 (GRCm39)	V1046F	probably benign	Het
Best1	A	G	19: 9,969,443 (GRCm39)	V205A	probably benign	Het
Bicdl1	A	G	5: 115,862,638 (GRCm39)	S206P	probably damaging	Het
Bltp1	T	C	3: 37,008,119 (GRCm39)	V1725A	probably damaging	Het
Bltp1	C	T	3: 37,042,405 (GRCm39)	T2797I	probably damaging	Het
Cacna1h	C	T	17: 25,651,850 (GRCm39)	C98Y	possibly damaging	Het
Calhm3	T	A	19: 47,140,430 (GRCm39)	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,411,071 (GRCm39)		probably null	Het
Cd248	A	T	19: 5,120,074 (GRCm39)	I641F	possibly damaging	Het
Chrnb3	C	T	8: 27,884,262 (GRCm39)	T333M	probably damaging	Het
Cyb5rl	A	G	4: 106,928,203 (GRCm39)	H113R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddx59	T	A	1: 136,344,447 (GRCm39)	D39E	probably benign	Het
Defa5	A	G	8: 21,787,513 (GRCm39)	D20G	probably damaging	Het
Dlc1	A	T	8: 37,404,763 (GRCm39)	V342E	probably benign	Het
Dsc2	G	A	18: 20,166,351 (GRCm39)	T760I	possibly damaging	Het
Dync1h1	A	G	12: 110,616,022 (GRCm39)	I3057V	probably benign	Het
Etnk2	T	G	1: 133,304,791 (GRCm39)		probably null	Het
Fbp2	G	T	13: 63,006,021 (GRCm39)	L31I	probably damaging	Het
Gbp7	A	T	3: 142,240,383 (GRCm39)	I34F	probably damaging	Het
Gcfc2	A	G	6: 81,920,460 (GRCm39)	E415G	probably damaging	Het
Glp1r	T	C	17: 31,144,523 (GRCm39)	L232P	probably damaging	Het
Gm10822	A	G	2: 73,729,619 (GRCm39)		noncoding transcript	Het
Gm42669	G	A	5: 107,655,776 (GRCm39)	V1192M	probably benign	Het
Gpr37	A	G	6: 25,689,062 (GRCm39)	S12P	possibly damaging	Het
Gpt	A	G	15: 76,582,176 (GRCm39)	E211G	possibly damaging	Het
Grxcr1	T	C	5: 68,267,755 (GRCm39)	I168T	probably damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Igkv8-30	A	C	6: 70,094,070 (GRCm39)	C114G	probably damaging	Het
Kcne4	T	C	1: 78,795,624 (GRCm39)	S91P	probably benign	Het
Kif5b	G	A	18: 6,213,248 (GRCm39)	Q715*	probably null	Het
Lamb1	T	A	12: 31,337,428 (GRCm39)	N386K	probably damaging	Het
Lcmt2	T	C	2: 120,969,097 (GRCm39)	N662S	probably damaging	Het
Lnx1	G	T	5: 74,780,727 (GRCm39)	H324N	probably benign	Het
Lrrc4	T	G	6: 28,830,586 (GRCm39)	D343A	probably benign	Het
Mars1	A	G	10: 127,135,154 (GRCm39)	S646P	probably damaging	Het
Mboat7	T	C	7: 3,687,010 (GRCm39)		probably benign	Het
Mlip	C	T	9: 77,072,145 (GRCm39)	V341I	possibly damaging	Het
Mterf1b	A	T	5: 4,247,057 (GRCm39)	T233S	possibly damaging	Het
Myo3a	A	T	2: 22,338,488 (GRCm39)	H442L	probably damaging	Het
Myrf	A	T	19: 10,201,964 (GRCm39)	V171D	possibly damaging	Het
Nbas	G	A	12: 13,411,046 (GRCm39)	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004 (GRCm39)	V226A	probably benign	Het
Nlrp4a	T	C	7: 26,149,578 (GRCm39)	L395P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nsun6	A	G	2: 15,044,542 (GRCm39)		probably null	Het
Ntrk2	A	G	13: 59,007,115 (GRCm39)	H239R	possibly damaging	Het
Or10g9	T	C	9: 39,912,500 (GRCm39)	T8A	probably benign	Het
Or4k51	A	T	2: 111,584,731 (GRCm39)	M46L	probably benign	Het
Or5aq7	T	C	2: 86,938,606 (GRCm39)	N42D	probably damaging	Het
Or5p70	A	G	7: 107,995,068 (GRCm39)	H247R	probably damaging	Het
Pate4	C	A	9: 35,519,553 (GRCm39)	A46S	possibly damaging	Het
Pcdhb18	T	C	18: 37,623,653 (GRCm39)	S328P	probably damaging	Het
Pdk4	A	G	6: 5,494,857 (GRCm39)		probably benign	Het
Pigm	T	C	1: 172,205,100 (GRCm39)	Y279H	probably damaging	Het
Plaat3	A	G	19: 7,556,474 (GRCm39)	I92V	probably damaging	Het
Plxdc2	A	G	2: 16,718,494 (GRCm39)	I379M	probably damaging	Het
Ppp1r35	A	G	5: 137,778,156 (GRCm39)	N217S	possibly damaging	Het
Prex1	G	A	2: 166,411,285 (GRCm39)	T1438I	possibly damaging	Het
Ptger4	T	A	15: 5,272,326 (GRCm39)	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,783,927 (GRCm39)	I124N	probably damaging	Het
Rest	A	G	5: 77,429,126 (GRCm39)	K515R	possibly damaging	Het
Ryr1	A	G	7: 28,785,474 (GRCm39)	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,960,863 (GRCm39)	T25K	probably benign	Het
Sacs	A	T	14: 61,429,368 (GRCm39)	I476L	possibly damaging	Het
Serpina3g	A	T	12: 104,205,417 (GRCm39)	D52V	probably damaging	Het
Skint6	T	C	4: 112,703,881 (GRCm39)	N998S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc10a4	G	A	5: 73,174,482 (GRCm39)		probably benign	Het
Slc24a2	G	T	4: 86,929,883 (GRCm39)	P538T	probably damaging	Het
Sntg1	T	A	1: 8,665,763 (GRCm39)	T184S	probably benign	Het
Ssbp1	A	G	6: 40,453,433 (GRCm39)	Y73C	probably null	Het
St18	G	A	1: 6,898,195 (GRCm39)	V666M	probably benign	Het
Suclg1	A	G	6: 73,241,259 (GRCm39)	K193R	probably benign	Het
Tcp11l1	T	C	2: 104,514,484 (GRCm39)	I428V	possibly damaging	Het
Th	T	A	7: 142,449,280 (GRCm39)	D275V	probably damaging	Het
Tnrc18	A	C	5: 142,759,396 (GRCm39)	S813R	unknown	Het
Tnrc6a	T	C	7: 122,771,343 (GRCm39)		probably null	Het
Trap1	A	C	16: 3,863,903 (GRCm39)	Y472*	probably null	Het
Trdv1	C	A	14: 54,119,626 (GRCm39)	Q96K	probably benign	Het
Trpm8	T	C	1: 88,271,048 (GRCm39)	I446T	probably damaging	Het
Tti2	T	C	8: 31,644,294 (GRCm39)	L297P	probably damaging	Het
Ttn	C	T	2: 76,565,355 (GRCm39)	G26545R	probably damaging	Het
Ttn	T	C	2: 76,587,488 (GRCm39)	D13208G	probably damaging	Het
Tubb3	A	G	8: 124,148,417 (GRCm39)		probably null	Het
Umodl1	A	G	17: 31,190,893 (GRCm39)	M247V	probably benign	Het
Wrn	T	A	8: 33,757,853 (GRCm39)	H812L	probably benign	Het
Zfp174	A	G	16: 3,672,506 (GRCm39)	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,461,731 (GRCm39)	K134*	probably null	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
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
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

Posted On

2017-12-01