Mutagenetix > Incidental Mutation

Incidental Mutation 'R4423:Dock9'

327232

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, B230309H04Rik, Zizimin1

MMRRC Submission

041143-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4423 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

121779458-122035249 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 121799465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148328 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000040700

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558

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 null
Transcript: ENSMUST00000040700

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558

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 null
Transcript: ENSMUST00000100299

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558

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 null
Transcript: ENSMUST00000100299

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558

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 null
Transcript: ENSMUST00000212181

Predicted Effect

probably null
Transcript: ENSMUST00000212181

Predicted Effect

probably null
Transcript: ENSMUST00000212283

Predicted Effect

probably null
Transcript: ENSMUST00000212376

Predicted Effect

probably null
Transcript: ENSMUST00000212376

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	A	10: 100,441,495 (GRCm39)	P100Q	probably damaging	Het
A630010A05Rik	A	G	16: 14,436,577 (GRCm39)	Y210C	probably benign	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Arhgef9	T	G	X: 94,144,670 (GRCm39)	I131L	possibly damaging	Het
Asgr2	G	A	11: 69,996,211 (GRCm39)	V218I	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfap144	A	T	11: 58,687,357 (GRCm39)		probably null	Het
Cnot10	T	A	9: 114,446,988 (GRCm39)	I363F	probably damaging	Het
Coch	T	A	12: 51,644,932 (GRCm39)		probably null	Het
Dnah1	C	T	14: 31,006,718 (GRCm39)	G2199D	probably benign	Het
Dst	T	C	1: 34,227,474 (GRCm39)	I1689T	possibly damaging	Het
Eif2ak4	T	C	2: 118,269,547 (GRCm39)	F762S	probably benign	Het
Eif2b5	A	G	16: 20,320,469 (GRCm39)	D195G	probably benign	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Far1	T	A	7: 113,139,805 (GRCm39)	S84R	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Galnt15	A	T	14: 31,780,226 (GRCm39)	I508F	possibly damaging	Het
Grik1	T	C	16: 87,720,088 (GRCm39)	T745A	probably benign	Het
Hira	A	G	16: 18,774,952 (GRCm39)	D959G	possibly damaging	Het
Hsf5	T	C	11: 87,522,460 (GRCm39)	L351P	probably damaging	Het
Icosl	C	T	10: 77,907,707 (GRCm39)	T89I	possibly damaging	Het
Iws1	T	A	18: 32,216,503 (GRCm39)	N414K	probably damaging	Het
Kif1b	A	G	4: 149,298,562 (GRCm39)	S1035P	probably damaging	Het
Lcp2	G	T	11: 34,028,226 (GRCm39)		probably benign	Het
Map4	C	T	9: 109,896,662 (GRCm39)	T631I	probably damaging	Het
Nepn	T	A	10: 52,267,911 (GRCm39)	I59N	probably damaging	Het
Nin	T	A	12: 70,089,752 (GRCm39)	K1221M	probably damaging	Het
Nup155	A	G	15: 8,150,948 (GRCm39)	T333A	probably damaging	Het
Or10d4c	A	G	9: 39,558,412 (GRCm39)	Y130C	probably damaging	Het
Or52h9	T	C	7: 104,202,552 (GRCm39)	V142A	probably benign	Het
Or8b43	A	G	9: 38,360,662 (GRCm39)	T165A	probably benign	Het
Plod2	T	C	9: 92,484,042 (GRCm39)	L502S	probably benign	Het
Pnpt1	A	G	11: 29,103,375 (GRCm39)		probably null	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkcq	T	C	2: 11,260,980 (GRCm39)	I344T	possibly damaging	Het
Rbl1	A	G	2: 157,010,875 (GRCm39)		probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sec62	T	C	3: 30,868,431 (GRCm39)	M220T	unknown	Het
Shprh	T	G	10: 11,062,262 (GRCm39)	V1219G	possibly damaging	Het
Slc25a46	T	C	18: 31,742,651 (GRCm39)	T72A	probably benign	Het
Slc4a2	G	A	5: 24,644,846 (GRCm39)	W1040*	probably null	Het
Slc5a1	T	C	5: 33,312,018 (GRCm39)	V470A	possibly damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Trpm2	T	C	10: 77,770,902 (GRCm39)	D678G	probably benign	Het
Tut7	T	C	13: 59,969,863 (GRCm39)	K11E	probably damaging	Het
Ube3a	T	C	7: 58,925,861 (GRCm39)	I234T	probably benign	Het
Vmn2r57	T	C	7: 41,076,064 (GRCm39)	K483E	probably damaging	Het
Wnk1	T	A	6: 119,903,387 (GRCm39)	S2111C	probably 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
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
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'- GGATGAGACCCTACCAGTTCAAG -3'
(R):5'- GTCGTGCATCATGAATTCCACC -3'

Sequencing Primer
(F):5'- CCTACCAGTTCAAGACAGAGGTG -3'
(R):5'- ACCGCAAGCAGCCTTTG -3'

Posted On

2015-07-07