Incidental Mutation 'R5916:Dsc3'
| ID |
461369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc3
|
| Ensembl Gene |
ENSMUSG00000059898 |
| Gene Name |
desmocollin 3 |
| Synonyms |
|
| MMRRC Submission |
044113-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5916 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
19960930-20002351 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19987020 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 194
(N194D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115848]
[ENSMUST00000223946]
[ENSMUST00000225110]
|
| AlphaFold |
P55850 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115848
AA Change: N194D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: N194D
| Domain | Start | End | E-Value | Type |
|---|
|
Cadherin_pro
|
31 |
113 |
9.08e-41 |
SMART |
|
CA
|
156 |
241 |
4.99e-11 |
SMART |
|
CA
|
265 |
353 |
7.79e-22 |
SMART |
|
CA
|
376 |
471 |
2.66e-6 |
SMART |
|
CA
|
494 |
576 |
4.58e-19 |
SMART |
|
CA
|
595 |
677 |
3.02e-2 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
778 |
895 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223946
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225110
AA Change: N194D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. Together with desmogleins, the encoded protein forms the transmembrane core of desmosomes, a multiprotein complex involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. Mice lacking the encoded protein exhibit a pre-implantation lethal phenotype. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810474O19Rik |
C |
T |
6: 149,326,578 (GRCm38) |
T374I |
probably damaging |
Het |
| 4930563D23Rik |
T |
A |
16: 92,320,671 (GRCm38) |
E243V |
probably damaging |
Het |
| Aadacl4 |
A |
T |
4: 144,622,980 (GRCm38) |
N269I |
possibly damaging |
Het |
| Abcc1 |
G |
T |
16: 14,465,142 (GRCm38) |
V1161F |
possibly damaging |
Het |
| Adam3 |
A |
T |
8: 24,684,539 (GRCm38) |
|
probably null |
Het |
| Agt |
A |
T |
8: 124,563,858 (GRCm38) |
S237T |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,681,836 (GRCm38) |
F674L |
probably benign |
Het |
| Asb2 |
G |
T |
12: 103,323,876 (GRCm38) |
A504E |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 69,807,098 (GRCm38) |
I1113N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,205,662 (GRCm38) |
|
probably null |
Het |
| Bambi |
A |
G |
18: 3,511,463 (GRCm38) |
T95A |
probably benign |
Het |
| Ccdc173 |
A |
T |
2: 69,789,462 (GRCm38) |
M1K |
probably null |
Het |
| Clrn1 |
T |
C |
3: 58,846,362 (GRCm38) |
T193A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,504,122 (GRCm38) |
D437E |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,759,166 (GRCm38) |
A1820S |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,706,918 (GRCm38) |
I233N |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,102,309 (GRCm38) |
|
probably null |
Het |
| Erich3 |
A |
T |
3: 154,695,823 (GRCm38) |
R36S |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,321,828 (GRCm38) |
C680S |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,357,541 (GRCm38) |
L1129P |
unknown |
Het |
| Fzd3 |
G |
A |
14: 65,202,729 (GRCm38) |
T664I |
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,854,736 (GRCm38) |
I129V |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,434,471 (GRCm38) |
F1950S |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,646,203 (GRCm38) |
G597E |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,396,139 (GRCm38) |
V2101D |
probably damaging |
Het |
| Il17re |
T |
A |
6: 113,470,123 (GRCm38) |
C612S |
probably damaging |
Het |
| Il1f9 |
T |
G |
2: 24,192,794 (GRCm38) |
*194E |
probably null |
Het |
| Junb |
T |
C |
8: 84,977,876 (GRCm38) |
Y185C |
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,221,382 (GRCm38) |
Q186* |
probably null |
Het |
| Lrrn2 |
T |
A |
1: 132,937,800 (GRCm38) |
V201E |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,451,178 (GRCm38) |
T68S |
probably benign |
Het |
| March1 |
G |
T |
8: 66,387,111 (GRCm38) |
R182L |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,249,425 (GRCm38) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,964,312 (GRCm38) |
S2708T |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,451,733 (GRCm38) |
T396A |
probably benign |
Het |
| Naip5 |
A |
C |
13: 100,222,701 (GRCm38) |
S676A |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 174,121,544 (GRCm38) |
W456C |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 58,808,729 (GRCm38) |
M1V |
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,134,900 (GRCm38) |
*485Q |
probably null |
Het |
| Ocln |
T |
G |
13: 100,506,179 (GRCm38) |
D216A |
possibly damaging |
Het |
| Olfr108 |
C |
T |
17: 37,445,679 (GRCm38) |
L53F |
probably benign |
Het |
| Olfr1308 |
A |
G |
2: 111,960,830 (GRCm38) |
M81T |
probably damaging |
Het |
| Olfr417 |
A |
T |
1: 174,369,132 (GRCm38) |
T72S |
probably damaging |
Het |
| Olfr544 |
G |
A |
7: 102,484,379 (GRCm38) |
S247F |
probably damaging |
Het |
| Papd4 |
T |
C |
13: 93,175,547 (GRCm38) |
D215G |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,523,513 (GRCm38) |
M2243K |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,325,082 (GRCm38) |
Q190* |
probably null |
Het |
| Rfx8 |
T |
C |
1: 39,688,619 (GRCm38) |
Y182C |
probably benign |
Het |
| Rpgrip1l |
C |
A |
8: 91,252,913 (GRCm38) |
R967L |
possibly damaging |
Het |
| Scube2 |
A |
G |
7: 109,831,724 (GRCm38) |
Y423H |
possibly damaging |
Het |
| Sipa1l2 |
A |
T |
8: 125,468,573 (GRCm38) |
Y809N |
probably damaging |
Het |
| Slc35f1 |
C |
A |
10: 52,933,221 (GRCm38) |
Y101* |
probably null |
Het |
| Tbc1d22a |
A |
G |
15: 86,214,608 (GRCm38) |
K12E |
possibly damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,357,691 (GRCm38) |
V646M |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,749,380 (GRCm38) |
M243K |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,691,514 (GRCm38) |
L732P |
probably damaging |
Het |
| U2af2 |
A |
T |
7: 5,079,180 (GRCm38) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,665,051 (GRCm38) |
N1877Y |
probably damaging |
Het |
| Vsir |
C |
T |
10: 60,358,037 (GRCm38) |
T93I |
probably damaging |
Het |
| Zkscan5 |
T |
A |
5: 145,205,302 (GRCm38) |
M3K |
possibly damaging |
Het |
| Zscan29 |
G |
T |
2: 121,164,037 (GRCm38) |
T489N |
probably damaging |
Het |
|
| Other mutations in Dsc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Dsc3
|
APN |
18 |
19,985,631 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL01978:Dsc3
|
APN |
18 |
19,974,196 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL02101:Dsc3
|
APN |
18 |
20,001,906 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02165:Dsc3
|
APN |
18 |
19,983,652 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02543:Dsc3
|
APN |
18 |
19,965,828 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL02970:Dsc3
|
APN |
18 |
19,968,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03097:Dsc3
|
UTSW |
18 |
19,974,048 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0133:Dsc3
|
UTSW |
18 |
19,971,582 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0304:Dsc3
|
UTSW |
18 |
19,981,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0360:Dsc3
|
UTSW |
18 |
19,971,582 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0673:Dsc3
|
UTSW |
18 |
19,989,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0826:Dsc3
|
UTSW |
18 |
19,981,172 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1120:Dsc3
|
UTSW |
18 |
19,986,977 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1491:Dsc3
|
UTSW |
18 |
19,987,034 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1667:Dsc3
|
UTSW |
18 |
19,991,560 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1688:Dsc3
|
UTSW |
18 |
19,966,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1792:Dsc3
|
UTSW |
18 |
19,986,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1858:Dsc3
|
UTSW |
18 |
19,965,716 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1965:Dsc3
|
UTSW |
18 |
19,980,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1988:Dsc3
|
UTSW |
18 |
19,965,846 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2049:Dsc3
|
UTSW |
18 |
19,989,680 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2127:Dsc3
|
UTSW |
18 |
19,968,354 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2143:Dsc3
|
UTSW |
18 |
19,980,686 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2144:Dsc3
|
UTSW |
18 |
19,980,686 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2148:Dsc3
|
UTSW |
18 |
19,965,638 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3038:Dsc3
|
UTSW |
18 |
19,991,560 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R3872:Dsc3
|
UTSW |
18 |
19,971,508 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4229:Dsc3
|
UTSW |
18 |
19,965,821 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4298:Dsc3
|
UTSW |
18 |
19,980,754 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4491:Dsc3
|
UTSW |
18 |
20,001,865 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4590:Dsc3
|
UTSW |
18 |
19,989,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4615:Dsc3
|
UTSW |
18 |
19,971,488 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5316:Dsc3
|
UTSW |
18 |
19,963,541 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5758:Dsc3
|
UTSW |
18 |
19,989,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5796:Dsc3
|
UTSW |
18 |
19,971,501 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6022:Dsc3
|
UTSW |
18 |
19,966,338 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6233:Dsc3
|
UTSW |
18 |
19,965,795 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6351:Dsc3
|
UTSW |
18 |
19,966,291 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6971:Dsc3
|
UTSW |
18 |
19,966,218 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7261:Dsc3
|
UTSW |
18 |
19,980,757 (GRCm38) |
nonsense |
probably null |
|
|
R7442:Dsc3
|
UTSW |
18 |
19,981,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7795:Dsc3
|
UTSW |
18 |
19,966,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8051:Dsc3
|
UTSW |
18 |
19,981,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8531:Dsc3
|
UTSW |
18 |
19,981,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8531:Dsc3
|
UTSW |
18 |
19,968,392 (GRCm38) |
missense |
probably benign |
|
|
R8872:Dsc3
|
UTSW |
18 |
19,989,622 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8927:Dsc3
|
UTSW |
18 |
19,974,177 (GRCm38) |
missense |
probably benign |
|
|
R8928:Dsc3
|
UTSW |
18 |
19,974,177 (GRCm38) |
missense |
probably benign |
|
|
R9140:Dsc3
|
UTSW |
18 |
19,989,559 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9493:Dsc3
|
UTSW |
18 |
19,989,695 (GRCm38) |
nonsense |
probably null |
|
|
X0061:Dsc3
|
UTSW |
18 |
19,989,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Dsc3
|
UTSW |
18 |
19,966,315 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACACAGTGAATGCTATTCTCC -3'
(R):5'- GCTTCCATATGTGTTCTAAGGCC -3'
Sequencing Primer
(F):5'- CACAGTGAATGCTATTCTCCTTAGAC -3'
(R):5'- AAGGCCTTACTCTTACCAACTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation