Incidental Mutation 'R7352:Dsc2'
| ID |
570701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc2
|
| Ensembl Gene |
ENSMUSG00000024331 |
| Gene Name |
desmocollin 2 |
| Synonyms |
Dsc2a, Dsc2b |
| MMRRC Submission |
045438-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7352 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
20163690-20192611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 20168392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 689
(D689A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039247]
[ENSMUST00000075214]
[ENSMUST00000128464]
|
| AlphaFold |
P55292 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039247
AA Change: D689A
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: D689A
| Domain | Start | End | E-Value | Type |
|---|
|
Cadherin_pro
|
31 |
113 |
2.82e-37 |
SMART |
|
CA
|
156 |
241 |
4.66e-11 |
SMART |
|
CA
|
265 |
353 |
1.87e-24 |
SMART |
|
low complexity region
|
358 |
372 |
N/A |
INTRINSIC |
|
CA
|
376 |
470 |
1.27e-12 |
SMART |
|
CA
|
493 |
575 |
4.14e-17 |
SMART |
|
CA
|
594 |
676 |
1.49e-1 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075214
AA Change: D689A
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: D689A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Cadherin_pro
|
31 |
113 |
2.82e-37 |
SMART |
|
CA
|
156 |
241 |
4.66e-11 |
SMART |
|
CA
|
265 |
353 |
1.87e-24 |
SMART |
|
low complexity region
|
358 |
372 |
N/A |
INTRINSIC |
|
CA
|
376 |
470 |
1.27e-12 |
SMART |
|
CA
|
493 |
575 |
4.14e-17 |
SMART |
|
CA
|
594 |
676 |
1.49e-1 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
730 |
901 |
3.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128464
|
| SMART Domains |
Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331
| Domain | Start | End | E-Value | Type |
|---|
|
Cadherin_pro
|
31 |
113 |
2.82e-37 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155407
AA Change: D88A
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116063
Gene: ENSMUSG00000024331
AA Change: D88A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l3wa5
|
2 |
71 |
2e-3 |
SMART |
|
Blast:CA
|
2 |
76 |
2e-47 |
BLAST |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,508,028 (GRCm39) |
W1124* |
probably null |
Het |
| Acap3 |
G |
A |
4: 155,990,168 (GRCm39) |
V783I |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,345,796 (GRCm39) |
K172R |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,429,998 (GRCm39) |
L860P |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,106,331 (GRCm39) |
T1504I |
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,994,169 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
A |
G |
14: 60,028,653 (GRCm39) |
V938A |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,504,221 (GRCm39) |
M582V |
probably benign |
Het |
| Axdnd1 |
C |
T |
1: 156,210,047 (GRCm39) |
V408I |
possibly damaging |
Het |
| Babam2 |
T |
A |
5: 32,164,594 (GRCm39) |
Y326* |
probably null |
Het |
| Baiap2l1 |
T |
C |
5: 144,261,436 (GRCm39) |
M20V |
probably benign |
Het |
| Bex6 |
A |
G |
16: 32,005,034 (GRCm39) |
|
probably benign |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Cad |
T |
A |
5: 31,215,422 (GRCm39) |
S78T |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,736,260 (GRCm39) |
D1210E |
possibly damaging |
Het |
| Ccnd1 |
T |
C |
7: 144,491,124 (GRCm39) |
I161V |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,265,745 (GRCm39) |
F1396I |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,597,423 (GRCm39) |
D373E |
probably benign |
Het |
| Chrna4 |
A |
T |
2: 180,679,267 (GRCm39) |
I60N |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,137 (GRCm39) |
T586A |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 128,451,429 (GRCm39) |
V3396F |
|
Het |
| Cyp3a44 |
T |
A |
5: 145,740,498 (GRCm39) |
L47F |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,123 (GRCm39) |
H183Q |
probably benign |
Het |
| Ddx27 |
T |
C |
2: 166,871,433 (GRCm39) |
V510A |
probably benign |
Het |
| Dgat1 |
G |
T |
15: 76,387,024 (GRCm39) |
C396* |
probably null |
Het |
| Dmpk |
A |
G |
7: 18,819,997 (GRCm39) |
S83G |
probably damaging |
Het |
| Eppk1 |
A |
T |
15: 75,990,618 (GRCm39) |
W2088R |
probably benign |
Het |
| Exph5 |
A |
C |
9: 53,287,022 (GRCm39) |
I1368L |
probably benign |
Het |
| Fadd |
T |
C |
7: 144,134,396 (GRCm39) |
K163R |
probably benign |
Het |
| Fam149a |
T |
A |
8: 45,794,034 (GRCm39) |
Q759L |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,448 (GRCm39) |
M449K |
probably benign |
Het |
| Gad1 |
T |
C |
2: 70,425,094 (GRCm39) |
F463L |
probably benign |
Het |
| Gad2 |
T |
A |
2: 22,513,835 (GRCm39) |
F91I |
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,116,520 (GRCm39) |
|
probably null |
Het |
| Gjd3 |
A |
C |
11: 102,691,278 (GRCm39) |
C242G |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,325,100 (GRCm39) |
E103G |
possibly damaging |
Het |
| Gm867 |
T |
C |
10: 75,775,670 (GRCm39) |
T39A |
probably benign |
Het |
| Gpr108 |
A |
G |
17: 57,543,944 (GRCm39) |
Y421H |
probably damaging |
Het |
| Gramd1b |
A |
C |
9: 40,219,289 (GRCm39) |
V508G |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,595,237 (GRCm39) |
I797N |
probably damaging |
Het |
| Ice1 |
G |
A |
13: 70,754,221 (GRCm39) |
Q622* |
probably null |
Het |
| Kcnb2 |
T |
A |
1: 15,780,835 (GRCm39) |
V569E |
probably benign |
Het |
| Ksr2 |
T |
G |
5: 117,827,706 (GRCm39) |
I495S |
probably benign |
Het |
| Litaf |
A |
T |
16: 10,781,217 (GRCm39) |
M94K |
probably damaging |
Het |
| Lmod2 |
T |
C |
6: 24,598,110 (GRCm39) |
S77P |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,302,741 (GRCm39) |
S2996Y |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,857,518 (GRCm39) |
S436P |
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,001,387 (GRCm39) |
V58D |
unknown |
Het |
| Mapkapk3 |
C |
A |
9: 107,134,269 (GRCm39) |
D332Y |
possibly damaging |
Het |
| Mroh1 |
C |
A |
15: 76,335,674 (GRCm39) |
P1439Q |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,224,737 (GRCm39) |
V841A |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,817,063 (GRCm39) |
M248V |
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,577 (GRCm39) |
D97G |
probably benign |
Het |
| Or4a2 |
C |
A |
2: 89,248,311 (GRCm39) |
G149W |
probably damaging |
Het |
| Or4a39 |
T |
C |
2: 89,236,806 (GRCm39) |
M206V |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,062 (GRCm39) |
N293I |
probably damaging |
Het |
| Or5b95 |
A |
G |
19: 12,658,115 (GRCm39) |
I214M |
possibly damaging |
Het |
| Or5g23 |
T |
C |
2: 85,439,128 (GRCm39) |
N42S |
probably damaging |
Het |
| Or6f2 |
A |
T |
7: 139,756,438 (GRCm39) |
Y135F |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,139,898 (GRCm39) |
V509E |
probably damaging |
Het |
| Pglyrp3 |
G |
A |
3: 91,921,947 (GRCm39) |
W5* |
probably null |
Het |
| Phf14 |
A |
T |
6: 11,961,637 (GRCm39) |
N425Y |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,843,407 (GRCm39) |
R1851S |
possibly damaging |
Het |
| Pigs |
A |
G |
11: 78,219,638 (GRCm39) |
T39A |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,411,427 (GRCm39) |
M868T |
probably benign |
Het |
| Pnma2 |
A |
G |
14: 67,153,870 (GRCm39) |
Q98R |
possibly damaging |
Het |
| Ppp4r3a |
G |
A |
12: 101,008,091 (GRCm39) |
T782I |
probably damaging |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,743 (GRCm39) |
N209I |
probably damaging |
Het |
| Prickle2 |
T |
G |
6: 92,387,871 (GRCm39) |
E566D |
probably benign |
Het |
| Pvr |
A |
G |
7: 19,644,541 (GRCm39) |
I331T |
possibly damaging |
Het |
| Ranbp3l |
A |
T |
15: 8,997,842 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
T |
A |
2: 72,010,435 (GRCm39) |
I331N |
probably damaging |
Het |
| Reg3g |
C |
T |
6: 78,443,842 (GRCm39) |
W122* |
probably null |
Het |
| Rigi |
T |
A |
4: 40,239,668 (GRCm39) |
Q10L |
probably benign |
Het |
| Rlbp1 |
A |
T |
7: 79,031,428 (GRCm39) |
I100N |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,334,405 (GRCm39) |
Y3206N |
|
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Rtl6 |
G |
T |
15: 84,441,181 (GRCm39) |
R72S |
possibly damaging |
Het |
| Rufy3 |
T |
A |
5: 88,785,053 (GRCm39) |
D408E |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,356,045 (GRCm39) |
I230V |
possibly damaging |
Het |
| Slc23a4 |
A |
T |
6: 34,925,214 (GRCm39) |
I507N |
possibly damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,688,865 (GRCm39) |
T392A |
probably damaging |
Het |
| Spaca7 |
T |
A |
8: 12,635,742 (GRCm39) |
I86K |
probably benign |
Het |
| Syt10 |
G |
T |
15: 89,698,659 (GRCm39) |
D228E |
probably benign |
Het |
| Tbx3 |
T |
A |
5: 119,815,625 (GRCm39) |
N308K |
probably benign |
Het |
| Telo2 |
A |
G |
17: 25,321,043 (GRCm39) |
V724A |
probably damaging |
Het |
| Tfip11 |
T |
C |
5: 112,481,134 (GRCm39) |
V370A |
probably benign |
Het |
| Thbs3 |
A |
G |
3: 89,132,587 (GRCm39) |
E843G |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,644,401 (GRCm39) |
I148V |
not run |
Het |
| Trbv14 |
T |
A |
6: 41,112,429 (GRCm39) |
D75E |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,732,962 (GRCm39) |
V2973A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,624,828 (GRCm39) |
D15250G |
probably damaging |
Het |
| Ubr2 |
G |
A |
17: 47,241,352 (GRCm39) |
T1734I |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,198,321 (GRCm39) |
A1462S |
probably benign |
Het |
| Ushbp1 |
T |
G |
8: 71,841,525 (GRCm39) |
T435P |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,747,728 (GRCm39) |
V7A |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,155,244 (GRCm39) |
V385A |
probably damaging |
Het |
| Wnt2b |
C |
T |
3: 104,854,493 (GRCm39) |
V322I |
probably benign |
Het |
| Zbtb8a |
C |
T |
4: 129,253,874 (GRCm39) |
V207M |
probably benign |
Het |
| Zc3hav1l |
A |
G |
6: 38,275,916 (GRCm39) |
M87T |
probably benign |
Het |
|
| Other mutations in Dsc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00802:Dsc2
|
APN |
18 |
20,174,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00826:Dsc2
|
APN |
18 |
20,168,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00852:Dsc2
|
APN |
18 |
20,167,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01082:Dsc2
|
APN |
18 |
20,176,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01328:Dsc2
|
APN |
18 |
20,181,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01338:Dsc2
|
APN |
18 |
20,180,214 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01727:Dsc2
|
APN |
18 |
20,171,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01766:Dsc2
|
APN |
18 |
20,179,399 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02228:Dsc2
|
APN |
18 |
20,176,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02560:Dsc2
|
APN |
18 |
20,178,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02794:Dsc2
|
APN |
18 |
20,174,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Dsc2
|
UTSW |
18 |
20,180,136 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
PIT4305001:Dsc2
|
UTSW |
18 |
20,179,300 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4431001:Dsc2
|
UTSW |
18 |
20,179,334 (GRCm39) |
nonsense |
probably null |
|
|
R0288:Dsc2
|
UTSW |
18 |
20,166,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Dsc2
|
UTSW |
18 |
20,184,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0562:Dsc2
|
UTSW |
18 |
20,174,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0697:Dsc2
|
UTSW |
18 |
20,174,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0940:Dsc2
|
UTSW |
18 |
20,183,116 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1081:Dsc2
|
UTSW |
18 |
20,166,352 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1140:Dsc2
|
UTSW |
18 |
20,165,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1515:Dsc2
|
UTSW |
18 |
20,178,622 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1515:Dsc2
|
UTSW |
18 |
20,167,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1558:Dsc2
|
UTSW |
18 |
20,183,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1654:Dsc2
|
UTSW |
18 |
20,179,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2061:Dsc2
|
UTSW |
18 |
20,165,456 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2089:Dsc2
|
UTSW |
18 |
20,166,351 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2091:Dsc2
|
UTSW |
18 |
20,166,351 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2091:Dsc2
|
UTSW |
18 |
20,166,351 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2172:Dsc2
|
UTSW |
18 |
20,178,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2247:Dsc2
|
UTSW |
18 |
20,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2472:Dsc2
|
UTSW |
18 |
20,178,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2927:Dsc2
|
UTSW |
18 |
20,178,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3611:Dsc2
|
UTSW |
18 |
20,165,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3961:Dsc2
|
UTSW |
18 |
20,184,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3963:Dsc2
|
UTSW |
18 |
20,184,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4353:Dsc2
|
UTSW |
18 |
20,183,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4362:Dsc2
|
UTSW |
18 |
20,183,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Dsc2
|
UTSW |
18 |
20,174,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Dsc2
|
UTSW |
18 |
20,174,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Dsc2
|
UTSW |
18 |
20,171,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Dsc2
|
UTSW |
18 |
20,183,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Dsc2
|
UTSW |
18 |
20,183,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Dsc2
|
UTSW |
18 |
20,167,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5445:Dsc2
|
UTSW |
18 |
20,168,360 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5507:Dsc2
|
UTSW |
18 |
20,179,336 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5575:Dsc2
|
UTSW |
18 |
20,168,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Dsc2
|
UTSW |
18 |
20,165,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6102:Dsc2
|
UTSW |
18 |
20,180,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6129:Dsc2
|
UTSW |
18 |
20,178,487 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6362:Dsc2
|
UTSW |
18 |
20,168,520 (GRCm39) |
nonsense |
probably null |
|
|
R6433:Dsc2
|
UTSW |
18 |
20,184,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6513:Dsc2
|
UTSW |
18 |
20,179,295 (GRCm39) |
missense |
probably benign |
|
|
R6615:Dsc2
|
UTSW |
18 |
20,165,576 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6619:Dsc2
|
UTSW |
18 |
20,165,335 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6665:Dsc2
|
UTSW |
18 |
20,183,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6961:Dsc2
|
UTSW |
18 |
20,171,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Dsc2
|
UTSW |
18 |
20,168,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7275:Dsc2
|
UTSW |
18 |
20,184,236 (GRCm39) |
nonsense |
probably null |
|
|
R7386:Dsc2
|
UTSW |
18 |
20,174,983 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7496:Dsc2
|
UTSW |
18 |
20,168,451 (GRCm39) |
nonsense |
probably null |
|
|
R7510:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7580:Dsc2
|
UTSW |
18 |
20,183,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7718:Dsc2
|
UTSW |
18 |
20,174,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7733:Dsc2
|
UTSW |
18 |
20,181,373 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7733:Dsc2
|
UTSW |
18 |
20,181,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7818:Dsc2
|
UTSW |
18 |
20,183,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Dsc2
|
UTSW |
18 |
20,179,342 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7998:Dsc2
|
UTSW |
18 |
20,167,720 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8029:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8030:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8031:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8032:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8059:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8060:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8061:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8062:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8063:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8082:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8090:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8114:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8115:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8116:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8117:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8118:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8328:Dsc2
|
UTSW |
18 |
20,165,576 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8545:Dsc2
|
UTSW |
18 |
20,167,722 (GRCm39) |
nonsense |
probably null |
|
|
R9005:Dsc2
|
UTSW |
18 |
20,171,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9017:Dsc2
|
UTSW |
18 |
20,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Dsc2
|
UTSW |
18 |
20,167,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9396:Dsc2
|
UTSW |
18 |
20,174,773 (GRCm39) |
nonsense |
probably null |
|
|
R9487:Dsc2
|
UTSW |
18 |
20,180,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9663:Dsc2
|
UTSW |
18 |
20,171,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Dsc2
|
UTSW |
18 |
20,179,361 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Dsc2
|
UTSW |
18 |
20,168,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATACTCTGCTGACAAGACAG -3'
(R):5'- GCTCGTCTTTCCTATCAGAACG -3'
Sequencing Primer
(F):5'- GTTCAGTAGATAAATGCGCTCGCC -3'
(R):5'- ATCAGAACGACCCTTCATTTGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation