Incidental Mutation 'IGL02756:Adamts18'
| ID |
306477 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
IGL02756
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 114440976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093113]
[ENSMUST00000212665]
|
| AlphaFold |
Q4VC17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093113
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213076
|
| Coding Region Coverage |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,000,970 (GRCm39) |
D54V |
probably damaging |
Het |
| Angptl3 |
T |
A |
4: 98,919,399 (GRCm39) |
L53Q |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,447,588 (GRCm39) |
T1461A |
probably damaging |
Het |
| Arl11 |
T |
A |
14: 61,548,535 (GRCm39) |
V115D |
probably damaging |
Het |
| Cabp4 |
C |
A |
19: 4,188,560 (GRCm39) |
V173L |
possibly damaging |
Het |
| Casq1 |
T |
A |
1: 172,042,672 (GRCm39) |
D230V |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,936,824 (GRCm39) |
I821V |
possibly damaging |
Het |
| Cfap65 |
T |
C |
1: 74,944,239 (GRCm39) |
Y1494C |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,951,069 (GRCm39) |
S215T |
probably damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,169,049 (GRCm39) |
E593G |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,217,795 (GRCm39) |
D136G |
probably damaging |
Het |
| Ddx19b |
T |
C |
8: 111,737,910 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,716 (GRCm39) |
L1396Q |
probably benign |
Het |
| Ermn |
A |
G |
2: 57,937,824 (GRCm39) |
I263T |
probably damaging |
Het |
| F12 |
T |
A |
13: 55,568,880 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Far2 |
A |
T |
6: 148,058,889 (GRCm39) |
I192F |
probably damaging |
Het |
| Fshb |
T |
A |
2: 106,889,218 (GRCm39) |
I29F |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,427,811 (GRCm39) |
Y251N |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,890 (GRCm39) |
I997V |
possibly damaging |
Het |
| Gprc5d |
A |
G |
6: 135,093,613 (GRCm39) |
V98A |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,342,580 (GRCm39) |
E186G |
probably damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,896,685 (GRCm39) |
T115I |
probably benign |
Het |
| Kifap3 |
C |
T |
1: 163,689,597 (GRCm39) |
T527M |
probably damaging |
Het |
| Mfsd2a |
C |
T |
4: 122,842,332 (GRCm39) |
A512T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,235 (GRCm39) |
D135G |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,784,016 (GRCm39) |
V1394A |
probably benign |
Het |
| Nek9 |
A |
C |
12: 85,358,110 (GRCm39) |
|
probably null |
Het |
| Or51q1c |
T |
C |
7: 103,652,866 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8k16 |
T |
C |
2: 85,520,402 (GRCm39) |
S210P |
probably damaging |
Het |
| P2rx2 |
T |
A |
5: 110,490,276 (GRCm39) |
|
probably benign |
Het |
| P4htm |
A |
G |
9: 108,456,977 (GRCm39) |
L410P |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,963,748 (GRCm39) |
W921R |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,175 (GRCm39) |
F288L |
probably benign |
Het |
| Ppp4r3a |
C |
T |
12: 101,024,582 (GRCm39) |
|
probably null |
Het |
| Prss34 |
T |
C |
17: 25,518,251 (GRCm39) |
S144P |
probably damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,758,110 (GRCm39) |
T328A |
probably benign |
Het |
| Rab33b |
A |
T |
3: 51,391,945 (GRCm39) |
T65S |
probably damaging |
Het |
| Rdh8 |
A |
G |
9: 20,736,637 (GRCm39) |
S235G |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,884,500 (GRCm39) |
K6R |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,587,560 (GRCm39) |
D1025G |
probably benign |
Het |
| Sgo2a |
T |
G |
1: 58,055,509 (GRCm39) |
N564K |
probably damaging |
Het |
| Slc43a3 |
A |
T |
2: 84,774,612 (GRCm39) |
M130L |
probably benign |
Het |
| Soat1 |
T |
C |
1: 156,274,145 (GRCm39) |
I89V |
probably benign |
Het |
| St3gal5 |
A |
G |
6: 72,126,157 (GRCm39) |
D307G |
probably null |
Het |
| Stxbp3-ps |
C |
T |
19: 9,535,193 (GRCm39) |
|
noncoding transcript |
Het |
| Tacr2 |
A |
G |
10: 62,097,469 (GRCm39) |
|
probably benign |
Het |
| Tg |
C |
T |
15: 66,606,435 (GRCm39) |
T193I |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,596,179 (GRCm39) |
T191A |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,374,256 (GRCm39) |
|
probably benign |
Het |
| Usf2 |
A |
T |
7: 30,646,417 (GRCm39) |
C134* |
probably null |
Het |
| Usp14 |
A |
G |
18: 10,001,769 (GRCm39) |
|
probably null |
Het |
| Usp47 |
T |
C |
7: 111,692,270 (GRCm39) |
S911P |
possibly damaging |
Het |
| Vmn1r73 |
T |
A |
7: 11,490,574 (GRCm39) |
S131T |
possibly damaging |
Het |
| Vmn2r80 |
T |
C |
10: 79,030,145 (GRCm39) |
I657T |
probably damaging |
Het |
| Zfp935 |
A |
T |
13: 62,602,701 (GRCm39) |
C166* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation