Incidental Mutation 'R7399:Dok7'
ID574019
Institutional Source Beutler Lab
Gene Symbol Dok7
Ensembl Gene ENSMUSG00000044716
Gene Namedocking protein 7
SynonymsDok-7, Oit5, A930013K19Rik, EF-12
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7399 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location35056766-35087839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35066471 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 81 (V81A)
Ref Sequence ENSEMBL: ENSMUSP00000059538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050709] [ENSMUST00000101298] [ENSMUST00000114270] [ENSMUST00000133381]
Predicted Effect probably damaging
Transcript: ENSMUST00000050709
AA Change: V81A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059538
Gene: ENSMUSG00000044716
AA Change: V81A

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: V118A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109909
Gene: ENSMUSG00000044716
AA Change: V118A

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 damaging
Transcript: ENSMUST00000133381
AA Change: V110A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116023
Gene: ENSMUSG00000044716
AA Change: V110A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,260,679 V801G possibly damaging Het
Actbl2 T A 13: 111,255,593 M154K probably benign Het
Adam7 A T 14: 68,504,466 probably null Het
Arfgef1 T A 1: 10,180,897 T888S probably benign Het
AW554918 C T 18: 25,169,060 P10L possibly damaging Het
Bcap29 A G 12: 31,630,882 I35T probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 probably null Het
C87499 C A 4: 88,627,965 R380L probably benign Het
Cdc25b A G 2: 131,194,654 D458G probably damaging Het
Cdc42bpb T C 12: 111,305,667 K1104R probably benign Het
Cep89 A G 7: 35,438,378 N729S probably damaging Het
Clec4a4 T A 6: 122,991,829 M51K possibly damaging Het
Dcdc2b A G 4: 129,609,629 L270P probably damaging Het
Dennd5b G T 6: 149,036,483 H639N probably damaging Het
Dnah11 T C 12: 118,125,785 E1182G probably damaging Het
Dnah11 T G 12: 118,027,477 T2385P probably benign Het
Dtx1 T A 5: 120,682,393 M494L possibly damaging Het
Foxj1 A T 11: 116,332,254 L241Q possibly damaging Het
Gbp10 G A 5: 105,236,149 probably benign Het
Hnmt T A 2: 24,003,880 T201S probably benign Het
Jup G T 11: 100,378,351 T412K possibly damaging Het
Kcnh2 G A 5: 24,322,059 S954F probably damaging Het
Klhdc7b A C 15: 89,388,644 K585T possibly damaging Het
Klk7 T A 7: 43,812,000 S14T probably benign Het
Lama4 G A 10: 39,047,948 E451K probably damaging Het
Ldhb A G 6: 142,495,673 C164R probably damaging Het
Malrd1 G A 2: 15,610,090 D239N Het
Mgam T A 6: 40,666,854 V572E probably damaging Het
Mrgprb2 G T 7: 48,552,142 N278K probably damaging Het
Msto1 A G 3: 88,911,823 Y206H probably damaging Het
Myo6 A G 9: 80,262,291 S467G unknown Het
Mysm1 T A 4: 94,961,727 I447L probably benign Het
Nav3 T C 10: 109,852,934 E494G possibly damaging Het
Nol10 T G 12: 17,402,173 V376G probably damaging Het
Nup205 T A 6: 35,214,676 I1032N probably damaging Het
Olfr1002 T A 2: 85,647,424 D299V possibly damaging Het
Olfr1100 G A 2: 86,978,157 T213I probably benign Het
Olfr1170 A T 2: 88,225,022 Y3* probably null Het
Olfr1450 A G 19: 12,954,447 N286S probably damaging Het
Olfr449 T G 6: 42,838,746 Y288* probably null Het
Olfr455 A G 6: 42,538,728 F98S possibly damaging Het
Olfr617 A T 7: 103,584,381 I120L possibly damaging Het
Olfr782 A T 10: 129,350,557 probably benign Het
Olfr996 A G 2: 85,579,296 D19G probably benign Het
Oog2 A G 4: 144,195,281 K254E probably benign Het
Osbpl11 T A 16: 33,236,279 D694E probably benign Het
Pcm1 T A 8: 41,293,510 Y1210N probably benign Het
Pdxk T C 10: 78,440,863 M293V probably benign Het
Plcb3 T C 19: 6,962,867 I451V probably benign Het
Plekhm2 A G 4: 141,634,376 F272S probably damaging Het
Ptgdr A T 14: 44,858,232 probably null Het
Ptprf C T 4: 118,226,523 V788I probably benign Het
Ralbp1 C T 17: 65,854,148 V467I probably benign Het
Ralgds A C 2: 28,543,655 Q229P possibly damaging Het
Recql T C 6: 142,374,884 D146G probably damaging Het
Reln T C 5: 22,051,367 N493S probably damaging Het
Rfxank C T 8: 70,135,286 probably null Het
Scn5a A T 9: 119,486,530 M1704K probably damaging Het
Slc7a7 G T 14: 54,374,268 A316E possibly damaging Het
Slco1a6 A T 6: 142,091,068 C538S probably benign Het
Spert A G 14: 75,592,637 S39P probably benign Het
Stard6 T C 18: 70,498,647 probably null Het
Strip2 T A 6: 29,927,613 M219K possibly damaging Het
Tcam1 T C 11: 106,284,085 V122A probably damaging Het
Tha1 A G 11: 117,869,690 V236A possibly damaging Het
Tmem201 A T 4: 149,731,097 I132N possibly damaging Het
Tnc T C 4: 64,020,657 probably benign Het
Vmn1r42 T C 6: 89,845,513 T25A probably benign Het
Vmn2r94 T A 17: 18,244,503 probably null Het
Wdfy4 A C 14: 33,068,906 V2188G Het
Zfp623 T C 15: 75,947,398 S68P probably damaging Het
Zfp950 A T 19: 61,119,155 C497S probably damaging Het
Zkscan2 C T 7: 123,480,104 E877K probably damaging Het
Zp3r C A 1: 130,577,053 V536L probably damaging Het
Other mutations in Dok7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Dok7 APN 5 35079568 missense possibly damaging 0.49
P0022:Dok7 UTSW 5 35075411 missense probably damaging 1.00
R0255:Dok7 UTSW 5 35064334 missense probably damaging 1.00
R0462:Dok7 UTSW 5 35066462 missense possibly damaging 0.88
R0536:Dok7 UTSW 5 35066482 missense probably damaging 1.00
R0800:Dok7 UTSW 5 35075289 splice site probably benign
R1533:Dok7 UTSW 5 35064327 splice site probably null
R1659:Dok7 UTSW 5 35079139 missense possibly damaging 0.55
R1772:Dok7 UTSW 5 35086650 missense probably damaging 0.98
R1969:Dok7 UTSW 5 35077266 splice site probably null
R4321:Dok7 UTSW 5 35079797 utr 3 prime probably benign
R5864:Dok7 UTSW 5 35066546 missense probably damaging 1.00
R6047:Dok7 UTSW 5 35079307 missense probably damaging 1.00
R6773:Dok7 UTSW 5 35077184 missense probably damaging 1.00
R7003:Dok7 UTSW 5 35079555 missense probably benign 0.06
R7129:Dok7 UTSW 5 35079048 missense probably damaging 1.00
R7326:Dok7 UTSW 5 35064522 missense probably benign 0.11
R7712:Dok7 UTSW 5 35066522 missense probably damaging 1.00
R7851:Dok7 UTSW 5 35056936 start codon destroyed probably null 0.04
R8127:Dok7 UTSW 5 35087001 missense probably benign
R8772:Dok7 UTSW 5 35077249 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTGGTGTCTTGGCACTTCAC -3'
(R):5'- CACGCACGGTGTACTTACAG -3'

Sequencing Primer
(F):5'- TTGGCACTTCACGGCATG -3'
(R):5'- GTACTTACAGTACCCACACCTGGTC -3'
Posted On2019-09-13