Mutagenetix > Incidental Mutation

Incidental Mutation 'R7712:Dok7'

594671

Institutional Source

Beutler Lab

Gene Symbol

Dok7

Ensembl Gene

ENSMUSG00000044716

Gene Name

docking protein 7

Synonyms

Dok-7, A930013K19Rik, EF-12, Oit5

MMRRC Submission

045770-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35214110-35245183 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35223866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 98 (N98S)

Ref Sequence

ENSEMBL: ENSMUSP00000059538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050709] [ENSMUST00000101298] [ENSMUST00000114270] [ENSMUST00000133381]

AlphaFold

Q18PE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000050709
AA Change: N98S

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

SMART Domains

Protein: ENSMUSP00000059538
Gene: ENSMUSG00000044716
AA Change: N98S

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

probably benign
Transcript: ENSMUST00000101298

SMART Domains

Protein: ENSMUSP00000098856
Gene: ENSMUSG00000044716

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: N135S

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

SMART Domains

Protein: ENSMUSP00000109909
Gene: ENSMUSG00000044716
AA Change: N135S

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

probably benign
Transcript: ENSMUST00000133381

SMART Domains

Protein: ENSMUSP00000116023
Gene: ENSMUSG00000044716

Domain	Start	End	E-Value	Type
PDB:3ML4\|D	1	114	6e-77	PDB
Blast:PH	5	103	8e-65	BLAST
SCOP:d1qqga1	9	104	4e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	C	5: 114,303,799 (GRCm39)	D74A	probably benign	Het
Alox15	T	C	11: 70,241,079 (GRCm39)		probably null	Het
Ano5	A	G	7: 51,222,805 (GRCm39)	T455A	probably benign	Het
Ano5	T	G	7: 51,240,403 (GRCm39)	I827S	probably damaging	Het
Arid1a	G	A	4: 133,479,922 (GRCm39)	A334V	probably benign	Het
Atp13a4	A	G	16: 29,278,305 (GRCm39)	C298R		Het
Atp4a	T	A	7: 30,414,978 (GRCm39)	S256T	probably damaging	Het
Atp6v1c1	G	A	15: 38,687,049 (GRCm39)	V215I	probably benign	Het
Bbs9	T	A	9: 22,582,109 (GRCm39)	F600L	probably benign	Het
Bmp8b	A	T	4: 123,018,257 (GRCm39)	Y376F	possibly damaging	Het
Cacna2d1	A	T	5: 16,567,347 (GRCm39)	D986V	probably damaging	Het
Ccdc162	A	G	10: 41,503,223 (GRCm39)	F973S	possibly damaging	Het
Ccdc177	G	A	12: 80,804,712 (GRCm39)	Q521*	probably null	Het
Cd209b	T	A	8: 3,973,299 (GRCm39)	E158D	possibly damaging	Het
Cdk14	G	A	5: 5,430,061 (GRCm39)	T22I	possibly damaging	Het
Chl1	A	T	6: 103,688,063 (GRCm39)	I968F	possibly damaging	Het
Cnot7	T	C	8: 40,947,122 (GRCm39)	Y255C	probably damaging	Het
Col4a2	T	A	8: 11,475,376 (GRCm39)	L600H	probably benign	Het
Cpne7	C	A	8: 123,850,920 (GRCm39)	L129M	probably damaging	Het
Cpxm2	G	T	7: 131,756,107 (GRCm39)	P79Q	possibly damaging	Het
Dhx9	T	A	1: 153,340,747 (GRCm39)	N631I	probably benign	Het
Dmxl1	T	C	18: 50,026,528 (GRCm39)	S1879P	probably damaging	Het
Dnhd1	T	A	7: 105,300,831 (GRCm39)	F63I	probably benign	Het
Fgd2	A	G	17: 29,595,886 (GRCm39)	T515A	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gm5796	A	G	14: 15,379,960 (GRCm39)	Y90C	probably damaging	Het
H60b	C	A	10: 22,161,637 (GRCm39)	H42N	possibly damaging	Het
Hipk2	A	G	6: 38,680,569 (GRCm39)	S924P	probably benign	Het
Hpf1	C	A	8: 61,358,613 (GRCm39)	S27*	probably null	Het
Idua	T	G	5: 108,829,388 (GRCm39)	D443E	probably benign	Het
Lamc2	C	T	1: 153,009,357 (GRCm39)	G816D	possibly damaging	Het
Lgi3	T	A	14: 70,768,551 (GRCm39)	V16E	unknown	Het
Lpar1	T	A	4: 58,486,795 (GRCm39)	M159L	probably benign	Het
Magi2	A	G	5: 20,755,280 (GRCm39)	D618G	possibly damaging	Het
Man2b2	C	G	5: 36,967,658 (GRCm39)	Q903H	probably benign	Het
Marchf7	A	T	2: 60,065,334 (GRCm39)	K537*	probably null	Het
Mcoln1	T	C	8: 3,555,873 (GRCm39)	F56S	probably damaging	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myo1b	A	T	1: 51,832,836 (GRCm39)	M383K	probably damaging	Het
Or12k7	A	T	2: 36,958,916 (GRCm39)	T200S	probably damaging	Het
Or1f19	T	C	16: 3,410,295 (GRCm39)	F12L	probably damaging	Het
Or8a1b	T	C	9: 37,623,429 (GRCm39)	I49V	probably damaging	Het
Pars2	T	A	4: 106,511,276 (GRCm39)	Y353N	probably damaging	Het
Pcdha8	A	C	18: 37,125,737 (GRCm39)	D73A	possibly damaging	Het
Pcdhga8	C	T	18: 37,860,102 (GRCm39)	T386M	possibly damaging	Het
Pdzd2	G	T	15: 12,407,422 (GRCm39)	T346N	probably damaging	Het
Pik3c2b	A	G	1: 133,013,349 (GRCm39)	Q781R	probably damaging	Het
Pp2d1	T	A	17: 53,815,318 (GRCm39)	T469S	possibly damaging	Het
Sectm1a	G	A	11: 120,959,631 (GRCm39)	L166F	probably damaging	Het
Sgms1	T	A	19: 32,120,169 (GRCm39)	M246L	probably benign	Het
Shroom3	G	A	5: 93,098,806 (GRCm39)	G1429S	probably benign	Het
Snx17	T	A	5: 31,352,804 (GRCm39)	F101Y	probably damaging	Het
Sowahb	C	T	5: 93,191,240 (GRCm39)	S493N	probably benign	Het
Spc25	T	A	2: 69,036,481 (GRCm39)	R7S	unknown	Het
Sult2b1	A	G	7: 45,379,620 (GRCm39)	I308T	probably benign	Het
Tkt	A	G	14: 30,280,763 (GRCm39)	N65D	probably benign	Het
Ttc5	A	T	14: 51,010,769 (GRCm39)	S221T	probably benign	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Wipf1	A	C	2: 73,274,805 (GRCm39)	S55R	probably damaging	Het
Zdbf2	T	C	1: 63,344,530 (GRCm39)	S970P	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp362	A	T	4: 128,671,203 (GRCm39)	H313Q	probably benign	Het
Zfy2	T	A	Y: 2,121,420 (GRCm39)	I158F	probably benign	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
P0022:Dok7	UTSW	5	35,232,755 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGAGGAATGTTGCCTCTAC -3'
(R):5'- TGTTGCTTGGGGAAACAGC -3'

Sequencing Primer
(F):5'- GGAGGAATGTTGCCTCTACCCATC -3'
(R):5'- AATGCGTAGGCCCATCAG -3'

Posted On

2019-11-12