Incidental Mutation 'IGL01685:Adamtsl4'
| ID |
103938 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamtsl4
|
| Ensembl Gene |
ENSMUSG00000015850 |
| Gene Name |
ADAMTS-like 4 |
| Synonyms |
Tsrc1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01685
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95583511-95595228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95591905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 61
(V61A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015994]
[ENSMUST00000117782]
[ENSMUST00000148854]
|
| AlphaFold |
Q80T21 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015994
AA Change: V61A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: V61A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
TSP1
|
46 |
96 |
1.07e-4 |
SMART |
|
low complexity region
|
109 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
|
Pfam:ADAM_spacer1
|
449 |
564 |
3.9e-31 |
PFAM |
|
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
|
TSP1
|
632 |
688 |
6e0 |
SMART |
|
TSP1
|
690 |
748 |
5.64e-4 |
SMART |
|
TSP1
|
750 |
806 |
7.16e-6 |
SMART |
|
TSP1
|
808 |
871 |
1.95e-2 |
SMART |
|
TSP1
|
875 |
933 |
7.86e-3 |
SMART |
|
TSP1
|
935 |
988 |
3.34e-6 |
SMART |
|
Pfam:PLAC
|
995 |
1025 |
4.2e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117782
AA Change: V61A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: V61A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
TSP1
|
46 |
96 |
1.07e-4 |
SMART |
|
low complexity region
|
109 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
|
Pfam:ADAM_spacer1
|
449 |
564 |
3e-31 |
PFAM |
|
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
|
TSP1
|
632 |
688 |
6e0 |
SMART |
|
TSP1
|
690 |
748 |
5.64e-4 |
SMART |
|
TSP1
|
750 |
806 |
7.16e-6 |
SMART |
|
TSP1
|
808 |
871 |
1.95e-2 |
SMART |
|
TSP1
|
875 |
933 |
7.86e-3 |
SMART |
|
TSP1
|
935 |
988 |
3.34e-6 |
SMART |
|
Pfam:PLAC
|
994 |
1026 |
3e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124410
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148854
AA Change: V66A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120844
Gene: ENSMUSG00000015850
AA Change: V66A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Blast:TSP1
|
51 |
70 |
2e-6 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the ADAMTS superfamily of secreted proteins, which contain a metalloprotease domain at the N-terminus and a C-terminal ancillary domain. ADAMTS-like proteins lack protease activity and resemble the ancillary domain of ADAMTS proteins. ADAMTS-like proteins have been implicated in regulation of the extracellular matrix. The encoded protein contains 7 thrombospondin type 1 repeats, a conserved extracellular domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,301,327 (GRCm39) |
R66S |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,381,992 (GRCm39) |
Y195C |
probably damaging |
Het |
| Brd3 |
A |
G |
2: 27,349,500 (GRCm39) |
I351T |
probably damaging |
Het |
| Cd28 |
T |
A |
1: 60,802,307 (GRCm39) |
Y75* |
probably null |
Het |
| Cyfip2 |
A |
G |
11: 46,098,315 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
G |
10: 76,163,583 (GRCm39) |
E39A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,209,533 (GRCm39) |
V1200A |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,297 (GRCm39) |
L1216P |
probably damaging |
Het |
| Ecm2 |
A |
T |
13: 49,682,374 (GRCm39) |
I468F |
probably damaging |
Het |
| Gucy1b1 |
C |
A |
3: 81,942,592 (GRCm39) |
V517F |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,343,536 (GRCm39) |
Q9R |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,681,666 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,081,665 (GRCm39) |
K354* |
probably null |
Het |
| Ighv14-2 |
A |
T |
12: 113,958,121 (GRCm39) |
S107T |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,604,294 (GRCm39) |
K254T |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,586,937 (GRCm39) |
|
probably benign |
Het |
| Macroh2a2 |
C |
T |
10: 61,593,550 (GRCm39) |
S42N |
probably damaging |
Het |
| Mbd6 |
G |
T |
10: 127,120,601 (GRCm39) |
|
probably benign |
Het |
| Mob1a |
A |
T |
6: 83,309,485 (GRCm39) |
E32D |
probably benign |
Het |
| Mrps27 |
A |
T |
13: 99,551,428 (GRCm39) |
Q397L |
possibly damaging |
Het |
| Or8b3 |
T |
C |
9: 38,314,317 (GRCm39) |
I46T |
possibly damaging |
Het |
| Pcdhb18 |
A |
C |
18: 37,624,984 (GRCm39) |
K771N |
probably benign |
Het |
| Pcdhgc5 |
T |
G |
18: 37,954,808 (GRCm39) |
L694R |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,143,066 (GRCm39) |
D815E |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,414,362 (GRCm39) |
K88E |
probably damaging |
Het |
| Rint1 |
A |
T |
5: 23,992,832 (GRCm39) |
|
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,699 (GRCm39) |
T82A |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,091 (GRCm39) |
S558T |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,842,705 (GRCm39) |
S775P |
probably benign |
Het |
| Zic3 |
T |
C |
X: 57,077,088 (GRCm39) |
V183A |
probably benign |
Het |
|
| Other mutations in Adamtsl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Adamtsl4
|
APN |
3 |
95,584,843 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01707:Adamtsl4
|
APN |
3 |
95,591,301 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02105:Adamtsl4
|
APN |
3 |
95,587,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02545:Adamtsl4
|
APN |
3 |
95,590,684 (GRCm39) |
nonsense |
probably null |
|
|
IGL03089:Adamtsl4
|
APN |
3 |
95,584,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0099:Adamtsl4
|
UTSW |
3 |
95,591,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Adamtsl4
|
UTSW |
3 |
95,586,918 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0962:Adamtsl4
|
UTSW |
3 |
95,591,798 (GRCm39) |
nonsense |
probably null |
|
|
R1157:Adamtsl4
|
UTSW |
3 |
95,590,971 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1434:Adamtsl4
|
UTSW |
3 |
95,588,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Adamtsl4
|
UTSW |
3 |
95,589,166 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1579:Adamtsl4
|
UTSW |
3 |
95,592,807 (GRCm39) |
start gained |
probably benign |
|
|
R1703:Adamtsl4
|
UTSW |
3 |
95,584,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Adamtsl4
|
UTSW |
3 |
95,585,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2018:Adamtsl4
|
UTSW |
3 |
95,588,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Adamtsl4
|
UTSW |
3 |
95,588,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Adamtsl4
|
UTSW |
3 |
95,588,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Adamtsl4
|
UTSW |
3 |
95,584,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4063:Adamtsl4
|
UTSW |
3 |
95,584,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4124:Adamtsl4
|
UTSW |
3 |
95,588,982 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4128:Adamtsl4
|
UTSW |
3 |
95,588,982 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4432:Adamtsl4
|
UTSW |
3 |
95,589,069 (GRCm39) |
splice site |
probably null |
|
|
R4433:Adamtsl4
|
UTSW |
3 |
95,589,069 (GRCm39) |
splice site |
probably null |
|
|
R4643:Adamtsl4
|
UTSW |
3 |
95,591,929 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4694:Adamtsl4
|
UTSW |
3 |
95,587,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Adamtsl4
|
UTSW |
3 |
95,586,896 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4929:Adamtsl4
|
UTSW |
3 |
95,585,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Adamtsl4
|
UTSW |
3 |
95,588,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5212:Adamtsl4
|
UTSW |
3 |
95,584,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Adamtsl4
|
UTSW |
3 |
95,588,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5268:Adamtsl4
|
UTSW |
3 |
95,587,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5473:Adamtsl4
|
UTSW |
3 |
95,587,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5509:Adamtsl4
|
UTSW |
3 |
95,588,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5566:Adamtsl4
|
UTSW |
3 |
95,592,765 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5891:Adamtsl4
|
UTSW |
3 |
95,589,623 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5906:Adamtsl4
|
UTSW |
3 |
95,588,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Adamtsl4
|
UTSW |
3 |
95,589,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6530:Adamtsl4
|
UTSW |
3 |
95,588,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6861:Adamtsl4
|
UTSW |
3 |
95,588,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Adamtsl4
|
UTSW |
3 |
95,588,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8083:Adamtsl4
|
UTSW |
3 |
95,591,711 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8251:Adamtsl4
|
UTSW |
3 |
95,591,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Adamtsl4
|
UTSW |
3 |
95,592,276 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8723:Adamtsl4
|
UTSW |
3 |
95,584,426 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8724:Adamtsl4
|
UTSW |
3 |
95,584,426 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8725:Adamtsl4
|
UTSW |
3 |
95,584,426 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8786:Adamtsl4
|
UTSW |
3 |
95,592,784 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R9218:Adamtsl4
|
UTSW |
3 |
95,588,404 (GRCm39) |
nonsense |
probably null |
|
|
R9257:Adamtsl4
|
UTSW |
3 |
95,588,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Adamtsl4
|
UTSW |
3 |
95,589,090 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9749:Adamtsl4
|
UTSW |
3 |
95,591,457 (GRCm39) |
missense |
probably benign |
|
|
X0028:Adamtsl4
|
UTSW |
3 |
95,584,274 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation