Incidental Mutation 'R6393:Dchs2'
| ID |
515853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
044542-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R6393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83037218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 655
(E655G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000191829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000047876
|
| SMART Domains |
Protein: ENSMUSP00000046644
Gene: ENSMUSG00000074517
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
127 |
N/A |
INTRINSIC |
|
transmembrane domain
|
137 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191829
AA Change: E655G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: E655G
| 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 |
|
| Meta Mutation Damage Score |
0.3523 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,856,690 (GRCm39) |
Q14R |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,255,721 (GRCm39) |
D430G |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,393,894 (GRCm39) |
|
probably null |
Het |
| Akirin1 |
T |
G |
4: 123,637,324 (GRCm39) |
Q87P |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,723,406 (GRCm39) |
R974C |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,354,498 (GRCm39) |
I804V |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,130,527 (GRCm39) |
L437Q |
possibly damaging |
Het |
| Atp8a2 |
G |
T |
14: 60,011,204 (GRCm39) |
Y967* |
probably null |
Het |
| Calcr |
A |
G |
6: 3,708,586 (GRCm39) |
L200S |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,916,828 (GRCm39) |
V528D |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,821,407 (GRCm39) |
Y1296H |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,302,063 (GRCm39) |
R28C |
possibly damaging |
Het |
| Clrn1 |
A |
G |
3: 58,753,741 (GRCm39) |
F207L |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,562,767 (GRCm39) |
T1772A |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,360,491 (GRCm39) |
T1744A |
probably benign |
Het |
| Dnajb3 |
T |
A |
1: 88,133,384 (GRCm39) |
E6V |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,060,051 (GRCm39) |
P463S |
probably benign |
Het |
| Eif4a3l1 |
A |
G |
6: 136,305,596 (GRCm39) |
K19R |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,555,374 (GRCm39) |
C1128S |
probably benign |
Het |
| Fcrl5 |
G |
A |
3: 87,355,634 (GRCm39) |
G449E |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,493,061 (GRCm39) |
N1818K |
possibly damaging |
Het |
| Gm21149 |
C |
A |
5: 15,678,037 (GRCm39) |
V187L |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gstm7 |
A |
G |
3: 107,838,142 (GRCm39) |
|
probably null |
Het |
| Htr1b |
T |
A |
9: 81,513,810 (GRCm39) |
I266F |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,620,900 (GRCm39) |
I305T |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,816 (GRCm39) |
C97R |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,288,912 (GRCm39) |
H557L |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,612,813 (GRCm39) |
V1199A |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,459,292 (GRCm39) |
L246P |
probably damaging |
Het |
| M6pr |
T |
C |
6: 122,292,339 (GRCm39) |
L178P |
possibly damaging |
Het |
| Med17 |
A |
G |
9: 15,185,879 (GRCm39) |
S212P |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,749,374 (GRCm39) |
S31T |
possibly damaging |
Het |
| Morc2b |
T |
G |
17: 33,356,750 (GRCm39) |
T341P |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,696,805 (GRCm39) |
M1V |
probably null |
Het |
| Mrpl17 |
T |
C |
7: 105,459,122 (GRCm39) |
H158R |
probably benign |
Het |
| Mstn |
A |
G |
1: 53,105,648 (GRCm39) |
Q330R |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,558,695 (GRCm39) |
K2533* |
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,948,344 (GRCm39) |
S325P |
possibly damaging |
Het |
| Nadk |
A |
G |
4: 155,673,808 (GRCm39) |
Y399C |
possibly damaging |
Het |
| Nbea |
A |
C |
3: 55,998,540 (GRCm39) |
L89R |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,328,181 (GRCm39) |
F775L |
probably benign |
Het |
| Ndufa11 |
C |
A |
17: 57,028,331 (GRCm39) |
A70E |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,851 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Or10q3 |
A |
T |
19: 11,848,091 (GRCm39) |
L163Q |
probably damaging |
Het |
| Or12e9 |
A |
G |
2: 87,201,909 (GRCm39) |
N11S |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,618,762 (GRCm39) |
S443P |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,304,793 (GRCm39) |
D425G |
probably benign |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,414,698 (GRCm39) |
C42S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rbm46 |
G |
A |
3: 82,771,262 (GRCm39) |
T451M |
probably benign |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 47,093,548 (GRCm39) |
E4G |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,506 (GRCm39) |
E613G |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,960,621 (GRCm39) |
D183G |
probably damaging |
Het |
| Slc15a4 |
C |
T |
5: 127,693,950 (GRCm39) |
A162T |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,527,966 (GRCm39) |
W315R |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,547,262 (GRCm39) |
F361L |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,313,801 (GRCm39) |
Y515H |
possibly damaging |
Het |
| Slitrk3 |
C |
A |
3: 72,957,247 (GRCm39) |
K508N |
possibly damaging |
Het |
| Stard4 |
T |
C |
18: 33,338,278 (GRCm39) |
D144G |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,031,345 (GRCm39) |
V1021D |
probably damaging |
Het |
| Vmn1r54 |
A |
T |
6: 90,246,304 (GRCm39) |
I73F |
probably benign |
Het |
| Vmn2r19 |
A |
C |
6: 123,293,112 (GRCm39) |
S385R |
possibly damaging |
Het |
| Xkr5 |
A |
G |
8: 18,998,716 (GRCm39) |
L34P |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,875,770 (GRCm39) |
V121A |
probably damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,712,177 (GRCm39) |
H268L |
probably null |
Het |
| Zfp865 |
T |
C |
7: 5,033,065 (GRCm39) |
F350S |
probably damaging |
Het |
| Zscan4b |
T |
C |
7: 10,634,828 (GRCm39) |
I472V |
possibly 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 |
|
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'- ATCCTTCAGCATCAATCCCG -3'
(R):5'- AGATAATGAGCTCTCTCGCCTC -3'
Sequencing Primer
(F):5'- GTTTGATCAGCACCATCCGAG -3'
(R):5'- TCTCACTGGAGGGTCTGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation