Mutagenetix > Incidental Mutation

Incidental Mutation 'R1430:Dock11'

161511

Institutional Source

Beutler Lab

Gene Symbol

Dock11

Ensembl Gene

ENSMUSG00000031093

Gene Name

dedicator of cytokinesis 11

Synonyms

5033414A21Rik, Zizimin2

MMRRC Submission

039486-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R1430 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

35152485-35340215 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35333565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2010 (I2010V)

Ref Sequence

ENSEMBL: ENSMUSP00000033419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033419] [ENSMUST00000115264] [ENSMUST00000115266]

AlphaFold

A2AF47

Predicted Effect

probably benign
Transcript: ENSMUST00000033419
AA Change: I2010V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033419
Gene: ENSMUSG00000031093
AA Change: I2010V

Domain	Start	End	E-Value	Type
Pfam:DUF3398	52	145	4.2e-39	PFAM
PH	166	274	1.4e-17	SMART
Blast:PH	329	440	4e-58	BLAST
Pfam:DOCK-C2	636	827	2.4e-53	PFAM
low complexity region	1254	1270	N/A	INTRINSIC
Pfam:DHR-2	1510	2029	7.3e-210	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115264
AA Change: I502V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110919
Gene: ENSMUSG00000031093
AA Change: I502V

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	184	192	N/A	INTRINSIC
Pfam:Ded_cyto	344	521	1.6e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115266
AA Change: I1839V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110921
Gene: ENSMUSG00000031093
AA Change: I1839V

Domain	Start	End	E-Value	Type
PH	1	90	6.82e-7	SMART
Blast:PH	145	256	5e-58	BLAST
Pfam:DOCK-C2	451	644	1.3e-60	PFAM
low complexity region	1083	1099	N/A	INTRINSIC
low complexity region	1521	1529	N/A	INTRINSIC
Pfam:Ded_cyto	1681	1858	1.2e-68	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,204,287 (GRCm39)		probably benign	Het
Aoc2	A	G	11: 101,217,321 (GRCm39)	Y468C	probably damaging	Het
Cdyl2	A	G	8: 117,306,056 (GRCm39)		probably benign	Het
Cfh	A	G	1: 140,030,436 (GRCm39)		probably benign	Het
Cyp2j9	G	T	4: 96,472,201 (GRCm39)		probably benign	Het
Dapk1	T	G	13: 60,901,957 (GRCm39)	F929V	probably benign	Het
Dhx9	A	T	1: 153,359,493 (GRCm39)	M35K	probably benign	Het
Dnah5	G	A	15: 28,346,003 (GRCm39)	E2448K	probably benign	Het
Doc2b	A	T	11: 75,670,981 (GRCm39)	C217S	possibly damaging	Het
Dram1	T	C	10: 88,160,641 (GRCm39)	T227A	possibly damaging	Het
Eppin	G	A	2: 164,431,323 (GRCm39)	T101M	probably damaging	Het
F13a1	T	C	13: 37,082,105 (GRCm39)	D533G	probably damaging	Het
Fmo1	C	A	1: 162,667,293 (GRCm39)	R174L	probably damaging	Het
Fsip2	C	A	2: 82,828,407 (GRCm39)	L6735I	possibly damaging	Het
Gab1	G	T	8: 81,515,241 (GRCm39)	T359K	probably benign	Het
Ggta1	T	C	2: 35,298,029 (GRCm39)	D118G	possibly damaging	Het
Gramd1a	A	G	7: 30,832,211 (GRCm39)	S609P	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrrc24	G	T	15: 76,607,992 (GRCm39)		probably null	Het
Mak	C	A	13: 41,223,760 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,063,768 (GRCm39)	R2708Q	possibly damaging	Het
Mettl24	T	C	10: 40,613,791 (GRCm39)	C177R	probably damaging	Het
Mgam	G	C	6: 40,733,305 (GRCm39)	E812D	probably benign	Het
Mroh8	T	C	2: 157,111,445 (GRCm39)	R170G	possibly damaging	Het
Msn	G	A	X: 95,196,325 (GRCm39)	V130I	probably benign	Het
Ncoa4	G	A	14: 31,898,679 (GRCm39)	V500I	probably benign	Het
Or2aj5	A	G	16: 19,424,752 (GRCm39)	L222P	probably damaging	Het
Or2y1b	A	G	11: 49,208,928 (GRCm39)		probably null	Het
Or5an6	C	T	19: 12,371,801 (GRCm39)	T58I	probably benign	Het
Or8k3b	T	C	2: 86,520,866 (GRCm39)	Y151C	possibly damaging	Het
Ppm1h	T	C	10: 122,693,004 (GRCm39)	S302P	probably damaging	Het
Prkce	T	A	17: 86,866,565 (GRCm39)		probably benign	Het
Psenen	T	C	7: 30,261,815 (GRCm39)	I34V	probably benign	Het
Rbl1	T	C	2: 157,011,826 (GRCm39)	T710A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc1a5	A	G	7: 16,516,328 (GRCm39)	D168G	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Syce1	A	T	7: 140,359,351 (GRCm39)		probably benign	Het
Tbc1d23	G	T	16: 57,034,573 (GRCm39)	D75E	probably damaging	Het
Tbk1	A	G	10: 121,395,839 (GRCm39)	V418A	probably benign	Het
Tmem132e	T	C	11: 82,329,122 (GRCm39)	V467A	probably damaging	Het
Tmem241	T	C	18: 12,126,651 (GRCm39)	D144G	probably benign	Het
Tsc2	A	G	17: 24,817,997 (GRCm39)		probably null	Het
Ubxn4	T	A	1: 128,202,617 (GRCm39)	F420I	probably benign	Het
Usp34	A	G	11: 23,409,151 (GRCm39)	T2645A	probably damaging	Het
Utp14b	A	G	1: 78,644,111 (GRCm39)	K670E	probably benign	Het
Zfp407	C	T	18: 84,227,580 (GRCm39)	V2010M	probably benign	Het
Zfp879	A	G	11: 50,724,784 (GRCm39)	F91L	probably benign	Het
Zfyve26	A	G	12: 79,329,591 (GRCm39)	S532P	probably benign	Het

Other mutations in Dock11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Dock11	APN	X	35,258,087 (GRCm39)	missense	probably benign	0.15
IGL00650:Dock11	APN	X	35,270,246 (GRCm39)	splice site	probably benign
IGL00769:Dock11	APN	X	35,267,715 (GRCm39)	missense	possibly damaging	0.74
IGL00963:Dock11	APN	X	35,296,035 (GRCm39)	missense	possibly damaging	0.63
IGL01389:Dock11	APN	X	35,256,701 (GRCm39)	missense	probably benign	0.43
IGL01410:Dock11	APN	X	35,301,296 (GRCm39)	missense	probably damaging	1.00
IGL01519:Dock11	APN	X	35,227,006 (GRCm39)	missense	probably benign
IGL02023:Dock11	APN	X	35,232,422 (GRCm39)	missense	probably benign	0.09
IGL02253:Dock11	APN	X	35,304,781 (GRCm39)	missense	probably damaging	1.00
IGL02416:Dock11	APN	X	35,283,739 (GRCm39)	missense	probably damaging	0.97
IGL02583:Dock11	APN	X	35,270,370 (GRCm39)	missense	possibly damaging	0.48
IGL03014:Dock11	APN	X	35,310,699 (GRCm39)	splice site	probably benign
IGL03037:Dock11	APN	X	35,310,699 (GRCm39)	splice site	probably benign
IGL03065:Dock11	APN	X	35,310,699 (GRCm39)	splice site	probably benign
IGL03277:Dock11	APN	X	35,277,603 (GRCm39)	missense	probably benign	0.32
R0816:Dock11	UTSW	X	35,283,688 (GRCm39)	missense	probably damaging	1.00
R0819:Dock11	UTSW	X	35,283,688 (GRCm39)	missense	probably damaging	1.00
R0820:Dock11	UTSW	X	35,283,688 (GRCm39)	missense	probably damaging	1.00
R1512:Dock11	UTSW	X	35,283,688 (GRCm39)	missense	probably damaging	1.00
Z1088:Dock11	UTSW	X	35,266,186 (GRCm39)	missense	probably benign	0.01
Z1176:Dock11	UTSW	X	35,248,501 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- GTCCCTAGTCCTACCAGGCCAAA -3'
(R):5'- TGCCCACTGTAGCACATATACAACAC -3'

Sequencing Primer
(F):5'- acccacctgtttctacctcc -3'
(R):5'- TGTAGCACATATACAACACATAGC -3'

Posted On

2014-03-14