Mutagenetix > Incidental Mutation

Incidental Mutation 'R9272:Dok7'

703010

Institutional Source

Beutler Lab

Gene Symbol

Dok7

Ensembl Gene

ENSMUSG00000044716

Gene Name

docking protein 7

Synonyms

Dok-7, A930013K19Rik, EF-12, Oit5

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35214110-35245183 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 35214239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116023 (fasta)

Gene Model

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

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

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: 99.0%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	G	6: 146,854,499 (GRCm39)	V181A	probably damaging	Het
Abca16	T	A	7: 120,076,993 (GRCm39)	D686E	probably benign	Het
Abca8a	C	A	11: 109,953,908 (GRCm39)	C844F	probably damaging	Het
Acd	G	A	8: 106,424,952 (GRCm39)	P396L	probably damaging	Het
Adamtsl3	A	G	7: 82,189,753 (GRCm39)	Y659C	probably damaging	Het
Ankfn1	C	T	11: 89,413,875 (GRCm39)	V167M	probably benign	Het
Ankrd13c	T	A	3: 157,700,358 (GRCm39)	L393Q	possibly damaging	Het
Arid1b	G	A	17: 5,386,879 (GRCm39)	G1391D	possibly damaging	Het
Arid5b	T	A	10: 67,937,882 (GRCm39)	D415V	probably damaging	Het
Arl13b	G	T	16: 62,647,774 (GRCm39)	H45N	probably benign	Het
Atp13a4	A	T	16: 29,268,797 (GRCm39)	I519N		Het
Atrnl1	T	C	19: 57,643,420 (GRCm39)	I436T	probably benign	Het
Bbx	A	G	16: 50,022,935 (GRCm39)	I675T	probably damaging	Het
Bcas1	A	T	2: 170,190,040 (GRCm39)	V619E	probably damaging	Het
Cad	T	C	5: 31,218,576 (GRCm39)	V501A	possibly damaging	Het
Car8	T	A	4: 8,169,686 (GRCm39)	N274I	probably damaging	Het
Ccdc3	A	G	2: 5,146,143 (GRCm39)	Q159R	probably damaging	Het
Ccdc7b	A	T	8: 129,893,459 (GRCm39)	E95D	possibly damaging	Het
Cdh12	G	T	15: 21,492,801 (GRCm39)		probably benign	Het
Col11a1	G	T	3: 113,901,948 (GRCm39)	G548*	probably null	Het
Cpb2	A	G	14: 75,520,803 (GRCm39)	E406G	probably damaging	Het
Crocc	T	C	4: 140,747,132 (GRCm39)	S1723G	probably benign	Het
Ctu2	T	C	8: 123,206,045 (GRCm39)	V262A	probably benign	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dock3	A	T	9: 106,774,569 (GRCm39)	M62K	probably benign	Het
E2f3	A	G	13: 30,102,629 (GRCm39)	Y211H	probably damaging	Het
Elapor2	T	C	5: 9,460,699 (GRCm39)	Y207H	probably damaging	Het
Fam53c	T	A	18: 34,895,774 (GRCm39)	S25R	probably damaging	Het
Fhod3	T	G	18: 25,030,681 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Ggt1	A	T	10: 75,421,749 (GRCm39)	H532L	probably benign	Het
Gm10775	A	C	13: 65,407,770 (GRCm39)	T24P	unknown	Het
Hinfp	A	G	9: 44,213,872 (GRCm39)	S2P	probably benign	Het
Hs3st4	A	G	7: 123,582,749 (GRCm39)	T116A	probably benign	Het
Ighv5-9-1	A	T	12: 113,699,818 (GRCm39)	I98N	probably damaging	Het
Ipo11	A	T	13: 107,046,713 (GRCm39)	Y171N	probably benign	Het
Jph1	C	A	1: 17,161,838 (GRCm39)	A275S	probably damaging	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kcnh7	A	T	2: 62,618,097 (GRCm39)	I464K	probably damaging	Het
Lrp8	C	A	4: 107,717,158 (GRCm39)	P603T	probably benign	Het
Man1c1	C	A	4: 134,291,118 (GRCm39)	D593Y	probably damaging	Het
Mdm4	A	T	1: 132,929,169 (GRCm39)	I176K	possibly damaging	Het
Mpo	T	C	11: 87,686,693 (GRCm39)	V139A	probably benign	Het
Niban3	A	C	8: 72,055,520 (GRCm39)	D310A	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1f12	A	G	13: 21,721,864 (GRCm39)	S89P	possibly damaging	Het
Or4k51	G	A	2: 111,584,965 (GRCm39)	V124M	probably damaging	Het
Or9g4b	A	T	2: 85,616,088 (GRCm39)	I78L	probably benign	Het
Pcdh7	A	G	5: 57,878,779 (GRCm39)	D778G	possibly damaging	Het
Pcdhb12	T	C	18: 37,570,675 (GRCm39)	F607S	probably damaging	Het
Pcolce	A	G	5: 137,606,333 (GRCm39)	F157L	probably benign	Het
Pogk	T	C	1: 166,226,780 (GRCm39)	Y457C	probably damaging	Het
Ppp1r21	G	A	17: 88,866,086 (GRCm39)	E323K	possibly damaging	Het
Prkn	T	A	17: 11,456,527 (GRCm39)	V117E	probably damaging	Het
Prr12	A	C	7: 44,692,811 (GRCm39)	F1574V	probably damaging	Het
Rasl2-9	A	T	7: 5,128,448 (GRCm39)	F161I	probably damaging	Het
Rb1	A	G	14: 73,517,602 (GRCm39)	I268T	possibly damaging	Het
Rin3	A	T	12: 102,335,691 (GRCm39)	D534V	probably damaging	Het
Scn5a	C	T	9: 119,315,717 (GRCm39)	G1664S	probably damaging	Het
Sin3b	T	C	8: 73,471,168 (GRCm39)	S372P	probably benign	Het
Snx32	T	A	19: 5,548,485 (GRCm39)	H65L	probably damaging	Het
Spidr	T	A	16: 15,855,544 (GRCm39)	I324F	probably damaging	Het
Stab1	A	T	14: 30,867,298 (GRCm39)	F1687L	probably benign	Het
Taar6	T	C	10: 23,860,903 (GRCm39)	I214M	probably benign	Het
Vmn2r105	T	A	17: 20,447,685 (GRCm39)	N380Y	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
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

Predicted Primers

PCR Primer
(F):5'- TACTAGGGTCTTAAAGACTGAGGC -3'
(R):5'- TATTTCGGGAGAGCTGGCAC -3'

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

Posted On

2022-03-25