Incidental Mutation 'R3963:Adamts18'
| ID |
312188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| MMRRC Submission |
040932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R3963 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114504443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 59
(D59G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093113]
[ENSMUST00000212665]
|
| AlphaFold |
Q4VC17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093113
AA Change: D216G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: D216G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
63 |
203 |
3.4e-37 |
PFAM |
|
Pfam:Reprolysin_5
|
292 |
473 |
1.3e-14 |
PFAM |
|
Pfam:Reprolysin_4
|
294 |
494 |
2.6e-11 |
PFAM |
|
Pfam:Reprolysin
|
294 |
498 |
2.7e-30 |
PFAM |
|
Pfam:Reprolysin_2
|
311 |
488 |
1.7e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
315 |
447 |
1.5e-11 |
PFAM |
|
TSP1
|
592 |
644 |
7.37e-17 |
SMART |
|
Pfam:ADAM_spacer1
|
749 |
861 |
1.7e-38 |
PFAM |
|
TSP1
|
878 |
932 |
1.55e-1 |
SMART |
|
TSP1
|
934 |
992 |
5.07e-6 |
SMART |
|
TSP1
|
994 |
1049 |
1.65e-5 |
SMART |
|
TSP1
|
1055 |
1116 |
1.71e-3 |
SMART |
|
TSP1
|
1125 |
1171 |
5.27e-4 |
SMART |
|
Pfam:PLAC
|
1186 |
1216 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212437
AA Change: D89G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212527
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212665
AA Change: D59G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213078
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
T |
3: 126,728,245 (GRCm39) |
S783T |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,468,025 (GRCm39) |
D1725G |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Btbd8 |
G |
A |
5: 107,655,222 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,252,011 (GRCm39) |
T101K |
possibly damaging |
Het |
| Ccdc85a |
A |
C |
11: 28,526,396 (GRCm39) |
M376R |
probably benign |
Het |
| Cd200r1 |
T |
A |
16: 44,613,158 (GRCm39) |
C255S |
probably benign |
Het |
| Cdc23 |
T |
C |
18: 34,779,972 (GRCm39) |
M119V |
probably benign |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Clptm1 |
C |
T |
7: 19,372,121 (GRCm39) |
W238* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,842,047 (GRCm39) |
V302A |
probably damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,431,969 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
A |
9: 64,769,613 (GRCm39) |
I440N |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,464,605 (GRCm39) |
M71K |
probably benign |
Het |
| Exoc3l2 |
G |
A |
7: 19,229,181 (GRCm39) |
G200S |
probably benign |
Het |
| Fhip2a |
T |
C |
19: 57,361,442 (GRCm39) |
L122P |
possibly damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,258,914 (GRCm39) |
I114N |
probably damaging |
Het |
| Fpr-rs6 |
G |
A |
17: 20,402,479 (GRCm39) |
P294L |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,940,638 (GRCm39) |
T428A |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,228 (GRCm39) |
M1K |
probably null |
Het |
| Gdf3 |
C |
T |
6: 122,583,717 (GRCm39) |
V217I |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,292,397 (GRCm39) |
|
probably null |
Het |
| Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
| Itpkc |
T |
C |
7: 26,926,934 (GRCm39) |
T327A |
probably damaging |
Het |
| Jade1 |
T |
C |
3: 41,555,845 (GRCm39) |
V304A |
probably damaging |
Het |
| Leo1 |
C |
A |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
A |
T |
3: 157,866,042 (GRCm39) |
L1233Q |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Matn2 |
C |
A |
15: 34,388,937 (GRCm39) |
Y342* |
probably null |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,315,454 (GRCm39) |
H244R |
possibly damaging |
Het |
| Mmaa |
A |
T |
8: 79,994,843 (GRCm39) |
V321E |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 109,842,184 (GRCm39) |
L196F |
probably damaging |
Het |
| Oas1e |
A |
G |
5: 120,932,205 (GRCm39) |
V146A |
probably damaging |
Het |
| Or52z1 |
G |
T |
7: 103,437,241 (GRCm39) |
T81K |
probably benign |
Het |
| Plcxd2 |
T |
C |
16: 45,800,864 (GRCm39) |
K120R |
probably damaging |
Het |
| Prex2 |
G |
T |
1: 11,180,581 (GRCm39) |
C382F |
possibly damaging |
Het |
| Psg29 |
T |
A |
7: 16,942,510 (GRCm39) |
H170Q |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,427,661 (GRCm39) |
T747A |
probably damaging |
Het |
| Qki |
G |
A |
17: 10,435,394 (GRCm39) |
|
probably benign |
Het |
| Rpusd2 |
A |
G |
2: 118,869,085 (GRCm39) |
T503A |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,194,370 (GRCm39) |
|
probably null |
Het |
| Snap91 |
A |
T |
9: 86,657,665 (GRCm39) |
W509R |
probably damaging |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tnfaip8 |
C |
A |
18: 50,223,653 (GRCm39) |
H154N |
possibly damaging |
Het |
| Trim35 |
T |
C |
14: 66,541,503 (GRCm39) |
L209P |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,954,816 (GRCm39) |
E60G |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,849,136 (GRCm39) |
|
probably benign |
Het |
| Tubg2 |
T |
C |
11: 101,051,224 (GRCm39) |
|
probably null |
Het |
| Ubap1l |
C |
T |
9: 65,276,477 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
A |
T |
4: 137,360,750 (GRCm39) |
R26* |
probably null |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,102 (GRCm39) |
V37A |
probably benign |
Het |
| Vmn2r4 |
T |
A |
3: 64,322,572 (GRCm39) |
N49I |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,588 (GRCm39) |
C374S |
probably benign |
Het |
|
| Other mutations in Adamts18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:Adamts18
|
APN |
8 |
114,501,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Adamts18
|
APN |
8 |
114,490,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01556:Adamts18
|
APN |
8 |
114,571,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01833:Adamts18
|
APN |
8 |
114,469,728 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02187:Adamts18
|
APN |
8 |
114,439,826 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02551:Adamts18
|
APN |
8 |
114,425,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Adamts18
|
APN |
8 |
114,440,976 (GRCm39) |
splice site |
probably benign |
|
|
IGL03188:Adamts18
|
APN |
8 |
114,425,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03411:Adamts18
|
APN |
8 |
114,490,929 (GRCm39) |
nonsense |
probably null |
|
|
G1patch:Adamts18
|
UTSW |
8 |
114,469,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Adamts18
|
UTSW |
8 |
114,501,585 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0378:Adamts18
|
UTSW |
8 |
114,469,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Adamts18
|
UTSW |
8 |
114,440,990 (GRCm39) |
nonsense |
probably null |
|
|
R0480:Adamts18
|
UTSW |
8 |
114,465,450 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0514:Adamts18
|
UTSW |
8 |
114,465,401 (GRCm39) |
splice site |
probably null |
|
|
R0924:Adamts18
|
UTSW |
8 |
114,432,028 (GRCm39) |
splice site |
probably null |
|
|
R0930:Adamts18
|
UTSW |
8 |
114,432,028 (GRCm39) |
splice site |
probably null |
|
|
R1333:Adamts18
|
UTSW |
8 |
114,431,805 (GRCm39) |
splice site |
probably benign |
|
|
R1441:Adamts18
|
UTSW |
8 |
114,481,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2082:Adamts18
|
UTSW |
8 |
114,501,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Adamts18
|
UTSW |
8 |
114,571,635 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2371:Adamts18
|
UTSW |
8 |
114,431,893 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3148:Adamts18
|
UTSW |
8 |
114,465,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4056:Adamts18
|
UTSW |
8 |
114,464,212 (GRCm39) |
nonsense |
probably null |
|
|
R4486:Adamts18
|
UTSW |
8 |
114,439,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4608:Adamts18
|
UTSW |
8 |
114,464,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4626:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4627:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4628:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4629:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4710:Adamts18
|
UTSW |
8 |
114,433,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4959:Adamts18
|
UTSW |
8 |
114,463,357 (GRCm39) |
nonsense |
probably null |
|
|
R4973:Adamts18
|
UTSW |
8 |
114,463,357 (GRCm39) |
nonsense |
probably null |
|
|
R4976:Adamts18
|
UTSW |
8 |
114,425,642 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5119:Adamts18
|
UTSW |
8 |
114,425,642 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5141:Adamts18
|
UTSW |
8 |
114,501,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Adamts18
|
UTSW |
8 |
114,425,606 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5587:Adamts18
|
UTSW |
8 |
114,501,992 (GRCm39) |
nonsense |
probably null |
|
|
R5868:Adamts18
|
UTSW |
8 |
114,504,380 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5893:Adamts18
|
UTSW |
8 |
114,499,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Adamts18
|
UTSW |
8 |
114,436,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5942:Adamts18
|
UTSW |
8 |
114,504,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6006:Adamts18
|
UTSW |
8 |
114,433,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6608:Adamts18
|
UTSW |
8 |
114,501,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6725:Adamts18
|
UTSW |
8 |
114,469,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Adamts18
|
UTSW |
8 |
114,501,922 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7276:Adamts18
|
UTSW |
8 |
114,501,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7292:Adamts18
|
UTSW |
8 |
114,436,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7411:Adamts18
|
UTSW |
8 |
114,504,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7685:Adamts18
|
UTSW |
8 |
114,439,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:Adamts18
|
UTSW |
8 |
114,463,566 (GRCm39) |
splice site |
probably null |
|
|
R7860:Adamts18
|
UTSW |
8 |
114,501,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Adamts18
|
UTSW |
8 |
114,493,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Adamts18
|
UTSW |
8 |
114,481,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Adamts18
|
UTSW |
8 |
114,493,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Adamts18
|
UTSW |
8 |
114,433,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:Adamts18
|
UTSW |
8 |
114,463,510 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9405:Adamts18
|
UTSW |
8 |
114,430,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:Adamts18
|
UTSW |
8 |
114,501,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9450:Adamts18
|
UTSW |
8 |
114,490,942 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9475:Adamts18
|
UTSW |
8 |
114,504,570 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1088:Adamts18
|
UTSW |
8 |
114,502,072 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Adamts18
|
UTSW |
8 |
114,469,800 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATGTCAGCAAACCCAG -3'
(R):5'- ACAAGGCAACACATGGAGTC -3'
Sequencing Primer
(F):5'- AGACTCCCCATTGAGGCC -3'
(R):5'- ATGGAGTCATGAGTGTGCTTTTTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation