Incidental Mutation 'R7018:Dsg1a'
| ID |
545478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsg1a
|
| Ensembl Gene |
ENSMUSG00000069441 |
| Gene Name |
desmoglein 1 alpha |
| Synonyms |
Dsg1 |
| MMRRC Submission |
045119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R7018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20443930-20476410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20461795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 299
(F299L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077146]
|
| AlphaFold |
Q61495 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077146
AA Change: F299L
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: F299L
| 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 |
485 |
6.44e-1 |
SMART |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
598 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
659 |
781 |
1.6e-10 |
PFAM |
|
low complexity region
|
786 |
799 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
823 |
888 |
9.56e-6 |
PROSPERO |
|
internal_repeat_1
|
908 |
975 |
9.56e-6 |
PROSPERO |
|
low complexity region
|
983 |
1004 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (64/64) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcdd1 |
G |
T |
18: 63,070,120 (GRCm39) |
R129L |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,101,943 (GRCm39) |
V844I |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,265,665 (GRCm39) |
V1569A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,748,747 (GRCm39) |
S431T |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,360,953 (GRCm39) |
D795G |
possibly damaging |
Het |
| Crygf |
T |
C |
1: 65,967,130 (GRCm39) |
S85P |
probably benign |
Het |
| Dip2c |
T |
A |
13: 9,709,314 (GRCm39) |
Y1385N |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,454,509 (GRCm39) |
V840I |
possibly damaging |
Het |
| Fgfr4 |
A |
T |
13: 55,314,013 (GRCm39) |
S576C |
probably damaging |
Het |
| Frmd8 |
T |
C |
19: 5,919,546 (GRCm39) |
D167G |
probably damaging |
Het |
| Gm5105 |
G |
A |
3: 137,755,319 (GRCm39) |
T89I |
unknown |
Het |
| Grhl1 |
C |
T |
12: 24,625,996 (GRCm39) |
S35L |
possibly damaging |
Het |
| Gsn |
A |
G |
2: 35,183,518 (GRCm39) |
E242G |
probably benign |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,661 (GRCm39) |
I140T |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,431,135 (GRCm39) |
Y208H |
possibly damaging |
Het |
| Ighv1-58 |
T |
C |
12: 115,275,985 (GRCm39) |
Y51C |
probably damaging |
Het |
| Iqcj |
T |
A |
3: 67,948,580 (GRCm39) |
Y21* |
probably null |
Het |
| Kcnc4 |
T |
C |
3: 107,366,178 (GRCm39) |
Y10C |
probably benign |
Het |
| Kcnk7 |
G |
T |
19: 5,756,160 (GRCm39) |
G129W |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 180,723,517 (GRCm39) |
R620* |
probably null |
Het |
| Klk13 |
C |
A |
7: 43,376,126 (GRCm39) |
P267Q |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,012,488 (GRCm39) |
M729L |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,918,044 (GRCm39) |
|
probably null |
Het |
| Med13l |
G |
A |
5: 118,890,051 (GRCm39) |
R1909H |
probably damaging |
Het |
| Mstn |
T |
A |
1: 53,103,243 (GRCm39) |
L193Q |
possibly damaging |
Het |
| Mylk |
T |
C |
16: 34,820,796 (GRCm39) |
V125A |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,647,233 (GRCm39) |
M547L |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,952,785 (GRCm39) |
S1256P |
probably damaging |
Het |
| Nkain1 |
T |
C |
4: 130,532,118 (GRCm38) |
Y189C |
probably damaging |
Het |
| Oosp3 |
T |
A |
19: 11,676,783 (GRCm39) |
D47E |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,393 (GRCm39) |
I174N |
probably damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,600 (GRCm39) |
I227F |
probably benign |
Het |
| Or5h25 |
A |
G |
16: 58,930,970 (GRCm39) |
M1T |
probably null |
Het |
| Or5p66 |
T |
G |
7: 107,885,551 (GRCm39) |
I261L |
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,302,186 (GRCm39) |
G942W |
probably damaging |
Het |
| Pcyox1l |
C |
A |
18: 61,840,625 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,711,838 (GRCm39) |
E1128G |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plscr1 |
T |
A |
9: 92,146,715 (GRCm39) |
V119D |
probably damaging |
Het |
| Prss56 |
A |
T |
1: 87,113,670 (GRCm39) |
D258V |
possibly damaging |
Het |
| Ptpn23 |
T |
G |
9: 110,214,884 (GRCm39) |
K85Q |
possibly damaging |
Het |
| Ranbp3l |
C |
A |
15: 9,037,159 (GRCm39) |
S7Y |
probably benign |
Het |
| Rnf31 |
T |
C |
14: 55,829,690 (GRCm39) |
L85P |
probably damaging |
Het |
| Rptn |
T |
C |
3: 93,305,207 (GRCm39) |
C847R |
possibly damaging |
Het |
| Six4 |
T |
A |
12: 73,155,727 (GRCm39) |
E413D |
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,212,143 (GRCm39) |
V1115A |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,220,755 (GRCm39) |
K401E |
unknown |
Het |
| Srbd1 |
T |
A |
17: 86,443,843 (GRCm39) |
R128W |
possibly damaging |
Het |
| Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
| Susd1 |
T |
G |
4: 59,390,627 (GRCm39) |
T230P |
probably benign |
Het |
| Thumpd2 |
G |
T |
17: 81,363,326 (GRCm39) |
S47* |
probably null |
Het |
| Tmprss11a |
C |
T |
5: 86,576,429 (GRCm39) |
V141I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,821,741 (GRCm39) |
Y438C |
possibly damaging |
Het |
| Tnfrsf1a |
T |
C |
6: 125,333,914 (GRCm39) |
S56P |
probably damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,610 (GRCm39) |
W90R |
probably benign |
Het |
| Utp25 |
A |
G |
1: 192,797,163 (GRCm39) |
I563T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr20rt |
