Incidental Mutation 'R7411:Adamts18'
| ID |
575086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 18 |
| Synonyms |
E130314N14Rik |
| MMRRC Submission |
045492-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R7411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
113697126-113848738 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113777730 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 243
(Y243C)
|
| 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: Y243C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: Y243C
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212665
AA Change: Y86C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
T |
19: 3,717,241 (GRCm38) |
T276I |
possibly damaging |
Het |
| 9130011E15Rik |
A |
C |
19: 45,965,435 (GRCm38) |
V170G |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,328,569 (GRCm38) |
I277T |
possibly damaging |
Het |
| Abcb11 |
C |
T |
2: 69,303,936 (GRCm38) |
|
probably null |
Het |
| Abcc12 |
C |
A |
8: 86,560,850 (GRCm38) |
R122L |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 46,165,917 (GRCm38) |
|
probably null |
Het |
| Adam28 |
C |
T |
14: 68,626,947 (GRCm38) |
R469K |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,814,819 (GRCm38) |
S619P |
probably damaging |
Het |
| Alpk3 |
A |
T |
7: 81,092,852 (GRCm38) |
T806S |
probably benign |
Het |
| Atoh1 |
T |
A |
6: 64,729,930 (GRCm38) |
I203N |
probably damaging |
Het |
| Cables1 |
A |
G |
18: 11,840,515 (GRCm38) |
E237G |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 30,352,990 (GRCm38) |
M1T |
probably null |
Het |
| Ccdc91 |
C |
T |
6: 147,592,198 (GRCm38) |
Q363* |
probably null |
Het |
| Ceacam5 |
T |
A |
7: 17,750,753 (GRCm38) |
D473E |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,868,755 (GRCm38) |
D2821V |
unknown |
Het |
| Clca3a2 |
A |
G |
3: 144,802,099 (GRCm38) |
S737P |
probably damaging |
Het |
| Clec4n |
T |
A |
6: 123,232,186 (GRCm38) |
M70K |
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,417,666 (GRCm38) |
G21S |
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,081,475 (GRCm38) |
D265G |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,122,195 (GRCm38) |
|
probably null |
Het |
| Gm11639 |
T |
G |
11: 104,999,723 (GRCm38) |
N4210K |
probably benign |
Het |
| Gm28710 |
A |
T |
5: 16,824,765 (GRCm38) |
T500S |
possibly damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 142,240,817 (GRCm38) |
|
probably benign |
Het |
| Gm5861 |
T |
A |
5: 11,183,149 (GRCm38) |
|
probably null |
Het |
| Gm9513 |
T |
C |
9: 36,475,684 (GRCm38) |
V16A |
possibly damaging |
Het |
| Guk1 |
A |
G |
11: 59,185,985 (GRCm38) |
F91L |
|
Het |
| Ints1 |
C |
T |
5: 139,764,260 (GRCm38) |
E961K |
possibly damaging |
Het |
| Irx2 |
T |
A |
13: 72,629,063 (GRCm38) |
M1K |
probably null |
Het |
| Jrk |
C |
T |
15: 74,707,199 (GRCm38) |
R79H |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 25,892,088 (GRCm38) |
V489L |
probably damaging |
Het |
| Kctd7 |
C |
T |
5: 130,152,424 (GRCm38) |
T209M |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,426,815 (GRCm38) |
V1127E |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,826,943 (GRCm38) |
H69R |
probably damaging |
Het |
| Lck |
T |
C |
4: 129,551,970 (GRCm38) |
K340R |
probably benign |
Het |
| Lrrc75a |
A |
G |
11: 62,605,908 (GRCm38) |
L276P |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,878,243 (GRCm38) |
W730R |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,751,322 (GRCm38) |
V400A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,697,971 (GRCm38) |
V70L |
probably benign |
Het |
| Myt1 |
C |
A |
2: 181,815,106 (GRCm38) |
H906Q |
probably damaging |
Het |
| Ncl |
A |
T |
1: 86,350,842 (GRCm38) |
F673I |
probably damaging |
Het |
| Nfe2l1 |
G |
T |
11: 96,822,183 (GRCm38) |
T216N |
probably benign |
Het |
| Nos2 |
G |
A |
11: 78,944,855 (GRCm38) |
|
probably null |
Het |
| Nphp4 |
T |
A |
4: 152,554,717 (GRCm38) |
I935N |
probably benign |
Het |
| Ntn1 |
G |
A |
11: 68,386,089 (GRCm38) |
A11V |
probably benign |
Het |
| Olfr1257 |
T |
C |
2: 89,881,261 (GRCm38) |
V145A |
probably damaging |
Het |
| Olfr1395 |
A |
T |
11: 49,148,994 (GRCm38) |
M246L |
probably benign |
Het |
| Pcdha12 |
A |
G |
18: 37,021,608 (GRCm38) |
Y460C |
probably damaging |
Het |
| Pcdha4 |
G |
T |
18: 36,953,058 (GRCm38) |
R98L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,212,572 (GRCm38) |
S234P |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 109,513,871 (GRCm38) |
Y195F |
probably damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,318,142 (GRCm38) |
I164T |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,472,192 (GRCm38) |
|
probably null |
Het |
| Rhbdl2 |
G |
A |
4: 123,829,642 (GRCm38) |
A280T |
possibly damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,579,932 (GRCm38) |
|
probably benign |
Het |
| Sema3a |
T |
G |
5: 13,516,263 (GRCm38) |
Y171* |
probably null |
Het |
| Set |
A |
G |
2: 30,066,885 (GRCm38) |
E22G |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,542,997 (GRCm38) |
D229E |
probably benign |
Het |
| Slc12a2 |
A |
T |
18: 57,941,013 (GRCm38) |
I1096F |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,818,180 (GRCm38) |
I159V |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 126,389,038 (GRCm38) |
|
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,604,948 (GRCm38) |
I275T |
probably benign |
Het |
| Stradb |
A |
C |
1: 58,988,518 (GRCm38) |
D69A |
possibly damaging |
Het |
| Supt16 |
A |
T |
14: 52,178,051 (GRCm38) |
V409E |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,686,664 (GRCm38) |
N195S |
probably damaging |
Het |
| Thumpd3 |
T |
C |
6: 113,056,111 (GRCm38) |
V270A |
possibly damaging |
Het |
| Urgcp |
T |
A |
11: 5,718,116 (GRCm38) |
H117L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,972,001 (GRCm38) |
M3408K |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 33,106,131 (GRCm38) |
M1078R |
|
Het |
| Wdr63 |
A |
G |
3: 146,097,145 (GRCm38) |
V97A |
probably damaging |
Het |
| Ypel5 |
G |
A |
17: 72,846,444 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Adamts18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:Adamts18
|
APN |
8 |
113,774,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01548:Adamts18
|
APN |
8 |
113,764,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01556:Adamts18
|
APN |
8 |
113,845,109 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01833:Adamts18
|
APN |
8 |
113,743,096 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02187:Adamts18
|
APN |
8 |
113,713,194 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02551:Adamts18
|
APN |
8 |
113,699,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02756:Adamts18
|
APN |
8 |
113,714,344 (GRCm38) |
splice site |
probably benign |
|
|
IGL03188:Adamts18
|
APN |
8 |
113,699,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03411:Adamts18
|
APN |
8 |
113,764,297 (GRCm38) |
nonsense |
probably null |
|
|
G1patch:Adamts18
|
UTSW |
8 |
113,743,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0119:Adamts18
|
UTSW |
8 |
113,774,953 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0378:Adamts18
|
UTSW |
8 |
113,743,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0410:Adamts18
|
UTSW |
8 |
113,714,358 (GRCm38) |
nonsense |
probably null |
|
|
R0480:Adamts18
|
UTSW |
8 |
113,738,818 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0514:Adamts18
|
UTSW |
8 |
113,738,769 (GRCm38) |
splice site |
probably null |
|
|
R0924:Adamts18
|
UTSW |
8 |
113,705,396 (GRCm38) |
splice site |
probably null |
|
|
R0930:Adamts18
|
UTSW |
8 |
113,705,396 (GRCm38) |
splice site |
probably null |
|
|
R1333:Adamts18
|
UTSW |
8 |
113,705,173 (GRCm38) |
splice site |
probably benign |
|
|
R1441:Adamts18
|
UTSW |
8 |
113,754,562 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2082:Adamts18
|
UTSW |
8 |
113,775,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Adamts18
|
UTSW |
8 |
113,845,003 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R2371:Adamts18
|
UTSW |
8 |
113,705,261 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3148:Adamts18
|
UTSW |
8 |
113,738,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3963:Adamts18
|
UTSW |
8 |
113,777,811 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4056:Adamts18
|
UTSW |
8 |
113,737,580 (GRCm38) |
nonsense |
probably null |
|
|
R4486:Adamts18
|
UTSW |
8 |
113,713,193 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4608:Adamts18
|
UTSW |
8 |
113,737,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4624:Adamts18
|
UTSW |
8 |
113,773,168 (GRCm38) |
nonsense |
probably null |
|
|
R4626:Adamts18
|
UTSW |
8 |
113,773,168 (GRCm38) |
nonsense |
probably null |
|
|
R4627:Adamts18
|
UTSW |
8 |
113,773,168 (GRCm38) |
nonsense |
probably null |
|
|
R4628:Adamts18
|
UTSW |
8 |
113,773,168 (GRCm38) |
nonsense |
probably null |
|
|
R4629:Adamts18
|
UTSW |
8 |
113,773,168 (GRCm38) |
nonsense |
probably null |
|
|
R4710:Adamts18
|
UTSW |
8 |
113,706,926 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4959:Adamts18
|
UTSW |
8 |
113,736,725 (GRCm38) |
nonsense |
probably null |
|
|
R4973:Adamts18
|
UTSW |
8 |
113,736,725 (GRCm38) |
nonsense |
probably null |
|
|
R4976:Adamts18
|
UTSW |
8 |
113,699,010 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5119:Adamts18
|
UTSW |
8 |
113,699,010 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5141:Adamts18
|
UTSW |
8 |
113,775,270 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5422:Adamts18
|
UTSW |
8 |
113,698,974 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5587:Adamts18
|
UTSW |
8 |
113,775,360 (GRCm38) |
nonsense |
probably null |
|
|
R5868:Adamts18
|
UTSW |
8 |
113,777,748 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R5893:Adamts18
|
UTSW |
8 |
113,773,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5906:Adamts18
|
UTSW |
8 |
113,709,619 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5942:Adamts18
|
UTSW |
8 |
113,777,748 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6006:Adamts18
|
UTSW |
8 |
113,706,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6608:Adamts18
|
UTSW |
8 |
113,775,279 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6725:Adamts18
|
UTSW |
8 |
113,743,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7002:Adamts18
|
UTSW |
8 |
113,775,290 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7276:Adamts18
|
UTSW |
8 |
113,775,264 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7292:Adamts18
|
UTSW |
8 |
113,709,645 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7685:Adamts18
|
UTSW |
8 |
113,713,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7737:Adamts18
|
UTSW |
8 |
113,736,934 (GRCm38) |
splice site |
probably null |
|
|
R7860:Adamts18
|
UTSW |
8 |
113,775,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7936:Adamts18
|
UTSW |
8 |
113,767,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8197:Adamts18
|
UTSW |
8 |
113,754,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8363:Adamts18
|
UTSW |
8 |
113,767,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8759:Adamts18
|
UTSW |
8 |
113,706,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8934:Adamts18
|
UTSW |
8 |
113,736,878 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9405:Adamts18
|
UTSW |
8 |
113,703,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9422:Adamts18
|
UTSW |
8 |
113,775,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9450:Adamts18
|
UTSW |
8 |
113,764,310 (GRCm38) |
missense |
probably benign |
0.10 |
|
R9475:Adamts18
|
UTSW |
8 |
113,777,938 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
Z1088:Adamts18
|
UTSW |
8 |
113,775,440 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
Z1176:Adamts18
|
UTSW |
8 |
113,743,168 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAATCCTTTTGCTAGGCG -3'
(R):5'- GACAATGAATTCCTCATCTCACCG -3'
Sequencing Primer
(F):5'- TTTGCTAGGCGGCATCC -3'
(R):5'- TACCTCAGCTGCTGGCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation