Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Dock9'

343108

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, B230309H04Rik, Zizimin1

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121779458-122035249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121796419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1853 (M1853L)

Ref Sequence

ENSEMBL: ENSMUSP00000047881 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040700
AA Change: M1853L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: M1853L

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: M1798L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: M1798L

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

noncoding transcript
Transcript: ENSMUST00000211803

Predicted Effect

probably benign
Transcript: ENSMUST00000212181
AA Change: M1828L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000212376
AA Change: M1820L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 69,837,848 (GRCm39)	S1601P	probably damaging	Het
Arnt	A	G	3: 95,359,924 (GRCm39)	N56D	probably damaging	Het
Atad5	A	G	11: 79,986,715 (GRCm39)	T601A	probably benign	Het
Calr4	A	G	4: 109,103,379 (GRCm39)	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,195,491 (GRCm39)	A93S	probably damaging	Het
Cep135	C	T	5: 76,786,040 (GRCm39)	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,613,696 (GRCm39)		probably null	Het
Ddx60	T	C	8: 62,395,495 (GRCm39)	L144P	probably damaging	Het
Dera	A	T	6: 137,757,736 (GRCm39)	T96S	possibly damaging	Het
Erbb4	G	A	1: 68,383,080 (GRCm39)	R306*	probably null	Het
Glyat	G	T	19: 12,628,644 (GRCm39)	L146F	possibly damaging	Het
Grk4	C	A	5: 34,852,157 (GRCm39)	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,245,618 (GRCm39)	Q181R	probably benign	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Ipo4	C	T	14: 55,867,546 (GRCm39)		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,479,262 (GRCm39)		probably benign	Het
Kcnd2	A	G	6: 21,216,395 (GRCm39)	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,288,753 (GRCm39)	H504L	probably damaging	Het
Map4	A	G	9: 109,881,439 (GRCm39)	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,961,492 (GRCm39)	R707L	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myof	T	C	19: 37,911,438 (GRCm39)	N1511D	probably benign	Het
Neb	A	T	2: 52,176,167 (GRCm39)	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 95,203,774 (GRCm39)	T625A	probably damaging	Het
Or5g27	G	T	2: 85,409,964 (GRCm39)	C127F	probably damaging	Het
Pax2	A	G	19: 44,824,402 (GRCm39)	Y374C	unknown	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Pkhd1	A	T	1: 20,604,943 (GRCm39)	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,681 (GRCm39)	F189L	probably damaging	Het
Prex2	G	A	1: 11,254,769 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Slc22a22	T	A	15: 57,126,781 (GRCm39)	Q77L	probably damaging	Het
Slc24a2	A	T	4: 87,145,634 (GRCm39)	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,435,287 (GRCm39)	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Spag7	T	C	11: 70,555,816 (GRCm39)	I80M	probably damaging	Het
Srgap3	A	G	6: 112,758,015 (GRCm39)	M164T	probably damaging	Het
Sspo	A	T	6: 48,452,468 (GRCm39)		probably null	Het
Tcte2	T	C	17: 13,942,864 (GRCm39)		probably benign	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Tmtc4	T	C	14: 123,200,710 (GRCm39)	T194A	probably benign	Het
Ttc21b	T	C	2: 66,016,562 (GRCm39)	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,638,531 (GRCm39)	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,942,648 (GRCm39)	S608T	probably benign	Het
Zfp947	G	T	17: 22,365,124 (GRCm39)	Y183*	probably null	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
IGL02525:Dock9	APN	14	121,877,538 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTATCCAGTGAAGAACAGACAGGC -3'
(R):5'- TAACTCCGAGTTAGAGCCCC -3'

Sequencing Primer
(F):5'- CCAGTGAAGAACAGACAGGCAATTAC -3'
(R):5'- TATGGACGGCCTGCGTAAG -3'

Posted On

2015-09-24