Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01317:Dido1'

73891

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01317

Quality Score

Status

Chromosome

Chromosomal Location

180299757-180351792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 180313550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 907 (N907K)

Ref Sequence

ENSEMBL: ENSMUSP00000099346 (fasta)

Gene Model

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

AlphaFold

Q8C9B9

Predicted Effect

probably benign
Transcript: ENSMUST00000037764
AA Change: N367K

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048315
Gene: ENSMUSG00000038914
AA Change: N367K

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 benign
Transcript: ENSMUST00000087517
AA Change: N907K

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084794
Gene: ENSMUSG00000038914
AA Change: N907K

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 benign
Transcript: ENSMUST00000103056
AA Change: N907K

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099345
Gene: ENSMUSG00000038914
AA Change: N907K

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: N907K

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914
AA Change: N907K

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,362,597 (GRCm39)	D609E	probably damaging	Het
Aldh3b1	T	C	19: 3,968,104 (GRCm39)	I352V	probably benign	Het
Apeh	A	T	9: 107,963,406 (GRCm39)	S605R	probably benign	Het
Arhgap32	A	G	9: 32,168,260 (GRCm39)	K748E	probably benign	Het
Avpr1a	T	C	10: 122,285,472 (GRCm39)	S255P	probably benign	Het
Cadps2	T	A	6: 23,314,172 (GRCm39)	D1124V	possibly damaging	Het
Cask	C	T	X: 13,388,499 (GRCm39)	E83K	probably damaging	Het
Cep170b	A	G	12: 112,704,078 (GRCm39)	Y670C	probably damaging	Het
Chd3	A	G	11: 69,244,037 (GRCm39)	Y1343H	probably damaging	Het
Cit	T	A	5: 116,046,775 (GRCm39)	V396D	probably benign	Het
Cldn18	T	C	9: 99,578,135 (GRCm39)	T203A	probably benign	Het
Dmbt1	T	A	7: 130,642,921 (GRCm39)	D246E	probably damaging	Het
Dph1	T	C	11: 75,071,486 (GRCm39)	H303R	probably benign	Het
Dspp	T	A	5: 104,321,914 (GRCm39)	Y8N	probably damaging	Het
Efhc2	C	T	X: 17,071,198 (GRCm39)		probably benign	Het
Fam171a1	T	A	2: 3,203,663 (GRCm39)	V215E	probably damaging	Het
Fhip1a	T	C	3: 85,580,153 (GRCm39)	D684G	probably benign	Het
Foxm1	T	A	6: 128,344,316 (GRCm39)	M22K	probably damaging	Het
Gdpd4	A	C	7: 97,647,465 (GRCm39)	M371L	possibly damaging	Het
Hdac9	T	C	12: 34,479,488 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,413,908 (GRCm39)	W162R	probably damaging	Het
Hydin	A	T	8: 111,053,078 (GRCm39)	D250V	probably damaging	Het
Itga4	T	A	2: 79,153,005 (GRCm39)	C897*	probably null	Het
Itprid1	G	T	6: 55,944,790 (GRCm39)	A504S	possibly damaging	Het
Kcnd2	T	C	6: 21,727,339 (GRCm39)	*631Q	probably null	Het
Kcnn2	A	G	18: 45,693,694 (GRCm39)		probably null	Het
Lama1	A	T	17: 68,125,696 (GRCm39)	E2951V	probably damaging	Het
Lyst	A	G	13: 13,845,455 (GRCm39)	Q1944R	probably benign	Het
Mmp14	A	G	14: 54,673,247 (GRCm39)	T52A	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,372 (GRCm39)	N102K	probably benign	Het
Mrpl28	G	A	17: 26,344,489 (GRCm39)	G205D	probably damaging	Het
Mtmr4	T	C	11: 87,493,230 (GRCm39)		probably benign	Het
Oog2	A	G	4: 143,921,837 (GRCm39)	N249S	probably benign	Het
Or4f57	T	A	2: 111,790,620 (GRCm39)	H266L	possibly damaging	Het
Ppp6r2	T	A	15: 89,170,131 (GRCm39)	V882E	possibly damaging	Het
Qser1	A	C	2: 104,617,324 (GRCm39)	Y1073D	probably damaging	Het
Rbl2	C	A	8: 91,826,685 (GRCm39)	D480E	probably damaging	Het
Rfx7	G	A	9: 72,525,818 (GRCm39)	G1003S	probably damaging	Het
Rrh	A	C	3: 129,616,074 (GRCm39)	F20V	possibly damaging	Het
Rwdd3	A	G	3: 120,965,282 (GRCm39)	I15T	possibly damaging	Het
Sestd1	A	T	2: 77,022,889 (GRCm39)	M493K	possibly damaging	Het
Slc17a8	T	A	10: 89,456,666 (GRCm39)	L32F	probably benign	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Tbc1d10a	A	T	11: 4,162,826 (GRCm39)	Y223F	probably benign	Het
Tbx20	A	G	9: 24,681,051 (GRCm39)	V147A	probably damaging	Het
Tmem63c	A	T	12: 87,118,770 (GRCm39)		probably benign	Het
Tmtc2	C	A	10: 105,249,646 (GRCm39)	R29L	probably damaging	Het
Ttc21b	T	A	2: 66,018,700 (GRCm39)	M1236L	probably benign	Het
Unc119	T	A	11: 78,238,052 (GRCm39)	C12S	probably damaging	Het
Vcan	A	G	13: 89,839,787 (GRCm39)	M1919T	probably benign	Het
Zmat4	C	A	8: 24,392,185 (GRCm39)	T47K	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
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
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

Posted On

2013-10-07