Incidental Mutation 'R5864:Dok7'
ID 454054
Institutional Source Beutler Lab
Gene Symbol Dok7
Ensembl Gene ENSMUSG00000044716
Gene Name docking protein 7
Synonyms Dok-7, A930013K19Rik, EF-12, Oit5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5864 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 35214110-35245183 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 35223890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 143 (D143A)
Ref Sequence ENSEMBL: ENSMUSP00000109909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050709] [ENSMUST00000101298] [ENSMUST00000114270] [ENSMUST00000133381]
AlphaFold Q18PE0
Predicted Effect probably damaging
Transcript: ENSMUST00000050709
AA Change: D106A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059538
Gene: ENSMUSG00000044716
AA Change: D106A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: D143A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109909
Gene: ENSMUSG00000044716
AA Change: D143A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 A T 12: 84,090,178 (GRCm39) I292F probably benign Het
Adamdec1 A G 14: 68,807,551 (GRCm39) S370P probably damaging Het
Ankar T C 1: 72,698,324 (GRCm39) K692R probably benign Het
Ano6 T C 15: 95,818,261 (GRCm39) probably null Het
Asns G A 6: 7,675,443 (GRCm39) Q520* probably null Het
Bbs12 C T 3: 37,373,639 (GRCm39) T144I probably damaging Het
C8g C T 2: 25,388,955 (GRCm39) G186D probably damaging Het
Clptm1l T C 13: 73,754,403 (GRCm39) F109S probably damaging Het
Coa8 G A 12: 111,717,652 (GRCm39) V171I probably benign Het
Col4a1 G A 8: 11,252,973 (GRCm39) probably benign Het
Cpn2 T C 16: 30,078,501 (GRCm39) D400G probably damaging Het
Dgke G C 11: 88,941,288 (GRCm39) Y298* probably null Het
Dnah5 G A 15: 28,297,159 (GRCm39) R1451Q possibly damaging Het
Dock8 A G 19: 25,038,584 (GRCm39) D90G probably damaging Het
Elk3 G A 10: 93,120,653 (GRCm39) A62V probably damaging Het
Epha2 T A 4: 141,035,738 (GRCm39) M58K probably damaging Het
Erp27 G T 6: 136,885,098 (GRCm39) D233E probably benign Het
Gm5174 T A 10: 86,493,045 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,107 (GRCm39) D214G probably damaging Het
Hrob G A 11: 102,145,972 (GRCm39) E83K probably benign Het
Ifi35 A T 11: 101,349,069 (GRCm39) I238F probably damaging Het
Ighmbp2 T C 19: 3,311,467 (GRCm39) T983A probably benign Het
Itgb4 C T 11: 115,881,748 (GRCm39) R766W probably damaging Het
Lrp1 C A 10: 127,403,374 (GRCm39) K2066N possibly damaging Het
Mansc1 T G 6: 134,587,816 (GRCm39) probably null Het
Mapre3 T C 5: 31,020,582 (GRCm39) F101S probably damaging Het
Mettl8 T C 2: 70,812,357 (GRCm39) T58A probably benign Het
Mical1 G T 10: 41,362,064 (GRCm39) R857L possibly damaging Het
Nacad T C 11: 6,550,581 (GRCm39) D870G probably benign Het
Nectin1 A G 9: 43,702,607 (GRCm39) D118G probably damaging Het
Nlrp2 A T 7: 5,325,380 (GRCm39) L26Q probably damaging Het
Or10a3m A G 7: 108,312,671 (GRCm39) D25G probably benign Het
Pamr1 T C 2: 102,464,693 (GRCm39) S281P possibly damaging Het
Pcdhgc5 T A 18: 37,954,814 (GRCm39) V696E probably damaging Het
Pde4d G T 13: 110,074,582 (GRCm39) A396S probably benign Het
Pecam1 G T 11: 106,575,076 (GRCm39) C510* probably null Het
Pga5 C T 19: 10,652,513 (GRCm39) G76S probably damaging Het
Phldb3 A T 7: 24,323,571 (GRCm39) H435L possibly damaging Het
Piezo1 T C 8: 123,213,112 (GRCm39) R1884G possibly damaging Het
Ripk4 T C 16: 97,564,782 (GRCm39) H43R probably damaging Het
Rtn3 A G 19: 7,412,476 (GRCm39) V785A probably damaging Het
Safb2 A G 17: 56,873,491 (GRCm39) probably benign Het
Sephs1 T C 2: 4,910,393 (GRCm39) F288L probably damaging Het
Sez6l A G 5: 112,586,266 (GRCm39) probably null Het
Siglece A G 7: 43,308,741 (GRCm39) L204P probably damaging Het
Sis T C 3: 72,857,151 (GRCm39) D380G probably damaging Het
Slamf9 G T 1: 172,304,033 (GRCm39) R126L probably benign Het
Sorl1 A G 9: 42,003,669 (GRCm39) L209P probably damaging Het
Sptbn1 A C 11: 30,095,925 (GRCm39) I310S probably damaging Het
Tex52 A G 6: 128,356,645 (GRCm39) T113A probably benign Het
Trav6-3 T A 14: 53,667,628 (GRCm39) Y33* probably null Het
Vmn2r102 A G 17: 19,914,943 (GRCm39) E836G possibly damaging Het
Wdsub1 C T 2: 59,708,819 (GRCm39) C18Y probably damaging Het
Zfp341 C A 2: 154,485,474 (GRCm39) H637N possibly damaging Het
Zfp445 C T 9: 122,682,552 (GRCm39) S463N probably benign Het
Zfp612 G A 8: 110,816,358 (GRCm39) D522N probably damaging Het
Other mutations in Dok7
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAGGAATGTTGCCTCTACCC -3'
(R):5'- TGTTGCTTGGGGAAACAGCC -3'

Sequencing Primer
(F):5'- TTCCGTGGGAGCACAGCTAC -3'
(R):5'- TCCTGTCAGGTCCCCAAG -3'
Posted On 2017-02-10