Incidental Mutation 'R2177:Adamts19'
| ID |
236969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts19
|
| Ensembl Gene |
ENSMUSG00000053441 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 19 |
| Synonyms |
D230034E10Rik |
| MMRRC Submission |
040179-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2177 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
58969739-59187132 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59087626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 552
(L552P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052907]
|
| AlphaFold |
P59509 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052907
AA Change: L552P
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: L552P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
131 |
276 |
1.6e-21 |
PFAM |
|
Pfam:Reprolysin_5
|
326 |
523 |
1.7e-13 |
PFAM |
|
Pfam:Reprolysin_4
|
328 |
544 |
2e-10 |
PFAM |
|
Pfam:Reprolysin
|
328 |
548 |
9e-22 |
PFAM |
|
Pfam:Reprolysin_2
|
346 |
537 |
1.6e-9 |
PFAM |
|
Pfam:Reprolysin_3
|
350 |
496 |
3.4e-12 |
PFAM |
|
low complexity region
|
551 |
562 |
N/A |
INTRINSIC |
|
TSP1
|
639 |
689 |
5.68e-9 |
SMART |
|
Pfam:ADAM_spacer1
|
793 |
903 |
1.1e-31 |
PFAM |
|
TSP1
|
922 |
980 |
4.95e-2 |
SMART |
|
TSP1
|
982 |
1040 |
4.95e-2 |
SMART |
|
TSP1
|
1042 |
1086 |
1.62e-4 |
SMART |
|
TSP1
|
1093 |
1147 |
1.03e-6 |
SMART |
|
Pfam:PLAC
|
1167 |
1199 |
4.2e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (60/62) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. This gene is predominantly expressed in the ovary with lower levels of expression observed in kidney, heart, skeletal muscle, lung and testis. The encoded preproprotein undergoes proteolytic processing to generate an active protease. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,312 (GRCm39) |
N356K |
probably damaging |
Het |
| Acap2 |
C |
T |
16: 30,952,346 (GRCm39) |
|
probably null |
Het |
| Adamts2 |
T |
A |
11: 50,668,055 (GRCm39) |
M539K |
probably damaging |
Het |
| Aplp1 |
A |
T |
7: 30,141,946 (GRCm39) |
C210* |
probably null |
Het |
| Apoa1 |
A |
T |
9: 46,141,371 (GRCm39) |
K156* |
probably null |
Het |
| AW551984 |
G |
A |
9: 39,511,111 (GRCm39) |
R159C |
probably benign |
Het |
| Bok |
C |
T |
1: 93,622,787 (GRCm39) |
Q112* |
probably null |
Het |
| Cemip2 |
T |
C |
19: 21,789,149 (GRCm39) |
S528P |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,463,885 (GRCm39) |
I323L |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,675,803 (GRCm39) |
E270D |
probably damaging |
Het |
| Ch25h |
G |
T |
19: 34,452,097 (GRCm39) |
L144M |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,099,057 (GRCm39) |
I429F |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,611 (GRCm39) |
T115S |
probably benign |
Het |
| Csf1r |
T |
A |
18: 61,248,015 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,539,028 (GRCm39) |
T279A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,872,367 (GRCm39) |
H452R |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,411,524 (GRCm39) |
D1784V |
probably damaging |
Het |
| Exo1 |
T |
A |
1: 175,710,456 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
G |
8: 72,164,905 (GRCm39) |
S459P |
probably damaging |
Het |
| Fxyd4 |
C |
T |
6: 117,911,393 (GRCm39) |
A56T |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,254,109 (GRCm39) |
S599P |
probably benign |
Het |
| Iqce |
T |
C |
5: 140,677,348 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,601,648 (GRCm39) |
F256L |
probably damaging |
Het |
| Klk1b1 |
G |
T |
7: 43,618,695 (GRCm39) |
R24L |
possibly damaging |
Het |
| Krtap16-1 |
A |
G |
11: 99,877,275 (GRCm39) |
V43A |
probably damaging |
Het |
| Maea |
C |
G |
5: 33,529,034 (GRCm39) |
Q326E |
probably benign |
Het |
| Man1a2 |
A |
T |
3: 100,539,847 (GRCm39) |
I308N |
probably damaging |
Het |
| Marf1 |
G |
T |
16: 13,970,471 (GRCm39) |
R83S |
probably benign |
Het |
| Me3 |
A |
C |
7: 89,282,278 (GRCm39) |
T54P |
probably benign |
Het |
| Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,978,560 (GRCm39) |
N664S |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,128 (GRCm39) |
V199A |
probably benign |
Het |
| Mrpl36 |
T |
A |
13: 73,479,588 (GRCm39) |
F33I |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,054,686 (GRCm39) |
T947S |
probably benign |
Het |
| Or14c45 |
G |
A |
7: 86,176,870 (GRCm39) |
V302I |
probably benign |
Het |
| Or4b1d |
T |
A |
2: 89,968,808 (GRCm39) |
H225L |
possibly damaging |
Het |
| Or8b55 |
A |
T |
9: 38,727,482 (GRCm39) |
I228F |
possibly damaging |
Het |
| Parp4 |
A |
T |
14: 56,896,746 (GRCm39) |
R1923S |
unknown |
Het |
| Pcm1 |
T |
C |
8: 41,729,002 (GRCm39) |
V658A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,322,791 (GRCm39) |
S26G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,184,081 (GRCm39) |
H433Q |
possibly damaging |
Het |
| Rab7 |
T |
C |
6: 87,982,063 (GRCm39) |
D104G |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,551,632 (GRCm39) |
V282A |
possibly damaging |
Het |
| Rdh13 |
T |
C |
7: 4,430,666 (GRCm39) |
E264G |
possibly damaging |
Het |
| Rock1 |
C |
G |
18: 10,070,263 (GRCm39) |
R1270T |
probably benign |
Het |
| Sdhaf4 |
C |
T |
1: 24,035,370 (GRCm39) |
G93R |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,595,228 (GRCm39) |
T910A |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,779,778 (GRCm39) |
H345R |
possibly damaging |
Het |
| Snx4 |
T |
A |
16: 33,106,428 (GRCm39) |
|
probably null |
Het |
| Tchh |
A |
G |
3: 93,351,439 (GRCm39) |
E293G |
unknown |
Het |
| Ulk2 |
T |
A |
11: 61,682,335 (GRCm39) |
T727S |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,729,706 (GRCm39) |
E756G |
probably damaging |
Het |
| Vmn2r68 |
G |
A |
7: 84,871,123 (GRCm39) |
A720V |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,645,839 (GRCm39) |
N56S |
possibly damaging |
Het |
| Washc5 |
A |
T |
15: 59,235,118 (GRCm39) |
Y263* |
probably null |
Het |
| Zfp119b |
A |
T |
17: 56,245,639 (GRCm39) |
C516S |
probably damaging |
Het |
|
| Other mutations in Adamts19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Adamts19
|
APN |
18 |
59,157,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00331:Adamts19
|
APN |
18 |
59,140,397 (GRCm39) |
splice site |
probably benign |
|
|
IGL00970:Adamts19
|
APN |
18 |
59,144,149 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01328:Adamts19
|
APN |
18 |
59,181,954 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01385:Adamts19
|
APN |
18 |
59,105,851 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01529:Adamts19
|
APN |
18 |
59,096,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01535:Adamts19
|
APN |
18 |
59,101,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01557:Adamts19
|
APN |
18 |
59,101,792 (GRCm39) |
splice site |
probably null |
|
|
IGL01705:Adamts19
|
APN |
18 |
59,166,038 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01803:Adamts19
|
APN |
18 |
59,085,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02116:Adamts19
|
APN |
18 |
58,970,571 (GRCm39) |
missense |
probably benign |
|
|
IGL02131:Adamts19
|
APN |
18 |
59,185,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02312:Adamts19
|
APN |
18 |
59,060,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Adamts19
|
APN |
18 |
59,103,005 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02866:Adamts19
|
APN |
18 |
59,181,914 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02964:Adamts19
|
APN |
18 |
59,122,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Adamts19
|
APN |
18 |
59,157,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03040:Adamts19
|
APN |
18 |
59,036,080 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0081:Adamts19
|
UTSW |
18 |
59,036,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0194:Adamts19
|
UTSW |
18 |
59,144,220 (GRCm39) |
missense |
probably null |
1.00 |
|
R0195:Adamts19
|
UTSW |
18 |
59,102,942 (GRCm39) |
splice site |
probably benign |
|
|
R0541:Adamts19
|
UTSW |
18 |
59,060,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0659:Adamts19
|
UTSW |
18 |
59,140,565 (GRCm39) |
splice site |
probably benign |
|
|
R0967:Adamts19
|
UTSW |
18 |
59,105,812 (GRCm39) |
nonsense |
probably null |
|
|
R1512:Adamts19
|
UTSW |
18 |
59,181,917 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1536:Adamts19
|
UTSW |
18 |
59,185,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1582:Adamts19
|
UTSW |
18 |
59,103,013 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1629:Adamts19
|
UTSW |
18 |
59,087,691 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1653:Adamts19
|
UTSW |
18 |
59,023,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1718:Adamts19
|
UTSW |
18 |
59,105,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Adamts19
|
UTSW |
18 |
59,165,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Adamts19
|
UTSW |
18 |
59,140,444 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1776:Adamts19
|
UTSW |
18 |
59,087,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Adamts19
|
UTSW |
18 |
59,166,017 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1958:Adamts19
|
UTSW |
18 |
59,103,078 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1994:Adamts19
|
UTSW |
18 |
59,105,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3730:Adamts19
|
UTSW |
18 |
59,033,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Adamts19
|
UTSW |
18 |
59,075,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Adamts19
|
UTSW |
18 |
58,970,848 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4822:Adamts19
|
UTSW |
18 |
59,023,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4891:Adamts19
|
UTSW |
18 |
59,166,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Adamts19
|
UTSW |
18 |
59,164,876 (GRCm39) |
nonsense |
probably null |
|
|
R5116:Adamts19
|
UTSW |
18 |
59,036,066 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5205:Adamts19
|
UTSW |
18 |
59,101,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Adamts19
|
UTSW |
18 |
59,185,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Adamts19
|
UTSW |
18 |
58,971,040 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5792:Adamts19
|
UTSW |
18 |
58,970,584 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6082:Adamts19
|
UTSW |
18 |
59,101,846 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6088:Adamts19
|
UTSW |
18 |
59,035,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Adamts19
|
UTSW |
18 |
58,970,712 (GRCm39) |
nonsense |
probably null |
|
|
R7251:Adamts19
|
UTSW |
18 |
58,970,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Adamts19
|
UTSW |
18 |
58,970,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Adamts19
|
UTSW |
18 |
59,144,094 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7991:Adamts19
|
UTSW |
18 |
59,185,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:Adamts19
|
UTSW |
18 |
59,140,559 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8297:Adamts19
|
UTSW |
18 |
58,970,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Adamts19
|
UTSW |
18 |
59,140,444 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8358:Adamts19
|
UTSW |
18 |
59,181,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:Adamts19
|
UTSW |
18 |
59,023,497 (GRCm39) |
nonsense |
probably null |
|
|
R9051:Adamts19
|
UTSW |
18 |
59,034,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Adamts19
|
UTSW |
18 |
59,103,013 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9423:Adamts19
|
UTSW |
18 |
59,023,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9610:Adamts19
|
UTSW |
18 |
59,023,399 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9611:Adamts19
|
UTSW |
18 |
59,023,399 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9686:Adamts19
|
UTSW |
18 |
58,971,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9697:Adamts19
|
UTSW |
18 |
59,101,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9747:Adamts19
|
UTSW |
18 |
59,023,487 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Adamts19
|
UTSW |
18 |
59,023,446 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1177:Adamts19
|
UTSW |
18 |
58,971,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTCTTCAATGGCAGAGCTAC -3'
(R):5'- GGTTCAGTGTGATTTGAATCAACAC -3'
Sequencing Primer
(F):5'- GTCTTCAATGGCAGAGCTACTAAGTG -3'
(R):5'- GCAAATCTCCTCCACCGATGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation