Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02826:Dido1'

361205

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dido1

Ensembl Gene

ENSMUSG00000038914

Gene Name

death inducer-obliterator 1

Synonyms

6720461J16Rik, DIO-1, Datf1, D130048F08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

180657964-180709999 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180683958 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 479 (V479A)

Ref Sequence

ENSEMBL: ENSMUSP00000119689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087517] [ENSMUST00000103055] [ENSMUST00000103056] [ENSMUST00000103057] [ENSMUST00000130986]

AlphaFold

Q8C9B9

Predicted Effect

probably benign
Transcript: ENSMUST00000087517
AA Change: V479A

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

SMART Domains

Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: V479A

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

noncoding transcript
Transcript: ENSMUST00000103054

Predicted Effect

probably benign
Transcript: ENSMUST00000103055
AA Change: V479A

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

SMART Domains

Protein: ENSMUSP00000099344
Gene: ENSMUSG00000038914
AA Change: V479A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103056
AA Change: V479A

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

SMART Domains

Protein: ENSMUSP00000099345
Gene: ENSMUSG00000038914
AA Change: V479A

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: V479A

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

SMART Domains

Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914
AA Change: V479A

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: ENSMUST00000130986
AA Change: V479A

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

SMART Domains

Protein: ENSMUSP00000119689
Gene: ENSMUSG00000038914
AA Change: V479A

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

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	C	16: 90,926,062 (GRCm38)	D261E	probably benign	Het
1810041L15Rik	A	G	15: 84,420,129 (GRCm38)		probably benign	Het
4930404N11Rik	A	G	10: 81,364,736 (GRCm38)		probably benign	Het
A3galt2	T	C	4: 128,761,509 (GRCm38)		probably benign	Het
Alk	C	T	17: 71,869,536 (GRCm38)	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,228,315 (GRCm38)	S34P	probably benign	Het
Atp2a2	A	G	5: 122,489,291 (GRCm38)	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770 (GRCm38)	M845V	probably damaging	Het
Camk1d	A	G	2: 5,565,760 (GRCm38)	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,882,610 (GRCm38)	T193I	probably benign	Het
Chst15	T	A	7: 132,266,746 (GRCm38)	D315V	probably damaging	Het
Cux1	G	T	5: 136,308,003 (GRCm38)	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,185,481 (GRCm38)	E88K	possibly damaging	Het
Dlc1	G	T	8: 36,570,275 (GRCm38)		probably benign	Het
H2-Ab1	G	A	17: 34,264,911 (GRCm38)	R82Q	probably damaging	Het
Hps6	T	A	19: 46,006,041 (GRCm38)	*806K	probably null	Het
Ilf3	T	C	9: 21,398,044 (GRCm38)	S486P	probably benign	Het
Kdm1b	C	A	13: 47,080,467 (GRCm38)	T759K	probably damaging	Het
Kirrel	C	A	3: 87,088,485 (GRCm38)	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,577,144 (GRCm38)	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,828,737 (GRCm38)	Y100H	probably damaging	Het
Mastl	T	C	2: 23,145,409 (GRCm38)	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,962,148 (GRCm38)	E1576G	probably damaging	Het
Nek3	A	T	8: 22,160,368 (GRCm38)		probably null	Het
Nipal3	G	T	4: 135,468,550 (GRCm38)	Y247*	probably null	Het
Nt5e	A	C	9: 88,355,705 (GRCm38)	K229N	probably damaging	Het
Olfr237-ps1	A	G	6: 43,153,577 (GRCm38)	I91V	possibly damaging	Het
Olfr974	G	T	9: 39,942,958 (GRCm38)	G233C	probably damaging	Het
Opa1	A	G	16: 29,610,887 (GRCm38)	M290V	probably null	Het
Parp2	T	A	14: 50,815,415 (GRCm38)	I155K	probably benign	Het
Pde4dip	G	T	3: 97,767,087 (GRCm38)	A171E	probably damaging	Het
Prom2	C	T	2: 127,531,116 (GRCm38)	E678K	probably benign	Het
Rab12	A	G	17: 66,498,116 (GRCm38)		probably benign	Het
Rgs8	A	T	1: 153,670,799 (GRCm38)	T13S	probably damaging	Het
Setd3	A	G	12: 108,112,124 (GRCm38)		probably benign	Het
Slx4ip	G	A	2: 137,004,973 (GRCm38)	V53I	probably damaging	Het
Stil	A	G	4: 115,024,098 (GRCm38)	D613G	probably benign	Het
Tjp3	T	A	10: 81,273,689 (GRCm38)	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632 (GRCm38)	*236W	probably null	Het
Ttbk1	A	G	17: 46,470,660 (GRCm38)	V389A	probably benign	Het
Wdfy4	A	G	14: 32,971,750 (GRCm38)	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,629,420 (GRCm38)	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,400,904 (GRCm38)	S428G	probably benign	Het
Zfp286	T	C	11: 62,787,960 (GRCm38)	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,398,754 (GRCm38)	K468E	probably damaging	Het

Other mutations in Dido1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Dido1	APN	2	180,683,989 (GRCm38)	missense	probably benign
IGL00834:Dido1	APN	2	180,689,526 (GRCm38)	missense	possibly damaging	0.87
IGL01317:Dido1	APN	2	180,671,757 (GRCm38)	missense	probably benign	0.17
IGL01588:Dido1	APN	2	180,688,875 (GRCm38)	missense	probably benign	0.00
IGL01834:Dido1	APN	2	180,684,031 (GRCm38)	splice site	probably benign
IGL02102:Dido1	APN	2	180,662,247 (GRCm38)	missense	possibly damaging	0.58
IGL02556:Dido1	APN	2	180,689,335 (GRCm38)	missense	possibly damaging	0.69
IGL02756:Dido1	APN	2	180,661,923 (GRCm38)	missense	probably benign	0.00
IGL02970:Dido1	APN	2	180,689,415 (GRCm38)	missense	probably damaging	0.99
IGL03110:Dido1	APN	2	180,689,342 (GRCm38)	missense	probably damaging	1.00
IGL03116:Dido1	APN	2	180,670,979 (GRCm38)	missense	probably damaging	1.00
3370:Dido1	UTSW	2	180,671,542 (GRCm38)	missense	probably benign
A4554:Dido1	UTSW	2	180,675,371 (GRCm38)	missense	probably damaging	1.00
H8441:Dido1	UTSW	2	180,689,014 (GRCm38)	missense	probably benign	0.12
R0044:Dido1	UTSW	2	180,661,819 (GRCm38)	missense	probably damaging	1.00
R0044:Dido1	UTSW	2	180,661,819 (GRCm38)	missense	probably damaging	1.00
R0054:Dido1	UTSW	2	180,661,474 (GRCm38)	missense	probably benign	0.00
R0054:Dido1	UTSW	2	180,661,474 (GRCm38)	missense	probably benign	0.00
R0127:Dido1	UTSW	2	180,671,824 (GRCm38)	missense	probably benign	0.01
R0620:Dido1	UTSW	2	180,659,851 (GRCm38)	missense	probably benign	0.26
R0734:Dido1	UTSW	2	180,660,042 (GRCm38)	missense	probably benign	0.01
R1390:Dido1	UTSW	2	180,685,124 (GRCm38)	missense	possibly damaging	0.70
R1445:Dido1	UTSW	2	180,671,470 (GRCm38)	missense	possibly damaging	0.62
R1466:Dido1	UTSW	2	180,662,328 (GRCm38)	missense	probably damaging	1.00
R1466:Dido1	UTSW	2	180,662,328 (GRCm38)	missense	probably damaging	1.00
R1472:Dido1	UTSW	2	180,660,720 (GRCm38)	missense	probably benign	0.02
R1538:Dido1	UTSW	2	180,684,970 (GRCm38)	missense	possibly damaging	0.49
R1584:Dido1	UTSW	2	180,662,328 (GRCm38)	missense	probably damaging	1.00
R2020:Dido1	UTSW	2	180,659,585 (GRCm38)	missense	unknown
R2025:Dido1	UTSW	2	180,689,181 (GRCm38)	nonsense	probably null
R2026:Dido1	UTSW	2	180,689,181 (GRCm38)	nonsense	probably null
R2027:Dido1	UTSW	2	180,689,181 (GRCm38)	nonsense	probably null
R2089:Dido1	UTSW	2	180,661,884 (GRCm38)	missense	probably benign	0.29
R2091:Dido1	UTSW	2	180,661,884 (GRCm38)	missense	probably benign	0.29
R2091:Dido1	UTSW	2	180,661,884 (GRCm38)	missense	probably benign	0.29
R2495:Dido1	UTSW	2	180,689,388 (GRCm38)	missense	probably benign	0.00
R2931:Dido1	UTSW	2	180,661,653 (GRCm38)	missense	probably damaging	1.00
R3418:Dido1	UTSW	2	180,660,935 (GRCm38)	missense	possibly damaging	0.84
R3735:Dido1	UTSW	2	180,684,036 (GRCm38)	splice site	probably benign
R4523:Dido1	UTSW	2	180,672,292 (GRCm38)	missense	probably damaging	1.00
R4674:Dido1	UTSW	2	180,687,559 (GRCm38)	missense	probably damaging	0.97
R4729:Dido1	UTSW	2	180,687,650 (GRCm38)	missense	probably benign	0.00
R4762:Dido1	UTSW	2	180,689,575 (GRCm38)	missense	probably damaging	1.00
R4786:Dido1	UTSW	2	180,670,871 (GRCm38)	missense	possibly damaging	0.85
R4817:Dido1	UTSW	2	180,661,416 (GRCm38)	missense	probably benign	0.02
R4892:Dido1	UTSW	2	180,675,029 (GRCm38)	nonsense	probably null
R4979:Dido1	UTSW	2	180,660,813 (GRCm38)	missense	probably damaging	0.98
R5510:Dido1	UTSW	2	180,685,173 (GRCm38)	missense	probably benign	0.00
R5586:Dido1	UTSW	2	180,659,652 (GRCm38)	nonsense	probably null
R5672:Dido1	UTSW	2	180,671,903 (GRCm38)	missense	probably damaging	0.99
R5863:Dido1	UTSW	2	180,661,773 (GRCm38)	missense	probably benign	0.02
R5943:Dido1	UTSW	2	180,661,882 (GRCm38)	missense	probably benign	0.00
R5974:Dido1	UTSW	2	180,671,497 (GRCm38)	missense	probably benign	0.02
R6123:Dido1	UTSW	2	180,683,967 (GRCm38)	missense	probably benign	0.07
R6214:Dido1	UTSW	2	180,662,152 (GRCm38)	missense	probably damaging	1.00
R6215:Dido1	UTSW	2	180,662,152 (GRCm38)	missense	probably damaging	1.00
R6248:Dido1	UTSW	2	180,660,255 (GRCm38)	missense	probably damaging	1.00
R6285:Dido1	UTSW	2	180,661,147 (GRCm38)	missense	probably benign	0.00
R6349:Dido1	UTSW	2	180,660,701 (GRCm38)	missense	probably benign	0.03
R6437:Dido1	UTSW	2	180,675,013 (GRCm38)	missense	probably damaging	1.00
R6477:Dido1	UTSW	2	180,660,481 (GRCm38)	missense	probably benign	0.00
R6836:Dido1	UTSW	2	180,662,307 (GRCm38)	missense	probably benign	0.16
R7055:Dido1	UTSW	2	180,661,209 (GRCm38)	missense	probably benign	0.09
R7289:Dido1	UTSW	2	180,659,631 (GRCm38)	missense	unknown
R7304:Dido1	UTSW	2	180,687,493 (GRCm38)	missense	probably damaging	1.00
R7343:Dido1	UTSW	2	180,675,121 (GRCm38)	missense	possibly damaging	0.49
R7363:Dido1	UTSW	2	180,662,517 (GRCm38)	nonsense	probably null
R7429:Dido1	UTSW	2	180,689,526 (GRCm38)	missense	possibly damaging	0.87
R7594:Dido1	UTSW	2	180,675,112 (GRCm38)	missense	probably benign
R7629:Dido1	UTSW	2	180,661,473 (GRCm38)	missense	probably benign
R7899:Dido1	UTSW	2	180,671,597 (GRCm38)	missense	possibly damaging	0.82
R7946:Dido1	UTSW	2	180,661,708 (GRCm38)	missense	possibly damaging	0.81
R7951:Dido1	UTSW	2	180,670,881 (GRCm38)	missense	probably benign	0.01
R8033:Dido1	UTSW	2	180,674,842 (GRCm38)	missense	probably damaging	1.00
R8069:Dido1	UTSW	2	180,660,912 (GRCm38)	missense	probably benign
R8331:Dido1	UTSW	2	180,660,449 (GRCm38)	missense	probably benign	0.00
R8479:Dido1	UTSW	2	180,673,229 (GRCm38)	critical splice donor site	probably null
R8936:Dido1	UTSW	2	180,661,402 (GRCm38)	missense	probably benign
R9089:Dido1	UTSW	2	180,661,500 (GRCm38)	missense	probably benign	0.00
R9647:Dido1	UTSW	2	180,673,275 (GRCm38)	missense	probably benign	0.00
R9648:Dido1	UTSW	2	180,660,675 (GRCm38)	missense	probably damaging	1.00
R9784:Dido1	UTSW	2	180,683,561 (GRCm38)	missense	probably benign	0.27
V1024:Dido1	UTSW	2	180,689,014 (GRCm38)	missense	probably benign	0.12
X0011:Dido1	UTSW	2	180,660,834 (GRCm38)	missense	probably benign	0.00
X0019:Dido1	UTSW	2	180,671,572 (GRCm38)	missense	possibly damaging	0.62

Posted On

2015-12-18