Mutagenetix > Incidental Mutation

Incidental Mutation 'R4021:Dock9'

313261

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, B230309H04Rik, Zizimin1

MMRRC Submission

040955-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4021 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

121779458-122035249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121864324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 761 (K761E)

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 benign
Transcript: ENSMUST00000040700
AA Change: K759E

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: K759E

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

possibly damaging
Transcript: ENSMUST00000100299
AA Change: K761E

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: K761E

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: K759E

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212376
AA Change: K773E

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1297

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,685,148 (GRCm39)	L102P	probably benign	Het
Adcy4	C	T	14: 56,012,635 (GRCm39)		probably null	Het
Adgrf5	A	T	17: 43,741,605 (GRCm39)		probably benign	Het
Atp11a	A	G	8: 12,892,938 (GRCm39)	K643R	probably benign	Het
Cacna2d2	C	T	9: 107,391,257 (GRCm39)	T428M	probably damaging	Het
Cdh22	T	C	2: 164,985,593 (GRCm39)	D331G	possibly damaging	Het
Chmp3	T	C	6: 71,551,222 (GRCm39)		probably null	Het
Csnk2a1	C	T	2: 152,100,609 (GRCm39)	T127M	probably damaging	Het
Cyp2c55	T	A	19: 39,023,878 (GRCm39)		probably null	Het
Ddias	G	T	7: 92,510,686 (GRCm39)	D105E	possibly damaging	Het
Dnajb11	A	G	16: 22,688,196 (GRCm39)	D238G	probably damaging	Het
Dock7	T	C	4: 98,892,157 (GRCm39)		probably null	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Fam107b	G	A	2: 3,779,511 (GRCm39)	R238Q	probably damaging	Het
Fam186a	G	C	15: 99,839,680 (GRCm39)	T2188S	possibly damaging	Het
Farsa	A	G	8: 85,595,499 (GRCm39)	T465A	probably damaging	Het
Fibp	T	C	19: 5,510,762 (GRCm39)		probably null	Het
Flywch2	G	A	17: 23,996,013 (GRCm39)	T128I	possibly damaging	Het
Foxi2	A	T	7: 135,012,259 (GRCm39)	D49V	probably damaging	Het
Fstl5	A	G	3: 76,536,282 (GRCm39)	T31A	probably benign	Het
Gabbr2	G	A	4: 46,846,435 (GRCm39)	T158I	probably damaging	Het
Gbp4	T	A	5: 105,268,789 (GRCm39)	R455W	probably damaging	Het
Got2	T	G	8: 96,604,381 (GRCm39)	D69A	probably damaging	Het
Gpr63	T	C	4: 25,008,470 (GRCm39)	F398S	possibly damaging	Het
Gtf2h4	T	C	17: 35,981,556 (GRCm39)	M186V	probably benign	Het
Haus2	A	T	2: 120,446,411 (GRCm39)	Q111L	probably damaging	Het
Hexd	T	C	11: 121,108,987 (GRCm39)		probably null	Het
Igf2r	T	A	17: 12,967,638 (GRCm39)	N27I	probably damaging	Het
Itgax	T	A	7: 127,732,311 (GRCm39)		probably null	Het
Krit1	T	A	5: 3,882,132 (GRCm39)	I596K	probably benign	Het
Lair1	A	G	7: 4,058,915 (GRCm39)		probably null	Het
Lilra6	G	T	7: 3,914,417 (GRCm39)	T276K	probably benign	Het
Mast4	G	A	13: 102,875,829 (GRCm39)	R1112*	probably null	Het
Mrgprb1	A	T	7: 48,096,871 (GRCm39)	I347N	possibly damaging	Het
Mroh2b	T	A	15: 4,954,582 (GRCm39)	C682S	possibly damaging	Het
Mtif3	T	A	5: 146,892,488 (GRCm39)	R249S	possibly damaging	Het
Mycbp2	C	T	14: 103,389,593 (GRCm39)	E3406K	probably damaging	Het
Myo15b	A	G	11: 115,764,331 (GRCm39)	H1315R	probably benign	Het
Nlrp2	A	G	7: 5,328,011 (GRCm39)	F681L	probably benign	Het
Or2ag19	T	A	7: 106,444,226 (GRCm39)	M136K	probably damaging	Het
Or5l14	T	A	2: 87,793,066 (GRCm39)	T57S	possibly damaging	Het
Pear1	T	C	3: 87,663,529 (GRCm39)	N390D	possibly damaging	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Rnf17	C	T	14: 56,697,458 (GRCm39)	H451Y	probably damaging	Het
Sag	A	T	1: 87,749,027 (GRCm39)		probably null	Het
Septin4	A	G	11: 87,458,106 (GRCm39)	E160G	probably damaging	Het
Slc22a2	T	C	17: 12,803,376 (GRCm39)	L70P	probably damaging	Het
Slc32a1	C	T	2: 158,453,152 (GRCm39)		probably benign	Het
Spag17	A	T	3: 99,956,546 (GRCm39)	I881F	probably benign	Het
Taar7a	G	T	10: 23,869,284 (GRCm39)	N32K	probably benign	Het
Tbck	C	A	3: 132,432,895 (GRCm39)	T435K	probably damaging	Het
Tril	T	G	6: 53,796,004 (GRCm39)	D406A	probably damaging	Het
Tshz2	G	A	2: 169,727,782 (GRCm39)	D324N	probably damaging	Het
Vps13d	A	G	4: 144,801,631 (GRCm39)	V2349A	possibly damaging	Het
Wdr6	A	G	9: 108,452,405 (GRCm39)	W493R	probably damaging	Het
Wdr72	G	A	9: 74,058,875 (GRCm39)	V323I	probably benign	Het
Zfp488	T	A	14: 33,693,110 (GRCm39)	M18L	probably benign	Het
Zic4	A	G	9: 91,261,089 (GRCm39)	T108A	probably benign	Het
Znrf3	T	C	11: 5,231,278 (GRCm39)	D745G	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AAACCAAGTGTCGGGACTG -3'
(R):5'- AACTTGCTGGTGGTCTGACC -3'

Sequencing Primer
(F):5'- TGTCGGGACTGATAAAAATCCTGC -3'
(R):5'- CTGGATGTCAGAGGCTATCTCAAG -3'

Posted On

2015-04-30