A |
T |
12: 65,272,536 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
C |
A |
7: 127,481,494 (GRCm39) |
Q1224K |
probably benign |
Het |
|
| Other mutations in Dsg1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Dsg1a
|
APN |
18 |
20,473,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01148:Dsg1a
|
APN |
18 |
20,453,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01534:Dsg1a
|
APN |
18 |
20,474,053 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01566:Dsg1a
|
APN |
18 |
20,469,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL01582:Dsg1a
|
APN |
18 |
20,461,905 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01913:Dsg1a
|
APN |
18 |
20,455,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Dsg1a
|
APN |
18 |
20,466,641 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02102:Dsg1a
|
APN |
18 |
20,465,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02900:Dsg1a
|
APN |
18 |
20,461,713 (GRCm39) |
splice site |
probably benign |
|
|
IGL02937:Dsg1a
|
APN |
18 |
20,464,591 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02962:Dsg1a
|
APN |
18 |
20,473,381 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03003:Dsg1a
|
APN |
18 |
20,469,876 (GRCm39) |
missense |
probably benign |
0.43 |
|
PIT4687001:Dsg1a
|
UTSW |
18 |
20,464,755 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0126:Dsg1a
|
UTSW |
18 |
20,473,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0200:Dsg1a
|
UTSW |
18 |
20,473,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0284:Dsg1a
|
UTSW |
18 |
20,464,684 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0394:Dsg1a
|
UTSW |
18 |
20,466,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Dsg1a
|
UTSW |
18 |
20,473,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Dsg1a
|
UTSW |
18 |
20,468,949 (GRCm39) |
splice site |
probably benign |
|
|
R0733:Dsg1a
|
UTSW |
18 |
20,471,725 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0750:Dsg1a
|
UTSW |
18 |
20,473,210 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1300:Dsg1a
|
UTSW |
18 |
20,465,206 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1501:Dsg1a
|
UTSW |
18 |
20,465,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Dsg1a
|
UTSW |
18 |
20,455,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1673:Dsg1a
|
UTSW |
18 |
20,464,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Dsg1a
|
UTSW |
18 |
20,471,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Dsg1a
|
UTSW |
18 |
20,466,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Dsg1a
|
UTSW |
18 |
20,473,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Dsg1a
|
UTSW |
18 |
20,473,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Dsg1a
|
UTSW |
18 |
20,469,861 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3031:Dsg1a
|
UTSW |
18 |
20,473,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4044:Dsg1a
|
UTSW |
18 |
20,457,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4075:Dsg1a
|
UTSW |
18 |
20,473,127 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4644:Dsg1a
|
UTSW |
18 |
20,473,785 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4661:Dsg1a
|
UTSW |
18 |
20,473,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4816:Dsg1a
|
UTSW |
18 |
20,466,779 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5221:Dsg1a
|
UTSW |
18 |
20,457,071 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5257:Dsg1a
|
UTSW |
18 |
20,453,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Dsg1a
|
UTSW |
18 |
20,474,011 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5547:Dsg1a
|
UTSW |
18 |
20,469,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5702:Dsg1a
|
UTSW |
18 |
20,469,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5987:Dsg1a
|
UTSW |
18 |
20,464,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Dsg1a
|
UTSW |
18 |
20,473,304 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6170:Dsg1a
|
UTSW |
18 |
20,469,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7201:Dsg1a
|
UTSW |
18 |
20,461,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7730:Dsg1a
|
UTSW |
18 |
20,464,768 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7814:Dsg1a
|
UTSW |
18 |
20,471,572 (GRCm39) |
splice site |
probably null |
|
|
R8185:Dsg1a
|
UTSW |
18 |
20,473,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Dsg1a
|
UTSW |
18 |
20,465,090 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8377:Dsg1a
|
UTSW |
18 |
20,466,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8409:Dsg1a
|
UTSW |
18 |
20,473,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775:Dsg1a
|
UTSW |
18 |
20,473,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8775-TAIL:Dsg1a
|
UTSW |
18 |
20,473,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8818:Dsg1a
|
UTSW |
18 |
20,473,599 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8821:Dsg1a
|
UTSW |
18 |
20,453,365 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8831:Dsg1a
|
UTSW |
18 |
20,453,365 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9030:Dsg1a
|
UTSW |
18 |
20,473,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Dsg1a
|
UTSW |
18 |
20,473,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9239:Dsg1a
|
UTSW |
18 |
20,473,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9410:Dsg1a
|
UTSW |
18 |
20,464,590 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCACAGTGGGAAAAGTG -3'
(R):5'- TGCTTTCCCCAAACCTGATG -3'
Sequencing Primer
(F):5'- TGCAATTATAAGCAGGGATGTTG -3'
(R):5'- TTTGAATGCTTATTATCCTGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation