Incidental Mutation 'R6379:Dchs2'
| ID |
515182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.456)
|
| Stock # |
R6379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 83262453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 2907
(N2907T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000191829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191829
AA Change: N2907T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: N2907T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
CA
|
70 |
149 |
1.6e-8 |
SMART |
|
CA
|
173 |
278 |
1.9e-9 |
SMART |
|
CA
|
302 |
395 |
2e-33 |
SMART |
|
CA
|
423 |
522 |
3.2e-7 |
SMART |
|
CA
|
546 |
642 |
1.1e-29 |
SMART |
|
CA
|
666 |
750 |
5.6e-22 |
SMART |
|
CA
|
774 |
855 |
1.5e-8 |
SMART |
|
CA
|
876 |
958 |
4.2e-19 |
SMART |
|
CA
|
982 |
1060 |
3e-8 |
SMART |
|
CA
|
1067 |
1168 |
9.3e-7 |
SMART |
|
CA
|
1192 |
1271 |
1.1e-28 |
SMART |
|
CA
|
1299 |
1379 |
4e-16 |
SMART |
|
CA
|
1403 |
1486 |
6.1e-16 |
SMART |
|
CA
|
1510 |
1596 |
3.5e-18 |
SMART |
|
CA
|
1619 |
1700 |
4.4e-27 |
SMART |
|
CA
|
1724 |
1805 |
6.4e-27 |
SMART |
|
CA
|
1828 |
1909 |
4.3e-29 |
SMART |
|
CA
|
1933 |
2014 |
3.4e-27 |
SMART |
|
CA
|
2038 |
2116 |
4.2e-7 |
SMART |
|
CA
|
2139 |
2218 |
2.5e-15 |
SMART |
|
CA
|
2242 |
2323 |
2.1e-34 |
SMART |
|
CA
|
2346 |
2423 |
3e-24 |
SMART |
|
CA
|
2447 |
2525 |
2e-17 |
SMART |
|
CA
|
2549 |
2641 |
9.8e-16 |
SMART |
|
CA
|
2665 |
2745 |
2.3e-24 |
SMART |
|
CA
|
2769 |
2856 |
5.9e-19 |
SMART |
|
CA
|
2880 |
2959 |
1e-3 |
SMART |
|
transmembrane domain
|
2973 |
2995 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
T |
2: 152,269,912 (GRCm39) |
R21S |
probably benign |
Het |
| Aadacl4fm1 |
G |
T |
4: 144,248,912 (GRCm39) |
R93L |
probably benign |
Het |
| Adcy5 |
A |
T |
16: 35,114,369 (GRCm39) |
T991S |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,566,214 (GRCm39) |
|
probably null |
Het |
| Anxa1 |
T |
C |
19: 20,351,079 (GRCm39) |
*347W |
probably null |
Het |
| Aopep |
T |
A |
13: 63,216,057 (GRCm39) |
I443K |
probably damaging |
Het |
| Arid1a |
G |
T |
4: 133,408,238 (GRCm39) |
L2090I |
unknown |
Het |
| Armh3 |
A |
T |
19: 45,910,136 (GRCm39) |
V472D |
possibly damaging |
Het |
| Bambi |
T |
A |
18: 3,512,198 (GRCm39) |
L194Q |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,246,789 (GRCm39) |
V353A |
probably damaging |
Het |
| Ccdc198 |
T |
A |
14: 49,481,191 (GRCm39) |
I99F |
probably benign |
Het |
| Ccdc60 |
C |
A |
5: 116,269,082 (GRCm39) |
|
probably null |
Het |
| Ccdc71 |
A |
G |
9: 108,340,811 (GRCm39) |
K208R |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,492,743 (GRCm39) |
V254A |
probably benign |
Het |
| Cep295nl |
T |
A |
11: 118,224,556 (GRCm39) |
N96I |
probably benign |
Het |
| Ces1f |
C |
A |
8: 94,006,279 (GRCm39) |
C17F |
probably benign |
Het |
| Clic6 |
C |
A |
16: 92,336,423 (GRCm39) |
T577K |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,012,996 (GRCm39) |
M1019V |
probably benign |
Het |
| Ctnnd2 |
C |
A |
15: 30,634,844 (GRCm39) |
S73Y |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 71,998,712 (GRCm39) |
L556F |
unknown |
Het |
| Dlgap3 |
A |
C |
4: 127,128,767 (GRCm39) |
E829A |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,935,317 (GRCm39) |
|
probably null |
Het |
| Draxin |
C |
A |
4: 148,192,400 (GRCm39) |
C304F |
probably damaging |
Het |
| Eif3j1 |
A |
G |
2: 121,878,005 (GRCm39) |
D131G |
possibly damaging |
Het |
| Fads1 |
T |
C |
19: 10,160,551 (GRCm39) |
Y46H |
probably damaging |
Het |
| Fcgbpl1 |
A |
C |
7: 27,857,017 (GRCm39) |
T2122P |
probably damaging |
Het |
| Figla |
T |
A |
6: 85,995,562 (GRCm39) |
I72K |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,581,468 (GRCm39) |
S174T |
probably benign |
Het |
| Foxn3 |
C |
A |
12: 99,162,537 (GRCm39) |
A455S |
probably benign |
Het |
| Fyn |
C |
T |
10: 39,331,070 (GRCm39) |
|
probably benign |
Het |
| Gtse1 |
G |
A |
15: 85,748,425 (GRCm39) |
G277S |
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,938,588 (GRCm39) |
V99E |
probably benign |
Het |
| Icam4 |
C |
A |
9: 20,941,078 (GRCm39) |
A110E |
probably damaging |
Het |
| Itih3 |
G |
A |
14: 30,631,681 (GRCm39) |
S802L |
probably damaging |
Het |
| Kcng4 |
T |
A |
8: 120,360,359 (GRCm39) |
R6* |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,564,339 (GRCm39) |
C977S |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,960,675 (GRCm39) |
M362L |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,014,008 (GRCm39) |
I267T |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,520,156 (GRCm39) |
V275A |
probably damaging |
Het |
| Nfasc |
G |
A |
1: 132,498,280 (GRCm39) |
Q1308* |
probably null |
Het |
| Nop9 |
T |
C |
14: 55,983,249 (GRCm39) |
S7P |
possibly damaging |
Het |
| Npbwr1 |
G |
T |
1: 5,987,438 (GRCm39) |
N25K |
probably benign |
Het |
| Nptx2 |
T |
C |
5: 144,490,252 (GRCm39) |
L227P |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 33,373,749 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,532,753 (GRCm39) |
C571* |
probably null |
Het |
| Nynrin |
T |
C |
14: 56,107,848 (GRCm39) |
L985P |
probably damaging |
Het |
| Obsl1 |
A |
C |
1: 75,479,787 (GRCm39) |
L341R |
probably damaging |
Het |
| Or1r1 |
T |
G |
11: 73,875,099 (GRCm39) |
S112R |
probably damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,381 (GRCm39) |
|
probably benign |
Het |
| Phip |
G |
T |
9: 82,795,910 (GRCm39) |
N570K |
probably damaging |
Het |
| Pigx |
A |
T |
16: 31,903,341 (GRCm39) |
I240N |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,854,051 (GRCm39) |
D37G |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,915,555 (GRCm39) |
M639K |
probably benign |
Het |
| Scnn1b |
T |
G |
7: 121,514,551 (GRCm39) |
M441R |
probably benign |
Het |
| Sh3gl1 |
A |
T |
17: 56,326,143 (GRCm39) |
M121K |
probably damaging |
Het |
| Slc30a4 |
A |
T |
2: 122,531,469 (GRCm39) |
V132D |
probably damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,575,155 (GRCm39) |
S42P |
probably benign |
Het |
| Slc66a1 |
G |
A |
4: 139,027,296 (GRCm39) |
L349F |
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,156,227 (GRCm39) |
C172R |
probably damaging |
Het |
| Suz12 |
A |
T |
11: 79,906,014 (GRCm39) |
D292V |
possibly damaging |
Het |
| Sv2b |
A |
T |
7: 74,786,048 (GRCm39) |
D457E |
possibly damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,773 (GRCm39) |
V285A |
probably benign |
Het |
| Tdo2 |
T |
A |
3: 81,866,102 (GRCm39) |
|
probably benign |
Het |
| Them7 |
G |
T |
2: 105,115,031 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
T |
C |
5: 34,660,979 (GRCm39) |
T158A |
probably damaging |
Het |
| Tonsl |
C |
T |
15: 76,513,942 (GRCm39) |
R1209H |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,745,298 (GRCm39) |
L838* |
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,848,942 (GRCm39) |
I63V |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,814,828 (GRCm39) |
N90K |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,077,574 (GRCm39) |
S1433F |
probably damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,275,141 (GRCm39) |
D158G |
probably damaging |
Het |
| Zfhx2 |
T |
A |
14: 55,311,795 (GRCm39) |
T300S |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,513,085 (GRCm39) |
D23E |
probably benign |
Het |
|
| Other mutations in Dchs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1707:Dchs2
|
UTSW |
3 |
83,034,912 (GRCm39) |
unclassified |
probably benign |
|
|
R5857:Dchs2
|
UTSW |
3 |
83,177,620 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5897:Dchs2
|
UTSW |
3 |
83,192,717 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5959:Dchs2
|
UTSW |
3 |
83,232,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6007:Dchs2
|
UTSW |
3 |
83,253,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6054:Dchs2
|
UTSW |
3 |
83,253,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6059:Dchs2
|
UTSW |
3 |
83,263,043 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6075:Dchs2
|
UTSW |
3 |
83,262,368 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6393:Dchs2
|
UTSW |
3 |
83,037,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6405:Dchs2
|
UTSW |
3 |
83,261,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6432:Dchs2
|
UTSW |
3 |
83,178,425 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6434:Dchs2
|
UTSW |
3 |
83,176,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6561:Dchs2
|
UTSW |
3 |
83,036,476 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6798:Dchs2
|
UTSW |
3 |
83,255,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6801:Dchs2
|
UTSW |
3 |
83,035,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6855:Dchs2
|
UTSW |
3 |
83,255,501 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6956:Dchs2
|
UTSW |
3 |
83,261,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7090:Dchs2
|
UTSW |
3 |
83,255,581 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7249:Dchs2
|
UTSW |
3 |
83,035,336 (GRCm39) |
nonsense |
probably null |
|
|
R7252:Dchs2
|
UTSW |
3 |
83,232,610 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7462:Dchs2
|
UTSW |
3 |
83,253,462 (GRCm39) |
splice site |
probably null |
|
|
R7482:Dchs2
|
UTSW |
3 |
83,156,032 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7487:Dchs2
|
UTSW |
3 |
83,263,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7529:Dchs2
|
UTSW |
3 |
83,261,705 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7542:Dchs2
|
UTSW |
3 |
83,176,591 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7544:Dchs2
|
UTSW |
3 |
83,262,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7547:Dchs2
|
UTSW |
3 |
83,263,434 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7587:Dchs2
|
UTSW |
3 |
83,211,822 (GRCm39) |
missense |
probably benign |
|
|
R7632:Dchs2
|
UTSW |
3 |
83,255,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7694:Dchs2
|
UTSW |
3 |
83,036,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7701:Dchs2
|
UTSW |
3 |
83,253,513 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7746:Dchs2
|
UTSW |
3 |
83,035,364 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7838:Dchs2
|
UTSW |
3 |
83,211,834 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7886:Dchs2
|
UTSW |
3 |
83,212,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8055:Dchs2
|
UTSW |
3 |
83,037,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8068:Dchs2
|
UTSW |
3 |
83,207,745 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8094:Dchs2
|
UTSW |
3 |
83,262,929 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8160:Dchs2
|
UTSW |
3 |
83,178,112 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8166:Dchs2
|
UTSW |
3 |
83,261,640 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8278:Dchs2
|
UTSW |
3 |
83,178,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8422:Dchs2
|
UTSW |
3 |
83,232,570 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8506:Dchs2
|
UTSW |
3 |
83,208,481 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8517:Dchs2
|
UTSW |
3 |
83,178,419 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8528:Dchs2
|
UTSW |
3 |
83,261,918 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8693:Dchs2
|
UTSW |
3 |
83,192,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Dchs2
|
UTSW |
3 |
83,036,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8757:Dchs2
|
UTSW |
3 |
83,261,567 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8768:Dchs2
|
UTSW |
3 |
83,253,592 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8776:Dchs2
|
UTSW |
3 |
83,263,701 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8776-TAIL:Dchs2
|
UTSW |
3 |
83,263,701 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8802:Dchs2
|
UTSW |
3 |
83,253,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8821:Dchs2
|
UTSW |
3 |
83,192,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8831:Dchs2
|
UTSW |
3 |
83,192,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8897:Dchs2
|
UTSW |
3 |
83,036,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Dchs2
|
UTSW |
3 |
83,189,573 (GRCm39) |
missense |
|
|
|
R8973:Dchs2
|
UTSW |
3 |
83,261,763 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8991:Dchs2
|
UTSW |
3 |
83,036,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9015:Dchs2
|
UTSW |
3 |
83,188,751 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9051:Dchs2
|
UTSW |
3 |
83,261,493 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9117:Dchs2
|
UTSW |
3 |
83,176,662 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9120:Dchs2
|
UTSW |
3 |
83,187,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9189:Dchs2
|
UTSW |
3 |
83,255,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Dchs2
|
UTSW |
3 |
83,177,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9280:Dchs2
|
UTSW |
3 |
83,189,255 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9293:Dchs2
|
UTSW |
3 |
83,189,361 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9322:Dchs2
|
UTSW |
3 |
83,189,001 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9345:Dchs2
|
UTSW |
3 |
83,036,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9408:Dchs2
|
UTSW |
3 |
83,192,573 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9432:Dchs2
|
UTSW |
3 |
83,036,032 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9445:Dchs2
|
UTSW |
3 |
83,146,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9466:Dchs2
|
UTSW |
3 |
83,176,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Dchs2
|
UTSW |
3 |
83,178,193 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9622:Dchs2
|
UTSW |
3 |
83,263,766 (GRCm39) |
nonsense |
probably null |
|
|
R9679:Dchs2
|
UTSW |
3 |
83,261,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9722:Dchs2
|
UTSW |
3 |
83,261,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9767:Dchs2
|
UTSW |
3 |
83,212,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF012:Dchs2
|
UTSW |
3 |
83,262,375 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Dchs2
|
UTSW |
3 |
83,178,447 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTCAGGCCAAAGACAG -3'
(R):5'- GTCCTTCAGCTGGCAAAGAG -3'
Sequencing Primer
(F):5'- GATGCCTCAGCTTCTCTGGAG -3'
(R):5'- TTCAGCTGGCAAAGAGACATTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation