Mutagenetix > Incidental Mutation

Incidental Mutation 'R6719:Dock9'

529509

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, B230309H04Rik, Zizimin1

MMRRC Submission

044837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6719 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121779458-122035249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121847439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1025 (I1025N)

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 damaging
Transcript: ENSMUST00000040700
AA Change: I1025N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: I1025N

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: I1027N

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

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: I1027N

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: I1025N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212376
AA Change: I1039N

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	C	19: 42,041,151 (GRCm39)	I94T	possibly damaging	Het
Afp	T	A	5: 90,651,562 (GRCm39)	N392K	probably benign	Het
Asrgl1	C	T	19: 9,090,512 (GRCm39)	G278D	probably damaging	Het
Atp2c1	T	C	9: 105,301,377 (GRCm39)	I611V	probably damaging	Het
Avl9	A	G	6: 56,730,370 (GRCm39)	Y571C	probably damaging	Het
Clrn1	A	T	3: 58,753,861 (GRCm39)	C167S	probably damaging	Het
Ctsr	C	T	13: 61,308,265 (GRCm39)	G293D	possibly damaging	Het
Dmbt1	T	A	7: 130,721,332 (GRCm39)	S1867T	possibly damaging	Het
Dppa4	G	A	16: 48,108,247 (GRCm39)	A11T	probably damaging	Het
Duox2	T	A	2: 122,114,867 (GRCm39)		probably null	Het
Fat3	A	G	9: 15,907,440 (GRCm39)	L2854P	probably benign	Het
Fcer1a	A	G	1: 173,050,340 (GRCm39)	S61P	possibly damaging	Het
Fyb2	A	T	4: 104,867,656 (GRCm39)	D669V	probably benign	Het
Herc2	G	T	7: 55,862,574 (GRCm39)	C4081F	probably damaging	Het
Hexim1	T	C	11: 103,008,091 (GRCm39)	L115P	probably benign	Het
Kat2a	T	G	11: 100,602,967 (GRCm39)	Q88H	probably benign	Het
Lrriq1	T	C	10: 102,906,977 (GRCm39)	Y1581C	probably damaging	Het
Ltbp4	T	G	7: 27,028,188 (GRCm39)	D323A	probably damaging	Het
Mark3	T	A	12: 111,581,876 (GRCm39)	I115K	probably damaging	Het
Nudt9	A	G	5: 104,209,562 (GRCm39)	D271G	probably damaging	Het
Or2a54	T	A	6: 43,092,907 (GRCm39)	V77D	probably damaging	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pcdha5	T	C	18: 37,093,925 (GRCm39)	S145P	probably damaging	Het
Pzp	T	C	6: 128,501,046 (GRCm39)	E104G	probably benign	Het
Rho	T	C	6: 115,910,854 (GRCm39)	I133T	possibly damaging	Het
Sall3	G	T	18: 81,014,721 (GRCm39)	T997K	probably damaging	Het
Scn8a	A	T	15: 100,908,896 (GRCm39)		probably null	Het
Sfxn1	T	A	13: 54,260,583 (GRCm39)	H310Q	probably benign	Het
Slc25a18	A	G	6: 120,765,215 (GRCm39)	D92G	probably damaging	Het
Slc26a9	T	C	1: 131,689,523 (GRCm39)	I490T	probably benign	Het
Terf1	T	C	1: 15,908,460 (GRCm39)	V351A	probably benign	Het
Thsd7b	A	G	1: 130,087,451 (GRCm39)		probably null	Het
Trgj2	A	G	13: 19,495,426 (GRCm39)		probably benign	Het
Tti1	A	T	2: 157,824,220 (GRCm39)	C1078S	probably benign	Het
Ttll3	A	G	6: 113,375,993 (GRCm39)		probably benign	Het
Tubb1	A	C	2: 174,299,187 (GRCm39)	T290P	probably damaging	Het
Ugt2b35	G	T	5: 87,155,247 (GRCm39)	D361Y	probably damaging	Het
Zc2hc1c	T	C	12: 85,337,446 (GRCm39)	S368P	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
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
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'- ATCTGCTTGAAGACGAAGCC -3'
(R):5'- TCATCCTAAGTGATGGGTTTGAATC -3'

Sequencing Primer
(F):5'- TTGAAGACGAAGCCTCTGTC -3'
(R):5'- GAATCCTTTCAGTTACTGCGGAAC -3'

Posted On

2018-08-01