Incidental Mutation 'R0058:Dock5'
| ID |
34371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dock5
|
| Ensembl Gene |
ENSMUSG00000044447 |
| Gene Name |
dedicator of cytokinesis 5 |
| Synonyms |
1110060D06Rik, rlc, lr2 |
| MMRRC Submission |
038352-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R0058 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67989584-68170891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68018485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 1230
(F1230Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039135]
|
| AlphaFold |
B2RY04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039135
AA Change: F1230Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: F1230Y
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
11 |
68 |
1.45e-13 |
SMART |
|
Pfam:DOCK_N
|
71 |
434 |
9e-110 |
PFAM |
|
Pfam:DOCK-C2
|
439 |
636 |
1.1e-57 |
PFAM |
|
low complexity region
|
752 |
764 |
N/A |
INTRINSIC |
|
Pfam:DHR-2
|
1133 |
1635 |
6.4e-99 |
PFAM |
|
low complexity region
|
1663 |
1692 |
N/A |
INTRINSIC |
|
low complexity region
|
1815 |
1824 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1450 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
100% (74/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mutations at this locus result in lens abnormalities involving cataracts and rupturing of the lens nucleus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
T |
G |
5: 137,289,104 (GRCm39) |
V270G |
probably damaging |
Het |
| Acss1 |
A |
T |
2: 150,470,459 (GRCm39) |
W394R |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,330,791 (GRCm39) |
V6088A |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,580,691 (GRCm39) |
|
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,361,141 (GRCm39) |
Y84N |
probably damaging |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Avpr1b |
A |
G |
1: 131,527,524 (GRCm39) |
T16A |
probably benign |
Het |
| Bpifb1 |
G |
A |
2: 154,048,460 (GRCm39) |
R165H |
possibly damaging |
Het |
| Cables1 |
A |
G |
18: 12,056,470 (GRCm39) |
E316G |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,761,629 (GRCm39) |
I427L |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,415,405 (GRCm39) |
D86G |
probably benign |
Het |
| Cgnl1 |
C |
A |
9: 71,548,679 (GRCm39) |
D1081Y |
probably damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,122 (GRCm39) |
R410W |
probably damaging |
Het |
| Cntnap4 |
G |
A |
8: 113,512,416 (GRCm39) |
E593K |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,097,415 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,113,121 (GRCm39) |
E1512G |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,490 (GRCm39) |
V1171M |
possibly damaging |
Het |
| Dym |
G |
A |
18: 75,176,243 (GRCm39) |
E15K |
possibly damaging |
Het |
| Ednra |
C |
A |
8: 78,393,951 (GRCm39) |
|
probably null |
Het |
| Faf1 |
A |
G |
4: 109,593,821 (GRCm39) |
Q133R |
probably benign |
Het |
| Fbxw28 |
A |
G |
9: 109,157,279 (GRCm39) |
I323T |
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,738,111 (GRCm39) |
|
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,713,893 (GRCm39) |
S204R |
probably benign |
Het |
| Frmd4b |
A |
G |
6: 97,400,460 (GRCm39) |
V63A |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,213,985 (GRCm39) |
A356T |
possibly damaging |
Het |
| Ghitm |
A |
G |
14: 36,853,549 (GRCm39) |
L97P |
probably damaging |
Het |
| Gins4 |
A |
G |
8: 23,719,526 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,350,643 (GRCm39) |
F766Y |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
| Helz |
A |
T |
11: 107,563,384 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,820,231 (GRCm39) |
V2851A |
possibly damaging |
Het |
| Igkv8-18 |
G |
A |
6: 70,333,105 (GRCm39) |
|
probably benign |
Het |
| Igll1 |
A |
T |
16: 16,681,740 (GRCm39) |
V5E |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,527,168 (GRCm39) |
T179A |
possibly damaging |
Het |
| Kif16b |
A |
G |
2: 142,699,225 (GRCm39) |
|
probably null |
Het |
| Limk1 |
A |
T |
5: 134,688,725 (GRCm39) |
W507R |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mtif3 |
C |
A |
5: 146,893,731 (GRCm39) |
V159F |
probably benign |
Het |
| Myh6 |
C |
T |
14: 55,200,861 (GRCm39) |
R169Q |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,523,537 (GRCm39) |
D887V |
probably damaging |
Het |
| Obox7 |
C |
T |
7: 14,398,313 (GRCm39) |
P76S |
probably benign |
Het |
| Or10ak12 |
A |
G |
4: 118,666,677 (GRCm39) |
M128T |
probably benign |
Het |
| Or11l3 |
A |
T |
11: 58,516,494 (GRCm39) |
I126N |
probably damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,262,093 (GRCm39) |
A862V |
probably damaging |
Het |
| Pkd1 |
G |
C |
17: 24,783,677 (GRCm39) |
A162P |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,628 (GRCm39) |
D309G |
possibly damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,307 (GRCm39) |
V401A |
probably benign |
Het |
| Prdx3 |
T |
C |
19: 60,862,950 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,526,453 (GRCm39) |
V253I |
unknown |
Het |
| Ranbp2 |
T |
A |
10: 58,316,353 (GRCm39) |
S2358T |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,423,494 (GRCm39) |
V2183E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,432,953 (GRCm39) |
S232C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,904,012 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,574,909 (GRCm39) |
I531T |
probably benign |
Het |
| Slc36a1 |
C |
T |
11: 55,112,820 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
C |
A |
8: 46,249,300 (GRCm39) |
D831E |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,238,291 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
C |
2: 29,883,708 (GRCm39) |
|
probably null |
Het |
| Stam |
T |
C |
2: 14,142,952 (GRCm39) |
C336R |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,898,495 (GRCm39) |
A1042S |
probably damaging |
Het |
| Stxbp5l |
T |
A |
16: 36,962,736 (GRCm39) |
D773V |
possibly damaging |
Het |
| Sugct |
A |
T |
13: 17,847,166 (GRCm39) |
L39Q |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,071,522 (GRCm39) |
V2041A |
possibly damaging |
Het |
| Tex15 |
C |
T |
8: 34,071,530 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
T |
G |
9: 106,102,164 (GRCm39) |
L485R |
possibly damaging |
Het |
| Tmem207 |
A |
G |
16: 26,343,579 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
T |
C |
8: 43,638,306 (GRCm39) |
|
probably benign |
Het |
| Trip6 |
A |
G |
5: 137,309,107 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,705,465 (GRCm39) |
F288L |
probably benign |
Het |
| Vmn1r179 |
C |
T |
7: 23,628,592 (GRCm39) |
T261I |
possibly damaging |
Het |
| Zfp644 |
A |
T |
5: 106,784,869 (GRCm39) |
S559R |
possibly damaging |
Het |
|
| Other mutations in Dock5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Dock5
|
APN |
14 |
68,024,338 (GRCm39) |
splice site |
probably benign |
|
|
IGL00930:Dock5
|
APN |
14 |
68,008,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01525:Dock5
|
APN |
14 |
68,043,169 (GRCm39) |
splice site |
probably benign |
|
|
IGL01759:Dock5
|
APN |
14 |
68,118,708 (GRCm39) |
nonsense |
probably null |
|
|
IGL01941:Dock5
|
APN |
14 |
68,049,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02025:Dock5
|
APN |
14 |
68,000,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02093:Dock5
|
APN |
14 |
68,076,992 (GRCm39) |
splice site |
probably benign |
|
|
IGL02179:Dock5
|
APN |
14 |
68,043,945 (GRCm39) |
splice site |
probably benign |
|
|
IGL02208:Dock5
|
APN |
14 |
68,065,899 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02605:Dock5
|
APN |
14 |
68,065,887 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02608:Dock5
|
APN |
14 |
68,065,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02938:Dock5
|
APN |
14 |
67,994,667 (GRCm39) |
splice site |
probably benign |
|
|
IGL02971:Dock5
|
APN |
14 |
67,994,558 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02983:Dock5
|
APN |
14 |
68,002,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03151:Dock5
|
APN |
14 |
68,103,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Dock5
|
APN |
14 |
68,083,535 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4366001:Dock5
|
UTSW |
14 |
68,062,123 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0026:Dock5
|
UTSW |
14 |
68,083,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0058:Dock5
|
UTSW |
14 |
68,018,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0112:Dock5
|
UTSW |
14 |
68,057,090 (GRCm39) |
missense |
probably benign |
|
|
R0127:Dock5
|
UTSW |
14 |
68,083,491 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0144:Dock5
|
UTSW |
14 |
68,023,735 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0312:Dock5
|
UTSW |
14 |
68,033,440 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0360:Dock5
|
UTSW |
14 |
68,060,129 (GRCm39) |
splice site |
probably benign |
|
|
R0364:Dock5
|
UTSW |
14 |
68,060,129 (GRCm39) |
splice site |
probably benign |
|
|
R0496:Dock5
|
UTSW |
14 |
68,054,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Dock5
|
UTSW |
14 |
68,022,241 (GRCm39) |
splice site |
probably benign |
|
|
R0586:Dock5
|
UTSW |
14 |
68,046,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Dock5
|
UTSW |
14 |
68,022,383 (GRCm39) |
splice site |
probably null |
|
|
R0625:Dock5
|
UTSW |
14 |
68,078,612 (GRCm39) |
missense |
probably benign |
|
|
R1109:Dock5
|
UTSW |
14 |
68,043,927 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1221:Dock5
|
UTSW |
14 |
67,996,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1278:Dock5
|
UTSW |
14 |
68,077,015 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1927:Dock5
|
UTSW |
14 |
68,083,511 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1944:Dock5
|
UTSW |
14 |
67,994,584 (GRCm39) |
nonsense |
probably null |
|
|
R1946:Dock5
|
UTSW |
14 |
68,023,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Dock5
|
UTSW |
14 |
68,049,591 (GRCm39) |
missense |
probably benign |
|
|
R2101:Dock5
|
UTSW |
14 |
68,031,459 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2252:Dock5
|
UTSW |
14 |
68,022,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2882:Dock5
|
UTSW |
14 |
68,077,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3110:Dock5
|
UTSW |
14 |
68,095,371 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3112:Dock5
|
UTSW |
14 |
68,095,371 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4236:Dock5
|
UTSW |
14 |
67,993,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4242:Dock5
|
UTSW |
14 |
68,065,939 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4244:Dock5
|
UTSW |
14 |
68,012,031 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4646:Dock5
|
UTSW |
14 |
68,080,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4793:Dock5
|
UTSW |
14 |
68,037,803 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4841:Dock5
|
UTSW |
14 |
68,055,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4842:Dock5
|
UTSW |
14 |
68,055,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5159:Dock5
|
UTSW |
14 |
68,029,738 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5164:Dock5
|
UTSW |
14 |
68,055,110 (GRCm39) |
nonsense |
probably null |
|
|
R5206:Dock5
|
UTSW |
14 |
68,000,633 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5207:Dock5
|
UTSW |
14 |
68,013,733 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5322:Dock5
|
UTSW |
14 |
68,007,715 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5374:Dock5
|
UTSW |
14 |
68,043,205 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5413:Dock5
|
UTSW |
14 |
68,002,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Dock5
|
UTSW |
14 |
68,051,456 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5504:Dock5
|
UTSW |
14 |
68,040,535 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5677:Dock5
|
UTSW |
14 |
68,015,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5773:Dock5
|
UTSW |
14 |
68,033,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5845:Dock5
|
UTSW |
14 |
68,078,550 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5957:Dock5
|
UTSW |
14 |
68,095,443 (GRCm39) |
missense |
probably benign |
|
|
R6154:Dock5
|
UTSW |
14 |
68,097,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6268:Dock5
|
UTSW |
14 |
68,027,724 (GRCm39) |
nonsense |
probably null |
|
|
R6393:Dock5
|
UTSW |
14 |
68,060,051 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6512:Dock5
|
UTSW |
14 |
68,062,097 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6759:Dock5
|
UTSW |
14 |
68,033,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7012:Dock5
|
UTSW |
14 |
68,060,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Dock5
|
UTSW |
14 |
68,007,703 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7196:Dock5
|
UTSW |
14 |
67,993,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7200:Dock5
|
UTSW |
14 |
68,009,151 (GRCm39) |
nonsense |
probably null |
|
|
R7311:Dock5
|
UTSW |
14 |
68,065,951 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7359:Dock5
|
UTSW |
14 |
68,003,337 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7422:Dock5
|
UTSW |
14 |
68,046,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7588:Dock5
|
UTSW |
14 |
68,000,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7637:Dock5
|
UTSW |
14 |
68,023,789 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7709:Dock5
|
UTSW |
14 |
68,033,454 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7763:Dock5
|
UTSW |
14 |
68,058,776 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8044:Dock5
|
UTSW |
14 |
68,062,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8076:Dock5
|
UTSW |
14 |
68,040,426 (GRCm39) |
splice site |
probably null |
|
|
R8168:Dock5
|
UTSW |
14 |
68,007,646 (GRCm39) |
splice site |
probably null |
|
|
R8353:Dock5
|
UTSW |
14 |
68,054,957 (GRCm39) |
splice site |
probably null |
|
|
R8480:Dock5
|
UTSW |
14 |
68,073,859 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8535:Dock5
|
UTSW |
14 |
68,031,425 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8708:Dock5
|
UTSW |
14 |
68,004,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8732:Dock5
|
UTSW |
14 |
68,083,449 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8888:Dock5
|
UTSW |
14 |
68,055,112 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8895:Dock5
|
UTSW |
14 |
68,055,112 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8936:Dock5
|
UTSW |
14 |
68,083,439 (GRCm39) |
nonsense |
probably null |
|
|
R8962:Dock5
|
UTSW |
14 |
67,994,640 (GRCm39) |
missense |
probably benign |
|
|
R8972:Dock5
|
UTSW |
14 |
68,013,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9244:Dock5
|
UTSW |
14 |
67,996,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9345:Dock5
|
UTSW |
14 |
68,060,071 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9679:Dock5
|
UTSW |
14 |
68,018,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Dock5
|
UTSW |
14 |
68,008,537 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Dock5
|
UTSW |
14 |
68,051,382 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGAATCTATCGAAGTAGCAGCAG -3'
(R):5'- TGCAGAAGCTCCGCATGTAAGAAG -3'
Sequencing Primer
(F):5'- TCGAAGTAGCAGCAGTACTCTTG -3'
(R):5'- agaagacacacacgcttgg -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation