Incidental Mutation 'R9450:Adamts18'
| ID |
714192 |
| 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 # |
R9450 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 114490942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 508
(D508E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093113]
[ENSMUST00000212665]
|
| AlphaFold |
Q4VC17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093113
AA Change: D508E
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: D508E
| 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 |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 2810004N23Rik |
T |
C |
8: 125,567,215 (GRCm39) |
K229E |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,859,930 (GRCm39) |
T523A |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,855,762 (GRCm39) |
E558G |
probably benign |
Het |
| Arid4a |
A |
T |
12: 71,119,374 (GRCm39) |
D331V |
|
Het |
| Ash1l |
A |
T |
3: 88,915,139 (GRCm39) |
K1923M |
possibly damaging |
Het |
| Atad2b |
T |
A |
12: 5,063,859 (GRCm39) |
S947T |
probably benign |
Het |
| B4galt1 |
A |
T |
4: 40,853,804 (GRCm39) |
M1K |
probably null |
Het |
| Ccpg1 |
G |
A |
9: 72,904,703 (GRCm39) |
S4N |
unknown |
Het |
| Cfap43 |
A |
T |
19: 47,886,310 (GRCm39) |
L102M |
probably benign |
Het |
| Clic6 |
T |
C |
16: 92,327,644 (GRCm39) |
I483T |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,661,373 (GRCm39) |
D245E |
probably benign |
Het |
| Cpsf7 |
G |
A |
19: 10,518,213 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,091,354 (GRCm39) |
D721G |
probably benign |
Het |
| Dhx29 |
C |
T |
13: 113,083,862 (GRCm39) |
T639I |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,861,426 (GRCm39) |
E1397G |
unknown |
Het |
| Dsp |
C |
T |
13: 38,376,379 (GRCm39) |
T1388M |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,183,425 (GRCm39) |
G73D |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,893,076 (GRCm39) |
D960G |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,200,615 (GRCm39) |
V764A |
probably damaging |
Het |
| Grk3 |
T |
C |
5: 113,062,913 (GRCm39) |
K645E |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 53,878,188 (GRCm39) |
Y1339* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,316,845 (GRCm39) |
T3808N |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,355,055 (GRCm39) |
N129K |
possibly damaging |
Het |
| Iqca1l |
T |
A |
5: 24,754,447 (GRCm39) |
I395F |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,874,097 (GRCm39) |
Y340H |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,372 (GRCm39) |
I460M |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,242,739 (GRCm39) |
I599T |
possibly damaging |
Het |
| Kif1b |
A |
C |
4: 149,322,467 (GRCm39) |
D817E |
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,357,760 (GRCm39) |
C94* |
probably null |
Het |
| Larp1 |
T |
C |
11: 57,941,890 (GRCm39) |
S743P |
probably damaging |
Het |
| Ldlrap1 |
T |
C |
4: 134,474,490 (GRCm39) |
N267S |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,851,064 (GRCm39) |
L92P |
probably damaging |
Het |
| Ly6g2 |
T |
A |
15: 75,092,574 (GRCm39) |
C98S |
probably damaging |
Het |
| Mns1 |
C |
A |
9: 72,359,890 (GRCm39) |
Q347K |
probably benign |
Het |
| Myof |
A |
T |
19: 37,949,374 (GRCm39) |
F611I |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,117,601 (GRCm39) |
L76P |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,616,008 (GRCm39) |
H114R |
|
Het |
| Or10g3 |
G |
C |
14: 52,610,110 (GRCm39) |
Y133* |
probably null |
Het |
| Or1e30 |
C |
A |
11: 73,678,101 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,398 (GRCm39) |
N191K |
probably benign |
Het |
| Pcdha12 |
A |
G |
18: 37,153,992 (GRCm39) |
D237G |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
A |
T |
11: 71,952,412 (GRCm39) |
M593K |
possibly damaging |
Het |
| Plxdc1 |
C |
T |
11: 97,845,681 (GRCm39) |
V211I |
probably damaging |
Het |
| Prkn |
C |
A |
17: 12,057,521 (GRCm39) |
H301N |
possibly damaging |
Het |
| Prpf38a |
A |
T |
4: 108,430,072 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,697,105 (GRCm39) |
T1769A |
probably benign |
Het |
| Spata31f1e |
G |
T |
4: 42,793,833 (GRCm39) |
Q100K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,884,896 (GRCm39) |
D153G |
possibly damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,637 (GRCm39) |
M713K |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,894,434 (GRCm39) |
K966E |
possibly damaging |
Het |
| Vars2 |
T |
C |
17: 35,973,027 (GRCm39) |
T421A |
probably damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,984,770 (GRCm39) |
C298* |
probably null |
Het |
| Vps35l |
T |
C |
7: 118,352,118 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
T |
C |
7: 120,403,253 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
G |
T |
4: 138,315,940 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Zbtb46 |
T |
C |
2: 181,037,281 (GRCm39) |
K454E |
probably damaging |
Het |
| Zfp426 |
T |
C |
9: 20,381,577 (GRCm39) |
H470R |
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 |
|
R9422:Adamts18
|
UTSW |
8 |
114,501,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTTTGGCCTCAGCAAACCAAATG -3'
(R):5'- AGATGGGACTCACTCTTTGC -3'
Sequencing Primer
(F):5'- TGGCCTCAGCAAACCAAATGTTTATC -3'
(R):5'- GTCACAGATGAACAGAGC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation