Mutagenetix > Incidental Mutation

Incidental Mutation 'R7851:Dok7'

606924

Institutional Source

Beutler Lab

Gene Symbol

Dok7

Ensembl Gene

ENSMUSG00000044716

Gene Name

docking protein 7

Synonyms

Dok-7, A930013K19Rik, EF-12, Oit5

MMRRC Submission

045904-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7851 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35214110-35245183 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 35214280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000098856 (fasta)

Gene Model

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

AlphaFold

Q18PE0

PDB Structure

Crystal structure of a complex between Dok7 PH-PTB and the MuSK juxtamembrane region [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000050709

SMART Domains

Protein: ENSMUSP00000059538
Gene: ENSMUSG00000044716

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 null
Transcript: ENSMUST00000101298
AA Change: M1K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000098856
Gene: ENSMUSG00000044716
AA Change: M1K

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 null
Transcript: ENSMUST00000114270
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109909
Gene: ENSMUSG00000044716
AA Change: M1K

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 null
Transcript: ENSMUST00000133381
AA Change: M1K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116023
Gene: ENSMUSG00000044716
AA Change: M1K

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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
Aarsd1	T	A	11: 101,300,838 (GRCm39)		probably null	Het
Abcc3	A	T	11: 94,250,486 (GRCm39)	L905*	probably null	Het
Adamts9	T	G	6: 92,885,687 (GRCm39)	D401A	probably damaging	Het
Ankmy1	T	C	1: 92,799,444 (GRCm39)	K918E	probably damaging	Het
Arfgef3	T	C	10: 18,468,034 (GRCm39)	N1722S	probably damaging	Het
Arhgef18	A	G	8: 3,498,409 (GRCm39)	I481V	possibly damaging	Het
Asxl3	T	C	18: 22,650,279 (GRCm39)	I756T	possibly damaging	Het
Atp6v0b	A	G	4: 117,743,062 (GRCm39)	F49S	probably damaging	Het
Baz2b	C	A	2: 59,767,060 (GRCm39)	E107D	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cd2ap	A	G	17: 43,135,363 (GRCm39)		probably null	Het
Cnn3	T	A	3: 121,250,992 (GRCm39)	Y304N	possibly damaging	Het
Cnot2	G	A	10: 116,373,337 (GRCm39)	S22L	possibly damaging	Het
Coq6	A	T	12: 84,418,929 (GRCm39)	H311L	possibly damaging	Het
Csf2rb2	T	C	15: 78,173,137 (GRCm39)	N350S	probably benign	Het
Dhrs9	T	A	2: 69,231,600 (GRCm39)	N253K	probably benign	Het
Eogt	T	A	6: 97,097,162 (GRCm39)	E313D	probably benign	Het
Etl4	T	C	2: 20,748,951 (GRCm39)	S430P	probably damaging	Het
Gfod2	T	A	8: 106,454,762 (GRCm39)	E39D	probably benign	Het
Gfral	T	C	9: 76,112,737 (GRCm39)	N65D	probably benign	Het
Gsdmc4	A	T	15: 63,774,595 (GRCm39)	L62*	probably null	Het
Gyg1	T	G	3: 20,176,911 (GRCm39)	M360L	probably benign	Het
Hsp90ab1	A	T	17: 45,881,378 (GRCm39)	S255T	probably benign	Het
Hyal6	T	A	6: 24,734,497 (GRCm39)	D143E	probably benign	Het
Ipp	C	T	4: 116,372,672 (GRCm39)	Q234*	probably null	Het
Ism1	A	T	2: 139,599,185 (GRCm39)	D386V	probably damaging	Het
Jrkl	T	C	9: 13,244,354 (GRCm39)	T436A	probably benign	Het
Mup3	A	C	4: 62,003,494 (GRCm39)	I125S	possibly damaging	Het
Myh6	T	A	14: 55,190,508 (GRCm39)	E1003V	possibly damaging	Het
Neb	T	A	2: 52,043,076 (GRCm39)	I6785F	probably benign	Het
Odad4	C	T	11: 100,436,655 (GRCm39)	T10I	probably damaging	Het
Or11g24	A	G	14: 50,662,827 (GRCm39)	T284A	probably damaging	Het
Or11h4b	A	G	14: 50,918,915 (GRCm39)	Y59H	probably damaging	Het
Or1j4	T	A	2: 36,740,428 (GRCm39)	Y123*	probably null	Het
Or2w25	T	C	11: 59,504,789 (GRCm39)	V333A	probably benign	Het
Or6c5c	G	T	10: 129,299,429 (GRCm39)	V295L	probably benign	Het
Pamr1	A	T	2: 102,416,945 (GRCm39)	T86S	probably benign	Het
Pced1a	A	T	2: 130,264,236 (GRCm39)	M168K	probably damaging	Het
Pigs	T	C	11: 78,227,613 (GRCm39)	L259P	probably damaging	Het
Plch1	T	C	3: 63,605,855 (GRCm39)	S1350G	probably damaging	Het
Prickle1	G	A	15: 93,398,440 (GRCm39)	T796I	possibly damaging	Het
Ptcd3	T	C	6: 71,879,843 (GRCm39)	I138M	probably damaging	Het
Ptprs	T	C	17: 56,732,482 (GRCm39)	E958G	probably benign	Het
Rcn3	A	T	7: 44,736,236 (GRCm39)	D157E	probably benign	Het
Rft1	T	C	14: 30,412,540 (GRCm39)	S534P	probably benign	Het
Ryr3	T	C	2: 112,508,862 (GRCm39)	T3371A	probably benign	Het
Scn10a	A	T	9: 119,446,828 (GRCm39)	V1399D	probably damaging	Het
Sec61a1	T	C	6: 88,489,147 (GRCm39)	T185A	probably benign	Het
Sgsm3	G	A	15: 80,894,954 (GRCm39)	V607M	probably damaging	Het
Smurf2	T	C	11: 106,721,752 (GRCm39)	Y581C	probably damaging	Het
Snx8	C	A	5: 140,343,914 (GRCm39)	V101L	probably damaging	Het
Sp100	A	T	1: 85,634,647 (GRCm39)	K180M	probably benign	Het
Spire2	T	A	8: 124,083,438 (GRCm39)		probably null	Het
St6galnac2	A	G	11: 116,576,764 (GRCm39)	S86P	probably benign	Het
Sybu	G	A	15: 44,609,852 (GRCm39)	Q139*	probably null	Het
Tas2r114	T	A	6: 131,666,888 (GRCm39)	I47F	probably damaging	Het
Tcf21	T	C	10: 22,695,747 (GRCm39)	D19G	probably benign	Het
Terb2	T	C	2: 122,016,794 (GRCm39)	F9L	probably damaging	Het
Tlr1	T	C	5: 65,082,307 (GRCm39)	T757A	possibly damaging	Het
Tmco1	C	T	1: 167,136,255 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,471,014 (GRCm39)	F1001S	probably damaging	Het
Vmn2r62	G	A	7: 42,438,539 (GRCm39)	T99I	probably benign	Het
Wdr7	A	T	18: 63,853,398 (GRCm39)	T33S	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
R7712:Dok7	UTSW	5	35,223,866 (GRCm39)	missense	probably damaging	1.00
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'- TAGGGTCTTAAAGACTGAGGCC -3'
(R):5'- TATTTCGGGAGAGCTGGCAC -3'

Sequencing Primer
(F):5'- CTTAAAGACTGAGGCCCGGGG -3'
(R):5'- ACCTCAGCCACCGGTTGTAG -3'

Posted On

2019-12-20