Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Dock9'

590498

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

MMRRC Submission

045701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121597663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1305 (V1305M)

Ref Sequence

ENSEMBL: ENSMUSP00000148834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040700] [ENSMUST00000100299] [ENSMUST00000212181] [ENSMUST00000212376] [ENSMUST00000212416]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040700
AA Change: V1304M

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: V1304M

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 benign
Transcript: ENSMUST00000100299
AA Change: V1306M

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: V1306M

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 benign
Transcript: ENSMUST00000212181
AA Change: V1305M

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212376
AA Change: V1318M

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000212416
AA Change: V100M

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255 (GRCm38)	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764 (GRCm38)		probably benign	Het
Amn1	C	T	6: 149,185,031 (GRCm38)	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430 (GRCm38)	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963 (GRCm38)	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169 (GRCm38)		probably null	Het
Cnot10	T	C	9: 114,613,637 (GRCm38)	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198 (GRCm38)		probably null	Het
Coq2	A	C	5: 100,660,250 (GRCm38)	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974 (GRCm38)	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363 (GRCm38)	L204P	probably damaging	Het
Dusp16	A	G	6: 134,725,925 (GRCm38)	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181 (GRCm38)	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037 (GRCm38)	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204 (GRCm38)	H329R	possibly damaging	Het
Gpr3	A	G	4: 133,211,329 (GRCm38)	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729 (GRCm38)	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643 (GRCm38)	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546 (GRCm38)		probably benign	Het
Ms4a6b	A	T	19: 11,523,940 (GRCm38)	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658 (GRCm38)	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003 (GRCm38)	E262G	probably benign	Het
Or4x11	T	A	2: 90,037,747 (GRCm38)	I276K	possibly damaging	Het
Or5b108	T	C	19: 13,191,573 (GRCm38)	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412 (GRCm38)	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593 (GRCm38)	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444 (GRCm38)	T151A	unknown	Het
Pramel51	T	C	12: 88,176,258 (GRCm38)	T392A	probably damaging	Het
Psmb8	T	C	17: 34,200,212 (GRCm38)	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391 (GRCm38)	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034 (GRCm38)	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617 (GRCm38)	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183 (GRCm38)		probably benign	Het
Slc12a2	T	C	18: 57,896,378 (GRCm38)	F279L	possibly damaging	Het
Slc49a4	T	A	16: 35,734,068 (GRCm38)		probably null	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295 (GRCm38)		probably benign	Het
Srgn	C	T	10: 62,494,978 (GRCm38)	W116*	probably null	Het
Svil	A	G	18: 5,099,663 (GRCm38)	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541 (GRCm38)	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553 (GRCm38)	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989 (GRCm38)	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393 (GRCm38)	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681 (GRCm38)	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906 (GRCm38)	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576 (GRCm38)	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602 (GRCm38)	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777 (GRCm38)	P385S	probably benign	Het

Other mutations in Dock9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Dock9	APN	14	121,668,468 (GRCm38)	missense	probably benign	0.12
IGL00817:Dock9	APN	14	121,698,291 (GRCm38)	missense	probably damaging	0.96
IGL00923:Dock9	APN	14	121,607,092 (GRCm38)	unclassified	probably benign
IGL01385:Dock9	APN	14	121,580,583 (GRCm38)	missense	possibly damaging	0.94
IGL01567:Dock9	APN	14	121,653,084 (GRCm38)	missense	probably damaging	1.00
IGL01767:Dock9	APN	14	121,622,870 (GRCm38)	missense	possibly damaging	0.91
IGL01811:Dock9	APN	14	121,559,028 (GRCm38)	missense	probably damaging	1.00
IGL02512:Dock9	APN	14	121,619,538 (GRCm38)	splice site	probably benign
IGL02525:Dock9	APN	14	121,640,126 (GRCm38)	missense	probably damaging	1.00
IGL02550:Dock9	APN	14	121,698,312 (GRCm38)	start codon destroyed	probably null	0.07
IGL02559:Dock9	APN	14	121,625,147 (GRCm38)	splice site	probably benign
IGL02666:Dock9	APN	14	121,580,699 (GRCm38)	missense	probably benign	0.42
IGL02674:Dock9	APN	14	121,595,611 (GRCm38)	splice site	probably null
IGL02795:Dock9	APN	14	121,639,978 (GRCm38)	missense	probably benign	0.04
IGL03074:Dock9	APN	14	121,607,270 (GRCm38)	missense	possibly damaging	0.95
IGL03095:Dock9	APN	14	121,639,528 (GRCm38)	missense	probably damaging	1.00
IGL03294:Dock9	APN	14	121,641,623 (GRCm38)	splice site	probably benign
R0036:Dock9	UTSW	14	121,622,853 (GRCm38)	missense	probably damaging	1.00
R0050:Dock9	UTSW	14	121,607,225 (GRCm38)	missense	probably benign	0.43
R0050:Dock9	UTSW	14	121,607,225 (GRCm38)	missense	probably benign	0.43
R0164:Dock9	UTSW	14	121,597,665 (GRCm38)	missense	probably damaging	1.00
R0164:Dock9	UTSW	14	121,597,665 (GRCm38)	missense	probably damaging	1.00
R0270:Dock9	UTSW	14	121,575,999 (GRCm38)	missense	probably benign	0.02
R0494:Dock9	UTSW	14	121,662,584 (GRCm38)	missense	possibly damaging	0.64
R0726:Dock9	UTSW	14	121,651,768 (GRCm38)	nonsense	probably null
R1029:Dock9	UTSW	14	121,599,684 (GRCm38)	splice site	probably null
R1214:Dock9	UTSW	14	121,586,316 (GRCm38)	missense	probably benign	0.02
R1231:Dock9	UTSW	14	121,575,950 (GRCm38)	missense	possibly damaging	0.61
R1535:Dock9	UTSW	14	121,546,064 (GRCm38)	missense	probably damaging	1.00
R1629:Dock9	UTSW	14	121,543,574 (GRCm38)	missense	possibly damaging	0.88
R1637:Dock9	UTSW	14	121,651,775 (GRCm38)	missense	possibly damaging	0.66
R1733:Dock9	UTSW	14	121,626,880 (GRCm38)	missense	probably benign	0.01
R1772:Dock9	UTSW	14	121,609,798 (GRCm38)	missense	probably benign	0.07
R1855:Dock9	UTSW	14	121,640,159 (GRCm38)	missense	probably damaging	1.00
R1888:Dock9	UTSW	14	121,625,205 (GRCm38)	missense	probably benign	0.18
R1888:Dock9	UTSW	14	121,625,205 (GRCm38)	missense	probably benign	0.18
R1901:Dock9	UTSW	14	121,625,153 (GRCm38)	splice site	probably null
R1920:Dock9	UTSW	14	121,583,380 (GRCm38)	missense	probably damaging	1.00
R1987:Dock9	UTSW	14	121,591,830 (GRCm38)	missense	probably benign	0.00
R3035:Dock9	UTSW	14	121,606,837 (GRCm38)	missense	possibly damaging	0.60
R3851:Dock9	UTSW	14	121,629,086 (GRCm38)	splice site	probably null
R4020:Dock9	UTSW	14	121,606,855 (GRCm38)	missense	probably benign	0.00
R4021:Dock9	UTSW	14	121,626,912 (GRCm38)	missense	possibly damaging	0.80
R4089:Dock9	UTSW	14	121,583,471 (GRCm38)	missense	probably damaging	1.00
R4258:Dock9	UTSW	14	121,581,442 (GRCm38)	missense	probably benign	0.00
R4423:Dock9	UTSW	14	121,562,053 (GRCm38)	critical splice donor site	probably null
R4561:Dock9	UTSW	14	121,559,007 (GRCm38)	missense	probably benign	0.01
R4604:Dock9	UTSW	14	121,668,459 (GRCm38)	missense	probably damaging	1.00
R4646:Dock9	UTSW	14	121,586,246 (GRCm38)	missense	probably damaging	1.00
R4647:Dock9	UTSW	14	121,586,246 (GRCm38)	missense	probably damaging	1.00
R4776:Dock9	UTSW	14	121,610,097 (GRCm38)	missense	possibly damaging	0.81
R4809:Dock9	UTSW	14	121,546,596 (GRCm38)	missense	probably benign	0.37
R4865:Dock9	UTSW	14	121,543,505 (GRCm38)	makesense	probably null
R4951:Dock9	UTSW	14	121,653,135 (GRCm38)	missense	probably benign	0.35
R5151:Dock9	UTSW	14	121,578,170 (GRCm38)	missense	probably damaging	1.00
R5359:Dock9	UTSW	14	121,653,060 (GRCm38)	missense	possibly damaging	0.69
R5366:Dock9	UTSW	14	121,578,203 (GRCm38)	missense	probably damaging	1.00
R5502:Dock9	UTSW	14	121,610,182 (GRCm38)	splice site	probably null
R5579:Dock9	UTSW	14	121,599,695 (GRCm38)	missense	probably damaging	1.00
R5753:Dock9	UTSW	14	121,634,625 (GRCm38)	missense	probably benign	0.05
R5836:Dock9	UTSW	14	121,681,351 (GRCm38)	missense	probably damaging	1.00
R5858:Dock9	UTSW	14	121,628,792 (GRCm38)	missense	probably benign	0.00
R5890:Dock9	UTSW	14	121,668,408 (GRCm38)	critical splice donor site	probably null
R6075:Dock9	UTSW	14	121,545,973 (GRCm38)	missense	probably benign
R6298:Dock9	UTSW	14	121,634,594 (GRCm38)	missense	probably damaging	1.00
R6306:Dock9	UTSW	14	121,562,080 (GRCm38)	missense	probably damaging	1.00
R6321:Dock9	UTSW	14	121,546,021 (GRCm38)	missense	probably damaging	1.00
R6330:Dock9	UTSW	14	121,605,243 (GRCm38)	start codon destroyed	probably null	0.00
R6719:Dock9	UTSW	14	121,610,027 (GRCm38)	missense	probably damaging	1.00
R6784:Dock9	UTSW	14	121,543,514 (GRCm38)	missense	probably damaging	1.00
R6826:Dock9	UTSW	14	121,622,918 (GRCm38)	missense	probably damaging	1.00
R6830:Dock9	UTSW	14	121,622,918 (GRCm38)	missense	probably damaging	1.00
R6838:Dock9	UTSW	14	121,546,596 (GRCm38)	missense	possibly damaging	0.71
R6868:Dock9	UTSW	14	121,586,264 (GRCm38)	missense	probably benign	0.37
R6919:Dock9	UTSW	14	121,643,152 (GRCm38)	missense	probably benign	0.42
R6989:Dock9	UTSW	14	121,627,379 (GRCm38)	missense	probably damaging	1.00
R7539:Dock9	UTSW	14	121,581,436 (GRCm38)	missense	probably damaging	1.00
R7875:Dock9	UTSW	14	121,625,984 (GRCm38)	nonsense	probably null
R7900:Dock9	UTSW	14	121,546,079 (GRCm38)	missense	possibly damaging	0.84
R8040:Dock9	UTSW	14	121,651,794 (GRCm38)	missense	probably benign	0.06
R8420:Dock9	UTSW	14	121,546,042 (GRCm38)	missense	probably damaging	1.00
R8511:Dock9	UTSW	14	121,681,435 (GRCm38)	missense	probably damaging	1.00
R8511:Dock9	UTSW	14	121,627,389 (GRCm38)	missense	probably benign	0.40
R8514:Dock9	UTSW	14	121,658,787 (GRCm38)	missense	probably benign	0.25
R8691:Dock9	UTSW	14	121,640,105 (GRCm38)	missense	possibly damaging	0.49
R8804:Dock9	UTSW	14	121,605,183 (GRCm38)	missense	probably damaging	0.98
R8894:Dock9	UTSW	14	121,622,961 (GRCm38)	missense	probably benign	0.10
R8900:Dock9	UTSW	14	121,580,528 (GRCm38)	missense	probably damaging	1.00
R9069:Dock9	UTSW	14	121,628,912 (GRCm38)	missense	probably damaging	0.98
R9218:Dock9	UTSW	14	121,668,459 (GRCm38)	missense	probably damaging	1.00
R9233:Dock9	UTSW	14	121,583,369 (GRCm38)	missense	probably benign	0.09
R9236:Dock9	UTSW	14	121,639,558 (GRCm38)	missense	probably damaging	1.00
R9285:Dock9	UTSW	14	121,595,600 (GRCm38)	missense	probably benign
R9451:Dock9	UTSW	14	121,550,189 (GRCm38)	splice site	probably benign
R9461:Dock9	UTSW	14	121,605,189 (GRCm38)	missense	probably benign	0.05
R9484:Dock9	UTSW	14	121,581,432 (GRCm38)	missense	probably damaging	1.00
R9517:Dock9	UTSW	14	121,591,824 (GRCm38)	missense	probably benign	0.07
R9542:Dock9	UTSW	14	121,627,363 (GRCm38)	missense	probably damaging	1.00
R9694:Dock9	UTSW	14	121,581,379 (GRCm38)	missense	probably damaging	1.00
R9701:Dock9	UTSW	14	121,639,571 (GRCm38)	missense	probably benign	0.01
R9703:Dock9	UTSW	14	121,544,577 (GRCm38)	makesense	probably null
R9726:Dock9	UTSW	14	121,597,737 (GRCm38)	missense	possibly damaging	0.61
R9741:Dock9	UTSW	14	121,640,104 (GRCm38)	missense	probably damaging	1.00
Z1088:Dock9	UTSW	14	121,555,275 (GRCm38)	missense	probably damaging	1.00
Z1176:Dock9	UTSW	14	121,651,782 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACATCAAGGCTTCTATTACTACTGC -3'
(R):5'- GGGCTACCTCTCTTTGCAGTTG -3'

Sequencing Primer
(F):5'- AGGCTTCTATTACTACTGCATTTAGC -3'
(R):5'- CAGTTGTGTGATCTGACTCAAAG -3'

Posted On

2019-10-24