Mutagenetix > Incidental Mutation

Incidental Mutation 'P0022:Dok7'

15803

Institutional Source

Beutler Lab

Gene Symbol

Dok7

Ensembl Gene

ENSMUSG00000044716

Gene Name

docking protein 7

Synonyms

Dok-7, A930013K19Rik, EF-12, Oit5

MMRRC Submission

038275-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

P0022 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

35214110-35245183 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35232755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 214 (P214L)

Ref Sequence

ENSEMBL: ENSMUSP00000109909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050709] [ENSMUST00000101298] [ENSMUST00000114270]

AlphaFold

Q18PE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000050709
AA Change: P177L

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

SMART Domains

Protein: ENSMUSP00000059538
Gene: ENSMUSG00000044716
AA Change: P177L

Domain	Start	End	E-Value	Type
IRS	73	168	3.15e-26	SMART
low complexity region	212	243	N/A	INTRINSIC
low complexity region	279	291	N/A	INTRINSIC
low complexity region	306	321	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101298
AA Change: P70L

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098856
Gene: ENSMUSG00000044716
AA Change: P70L

Domain	Start	End	E-Value	Type
Blast:PH	5	49	2e-11	BLAST
PDB:3ML4\|D	35	76	4e-20	PDB
low complexity region	105	136	N/A	INTRINSIC
low complexity region	172	184	N/A	INTRINSIC
low complexity region	199	214	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114270
AA Change: P214L

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

SMART Domains

Protein: ENSMUSP00000109909
Gene: ENSMUSG00000044716
AA Change: P214L

Domain	Start	End	E-Value	Type
PH	5	111	7.9e-3	SMART
IRS	110	205	3.15e-26	SMART
low complexity region	249	280	N/A	INTRINSIC
low complexity region	316	328	N/A	INTRINSIC
low complexity region	343	358	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155097

Meta Mutation Damage Score

0.2489

Coding Region Coverage

1x: 82.1%
3x: 71.1%
10x: 39.6%
20x: 16.7%

Validation Efficiency

86% (38/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in death shortly after birth, impaired neuromuscular synaptogenesis and akinesia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcat2	T	C	7: 45,237,769 (GRCm39)	V305A	probably damaging	Het
Cdc42bpa	A	G	1: 179,788,841 (GRCm39)	Y56C	probably damaging	Het
Mcf2l	A	T	8: 13,068,897 (GRCm39)	K1080*	probably null	Het
Mep1b	T	C	18: 21,221,598 (GRCm39)		probably benign	Het
Neurl4	G	A	11: 69,799,891 (GRCm39)	M1058I	possibly damaging	Het
Tet2	C	A	3: 133,192,654 (GRCm39)	M593I	probably benign	Het
Tubb4a	T	C	17: 57,388,538 (GRCm39)	I163V	probably benign	Het
Zc3h12a	T	A	4: 125,013,202 (GRCm39)	Y554F	possibly damaging	Het

Other mutations in Dok7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Dok7	APN	5	35,236,912 (GRCm39)	missense	possibly damaging	0.49
R0255:Dok7	UTSW	5	35,221,678 (GRCm39)	missense	probably damaging	1.00
R0462:Dok7	UTSW	5	35,223,806 (GRCm39)	missense	possibly damaging	0.88
R0536:Dok7	UTSW	5	35,223,826 (GRCm39)	missense	probably damaging	1.00
R0800:Dok7	UTSW	5	35,232,633 (GRCm39)	splice site	probably benign
R1533:Dok7	UTSW	5	35,221,671 (GRCm39)	splice site	probably null
R1659:Dok7	UTSW	5	35,236,483 (GRCm39)	missense	possibly damaging	0.55
R1772:Dok7	UTSW	5	35,243,994 (GRCm39)	missense	probably damaging	0.98
R1969:Dok7	UTSW	5	35,234,610 (GRCm39)	splice site	probably null
R4321:Dok7	UTSW	5	35,237,141 (GRCm39)	utr 3 prime	probably benign
R5864:Dok7	UTSW	5	35,223,890 (GRCm39)	missense	probably damaging	1.00
R6047:Dok7	UTSW	5	35,236,651 (GRCm39)	missense	probably damaging	1.00
R6773:Dok7	UTSW	5	35,234,528 (GRCm39)	missense	probably damaging	1.00
R7003:Dok7	UTSW	5	35,236,899 (GRCm39)	missense	probably benign	0.06
R7129:Dok7	UTSW	5	35,236,392 (GRCm39)	missense	probably damaging	1.00
R7326:Dok7	UTSW	5	35,221,866 (GRCm39)	missense	probably benign	0.11
R7399:Dok7	UTSW	5	35,223,815 (GRCm39)	missense	probably damaging	1.00
R7712:Dok7	UTSW	5	35,223,866 (GRCm39)	missense	probably damaging	1.00
R7851:Dok7	UTSW	5	35,214,280 (GRCm39)	start codon destroyed	probably null	0.04
R8127:Dok7	UTSW	5	35,244,345 (GRCm39)	missense	probably benign
R8772:Dok7	UTSW	5	35,234,593 (GRCm39)	missense	probably damaging	1.00
R9028:Dok7	UTSW	5	35,236,819 (GRCm39)	missense	probably damaging	1.00
R9272:Dok7	UTSW	5	35,214,239 (GRCm39)	start gained	probably benign

Posted On

2013-01-04