Incidental Mutation 'R5450:Dsg1b'
| ID |
429310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsg1b
|
| Ensembl Gene |
ENSMUSG00000061928 |
| Gene Name |
desmoglein 1 beta |
| Synonyms |
Dsg5 |
| MMRRC Submission |
043015-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5450 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20509786-20543253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 20542121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 876
(H876P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076737]
|
| AlphaFold |
Q7TSF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076737
AA Change: H876P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: H876P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
70 |
155 |
3.45e-14 |
SMART |
|
CA
|
179 |
267 |
3.11e-21 |
SMART |
|
CA
|
290 |
384 |
6.29e-8 |
SMART |
|
CA
|
407 |
491 |
3.92e-1 |
SMART |
|
low complexity region
|
523 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
601 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
662 |
784 |
1.6e-10 |
PFAM |
|
low complexity region
|
789 |
802 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
984 |
1006 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1775 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (74/76) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,846,405 (GRCm39) |
|
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,788,921 (GRCm39) |
N144S |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,602,160 (GRCm39) |
M1454K |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,412,327 (GRCm39) |
H138L |
possibly damaging |
Het |
| Cd200r2 |
T |
A |
16: 44,729,934 (GRCm39) |
D159E |
probably benign |
Het |
| Cd79a |
G |
T |
7: 24,598,687 (GRCm39) |
G79C |
probably damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,712,133 (GRCm39) |
H38R |
possibly damaging |
Het |
| Cers1 |
T |
C |
8: 70,770,947 (GRCm39) |
L119P |
probably damaging |
Het |
| Ces1f |
C |
A |
8: 93,992,423 (GRCm39) |
V343L |
probably benign |
Het |
| Ces3a |
G |
A |
8: 105,784,550 (GRCm39) |
G511S |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,175,079 (GRCm39) |
C98R |
probably benign |
Het |
| Cyp2j11 |
C |
A |
4: 96,228,113 (GRCm39) |
V169L |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,860 (GRCm39) |
T523A |
probably benign |
Het |
| Ddx31 |
T |
C |
2: 28,776,981 (GRCm39) |
S567P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Edrf1 |
G |
T |
7: 133,260,339 (GRCm39) |
M83I |
probably damaging |
Het |
| Eno4 |
T |
C |
19: 58,948,679 (GRCm39) |
F393S |
possibly damaging |
Het |
| Eral1 |
C |
T |
11: 77,969,183 (GRCm39) |
D106N |
probably benign |
Het |
| Esp18 |
G |
T |
17: 39,719,070 (GRCm39) |
R23M |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,697,143 (GRCm39) |
V674I |
probably benign |
Het |
| Fbxw13 |
A |
C |
9: 109,013,225 (GRCm39) |
N154K |
probably benign |
Het |
| Gtpbp6 |
A |
G |
5: 110,254,991 (GRCm39) |
V130A |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,903,050 (GRCm39) |
D1067G |
possibly damaging |
Het |
| Ighg1 |
A |
T |
12: 113,294,126 (GRCm39) |
S6T |
unknown |
Het |
| Ikzf3 |
C |
T |
11: 98,357,912 (GRCm39) |
R475H |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,945,796 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
A |
T |
6: 72,819,913 (GRCm39) |
L311* |
probably null |
Het |
| Kmt2d |
C |
A |
15: 98,752,967 (GRCm39) |
E184D |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,047,996 (GRCm39) |
I314F |
probably damaging |
Het |
| Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
| Mroh1 |
C |
A |
15: 76,316,547 (GRCm39) |
|
probably benign |
Het |
| Mx1 |
A |
T |
16: 97,255,347 (GRCm39) |
Y235* |
probably null |
Het |
| Or4x6 |
A |
G |
2: 89,949,013 (GRCm39) |
*310Q |
probably null |
Het |
| Pamr1 |
T |
G |
2: 102,469,662 (GRCm39) |
Y403D |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,953,162 (GRCm39) |
E551G |
possibly damaging |
Het |
| Patl2 |
A |
G |
2: 121,955,762 (GRCm39) |
V258A |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,074,041 (GRCm39) |
F255L |
probably benign |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Psg18 |
T |
A |
7: 18,087,350 (GRCm39) |
I103F |
probably benign |
Het |
| Rpl39-ps |
A |
G |
15: 102,543,583 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6kb1 |
A |
T |
11: 86,423,663 (GRCm39) |
F106I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sardh |
G |
T |
2: 27,129,710 (GRCm39) |
T245K |
possibly damaging |
Het |
| Shprh |
T |
G |
10: 11,088,074 (GRCm39) |
I1619S |
possibly damaging |
Het |
| Skint1 |
G |
A |
4: 111,882,729 (GRCm39) |
V258I |
probably benign |
Het |
| Slc27a5 |
T |
C |
7: 12,728,869 (GRCm39) |
D331G |
probably benign |
Het |
| Slc29a2 |
A |
G |
19: 5,079,303 (GRCm39) |
I309V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,957,680 (GRCm39) |
V130I |
possibly damaging |
Het |
| Slc4a3 |
C |
A |
1: 75,529,300 (GRCm39) |
A531D |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,910,672 (GRCm39) |
T399I |
probably benign |
Het |
| Slitrk6 |
T |
A |
14: 110,987,529 (GRCm39) |
H726L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,784 (GRCm39) |
K309R |
probably damaging |
Het |
| Speer4f2 |
T |
A |
5: 17,578,217 (GRCm39) |
C4S |
possibly damaging |
Het |
| Sulf1 |
T |
C |
1: 12,867,131 (GRCm39) |
V105A |
probably benign |
Het |
| Tcstv7a |
A |
T |
13: 120,289,899 (GRCm39) |
V99E |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,195 (GRCm39) |
L109P |
probably damaging |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,376 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,664,611 (GRCm39) |
Y166C |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,034,011 (GRCm39) |
T504A |
probably benign |
Het |
| Wdr75 |
C |
A |
1: 45,851,324 (GRCm39) |
A300E |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,091,039 (GRCm39) |
E149G |
possibly damaging |
Het |
| Zbtb18 |
T |
C |
1: 177,274,771 (GRCm39) |
F35L |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,366,093 (GRCm39) |
Y418C |
probably damaging |
Het |
|
| Other mutations in Dsg1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Dsg1b
|
APN |
18 |
20,529,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00675:Dsg1b
|
APN |
18 |
20,524,975 (GRCm39) |
nonsense |
probably null |
|
|
IGL01071:Dsg1b
|
APN |
18 |
20,542,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01589:Dsg1b
|
APN |
18 |
20,542,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01729:Dsg1b
|
APN |
18 |
20,538,295 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01753:Dsg1b
|
APN |
18 |
20,530,906 (GRCm39) |
splice site |
probably benign |
|
|
IGL02560:Dsg1b
|
APN |
18 |
20,542,235 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02654:Dsg1b
|
APN |
18 |
20,542,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02726:Dsg1b
|
APN |
18 |
20,532,542 (GRCm39) |
missense |
probably benign |
|
|
IGL03272:Dsg1b
|
APN |
18 |
20,530,446 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03342:Dsg1b
|
APN |
18 |
20,542,517 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02835:Dsg1b
|
UTSW |
18 |
20,525,071 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0080:Dsg1b
|
UTSW |
18 |
20,530,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Dsg1b
|
UTSW |
18 |
20,537,935 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0455:Dsg1b
|
UTSW |
18 |
20,529,082 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0498:Dsg1b
|
UTSW |
18 |
20,542,390 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0518:Dsg1b
|
UTSW |
18 |
20,521,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1418:Dsg1b
|
UTSW |
18 |
20,530,487 (GRCm39) |
nonsense |
probably null |
|
|
R1429:Dsg1b
|
UTSW |
18 |
20,523,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1450:Dsg1b
|
UTSW |
18 |
20,542,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1569:Dsg1b
|
UTSW |
18 |
20,529,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Dsg1b
|
UTSW |
18 |
20,532,578 (GRCm39) |
missense |
probably benign |
|
|
R1934:Dsg1b
|
UTSW |
18 |
20,528,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Dsg1b
|
UTSW |
18 |
20,529,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2191:Dsg1b
|
UTSW |
18 |
20,542,675 (GRCm39) |
makesense |
probably null |
|
|
R2192:Dsg1b
|
UTSW |
18 |
20,542,675 (GRCm39) |
makesense |
probably null |
|
|
R2927:Dsg1b
|
UTSW |
18 |
20,538,308 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3777:Dsg1b
|
UTSW |
18 |
20,532,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Dsg1b
|
UTSW |
18 |
20,523,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4205:Dsg1b
|
UTSW |
18 |
20,541,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Dsg1b
|
UTSW |
18 |
20,530,986 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4853:Dsg1b
|
UTSW |
18 |
20,523,189 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4853:Dsg1b
|
UTSW |
18 |
20,541,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4981:Dsg1b
|
UTSW |
18 |
20,541,925 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5125:Dsg1b
|
UTSW |
18 |
20,530,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5178:Dsg1b
|
UTSW |
18 |
20,530,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5213:Dsg1b
|
UTSW |
18 |
20,528,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Dsg1b
|
UTSW |
18 |
20,532,596 (GRCm39) |
missense |
probably benign |
|
|
R5778:Dsg1b
|
UTSW |
18 |
20,542,279 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5808:Dsg1b
|
UTSW |
18 |
20,541,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Dsg1b
|
UTSW |
18 |
20,529,476 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6185:Dsg1b
|
UTSW |
18 |
20,532,543 (GRCm39) |
missense |
probably benign |
|
|
R6268:Dsg1b
|
UTSW |
18 |
20,521,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6291:Dsg1b
|
UTSW |
18 |
20,537,848 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6342:Dsg1b
|
UTSW |
18 |
20,523,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6449:Dsg1b
|
UTSW |
18 |
20,527,498 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6566:Dsg1b
|
UTSW |
18 |
20,530,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Dsg1b
|
UTSW |
18 |
20,527,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Dsg1b
|
UTSW |
18 |
20,532,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7857:Dsg1b
|
UTSW |
18 |
20,529,520 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8209:Dsg1b
|
UTSW |
18 |
20,541,947 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8283:Dsg1b
|
UTSW |
18 |
20,524,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8328:Dsg1b
|
UTSW |
18 |
20,510,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8746:Dsg1b
|
UTSW |
18 |
20,529,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Dsg1b
|
UTSW |
18 |
20,542,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9095:Dsg1b
|
UTSW |
18 |
20,523,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9319:Dsg1b
|
UTSW |
18 |
20,531,004 (GRCm39) |
nonsense |
probably null |
|
|
R9386:Dsg1b
|
UTSW |
18 |
20,525,071 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9478:Dsg1b
|
UTSW |
18 |
20,531,008 (GRCm39) |
missense |
|
|
|
R9695:Dsg1b
|
UTSW |
18 |
20,532,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCACTGAACCGATGTGTC -3'
(R):5'- CTCGAGGGTTAGGAATGGTCAG -3'
Sequencing Primer
(F):5'- ATGTGTCCCCAGAGTACAGAGC -3'
(R):5'- TGGTCAGAGAAGTGGGTAGACTTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation