Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02253:Dock11'

286510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dock11

Ensembl Gene

ENSMUSG00000031093

Gene Name

dedicator of cytokinesis 11

Synonyms

5033414A21Rik, Zizimin2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

IGL02253

Quality Score

Status

Chromosome

Chromosomal Location

35152485-35340215 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35304781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1472 (F1472S)

Ref Sequence

ENSEMBL: ENSMUSP00000033419 (fasta)

Gene Model

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

AlphaFold

A2AF47

Predicted Effect

probably damaging
Transcript: ENSMUST00000033419
AA Change: F1472S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033419
Gene: ENSMUSG00000031093
AA Change: F1472S

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

SMART Domains

Protein: ENSMUSP00000110919
Gene: ENSMUSG00000031093

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

possibly damaging
Transcript: ENSMUST00000115266
AA Change: F1301S

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110921
Gene: ENSMUSG00000031093
AA Change: F1301S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,807,182 (GRCm39)	E76G	probably benign	Het
Adamtsl2	A	T	2: 26,988,709 (GRCm39)	T587S	possibly damaging	Het
Adgre4	T	A	17: 56,067,573 (GRCm39)	M9K	probably benign	Het
Aff2	T	A	X: 68,874,397 (GRCm39)	V447E	probably benign	Het
Arhgef10l	G	T	4: 140,271,595 (GRCm39)	S425*	probably null	Het
Cabcoco1	T	C	10: 68,272,107 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,707,523 (GRCm39)	H259L	probably benign	Het
Cdc42bpa	T	A	1: 179,859,161 (GRCm39)		probably benign	Het
Cntnap5b	C	T	1: 100,091,936 (GRCm39)	H540Y	possibly damaging	Het
Cyp2a22	A	T	7: 26,637,662 (GRCm39)		probably benign	Het
Ddx3x	T	C	X: 13,151,207 (GRCm39)		probably benign	Het
Dnajc11	T	A	4: 152,034,976 (GRCm39)	Y28*	probably null	Het
Dusp18	T	C	11: 3,847,576 (GRCm39)	*189Q	probably null	Het
Dzip3	A	T	16: 48,765,287 (GRCm39)	Y476N	probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Evc2	T	A	5: 37,535,771 (GRCm39)		probably benign	Het
Fam151b	A	T	13: 92,614,435 (GRCm39)	Y18N	probably damaging	Het
Gk5	T	C	9: 96,019,824 (GRCm39)	F120S	probably damaging	Het
Itprid2	A	G	2: 79,490,788 (GRCm39)	T969A	probably damaging	Het
Kcna3	T	C	3: 106,944,727 (GRCm39)	L330P	probably damaging	Het
Kctd20	A	G	17: 29,180,460 (GRCm39)	N7S	probably benign	Het
Kmt2b	G	T	7: 30,281,152 (GRCm39)	R1276S	probably damaging	Het
Kmt2d	C	T	15: 98,756,056 (GRCm39)		probably benign	Het
L2hgdh	G	A	12: 69,752,534 (GRCm39)		probably benign	Het
Lifr	T	G	15: 7,220,085 (GRCm39)	V905G	probably damaging	Het
Mcm3ap	T	A	10: 76,305,899 (GRCm39)	V4E	probably benign	Het
Nrip3	A	C	7: 109,360,951 (GRCm39)		probably null	Het
Nsun2	T	G	13: 69,767,658 (GRCm39)	V204G	possibly damaging	Het
Nup54	A	G	5: 92,565,310 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,967,261 (GRCm39)	V188E	possibly damaging	Het
Or8c16	T	A	9: 38,131,031 (GRCm39)	M304K	probably benign	Het
Pdcl3	A	G	1: 39,034,011 (GRCm39)	D51G	probably benign	Het
Pdlim1	T	C	19: 40,218,974 (GRCm39)	E219G	probably damaging	Het
Pld4	A	C	12: 112,733,141 (GRCm39)	K239T	probably damaging	Het
Rgsl1	T	C	1: 153,669,513 (GRCm39)	Y291C	probably damaging	Het
Rnf213	C	A	11: 119,331,476 (GRCm39)	H2228Q	probably benign	Het
Rnf222	T	A	11: 68,783,862 (GRCm39)	I143N	probably damaging	Het
Sirt7	A	G	11: 120,511,693 (GRCm39)	I13T	probably benign	Het
Slfn10-ps	A	G	11: 82,919,890 (GRCm39)		noncoding transcript	Het
Slx4ip	T	C	2: 136,842,195 (GRCm39)		probably null	Het
Spata18	G	T	5: 73,825,939 (GRCm39)	S164I	possibly damaging	Het
Spmip2	C	A	3: 79,356,741 (GRCm39)		probably benign	Het
Spmip2	C	A	3: 79,356,742 (GRCm39)		probably benign	Het
Stk26	T	C	X: 49,975,565 (GRCm39)	L212P	probably damaging	Het
Tmsb15a	T	C	X: 134,620,451 (GRCm39)	I56V	probably benign	Het
Tnrc6b	T	A	15: 80,760,742 (GRCm39)	S150T	probably damaging	Het
Tubb3	T	C	8: 124,147,559 (GRCm39)	M164T	probably benign	Het
Zfp516	A	G	18: 83,012,622 (GRCm39)	D1125G	probably benign	Het
Zyg11a	A	C	4: 108,040,892 (GRCm39)	V685G	probably null	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
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
R1430:Dock11	UTSW	X	35,333,565 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16