Incidental Mutation 'R8957:Dchs2'
| ID |
682079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
068793-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R8957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83189573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 1646
(V1646M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000191829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: V1646M
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
A |
G |
5: 114,951,891 (GRCm39) |
V28A |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,360,784 (GRCm39) |
D503V |
possibly damaging |
Het |
| Aco2 |
A |
T |
15: 81,773,701 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,981,634 (GRCm39) |
Q591R |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,379,121 (GRCm39) |
A7T |
possibly damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,291,491 (GRCm39) |
N1314S |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,969,572 (GRCm39) |
M216K |
probably benign |
Het |
| Armh1 |
T |
C |
4: 117,087,104 (GRCm39) |
Y187C |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,576,208 (GRCm39) |
A821E |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,543,701 (GRCm39) |
D650G |
probably null |
Het |
| Cav1 |
T |
A |
6: 17,339,235 (GRCm39) |
F107I |
probably benign |
Het |
| Ccdc146 |
A |
G |
5: 21,514,585 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
A |
G |
11: 120,776,861 (GRCm39) |
I513T |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 110,884,557 (GRCm39) |
R314G |
probably benign |
Het |
| Cd1d1 |
T |
C |
3: 86,906,140 (GRCm39) |
D45G |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Col4a1 |
T |
A |
8: 11,295,906 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
C |
T |
5: 121,999,011 (GRCm39) |
G1310R |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,432,410 (GRCm39) |
R136L |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Des |
A |
T |
1: 75,340,295 (GRCm39) |
I401F |
probably damaging |
Het |
| Dis3 |
T |
C |
14: 99,337,027 (GRCm39) |
D28G |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,953,950 (GRCm39) |
D83G |
probably damaging |
Het |
| Ehd1 |
A |
G |
19: 6,344,439 (GRCm39) |
Y233C |
probably damaging |
Het |
| Fcrlb |
G |
A |
1: 170,735,536 (GRCm39) |
A246V |
probably benign |
Het |
| Firrm |
C |
T |
1: 163,792,335 (GRCm39) |
R554H |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,489,541 (GRCm39) |
R357G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,575,354 (GRCm39) |
D420G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,873,757 (GRCm39) |
|
probably null |
Het |
| Hdhd5 |
C |
T |
6: 120,495,404 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
G |
A |
13: 95,772,154 (GRCm39) |
R1342C |
probably damaging |
Het |
| Isyna1 |
T |
G |
8: 71,049,372 (GRCm39) |
L428R |
probably damaging |
Het |
| Jmjd4 |
C |
T |
11: 59,340,884 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
G |
6: 130,357,609 (GRCm39) |
V6A |
possibly damaging |
Het |
| Klrb1b |
T |
A |
6: 128,795,522 (GRCm39) |
K124N |
probably benign |
Het |
| Krtap19-3 |
T |
C |
16: 88,674,833 (GRCm39) |
|
probably benign |
Het |
| Lrrc74b |
T |
C |
16: 17,378,976 (GRCm39) |
T34A |
probably benign |
Het |
| Map9 |
A |
G |
3: 82,278,687 (GRCm39) |
Y229C |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,334,636 (GRCm39) |
I373V |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,251,216 (GRCm39) |
Y1086* |
probably null |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,780 (GRCm39) |
K880E |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,220,964 (GRCm39) |
V1656G |
probably damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,382 (GRCm39) |
V247A |
probably damaging |
Het |
| Or1a1 |
T |
A |
11: 74,086,772 (GRCm39) |
S148T |
probably damaging |
Het |
| Or5b101 |
T |
A |
19: 13,004,881 (GRCm39) |
I271F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,596,911 (GRCm39) |
W100R |
probably benign |
Het |
| Pcdhb11 |
A |
C |
18: 37,554,692 (GRCm39) |
K7N |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,872 (GRCm39) |
T401A |
probably benign |
Het |
| Pgam1 |
T |
A |
19: 41,905,215 (GRCm39) |
I183N |
possibly damaging |
Het |
| Pou5f1 |
T |
G |
17: 35,821,366 (GRCm39) |
L326R |
possibly damaging |
Het |
| Rbm34 |
A |
C |
8: 127,692,208 (GRCm39) |
V178G |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,289,660 (GRCm39) |
V384A |
possibly damaging |
Het |
| Sec62 |
T |
A |
3: 30,864,671 (GRCm39) |
F178L |
unknown |
Het |
| Slco1a6 |
T |
C |
6: 142,091,493 (GRCm39) |
N69S |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,453,873 (GRCm39) |
L11Q |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,113 (GRCm39) |
S255P |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,124,908 (GRCm39) |
Y2701H |
probably benign |
Het |
| Tesk2 |
T |
A |
4: 116,659,910 (GRCm39) |
F343I |
probably benign |
Het |
| Tmem106c |
A |
T |
15: 97,867,481 (GRCm39) |
I222F |
probably benign |
Het |
| Tmub1 |
G |
T |
5: 24,651,775 (GRCm39) |
T63K |
probably benign |
Het |
| Tnip3 |
A |
G |
6: 65,582,843 (GRCm39) |
T217A |
probably benign |
Het |
| Vmn2r10 |
T |
G |
5: 109,149,780 (GRCm39) |
K421N |
possibly damaging |
Het |
| Zfp975 |
A |
T |
7: 42,311,157 (GRCm39) |
H485Q |
probably damaging |
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 |
|
R6379:Dchs2
|
UTSW |
3 |
83,262,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GGTGATTTTGGATGTGAATGACCAC -3'
(R):5'- TGGGAGGCAGTGACAATGTC -3'
Sequencing Primer
(F):5'- TGTGAATGACCACAGCCC -3'
(R):5'- GTTGCACAGCACTGAGTTCACAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation