Incidental Mutation 'R7326:Dok7'
ID 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 5
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

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

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

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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2019-09-13