Incidental Mutation 'R6059:Dchs2'
| ID |
483109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
044225-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.456)
|
| Stock # |
R6059 (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 83263043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 3104
(S3104G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000191829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191829
AA Change: S3104G
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: S3104G
| 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 |
0.0676 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
95% (54/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
C |
A |
17: 48,400,847 (GRCm39) |
T44K |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,014,508 (GRCm39) |
D189G |
probably benign |
Het |
| Abo |
A |
G |
2: 26,733,365 (GRCm39) |
V278A |
possibly damaging |
Het |
| Anxa1 |
A |
G |
19: 20,355,064 (GRCm39) |
F237L |
possibly damaging |
Het |
| Atp11b |
A |
G |
3: 35,868,326 (GRCm39) |
Y466C |
possibly damaging |
Het |
| Cfh |
T |
A |
1: 140,046,428 (GRCm39) |
K531N |
possibly damaging |
Het |
| Cgref1 |
G |
T |
5: 31,102,728 (GRCm39) |
P31Q |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,516,531 (GRCm39) |
A355V |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,620,707 (GRCm39) |
C929S |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,661,116 (GRCm39) |
V331D |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,295,301 (GRCm39) |
V469E |
possibly damaging |
Het |
| Ddx24 |
G |
T |
12: 103,374,559 (GRCm39) |
A875E |
probably damaging |
Het |
| Dsc1 |
A |
T |
18: 20,243,299 (GRCm39) |
N51K |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,927,595 (GRCm39) |
I4788T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,593,793 (GRCm39) |
T537I |
probably damaging |
Het |
| Epb41l3 |
A |
G |
17: 69,591,637 (GRCm39) |
E708G |
probably damaging |
Het |
| Fam162b |
A |
T |
10: 51,466,403 (GRCm39) |
C39S |
probably benign |
Het |
| Garre1 |
G |
A |
7: 33,944,888 (GRCm39) |
A452V |
possibly damaging |
Het |
| Gbf1 |
T |
C |
19: 46,253,687 (GRCm39) |
I531T |
probably damaging |
Het |
| Glipr1l2 |
T |
C |
10: 111,919,423 (GRCm39) |
V48A |
probably benign |
Het |
| Gorasp1 |
A |
G |
9: 119,759,072 (GRCm39) |
V177A |
probably damaging |
Het |
| Gys1 |
A |
G |
7: 45,104,712 (GRCm39) |
|
probably null |
Het |
| Hif1a |
T |
A |
12: 73,988,574 (GRCm39) |
V523E |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,854,641 (GRCm39) |
|
probably benign |
Het |
| Lcn9 |
C |
A |
2: 25,714,737 (GRCm39) |
L159I |
possibly damaging |
Het |
| Luzp1 |
C |
T |
4: 136,268,791 (GRCm39) |
A338V |
probably benign |
Het |
| Map3k10 |
A |
T |
7: 27,356,247 (GRCm39) |
S891T |
probably damaging |
Het |
| Mmrn2 |
C |
T |
14: 34,119,548 (GRCm39) |
Q97* |
probably null |
Het |
| Mov10 |
G |
A |
3: 104,725,266 (GRCm39) |
|
probably benign |
Het |
| Ncam1 |
A |
C |
9: 49,455,966 (GRCm39) |
Y551D |
probably damaging |
Het |
| Ncf1 |
A |
T |
5: 134,252,341 (GRCm39) |
Y237N |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,325,052 (GRCm39) |
I2537N |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,107,836 (GRCm39) |
V555E |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,391,042 (GRCm39) |
Y428H |
probably damaging |
Het |
| Nup133 |
C |
A |
8: 124,641,335 (GRCm39) |
A862S |
probably damaging |
Het |
| Pcdhgb2 |
T |
A |
18: 37,823,078 (GRCm39) |
L23* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,861,714 (GRCm39) |
E4889G |
unknown |
Het |
| Plcd3 |
T |
A |
11: 102,971,227 (GRCm39) |
I110F |
possibly damaging |
Het |
| Plxna2 |
C |
A |
1: 194,493,279 (GRCm39) |
N1851K |
possibly damaging |
Het |
| Ppp2r5c |
C |
A |
12: 110,541,222 (GRCm39) |
A457E |
probably benign |
Het |
| Ppp5c |
C |
T |
7: 16,761,832 (GRCm39) |
|
probably benign |
Het |
| Pramel25 |
T |
G |
4: 143,520,550 (GRCm39) |
S101A |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,325,748 (GRCm39) |
Y1009F |
possibly damaging |
Het |
| Rcor3 |
A |
T |
1: 191,804,240 (GRCm39) |
M303K |
probably benign |
Het |
| Rrn3 |
G |
A |
16: 13,624,468 (GRCm39) |
M433I |
probably benign |
Het |
| Serpinb9e |
G |
A |
13: 33,441,757 (GRCm39) |
V230M |
probably benign |
Het |
| Shisa6 |
T |
A |
11: 66,115,800 (GRCm39) |
H279L |
probably damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,165,089 (GRCm39) |
I234N |
probably damaging |
Het |
| Socs1 |
G |
C |
16: 10,602,394 (GRCm39) |
F114L |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,945,743 (GRCm39) |
T925M |
possibly damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,887 (GRCm39) |
S156P |
probably damaging |
Het |
| Ttc5 |
C |
G |
14: 51,015,303 (GRCm39) |
V103L |
probably damaging |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,538 (GRCm39) |
T119A |
probably benign |
Het |
| Vmn2r99 |
G |
A |
17: 19,599,242 (GRCm39) |
D309N |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,957,693 (GRCm39) |
H353R |
possibly damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,257,356 (GRCm39) |
Y47* |
probably null |
Het |
| Zfp276 |
T |
C |
8: 123,994,562 (GRCm39) |
M543T |
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 |
|
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 |
|
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'- GCCTGCTGAATGGTTGAAC -3'
(R):5'- TGCCTGAAGTGAAGGACTCTC -3'
Sequencing Primer
(F):5'- CCTGCTGAATGGTTGAACTTAATGAG -3'
(R):5'- AGCCAAGACACCTGCTGTTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation