Incidental Mutation 'R1476:Dock7'
ID 164047
Institutional Source Beutler Lab
Gene Symbol Dock7
Ensembl Gene ENSMUSG00000028556
Gene Name dedicator of cytokinesis 7
Synonyms m, LOC242555, 3110056M06Rik
MMRRC Submission 039529-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1476 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 98824908-99009152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98967672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 239 (H239Q)
Ref Sequence ENSEMBL: ENSMUSP00000145604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030286] [ENSMUST00000075836] [ENSMUST00000127417] [ENSMUST00000205650]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030286
AA Change: H239Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: H239Q

DomainStartEndE-ValueType
Pfam:DUF3398 67 159 6.5e-30 PFAM
coiled coil region 367 394 N/A INTRINSIC
low complexity region 493 504 N/A INTRINSIC
Pfam:DOCK-C2 557 736 1.8e-51 PFAM
low complexity region 789 799 N/A INTRINSIC
low complexity region 862 873 N/A INTRINSIC
low complexity region 888 901 N/A INTRINSIC
low complexity region 1135 1163 N/A INTRINSIC
low complexity region 1350 1364 N/A INTRINSIC
low complexity region 1543 1565 N/A INTRINSIC
Pfam:DHR-2 1571 2095 1.4e-217 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075836
AA Change: H239Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
AA Change: H239Q

DomainStartEndE-ValueType
Pfam:DUF3398 65 159 5.8e-34 PFAM
coiled coil region 367 394 N/A INTRINSIC
low complexity region 493 504 N/A INTRINSIC
Pfam:DOCK-C2 556 737 3.3e-58 PFAM
low complexity region 789 799 N/A INTRINSIC
low complexity region 862 873 N/A INTRINSIC
low complexity region 888 901 N/A INTRINSIC
low complexity region 1105 1133 N/A INTRINSIC
low complexity region 1320 1334 N/A INTRINSIC
low complexity region 1513 1535 N/A INTRINSIC
Pfam:Ded_cyto 1888 2065 6.5e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127417
AA Change: H239Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: H239Q

DomainStartEndE-ValueType
low complexity region 140 162 N/A INTRINSIC
Pfam:Ded_cyto 517 694 3e-80 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205650
AA Change: H239Q

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.0746 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 95% (80/84)
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 a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for mutations of this gene exhibit coat color dilution, white tail tip, and on some genetic backgrounds a white belly spot. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,528 (GRCm39) probably benign Het
A730015C16Rik G A 4: 108,705,205 (GRCm39) V40M probably damaging Het
Abcg2 A G 6: 58,655,322 (GRCm39) D419G probably benign Het
Adamts17 A C 7: 66,725,091 (GRCm39) E777A probably damaging Het
Ak1 A G 2: 32,523,478 (GRCm39) K166R probably benign Het
Ankrd12 T C 17: 66,293,300 (GRCm39) K711R probably damaging Het
Ate1 A T 7: 130,020,301 (GRCm39) probably null Het
Atp5f1a A G 18: 77,869,625 (GRCm39) H519R probably benign Het
Best1 G T 19: 9,967,853 (GRCm39) Y284* probably null Het
C2cd6 A G 1: 59,115,887 (GRCm39) probably benign Het
Casz1 G T 4: 149,030,628 (GRCm39) V1216L probably benign Het
Cdc42bpg A G 19: 6,363,812 (GRCm39) D493G probably damaging Het
Ces2f A G 8: 105,679,134 (GRCm39) D317G possibly damaging Het
Chst15 A T 7: 131,872,002 (GRCm39) M93K possibly damaging Het
Cntnap5a T C 1: 115,828,750 (GRCm39) L58P probably damaging Het
Crip3 T C 17: 46,741,702 (GRCm39) probably benign Het
Csmd2 G A 4: 128,380,794 (GRCm39) E2117K probably benign Het
Cstf3 A G 2: 104,478,564 (GRCm39) D212G possibly damaging Het
Cttnbp2 T C 6: 18,434,220 (GRCm39) K546R probably damaging Het
Cubn A G 2: 13,480,931 (GRCm39) I308T probably benign Het
Cxcl9 T A 5: 92,472,972 (GRCm39) D75V probably damaging Het
Dcdc5 C T 2: 106,188,977 (GRCm39) noncoding transcript Het
Defa30 C A 8: 21,624,752 (GRCm39) T25K possibly damaging Het
Dpp4 A G 2: 62,178,245 (GRCm39) V629A possibly damaging Het
Fam83a T C 15: 57,873,341 (GRCm39) M390T probably benign Het
Fem1c A G 18: 46,657,552 (GRCm39) L54P probably damaging Het
Fntb T A 12: 76,957,007 (GRCm39) M282K probably benign Het
Galnt2l A G 8: 122,996,323 (GRCm39) probably benign Het
Gm11099 G A 2: 58,749,482 (GRCm39) probably benign Het
Gm1527 T C 3: 28,980,705 (GRCm39) S602P probably benign Het
Gm5478 T A 15: 101,553,080 (GRCm39) I331F probably damaging Het
Gm7853 C A 14: 35,811,540 (GRCm39) noncoding transcript Het
Gsta2 A T 9: 78,249,147 (GRCm39) C18S probably benign Het
H1f8 T C 6: 115,924,701 (GRCm39) V69A possibly damaging Het
Hecw1 T C 13: 14,480,671 (GRCm39) E465G probably damaging Het
Herc1 A G 9: 66,415,548 (GRCm39) D4841G probably damaging Het
Hus1b A G 13: 31,130,984 (GRCm39) V225A probably benign Het
Keg1 A T 19: 12,693,387 (GRCm39) M137L probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mga T A 2: 119,772,156 (GRCm39) V1672E probably damaging Het
Mios T C 6: 8,234,237 (GRCm39) S803P probably benign Het
Mrtfa T C 15: 80,902,409 (GRCm39) probably benign Het
Msh4 A T 3: 153,569,021 (GRCm39) Y851N probably damaging Het
Mybl1 A C 1: 9,742,886 (GRCm39) probably null Het
Myo5c A G 9: 75,183,221 (GRCm39) Y865C probably damaging Het
Naip1 T C 13: 100,563,378 (GRCm39) S596G probably benign Het
Nek5 G T 8: 22,586,747 (GRCm39) Q355K possibly damaging Het
Nphp3 G T 9: 103,903,126 (GRCm39) R701L possibly damaging Het
Or52n2 A T 7: 104,542,444 (GRCm39) Y130* probably null Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Or5m10 T A 2: 85,717,592 (GRCm39) Y149* probably null Het
Or5t9 T C 2: 86,659,542 (GRCm39) S149P probably benign Het
Or9g4 T A 2: 85,505,262 (GRCm39) T78S possibly damaging Het
Palm A G 10: 79,651,021 (GRCm39) N149D possibly damaging Het
Pot1b T C 17: 55,960,451 (GRCm39) I626M possibly damaging Het
Ptprt T A 2: 161,769,404 (GRCm39) D487V probably damaging Het
Qpct A G 17: 79,378,201 (GRCm39) I124V probably benign Het
Rbm12b1 T A 4: 12,145,817 (GRCm39) D596E possibly damaging Het
Rnf157 A G 11: 116,245,585 (GRCm39) C277R probably damaging Het
Rnf169 A G 7: 99,574,535 (GRCm39) S687P possibly damaging Het
Sfxn1 T A 13: 54,246,469 (GRCm39) probably null Het
Slc6a21 T C 7: 44,922,052 (GRCm39) V649A probably benign Het
Slit3 A T 11: 35,577,126 (GRCm39) T1120S probably damaging Het
Spem2 A T 11: 69,708,896 (GRCm39) M58K probably benign Het
Sprr2k T A 3: 92,340,703 (GRCm39) probably benign Het
Sspo T C 6: 48,440,334 (GRCm39) probably null Het
Sv2b A T 7: 74,769,791 (GRCm39) F584I possibly damaging Het
Tkfc A T 19: 10,572,690 (GRCm39) M317K probably null Het
Tnni3k C T 3: 154,735,942 (GRCm39) G134S probably benign Het
Ttn C T 2: 76,570,124 (GRCm39) R26923H probably damaging Het
Tuba3b T C 6: 145,564,179 (GRCm39) V75A possibly damaging Het
Unc79 T C 12: 103,149,784 (GRCm39) L2626P probably damaging Het
Usp24 A T 4: 106,219,130 (GRCm39) I491F probably damaging Het
V1ra8 A T 6: 90,180,132 (GRCm39) I112F probably damaging Het
Vmn1r29 T G 6: 58,284,663 (GRCm39) F128V probably benign Het
Wdr87-ps A G 7: 29,234,315 (GRCm39) noncoding transcript Het
Zfp157 T A 5: 138,453,357 (GRCm39) probably null Het
Other mutations in Dock7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Dock7 APN 4 98,952,222 (GRCm39) missense probably damaging 1.00
IGL01126:Dock7 APN 4 98,861,789 (GRCm39) splice site probably benign
IGL01490:Dock7 APN 4 98,833,355 (GRCm39) unclassified probably benign
IGL01553:Dock7 APN 4 98,833,803 (GRCm39) nonsense probably null
IGL01728:Dock7 APN 4 98,850,568 (GRCm39) missense probably damaging 1.00
IGL01776:Dock7 APN 4 98,829,178 (GRCm39) missense possibly damaging 0.65
IGL01954:Dock7 APN 4 98,971,388 (GRCm39) missense probably damaging 0.99
IGL01985:Dock7 APN 4 98,911,614 (GRCm39) missense probably benign 0.35
IGL02054:Dock7 APN 4 98,861,646 (GRCm39) missense probably damaging 1.00
IGL02150:Dock7 APN 4 98,968,089 (GRCm39) splice site probably benign
IGL02153:Dock7 APN 4 98,846,304 (GRCm39) missense probably benign 0.15
IGL02183:Dock7 APN 4 98,847,228 (GRCm39) missense possibly damaging 0.89
IGL02494:Dock7 APN 4 98,877,471 (GRCm39) missense probably benign 0.18
IGL02618:Dock7 APN 4 98,971,265 (GRCm39) missense probably benign 0.00
IGL02634:Dock7 APN 4 98,877,533 (GRCm39) missense probably damaging 1.00
IGL02670:Dock7 APN 4 98,854,523 (GRCm39) splice site probably null
IGL02690:Dock7 APN 4 98,857,872 (GRCm39) missense possibly damaging 0.95
IGL02692:Dock7 APN 4 98,875,623 (GRCm39) missense probably damaging 1.00
IGL02833:Dock7 APN 4 98,833,732 (GRCm39) missense probably damaging 1.00
IGL02858:Dock7 APN 4 98,833,442 (GRCm39) nonsense probably null
IGL02875:Dock7 APN 4 98,864,231 (GRCm39) missense probably benign 0.00
IGL03027:Dock7 APN 4 98,958,450 (GRCm39) missense possibly damaging 0.71
IGL03027:Dock7 APN 4 98,866,164 (GRCm39) missense probably benign
IGL03032:Dock7 APN 4 98,854,585 (GRCm39) missense probably benign 0.02
IGL03104:Dock7 APN 4 98,847,260 (GRCm39) missense possibly damaging 0.60
IGL03136:Dock7 APN 4 98,892,028 (GRCm39) missense probably damaging 1.00
IGL03345:Dock7 APN 4 98,873,056 (GRCm39) missense possibly damaging 0.91
Beaming UTSW 4 98,967,992 (GRCm39) nonsense probably null
moonlight UTSW 4 0 () large deletion
Nocturn UTSW 4 98,952,199 (GRCm39) missense probably benign 0.00
sonata UTSW 4 98,889,364 (GRCm39) nonsense probably null
BB005:Dock7 UTSW 4 98,889,335 (GRCm39) missense
BB015:Dock7 UTSW 4 98,889,335 (GRCm39) missense
PIT4810001:Dock7 UTSW 4 98,833,796 (GRCm39) nonsense probably null
R0086:Dock7 UTSW 4 98,833,381 (GRCm39) missense probably damaging 1.00
R0242:Dock7 UTSW 4 98,850,517 (GRCm39) missense probably benign
R0242:Dock7 UTSW 4 98,850,517 (GRCm39) missense probably benign
R0245:Dock7 UTSW 4 98,943,586 (GRCm39) missense possibly damaging 0.64
R0308:Dock7 UTSW 4 98,873,051 (GRCm39) missense probably benign 0.07
R0556:Dock7 UTSW 4 98,833,426 (GRCm39) missense probably damaging 1.00
R0612:Dock7 UTSW 4 98,877,470 (GRCm39) missense probably benign 0.31
R0652:Dock7 UTSW 4 98,943,586 (GRCm39) missense possibly damaging 0.64
R0669:Dock7 UTSW 4 98,875,716 (GRCm39) missense probably benign 0.00
R0681:Dock7 UTSW 4 98,904,941 (GRCm39) missense probably damaging 1.00
R0725:Dock7 UTSW 4 98,833,528 (GRCm39) missense probably damaging 1.00
R0828:Dock7 UTSW 4 98,903,982 (GRCm39) missense probably damaging 1.00
R0837:Dock7 UTSW 4 98,877,495 (GRCm39) missense probably benign 0.01
R0962:Dock7 UTSW 4 98,833,432 (GRCm39) missense possibly damaging 0.85
R1140:Dock7 UTSW 4 98,953,643 (GRCm39) missense possibly damaging 0.82
R1614:Dock7 UTSW 4 98,949,517 (GRCm39) missense probably benign 0.12
R1625:Dock7 UTSW 4 98,850,433 (GRCm39) splice site probably null
R1640:Dock7 UTSW 4 98,833,483 (GRCm39) missense probably damaging 1.00
R1752:Dock7 UTSW 4 98,854,681 (GRCm39) missense probably damaging 1.00
R1941:Dock7 UTSW 4 98,872,952 (GRCm39) missense probably benign 0.09
R2020:Dock7 UTSW 4 98,847,338 (GRCm39) missense probably damaging 1.00
R2092:Dock7 UTSW 4 98,897,545 (GRCm39) missense possibly damaging 0.95
R2293:Dock7 UTSW 4 98,854,606 (GRCm39) missense probably damaging 1.00
R2424:Dock7 UTSW 4 98,833,544 (GRCm39) nonsense probably null
R3767:Dock7 UTSW 4 98,859,066 (GRCm39) missense probably benign
R3768:Dock7 UTSW 4 98,859,066 (GRCm39) missense probably benign
R3769:Dock7 UTSW 4 98,859,066 (GRCm39) missense probably benign
R3770:Dock7 UTSW 4 98,859,066 (GRCm39) missense probably benign
R3917:Dock7 UTSW 4 98,904,922 (GRCm39) missense probably damaging 1.00
R3943:Dock7 UTSW 4 98,880,668 (GRCm39) missense probably damaging 1.00
R4021:Dock7 UTSW 4 98,892,157 (GRCm39) splice site probably null
R4073:Dock7 UTSW 4 98,896,296 (GRCm39) missense probably benign 0.02
R4170:Dock7 UTSW 4 98,854,638 (GRCm39) missense probably damaging 0.99
R4180:Dock7 UTSW 4 98,904,973 (GRCm39) missense probably benign 0.05
R4261:Dock7 UTSW 4 98,892,123 (GRCm39) missense possibly damaging 0.78
R4321:Dock7 UTSW 4 98,960,691 (GRCm39) missense probably damaging 1.00
R4522:Dock7 UTSW 4 98,850,461 (GRCm39) missense probably damaging 1.00
R4582:Dock7 UTSW 4 98,892,153 (GRCm39) missense possibly damaging 0.90
R4648:Dock7 UTSW 4 98,857,881 (GRCm39) nonsense probably null
R4940:Dock7 UTSW 4 98,908,314 (GRCm39) missense probably damaging 1.00
R5090:Dock7 UTSW 4 98,879,648 (GRCm39) missense probably benign 0.04
R5374:Dock7 UTSW 4 98,877,275 (GRCm39) missense possibly damaging 0.81
R5392:Dock7 UTSW 4 98,896,243 (GRCm39) missense probably damaging 1.00
R5527:Dock7 UTSW 4 98,842,105 (GRCm39) intron probably benign
R5544:Dock7 UTSW 4 98,855,494 (GRCm39) missense probably damaging 1.00
R5556:Dock7 UTSW 4 98,832,972 (GRCm39) missense probably damaging 1.00
R5870:Dock7 UTSW 4 98,952,199 (GRCm39) missense probably benign 0.00
R5899:Dock7 UTSW 4 98,879,660 (GRCm39) missense probably benign
R6360:Dock7 UTSW 4 98,857,899 (GRCm39) missense probably benign 0.02
R6415:Dock7 UTSW 4 98,880,685 (GRCm39) missense probably damaging 1.00
R6468:Dock7 UTSW 4 98,855,464 (GRCm39) missense probably benign 0.15
R6562:Dock7 UTSW 4 98,879,647 (GRCm39) missense probably damaging 0.97
R6613:Dock7 UTSW 4 98,866,197 (GRCm39) missense probably damaging 0.99
R6703:Dock7 UTSW 4 98,834,909 (GRCm39) missense probably damaging 1.00
R6723:Dock7 UTSW 4 98,892,153 (GRCm39) missense possibly damaging 0.90
R6786:Dock7 UTSW 4 98,949,529 (GRCm39) missense probably benign 0.42
R7026:Dock7 UTSW 4 98,967,156 (GRCm39) missense probably benign
R7051:Dock7 UTSW 4 98,834,969 (GRCm39) missense probably damaging 1.00
R7074:Dock7 UTSW 4 98,833,445 (GRCm39) missense unknown
R7106:Dock7 UTSW 4 98,855,563 (GRCm39) missense unknown
R7147:Dock7 UTSW 4 98,849,654 (GRCm39) missense unknown
R7257:Dock7 UTSW 4 98,861,649 (GRCm39) missense unknown
R7334:Dock7 UTSW 4 98,864,180 (GRCm39) missense unknown
R7511:Dock7 UTSW 4 98,967,992 (GRCm39) nonsense probably null
R7511:Dock7 UTSW 4 98,949,519 (GRCm39) missense
R7729:Dock7 UTSW 4 98,943,683 (GRCm39) missense
R7928:Dock7 UTSW 4 98,889,335 (GRCm39) missense
R7984:Dock7 UTSW 4 98,877,303 (GRCm39) missense unknown
R8287:Dock7 UTSW 4 98,866,157 (GRCm39) missense unknown
R8439:Dock7 UTSW 4 98,971,266 (GRCm39) missense
R8466:Dock7 UTSW 4 98,952,336 (GRCm39) missense possibly damaging 0.70
R8758:Dock7 UTSW 4 98,949,555 (GRCm39) missense
R8849:Dock7 UTSW 4 98,904,986 (GRCm39) missense
R8944:Dock7 UTSW 4 98,829,243 (GRCm39) missense probably damaging 1.00
R8964:Dock7 UTSW 4 98,949,476 (GRCm39) missense
R9008:Dock7 UTSW 4 98,833,448 (GRCm39) nonsense probably null
R9040:Dock7 UTSW 4 98,889,364 (GRCm39) nonsense probably null
R9160:Dock7 UTSW 4 98,857,962 (GRCm39) missense unknown
R9168:Dock7 UTSW 4 98,953,643 (GRCm39) missense
R9189:Dock7 UTSW 4 98,877,350 (GRCm39) missense unknown
R9215:Dock7 UTSW 4 98,859,088 (GRCm39) missense unknown
R9243:Dock7 UTSW 4 98,857,871 (GRCm39) missense unknown
R9256:Dock7 UTSW 4 98,971,272 (GRCm39) missense
R9328:Dock7 UTSW 4 98,968,064 (GRCm39) missense
R9332:Dock7 UTSW 4 98,896,280 (GRCm39) missense
R9450:Dock7 UTSW 4 98,861,426 (GRCm39) missense unknown
R9584:Dock7 UTSW 4 98,861,481 (GRCm39) nonsense probably null
R9631:Dock7 UTSW 4 98,854,560 (GRCm39) missense unknown
R9676:Dock7 UTSW 4 98,904,922 (GRCm39) missense probably damaging 1.00
R9701:Dock7 UTSW 4 98,846,384 (GRCm39) missense unknown
R9723:Dock7 UTSW 4 98,960,660 (GRCm39) missense
R9723:Dock7 UTSW 4 98,908,270 (GRCm39) missense
R9727:Dock7 UTSW 4 98,875,568 (GRCm39) missense unknown
R9777:Dock7 UTSW 4 98,877,464 (GRCm39) missense unknown
R9802:Dock7 UTSW 4 98,846,384 (GRCm39) missense unknown
X0027:Dock7 UTSW 4 98,892,090 (GRCm39) missense probably damaging 0.99
Z1176:Dock7 UTSW 4 98,833,462 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGTCACAGACGTTCCTCATCAGTG -3'
(R):5'- TGGGAACAGGATTTAACCCCAACAC -3'

Sequencing Primer
(F):5'- GTTCCCAATGTCGTAGTAAGACC -3'
(R):5'- ATCTGATGAAGCTCCCGATG -3'
Posted On 2014-03-28