Mutagenetix > Incidental Mutation

Incidental Mutation 'R0800:Dok7'

76228

Institutional Source

Beutler Lab

Gene Symbol

Dok7

Ensembl Gene

ENSMUSG00000044716

Gene Name

docking protein 7

Synonyms

Dok-7, A930013K19Rik, EF-12, Oit5

MMRRC Submission

038980-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0800 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

35214110-35245183 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 35232633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109909 (fasta)

Gene Model

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

AlphaFold

Q18PE0

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 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 benign
Transcript: ENSMUST00000114270

SMART Domains

Protein: ENSMUSP00000109909
Gene: ENSMUSG00000044716

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B230217C12Rik	T	C	11: 97,732,086 (GRCm39)		probably benign	Het
Cacna1g	T	C	11: 94,317,265 (GRCm39)	D1498G	probably damaging	Het
Ces3b	T	A	8: 105,811,901 (GRCm39)	D103E	possibly damaging	Het
Chd5	A	G	4: 152,440,614 (GRCm39)	Y158C	probably damaging	Het
Cic	A	G	7: 24,984,662 (GRCm39)	T1033A	probably benign	Het
Cst13	A	T	2: 148,672,247 (GRCm39)	I141F	possibly damaging	Het
Dnah7a	A	G	1: 53,604,855 (GRCm39)	L1301P	probably damaging	Het
Dnah8	T	A	17: 30,923,636 (GRCm39)	F1201L	probably benign	Het
Dzip3	A	G	16: 48,774,171 (GRCm39)		probably benign	Het
Eml6	A	G	11: 29,699,877 (GRCm39)	V1753A	probably benign	Het
Fer1l4	A	G	2: 155,887,583 (GRCm39)	F538L	possibly damaging	Het
Fmo2	C	T	1: 162,704,383 (GRCm39)	D508N	probably benign	Het
Gabpb1	A	T	2: 126,472,248 (GRCm39)	Y351N	probably damaging	Het
Gnaq	T	A	19: 16,312,428 (GRCm39)	V230E	probably damaging	Het
Gprc5c	A	C	11: 114,757,537 (GRCm39)	K48Q	probably damaging	Het
Gzmd	A	G	14: 56,369,948 (GRCm39)	L11P	unknown	Het
Hbq1b	A	C	11: 32,237,581 (GRCm39)	H123P	probably damaging	Het
Hibadh	T	A	6: 52,533,490 (GRCm39)	I209F	probably damaging	Het
Il17f	G	T	1: 20,848,177 (GRCm39)	C100*	probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Itga8	A	T	2: 12,198,362 (GRCm39)	V541E	possibly damaging	Het
Kifc5b	T	A	17: 27,142,158 (GRCm39)	V212D	probably benign	Het
Klra2	A	T	6: 131,207,137 (GRCm39)	Y157*	probably null	Het
Kprp	T	C	3: 92,732,342 (GRCm39)	Y236C	unknown	Het
Mmp12	A	T	9: 7,357,827 (GRCm39)	M414L	possibly damaging	Het
Myh6	A	G	14: 55,190,735 (GRCm39)		probably benign	Het
Nlgn2	A	G	11: 69,716,823 (GRCm39)	F573L	possibly damaging	Het
Or10j7	C	T	1: 173,011,627 (GRCm39)	A125T	probably damaging	Het
Or4c124	A	G	2: 89,156,008 (GRCm39)	V172A	probably benign	Het
Pakap	T	A	4: 57,709,650 (GRCm39)	D198E	probably benign	Het
Papss1	T	A	3: 131,305,615 (GRCm39)		probably benign	Het
Parp4	A	G	14: 56,827,408 (GRCm39)	T181A	probably benign	Het
Piwil2	A	T	14: 70,646,486 (GRCm39)		probably benign	Het
Pla2g12b	A	G	10: 59,239,642 (GRCm39)	N17S	probably benign	Het
Polr3c	C	A	3: 96,626,627 (GRCm39)	V266L	probably damaging	Het
Pou3f3	A	G	1: 42,737,527 (GRCm39)	T408A	probably damaging	Het
Pskh1	A	G	8: 106,640,238 (GRCm39)	Y306C	probably damaging	Het
Rom1	T	A	19: 8,906,272 (GRCm39)	D89V	probably damaging	Het
Sell	T	A	1: 163,893,770 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,178,249 (GRCm39)		probably null	Het
Speg	T	C	1: 75,400,133 (GRCm39)	S2527P	probably damaging	Het
Stat3	A	G	11: 100,784,981 (GRCm39)		probably benign	Het
Stra6l	A	G	4: 45,882,797 (GRCm39)	T503A	probably benign	Het
Tapbp	A	G	17: 34,145,227 (GRCm39)	T375A	probably benign	Het
Tgm6	G	A	2: 129,985,342 (GRCm39)	V382M	possibly damaging	Het
Trappc9	A	T	15: 72,824,981 (GRCm39)		probably benign	Het
Txlnb	A	G	10: 17,675,240 (GRCm39)	N131S	possibly damaging	Het
Usp19	A	G	9: 108,372,353 (GRCm39)	E469G	probably damaging	Het
Vmn2r17	T	A	5: 109,575,192 (GRCm39)		probably benign	Het
Zfp750	T	C	11: 121,402,838 (GRCm39)	T637A	probably benign	Het
Zhx2	A	C	15: 57,686,124 (GRCm39)	I498L	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCGCTTGACAGCAGAGAGATAC -3'
(R):5'- TTGCTAGGCTGATGAAGCAGGTTAC -3'

Sequencing Primer
(F):5'- CTTGACAGCAGAGAGATACAAGGG -3'
(R):5'- AAGCAGGTTACCCATTTCTGGAC -3'

Posted On

2013-10-16