Incidental Mutation 'R9422:Adamts18'
ID |
712384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts18
|
Ensembl Gene |
ENSMUSG00000053399 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
Synonyms |
E130314N14Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R9422 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 114501910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 317
(Y317F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093113]
[ENSMUST00000212665]
|
AlphaFold |
Q4VC17 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093113
AA Change: Y317F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090801 Gene: ENSMUSG00000053399 AA Change: Y317F
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 |
probably benign
Transcript: ENSMUST00000212437
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212665
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (55/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
A |
16: 4,667,153 (GRCm39) |
V209I |
|
Het |
Adgrg6 |
C |
T |
10: 14,302,740 (GRCm39) |
R863H |
probably damaging |
Het |
Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
Ank2 |
C |
A |
3: 126,890,505 (GRCm39) |
K55N |
unknown |
Het |
B3galnt2 |
A |
G |
13: 14,150,136 (GRCm39) |
T160A |
probably benign |
Het |
Becn1 |
C |
A |
11: 101,192,832 (GRCm39) |
|
probably benign |
Het |
Ccdc57 |
T |
C |
11: 120,764,444 (GRCm39) |
N777S |
possibly damaging |
Het |
Cd302 |
T |
C |
2: 60,082,697 (GRCm39) |
Y209C |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,699,851 (GRCm39) |
V63A |
probably benign |
Het |
Clasp1 |
T |
A |
1: 118,390,257 (GRCm39) |
I147N |
possibly damaging |
Het |
Cmtm3 |
A |
T |
8: 105,067,358 (GRCm39) |
|
probably benign |
Het |
Cmtm3 |
G |
T |
8: 105,067,359 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
A |
T |
4: 47,293,364 (GRCm39) |
|
probably null |
Het |
Csn3 |
A |
G |
5: 88,077,872 (GRCm39) |
N126S |
probably benign |
Het |
Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,170,691 (GRCm39) |
H729Q |
possibly damaging |
Het |
Dop1a |
C |
T |
9: 86,425,093 (GRCm39) |
H2138Y |
probably damaging |
Het |
Fbxo2 |
T |
C |
4: 148,248,616 (GRCm39) |
L36P |
unknown |
Het |
Gzmg |
T |
A |
14: 56,395,812 (GRCm39) |
Y49F |
probably benign |
Het |
H2bc3 |
A |
G |
13: 23,930,940 (GRCm39) |
I55V |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,313,213 (GRCm39) |
T1818A |
probably benign |
Het |
Ipmk |
T |
C |
10: 71,212,550 (GRCm39) |
S171P |
possibly damaging |
Het |
Milr1 |
T |
A |
11: 106,657,805 (GRCm39) |
Y239N |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,553,102 (GRCm39) |
N4397S |
probably benign |
Het |
Nell1 |
C |
A |
7: 49,712,387 (GRCm39) |
S69* |
probably null |
Het |
Nme8 |
A |
G |
13: 19,859,918 (GRCm39) |
V234A |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,054,668 (GRCm39) |
S2444G |
probably damaging |
Het |
Odad3 |
T |
A |
9: 21,913,628 (GRCm39) |
H48L |
possibly damaging |
Het |
Or5p75-ps1 |
A |
T |
7: 108,108,155 (GRCm39) |
K297N |
unknown |
Het |
Or7g35 |
T |
A |
9: 19,495,968 (GRCm39) |
I45K |
probably damaging |
Het |
Pex5l |
T |
C |
3: 33,136,401 (GRCm39) |
|
probably benign |
Het |
Pgm3 |
A |
T |
9: 86,443,938 (GRCm39) |
L322H |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,326,730 (GRCm39) |
F221L |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,382,982 (GRCm39) |
K79M |
probably damaging |
Het |
Prkaa2 |
A |
G |
4: 104,909,195 (GRCm39) |
I83T |
probably benign |
Het |
R3hdml |
A |
G |
2: 163,334,526 (GRCm39) |
T39A |
probably benign |
Het |
Ralgds |
A |
G |
2: 28,435,184 (GRCm39) |
M447V |
probably benign |
Het |
Rgs2 |
T |
C |
1: 143,878,783 (GRCm39) |
D40G |
probably damaging |
Het |
Robo3 |
T |
C |
9: 37,329,789 (GRCm39) |
M1176V |
probably benign |
Het |
Rpap1 |
G |
A |
2: 119,613,519 (GRCm39) |
|
probably benign |
Het |
Skic3 |
A |
T |
13: 76,278,447 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
C |
17: 28,857,560 (GRCm39) |
D861G |
possibly damaging |
Het |
Slc4a8 |
A |
T |
15: 100,698,469 (GRCm39) |
I705F |
probably benign |
Het |
Slco3a1 |
C |
T |
7: 73,946,996 (GRCm39) |
V576I |
probably damaging |
Het |
Socs7 |
A |
G |
11: 97,253,973 (GRCm39) |
D169G |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,637,933 (GRCm39) |
V878A |
probably benign |
Het |
Thop1 |
C |
T |
10: 80,916,001 (GRCm39) |
R395W |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,017,897 (GRCm39) |
H765Q |
probably benign |
Het |
Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
Vmn1r233 |
T |
A |
17: 21,214,069 (GRCm39) |
M294L |
possibly damaging |
Het |
Vmn1r27 |
T |
C |
6: 58,192,867 (GRCm39) |
T46A |
probably benign |
Het |
Vmn2r28 |
A |
G |
7: 5,483,747 (GRCm39) |
S818P |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,430,850 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
A |
G |
7: 6,308,321 (GRCm39) |
M330V |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,071 (GRCm39) |
Y725C |
probably damaging |
Het |
Zhx3 |
C |
T |
2: 160,624,020 (GRCm39) |
S49N |
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 |
R3963:Adamts18
|
UTSW |
8 |
114,504,443 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- TGTAGGTTTCAATCTTACCAGACTC -3'
(R):5'- TCTCAGCCTATGTCACCCAG -3'
Sequencing Primer
(F):5'- GGTTTCAATCTTACCAGACTCAAAAG -3'
(R):5'- AGCCTATGTCACCCAGATTTTG -3'
|
Posted On |
2022-05-16 |