Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02525:Dock9'

297071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, B230309H04Rik, Zizimin1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

121779458-122035249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121877538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 404 (D404N)

Ref Sequence

ENSEMBL: ENSMUSP00000097872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040700] [ENSMUST00000100299] [ENSMUST00000212181] [ENSMUST00000212376]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040700
AA Change: D402N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: D402N

Domain	Start	End	E-Value	Type
Pfam:DUF3398	58	151	5.6e-36	PFAM
PH	172	280	1.38e-16	SMART
Blast:PH	297	372	4e-25	BLAST
Pfam:DOCK-C2	631	822	5.3e-51	PFAM
Pfam:DHR-2	1523	2068	2.1e-212	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100299
AA Change: D404N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: D404N

Domain	Start	End	E-Value	Type
Pfam:DUF3398	58	153	1.5e-32	PFAM
PH	174	282	1.38e-16	SMART
Blast:PH	299	374	4e-25	BLAST
Pfam:DOCK-C2	632	825	1.3e-59	PFAM
low complexity region	1752	1763	N/A	INTRINSIC
Pfam:Ded_cyto	1836	2013	2.4e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212181
AA Change: D402N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212376
AA Change: D416N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,101,060 (GRCm39)	V701I	probably benign	Het
Adam18	A	G	8: 25,131,783 (GRCm39)		probably benign	Het
Adamts20	G	T	15: 94,180,959 (GRCm39)		probably null	Het
Adgrf5	G	T	17: 43,760,854 (GRCm39)	V850F	probably damaging	Het
Agap2	T	A	10: 126,919,070 (GRCm39)		probably null	Het
Ap4b1	G	A	3: 103,720,164 (GRCm39)	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Ccdc12	T	A	9: 110,540,169 (GRCm39)	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,461,249 (GRCm39)	S529P	probably damaging	Het
Cilk1	A	G	9: 78,067,675 (GRCm39)	K390E	probably benign	Het
Col1a2	A	G	6: 4,531,355 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,344,743 (GRCm39)	Q138L	probably benign	Het
Dlc1	A	T	8: 37,046,800 (GRCm39)	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,027,790 (GRCm39)	V682M	probably benign	Het
Eif2b4	A	G	5: 31,346,962 (GRCm39)	V402A	probably damaging	Het
Erlin1	T	C	19: 44,027,634 (GRCm39)	H268R	probably benign	Het
Ermard	T	C	17: 15,279,601 (GRCm39)		probably benign	Het
Fam43a	A	G	16: 30,419,596 (GRCm39)	K60R	probably benign	Het
Frmd4b	T	A	6: 97,389,494 (GRCm39)	D78V	probably damaging	Het
Gabrq	A	G	X: 71,880,430 (GRCm39)	T308A	possibly damaging	Het
Gipr	A	G	7: 18,893,690 (GRCm39)	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,848,680 (GRCm39)	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,739,907 (GRCm39)		probably benign	Het
Gm21759	T	C	5: 8,229,967 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,250 (GRCm39)		noncoding transcript	Het
Gspt1	A	G	16: 11,048,854 (GRCm39)	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,319 (GRCm39)	S526G	probably benign	Het
Hey2	A	G	10: 30,718,643 (GRCm39)	M1T	probably null	Het
Hipk3	T	C	2: 104,301,757 (GRCm39)	D145G	probably damaging	Het
Itgae	A	G	11: 73,021,777 (GRCm39)	D886G	probably damaging	Het
Ktn1	T	A	14: 47,962,200 (GRCm39)		probably null	Het
Med12l	A	G	3: 58,975,789 (GRCm39)	K239R	probably benign	Het
Milr1	A	T	11: 106,656,101 (GRCm39)	M124L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,941,583 (GRCm39)	S95F	probably benign	Het
Myef2	C	A	2: 124,955,978 (GRCm39)		probably benign	Het
Nfrkb	T	A	9: 31,325,812 (GRCm39)	I1085N	possibly damaging	Het
Or13f5	A	T	4: 52,825,616 (GRCm39)	Y73F	probably damaging	Het
Or8d2	T	A	9: 38,759,536 (GRCm39)	M42K	possibly damaging	Het
Prodh	G	A	16: 17,890,332 (GRCm39)	Q430*	probably null	Het
Pstk	G	T	7: 130,972,922 (GRCm39)	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067 (GRCm39)	E108D	probably benign	Het
Ptpn9	T	A	9: 56,944,009 (GRCm39)	Y294*	probably null	Het
Rnls	C	T	19: 33,115,614 (GRCm39)	V153M	possibly damaging	Het
Ros1	T	C	10: 51,992,138 (GRCm39)	T1362A	possibly damaging	Het
Samt3	G	A	X: 85,090,527 (GRCm39)	A140T	possibly damaging	Het
Sbpl	T	A	17: 24,173,837 (GRCm39)	M16L	unknown	Het
Sephs1	G	A	2: 4,911,407 (GRCm39)	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,135 (GRCm39)	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,551,051 (GRCm39)		probably benign	Het
Slc7a9	T	C	7: 35,152,860 (GRCm39)	S93P	probably damaging	Het
Slx4	A	G	16: 3,798,461 (GRCm39)	S1444P	probably damaging	Het
Spmap2l	T	A	5: 77,164,400 (GRCm39)	D134E	probably benign	Het
Stk32b	C	T	5: 37,688,977 (GRCm39)	V116M	probably damaging	Het
Supt5	A	G	7: 28,018,372 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,147,777 (GRCm39)	S6439T	probably damaging	Het
Taar7d	A	G	10: 23,903,994 (GRCm39)	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971 (GRCm39)	I51F	probably damaging	Het
Tk2	A	T	8: 104,970,032 (GRCm39)	N77K	probably benign	Het
Tmprss3	T	A	17: 31,413,865 (GRCm39)		probably benign	Het
Tnfrsf10b	T	C	14: 70,019,825 (GRCm39)	M319T	probably damaging	Het
Trim24	A	G	6: 37,922,653 (GRCm39)	R417G	probably damaging	Het
Ttn	C	A	2: 76,594,658 (GRCm39)	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,901,447 (GRCm39)	T525A	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wnt3	C	T	11: 103,703,296 (GRCm39)	R260W	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zbtb5	T	C	4: 44,994,731 (GRCm39)	T218A	probably benign	Het
Znfx1	C	T	2: 166,879,457 (GRCm39)	E776K	probably benign	Het

Other mutations in Dock9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Dock9	APN	14	121,905,880 (GRCm39)	missense	probably benign	0.12
IGL00817:Dock9	APN	14	121,935,703 (GRCm39)	missense	probably damaging	0.96
IGL00923:Dock9	APN	14	121,844,504 (GRCm39)	unclassified	probably benign
IGL01385:Dock9	APN	14	121,817,995 (GRCm39)	missense	possibly damaging	0.94
IGL01567:Dock9	APN	14	121,890,496 (GRCm39)	missense	probably damaging	1.00
IGL01767:Dock9	APN	14	121,860,282 (GRCm39)	missense	possibly damaging	0.91
IGL01811:Dock9	APN	14	121,796,440 (GRCm39)	missense	probably damaging	1.00
IGL02512:Dock9	APN	14	121,856,950 (GRCm39)	splice site	probably benign
IGL02550:Dock9	APN	14	121,935,724 (GRCm39)	start codon destroyed	probably null	0.07
IGL02559:Dock9	APN	14	121,862,559 (GRCm39)	splice site	probably benign
IGL02666:Dock9	APN	14	121,818,111 (GRCm39)	missense	probably benign	0.42
IGL02674:Dock9	APN	14	121,833,023 (GRCm39)	splice site	probably null
IGL02795:Dock9	APN	14	121,877,390 (GRCm39)	missense	probably benign	0.04
IGL03074:Dock9	APN	14	121,844,682 (GRCm39)	missense	possibly damaging	0.95
IGL03095:Dock9	APN	14	121,876,940 (GRCm39)	missense	probably damaging	1.00
IGL03294:Dock9	APN	14	121,879,035 (GRCm39)	splice site	probably benign
R0036:Dock9	UTSW	14	121,860,265 (GRCm39)	missense	probably damaging	1.00
R0050:Dock9	UTSW	14	121,844,637 (GRCm39)	missense	probably benign	0.43
R0050:Dock9	UTSW	14	121,844,637 (GRCm39)	missense	probably benign	0.43
R0164:Dock9	UTSW	14	121,835,077 (GRCm39)	missense	probably damaging	1.00
R0164:Dock9	UTSW	14	121,835,077 (GRCm39)	missense	probably damaging	1.00
R0270:Dock9	UTSW	14	121,813,411 (GRCm39)	missense	probably benign	0.02
R0494:Dock9	UTSW	14	121,899,996 (GRCm39)	missense	possibly damaging	0.64
R0726:Dock9	UTSW	14	121,889,180 (GRCm39)	nonsense	probably null
R1029:Dock9	UTSW	14	121,837,096 (GRCm39)	splice site	probably null
R1214:Dock9	UTSW	14	121,823,728 (GRCm39)	missense	probably benign	0.02
R1231:Dock9	UTSW	14	121,813,362 (GRCm39)	missense	possibly damaging	0.61
R1535:Dock9	UTSW	14	121,783,476 (GRCm39)	missense	probably damaging	1.00
R1629:Dock9	UTSW	14	121,780,986 (GRCm39)	missense	possibly damaging	0.88
R1637:Dock9	UTSW	14	121,889,187 (GRCm39)	missense	possibly damaging	0.66
R1733:Dock9	UTSW	14	121,864,292 (GRCm39)	missense	probably benign	0.01
R1772:Dock9	UTSW	14	121,847,210 (GRCm39)	missense	probably benign	0.07
R1855:Dock9	UTSW	14	121,877,571 (GRCm39)	missense	probably damaging	1.00
R1888:Dock9	UTSW	14	121,862,617 (GRCm39)	missense	probably benign	0.18
R1888:Dock9	UTSW	14	121,862,617 (GRCm39)	missense	probably benign	0.18
R1901:Dock9	UTSW	14	121,862,565 (GRCm39)	splice site	probably null
R1920:Dock9	UTSW	14	121,820,792 (GRCm39)	missense	probably damaging	1.00
R1987:Dock9	UTSW	14	121,829,242 (GRCm39)	missense	probably benign	0.00
R3035:Dock9	UTSW	14	121,844,249 (GRCm39)	missense	possibly damaging	0.60
R3851:Dock9	UTSW	14	121,866,498 (GRCm39)	splice site	probably null
R4020:Dock9	UTSW	14	121,844,267 (GRCm39)	missense	probably benign	0.00
R4021:Dock9	UTSW	14	121,864,324 (GRCm39)	missense	possibly damaging	0.80
R4089:Dock9	UTSW	14	121,820,883 (GRCm39)	missense	probably damaging	1.00
R4258:Dock9	UTSW	14	121,818,854 (GRCm39)	missense	probably benign	0.00
R4423:Dock9	UTSW	14	121,799,465 (GRCm39)	critical splice donor site	probably null
R4561:Dock9	UTSW	14	121,796,419 (GRCm39)	missense	probably benign	0.01
R4604:Dock9	UTSW	14	121,905,871 (GRCm39)	missense	probably damaging	1.00
R4646:Dock9	UTSW	14	121,823,658 (GRCm39)	missense	probably damaging	1.00
R4647:Dock9	UTSW	14	121,823,658 (GRCm39)	missense	probably damaging	1.00
R4776:Dock9	UTSW	14	121,847,509 (GRCm39)	missense	possibly damaging	0.81
R4809:Dock9	UTSW	14	121,784,008 (GRCm39)	missense	probably benign	0.37
R4865:Dock9	UTSW	14	121,780,917 (GRCm39)	makesense	probably null
R4951:Dock9	UTSW	14	121,890,547 (GRCm39)	missense	probably benign	0.35
R5151:Dock9	UTSW	14	121,815,582 (GRCm39)	missense	probably damaging	1.00
R5359:Dock9	UTSW	14	121,890,472 (GRCm39)	missense	possibly damaging	0.69
R5366:Dock9	UTSW	14	121,815,615 (GRCm39)	missense	probably damaging	1.00
R5502:Dock9	UTSW	14	121,847,594 (GRCm39)	splice site	probably null
R5579:Dock9	UTSW	14	121,837,107 (GRCm39)	missense	probably damaging	1.00
R5753:Dock9	UTSW	14	121,872,037 (GRCm39)	missense	probably benign	0.05
R5836:Dock9	UTSW	14	121,918,763 (GRCm39)	missense	probably damaging	1.00
R5858:Dock9	UTSW	14	121,866,204 (GRCm39)	missense	probably benign	0.00
R5890:Dock9	UTSW	14	121,905,820 (GRCm39)	critical splice donor site	probably null
R6075:Dock9	UTSW	14	121,783,385 (GRCm39)	missense	probably benign
R6298:Dock9	UTSW	14	121,872,006 (GRCm39)	missense	probably damaging	1.00
R6306:Dock9	UTSW	14	121,799,492 (GRCm39)	missense	probably damaging	1.00
R6321:Dock9	UTSW	14	121,783,433 (GRCm39)	missense	probably damaging	1.00
R6330:Dock9	UTSW	14	121,842,655 (GRCm39)	start codon destroyed	probably null	0.00
R6719:Dock9	UTSW	14	121,847,439 (GRCm39)	missense	probably damaging	1.00
R6784:Dock9	UTSW	14	121,780,926 (GRCm39)	missense	probably damaging	1.00
R6826:Dock9	UTSW	14	121,860,330 (GRCm39)	missense	probably damaging	1.00
R6830:Dock9	UTSW	14	121,860,330 (GRCm39)	missense	probably damaging	1.00
R6838:Dock9	UTSW	14	121,784,008 (GRCm39)	missense	possibly damaging	0.71
R6868:Dock9	UTSW	14	121,823,676 (GRCm39)	missense	probably benign	0.37
R6919:Dock9	UTSW	14	121,880,564 (GRCm39)	missense	probably benign	0.42
R6989:Dock9	UTSW	14	121,864,791 (GRCm39)	missense	probably damaging	1.00
R7539:Dock9	UTSW	14	121,818,848 (GRCm39)	missense	probably damaging	1.00
R7645:Dock9	UTSW	14	121,835,075 (GRCm39)	missense	probably benign	0.44
R7875:Dock9	UTSW	14	121,863,396 (GRCm39)	nonsense	probably null
R7900:Dock9	UTSW	14	121,783,491 (GRCm39)	missense	possibly damaging	0.84
R8040:Dock9	UTSW	14	121,889,206 (GRCm39)	missense	probably benign	0.06
R8420:Dock9	UTSW	14	121,783,454 (GRCm39)	missense	probably damaging	1.00
R8511:Dock9	UTSW	14	121,918,847 (GRCm39)	missense	probably damaging	1.00
R8511:Dock9	UTSW	14	121,864,801 (GRCm39)	missense	probably benign	0.40
R8514:Dock9	UTSW	14	121,896,199 (GRCm39)	missense	probably benign	0.25
R8691:Dock9	UTSW	14	121,877,517 (GRCm39)	missense	possibly damaging	0.49
R8804:Dock9	UTSW	14	121,842,595 (GRCm39)	missense	probably damaging	0.98
R8894:Dock9	UTSW	14	121,860,373 (GRCm39)	missense	probably benign	0.10
R8900:Dock9	UTSW	14	121,817,940 (GRCm39)	missense	probably damaging	1.00
R9069:Dock9	UTSW	14	121,866,324 (GRCm39)	missense	probably damaging	0.98
R9218:Dock9	UTSW	14	121,905,871 (GRCm39)	missense	probably damaging	1.00
R9233:Dock9	UTSW	14	121,820,781 (GRCm39)	missense	probably benign	0.09
R9236:Dock9	UTSW	14	121,876,970 (GRCm39)	missense	probably damaging	1.00
R9285:Dock9	UTSW	14	121,833,012 (GRCm39)	missense	probably benign
R9451:Dock9	UTSW	14	121,787,601 (GRCm39)	splice site	probably benign
R9461:Dock9	UTSW	14	121,842,601 (GRCm39)	missense	probably benign	0.05
R9484:Dock9	UTSW	14	121,818,844 (GRCm39)	missense	probably damaging	1.00
R9517:Dock9	UTSW	14	121,829,236 (GRCm39)	missense	probably benign	0.07
R9542:Dock9	UTSW	14	121,864,775 (GRCm39)	missense	probably damaging	1.00
R9694:Dock9	UTSW	14	121,818,791 (GRCm39)	missense	probably damaging	1.00
R9701:Dock9	UTSW	14	121,876,983 (GRCm39)	missense	probably benign	0.01
R9703:Dock9	UTSW	14	121,781,989 (GRCm39)	makesense	probably null
R9726:Dock9	UTSW	14	121,835,149 (GRCm39)	missense	possibly damaging	0.61
R9741:Dock9	UTSW	14	121,877,516 (GRCm39)	missense	probably damaging	1.00
Z1088:Dock9	UTSW	14	121,792,687 (GRCm39)	missense	probably damaging	1.00
Z1176:Dock9	UTSW	14	121,889,194 (GRCm39)	missense	probably benign

Posted On

2015-04-16