Incidental Mutation 'R6798:Dchs2'
| ID |
533091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
044911-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R6798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83255593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 2430
(Y2430N)
|
| 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: Y2430N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: Y2430N
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,782,364 (GRCm39) |
Y916H |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,667,834 (GRCm39) |
I740V |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,210,784 (GRCm39) |
D161E |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,703,280 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,737,913 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
A |
1: 139,396,423 (GRCm39) |
H867Q |
possibly damaging |
Het |
| Aurkaip1 |
T |
C |
4: 155,917,196 (GRCm39) |
|
probably null |
Het |
| BC048507 |
A |
C |
13: 68,011,683 (GRCm39) |
D20A |
probably benign |
Het |
| Cacna1a |
G |
A |
8: 85,338,231 (GRCm39) |
A1704T |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,408,447 (GRCm39) |
|
probably null |
Het |
| Cep19 |
T |
C |
16: 31,922,867 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,625,859 (GRCm39) |
T813A |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,778,182 (GRCm39) |
E2731V |
possibly damaging |
Het |
| Chrd |
T |
C |
16: 20,553,056 (GRCm39) |
L139P |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,064,585 (GRCm39) |
E489G |
possibly damaging |
Het |
| Clcn7 |
A |
G |
17: 25,378,734 (GRCm39) |
N720D |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,722,731 (GRCm39) |
|
probably null |
Het |
| Dpy30 |
A |
G |
17: 74,614,751 (GRCm39) |
I64T |
probably damaging |
Het |
| Eif2b3 |
G |
T |
4: 116,923,655 (GRCm39) |
W290L |
probably benign |
Het |
| Epha6 |
T |
G |
16: 60,425,427 (GRCm39) |
E62A |
possibly damaging |
Het |
| Epha6 |
C |
T |
16: 60,425,428 (GRCm39) |
E62K |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,672,980 (GRCm39) |
R268Q |
probably benign |
Het |
| Fbxw17 |
C |
A |
13: 50,587,300 (GRCm39) |
|
probably null |
Het |
| Fndc8 |
C |
T |
11: 82,783,217 (GRCm39) |
T66I |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,284,850 (GRCm39) |
T1224A |
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,259,361 (GRCm39) |
D36G |
probably damaging |
Het |
| Glt28d2 |
T |
C |
3: 85,779,296 (GRCm39) |
D59G |
probably benign |
Het |
| Gorasp1 |
T |
C |
9: 119,758,663 (GRCm39) |
D243G |
probably benign |
Het |
| Gtsf1l |
T |
C |
2: 162,929,391 (GRCm39) |
K31E |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,928,048 (GRCm39) |
V1816A |
probably benign |
Het |
| Il10ra |
T |
C |
9: 45,167,730 (GRCm39) |
K274E |
probably damaging |
Het |
| Il1rl2 |
T |
C |
1: 40,404,400 (GRCm39) |
I507T |
probably damaging |
Het |
| Jak3 |
T |
G |
8: 72,133,615 (GRCm39) |
F408V |
probably damaging |
Het |
| Kdm1b |
A |
G |
13: 47,222,012 (GRCm39) |
T484A |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Map9 |
T |
G |
3: 82,287,471 (GRCm39) |
L31W |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,975,266 (GRCm39) |
|
probably benign |
Het |
| Mt1 |
A |
G |
8: 94,906,516 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,909,252 (GRCm39) |
I1964V |
probably damaging |
Het |
| Nalf1 |
G |
A |
8: 9,820,205 (GRCm39) |
Q272* |
probably null |
Het |
| Nod1 |
A |
T |
6: 54,921,596 (GRCm39) |
C241S |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,937,378 (GRCm39) |
D685V |
probably damaging |
Het |
| Oog1 |
A |
T |
12: 87,655,609 (GRCm39) |
|
probably null |
Het |
| Or11a4 |
T |
G |
17: 37,536,697 (GRCm39) |
L227R |
probably damaging |
Het |
| Or2ag13 |
T |
C |
7: 106,313,402 (GRCm39) |
Y162C |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,584 (GRCm39) |
V30A |
probably benign |
Het |
| Or56b1b |
T |
A |
7: 108,164,967 (GRCm39) |
K12* |
probably null |
Het |
| P4htm |
T |
A |
9: 108,460,117 (GRCm39) |
N219I |
possibly damaging |
Het |
| Pcif1 |
T |
C |
2: 164,727,711 (GRCm39) |
L168P |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,795,850 (GRCm39) |
V46A |
probably benign |
Het |
| Pias1 |
T |
C |
9: 62,799,451 (GRCm39) |
T480A |
probably benign |
Het |
| Prkd2 |
A |
T |
7: 16,583,128 (GRCm39) |
K297* |
probably null |
Het |
| Prl7d1 |
T |
A |
13: 27,893,380 (GRCm39) |
|
probably null |
Het |
| Pxdc1 |
G |
T |
13: 34,836,408 (GRCm39) |
A4E |
possibly damaging |
Het |
| Rcor1 |
A |
G |
12: 111,006,320 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,730,759 (GRCm39) |
D2761V |
probably damaging |
Het |
| Scgb1b7 |
A |
G |
7: 31,412,406 (GRCm39) |
T61A |
probably damaging |
Het |
| Sec14l2 |
A |
G |
11: 4,061,213 (GRCm39) |
Y83H |
probably damaging |
Het |
| Setd4 |
C |
A |
16: 93,386,841 (GRCm39) |
V286F |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,137,968 (GRCm39) |
S536P |
probably benign |
Het |
| Snx25 |
T |
C |
8: 46,486,810 (GRCm39) |
H977R |
probably damaging |
Het |
| Spint5 |
T |
A |
2: 164,559,060 (GRCm39) |
C95* |
probably null |
Het |
| Sprr5 |
G |
C |
3: 92,440,243 (GRCm39) |
C65W |
unknown |
Het |
| Srgap1 |
T |
C |
10: 121,761,809 (GRCm39) |
D113G |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,691,180 (GRCm39) |
S476T |
probably benign |
Het |
| Tg |
A |
G |
15: 66,550,688 (GRCm39) |
T273A |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,883,841 (GRCm39) |
R1868H |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,024,665 (GRCm39) |
Y1155H |
probably benign |
Het |
| Trpm2 |
T |
A |
10: 77,750,574 (GRCm39) |
N1341Y |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfand1 |
T |
G |
3: 10,411,236 (GRCm39) |
K67T |
probably benign |
Het |
| Zfand4 |
A |
C |
6: 116,305,214 (GRCm39) |
K214Q |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,968,668 (GRCm39) |
V465E |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,060 (GRCm39) |
Y782C |
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 |
|
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'- TTGCTATCAGTCAGGACACTG -3'
(R):5'- GCTGACTTCACTTGCCACTG -3'
Sequencing Primer
(F):5'- CACTGGAGTGGTGGTGC -3'
(R):5'- TTGTGTCTCAGGTACATGCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation