Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Dok7'

568886

Institutional Source

Beutler Lab

Gene Symbol

Dok7

Ensembl Gene

ENSMUSG00000044716

Gene Name

docking protein 7

Synonyms

Dok-7, Oit5, A930013K19Rik, EF-12

MMRRC Submission

045378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35056766-35087839 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35064522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 60 (M60L)

Ref Sequence

ENSEMBL: ENSMUSP00000059538 (fasta)

Gene Model

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

AlphaFold

Q18PE0

Predicted Effect

probably benign
Transcript: ENSMUST00000050709
AA Change: M60L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059538
Gene: ENSMUSG00000044716
AA Change: M60L

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

possibly damaging
Transcript: ENSMUST00000114270
AA Change: M97L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109909
Gene: ENSMUSG00000044716
AA Change: M97L

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
AA Change: M89L

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116023
Gene: ENSMUSG00000044716
AA Change: M89L

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: 99.8%
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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	T	7: 139,978,545 (GRCm38)		probably null	Het
Abcb4	T	C	5: 8,934,226 (GRCm38)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,141,072 (GRCm38)	V417L	probably damaging	Het
Add1	A	G	5: 34,619,371 (GRCm38)	R479G	probably benign	Het
Adgb	A	T	10: 10,400,574 (GRCm38)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,846,870 (GRCm38)	S666T	probably benign	Het
Akap9	T	A	5: 4,045,930 (GRCm38)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 108,054,066 (GRCm38)	H229Q	probably benign	Het
Ano6	G	C	15: 95,864,244 (GRCm38)	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,175,019 (GRCm38)	D180N	probably damaging	Het
Apc2	A	T	10: 80,311,740 (GRCm38)	D876V	probably damaging	Het
Apcdd1	T	A	18: 62,952,188 (GRCm38)	Y485*	probably null	Het
Aqp1	G	T	6: 55,336,851 (GRCm38)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,369,609 (GRCm38)	R141S	probably benign	Het
Brpf3	C	A	17: 28,806,293 (GRCm38)	H113Q	probably benign	Het
Cacng2	A	T	15: 78,013,320 (GRCm38)	Y96*	probably null	Het
Catsperg1	G	T	7: 29,210,759 (GRCm38)	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,394,995 (GRCm38)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,332,605 (GRCm38)	N516K	probably benign	Het
Ciita	G	A	16: 10,512,288 (GRCm38)	R812H	probably damaging	Het
Cldn3	T	A	5: 134,986,983 (GRCm38)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,077,299 (GRCm38)	I512V	probably benign	Het
Col5a2	A	T	1: 45,442,867 (GRCm38)	D32E	unknown	Het
Coro7	A	G	16: 4,632,048 (GRCm38)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 71,988,654 (GRCm38)	D494G	probably benign	Het
Ddx39	T	A	8: 83,722,471 (GRCm38)	V296E	probably benign	Het
Dgkg	A	T	16: 22,548,690 (GRCm38)	H593Q	probably damaging	Het
Dhx16	T	C	17: 35,886,160 (GRCm38)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,598,403 (GRCm38)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,720,930 (GRCm38)	V4521I	probably damaging	Het
Donson	A	T	16: 91,688,711 (GRCm38)	M1K	probably null	Het
Dsp	C	T	13: 38,192,883 (GRCm38)	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,692,043 (GRCm38)	T712A	probably damaging	Het
Eef2	A	G	10: 81,181,282 (GRCm38)	T708A	probably benign	Het
Epn3	G	A	11: 94,493,780 (GRCm38)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,226,472 (GRCm38)	R881*	probably null	Het
Fam71a	G	A	1: 191,164,353 (GRCm38)	T31M	probably benign	Het
Fat2	T	A	11: 55,282,304 (GRCm38)	R2528W	probably damaging	Het
Fgfr1	T	G	8: 25,573,839 (GRCm38)	F707C	probably damaging	Het
Frem2	G	C	3: 53,654,753 (GRCm38)	P778A	probably damaging	Het
Ganc	A	G	2: 120,430,599 (GRCm38)	Y255C	probably damaging	Het
Ginm1	A	T	10: 7,777,850 (GRCm38)	Y65*	probably null	Het
Gm11559	T	A	11: 99,864,881 (GRCm38)	C119S	unknown	Het
Gnai1	T	A	5: 18,289,551 (GRCm38)	H188L		Het
H6pd	C	T	4: 149,996,350 (GRCm38)	A13T	probably benign	Het
Hist1h2be	T	C	13: 23,585,923 (GRCm38)	K12E	probably benign	Het
Hoxd12	A	T	2: 74,675,246 (GRCm38)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,833,194 (GRCm38)	L242M	probably damaging	Het
Il9r	C	A	11: 32,194,389 (GRCm38)	V139L	possibly damaging	Het
Immt	A	G	6: 71,846,369 (GRCm38)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,632,985 (GRCm38)	I304V	unknown	Het
Lgr4	G	A	2: 109,996,629 (GRCm38)	W159*	probably null	Het
Lin52	G	A	12: 84,457,954 (GRCm38)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,719,453 (GRCm38)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,456,778 (GRCm38)	R180S	possibly damaging	Het
Lrrc29	T	C	8: 105,312,898 (GRCm38)	D127G	probably damaging	Het
Lrrc36	A	T	8: 105,449,769 (GRCm38)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,329,755 (GRCm38)	Q235L	unknown	Het
Maml2	A	G	9: 13,621,607 (GRCm38)	M706V		Het
Mc5r	G	T	18: 68,339,668 (GRCm38)	C366F	probably damaging	Het
Mlip	T	C	9: 77,164,842 (GRCm38)	R244G	probably benign	Het
Muc16	T	A	9: 18,585,013 (GRCm38)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm38)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,564,943 (GRCm38)	M565V	probably benign	Het
Nphp1	G	A	2: 127,761,217 (GRCm38)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,564,026 (GRCm38)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,800,409 (GRCm38)	N361Y	probably damaging	Het
Olfr1045	A	G	2: 86,198,573 (GRCm38)	Y60H	probably damaging	Het
Olfr1309	A	T	2: 111,983,327 (GRCm38)	L249*	probably null	Het
Olfr308	A	G	7: 86,321,574 (GRCm38)	I126T	probably damaging	Het
Olfr461	G	T	6: 40,544,895 (GRCm38)	A28E	probably damaging	Het
Olfr518	A	T	7: 108,880,816 (GRCm38)	H263Q	probably damaging	Het
Olfr836	A	G	9: 19,121,669 (GRCm38)	Y235C	probably benign	Het
Olfr993	A	T	2: 85,414,444 (GRCm38)	V145E	probably damaging	Het
Orc5	A	G	5: 22,523,584 (GRCm38)	F308L	probably benign	Het
Padi1	T	A	4: 140,832,404 (GRCm38)	Y54F	probably benign	Het
Parp1	A	G	1: 180,569,100 (GRCm38)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,685,972 (GRCm38)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,756,860 (GRCm38)	H2R	probably benign	Het
Pcnx2	G	A	8: 125,887,083 (GRCm38)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465 (GRCm38)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,859,734 (GRCm38)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,507,325 (GRCm38)	N254K	probably damaging	Het
Psd	A	G	19: 46,324,454 (GRCm38)	L159P	probably benign	Het
Ptprf	A	G	4: 118,231,669 (GRCm38)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,937,633 (GRCm38)	S92T	probably benign	Het
Rabgef1	A	G	5: 130,187,351 (GRCm38)		probably benign	Het
Ralgapa1	C	A	12: 55,709,004 (GRCm38)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,385,463 (GRCm38)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm38)		probably benign	Het
Ryr2	T	A	13: 11,738,194 (GRCm38)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,439,717 (GRCm38)	L13P	unknown	Het
Sppl3	C	A	5: 115,082,335 (GRCm38)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,291,613 (GRCm38)	Y264*	probably null	Het
Stxbp2	T	C	8: 3,641,151 (GRCm38)	M465T		Het
Sumf2	A	G	5: 129,862,710 (GRCm38)	K305R	probably benign	Het
Susd2	T	A	10: 75,642,565 (GRCm38)	Y59F	probably benign	Het
Taco1	T	C	11: 106,072,617 (GRCm38)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,777,906 (GRCm38)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,184,898 (GRCm38)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,564,059 (GRCm38)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,617,800 (GRCm38)	Y457*	probably null	Het
Ttc38	A	G	15: 85,852,861 (GRCm38)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,555,910 (GRCm38)	N127K	probably benign	Het
Wdr91	A	T	6: 34,904,626 (GRCm38)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,302,755 (GRCm38)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,430,209 (GRCm38)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,502,095 (GRCm38)	T90A	probably benign	Het
Zfp407	A	T	18: 84,559,042 (GRCm38)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,638,277 (GRCm38)	S135G	probably benign	Het
Zscan29	A	T	2: 121,160,988 (GRCm38)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,980,834 (GRCm38)	V787E	possibly damaging	Het

Other mutations in Dok7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Dok7	APN	5	35,079,568 (GRCm38)	missense	possibly damaging	0.49
P0022:Dok7	UTSW	5	35,075,411 (GRCm38)	missense	probably damaging	1.00
R0255:Dok7	UTSW	5	35,064,334 (GRCm38)	missense	probably damaging	1.00
R0462:Dok7	UTSW	5	35,066,462 (GRCm38)	missense	possibly damaging	0.88
R0536:Dok7	UTSW	5	35,066,482 (GRCm38)	missense	probably damaging	1.00
R0800:Dok7	UTSW	5	35,075,289 (GRCm38)	splice site	probably benign
R1533:Dok7	UTSW	5	35,064,327 (GRCm38)	splice site	probably null
R1659:Dok7	UTSW	5	35,079,139 (GRCm38)	missense	possibly damaging	0.55
R1772:Dok7	UTSW	5	35,086,650 (GRCm38)	missense	probably damaging	0.98
R1969:Dok7	UTSW	5	35,077,266 (GRCm38)	splice site	probably null
R4321:Dok7	UTSW	5	35,079,797 (GRCm38)	utr 3 prime	probably benign
R5864:Dok7	UTSW	5	35,066,546 (GRCm38)	missense	probably damaging	1.00
R6047:Dok7	UTSW	5	35,079,307 (GRCm38)	missense	probably damaging	1.00
R6773:Dok7	UTSW	5	35,077,184 (GRCm38)	missense	probably damaging	1.00
R7003:Dok7	UTSW	5	35,079,555 (GRCm38)	missense	probably benign	0.06
R7129:Dok7	UTSW	5	35,079,048 (GRCm38)	missense	probably damaging	1.00
R7399:Dok7	UTSW	5	35,066,471 (GRCm38)	missense	probably damaging	1.00
R7712:Dok7	UTSW	5	35,066,522 (GRCm38)	missense	probably damaging	1.00
R7851:Dok7	UTSW	5	35,056,936 (GRCm38)	start codon destroyed	probably null	0.04
R8127:Dok7	UTSW	5	35,087,001 (GRCm38)	missense	probably benign
R8772:Dok7	UTSW	5	35,077,249 (GRCm38)	missense	probably damaging	1.00
R9028:Dok7	UTSW	5	35,079,475 (GRCm38)	missense	probably damaging	1.00
R9272:Dok7	UTSW	5	35,056,895 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGATGCTGGTCTACAAGG -3'
(R):5'- AGTTCATTCCTAGCCCCTGG -3'

Sequencing Primer
(F):5'- CTGATGCTGGTCTACAAGGACAAATG -3'
(R):5'- TGGCCTGAGCACCTGCAAG -3'

Posted On

2019-09-13