Incidental Mutation 'R1399:Adamtsl5'
| ID |
160290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl5
|
| Ensembl Gene |
ENSMUSG00000043822 |
| Gene Name |
ADAMTS-like 5 |
| Synonyms |
2010109H09Rik, Thsd6 |
| MMRRC Submission |
039461-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1399 (G1)
|
| Quality Score |
90 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80175655-80184246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80177042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 469
(S469G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095446]
[ENSMUST00000105352]
[ENSMUST00000105354]
[ENSMUST00000105355]
[ENSMUST00000105357]
[ENSMUST00000105358]
[ENSMUST00000186864]
|
| AlphaFold |
D3Z689 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095446
AA Change: S469G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822
AA Change: S469G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
|
TSP1
|
49 |
98 |
2.51e-10 |
SMART |
|
Pfam:ADAM_spacer1
|
203 |
312 |
1.1e-27 |
PFAM |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
Pfam:NTR
|
378 |
481 |
2.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105352
|
| SMART Domains |
Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
|
TSP1
|
49 |
98 |
2.51e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105354
|
| SMART Domains |
Protein: ENSMUSP00000100991
Gene: ENSMUSG00000035504
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TB2_DP1_HVA22
|
50 |
144 |
5e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105355
|
| SMART Domains |
Protein: ENSMUSP00000100992
Gene: ENSMUSG00000035504
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TB2_DP1_HVA22
|
50 |
144 |
3.4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105357
|
| SMART Domains |
Protein: ENSMUSP00000100994
Gene: ENSMUSG00000035504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
428 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
434 |
465 |
1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105358
|
| SMART Domains |
Protein: ENSMUSP00000100995
Gene: ENSMUSG00000035504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
455 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
461 |
492 |
8e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138705
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137571
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186864
|
| SMART Domains |
Protein: ENSMUSP00000140840
Gene: ENSMUSG00000035504
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TB2_DP1_HVA22
|
50 |
144 |
5e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc168 |
G |
A |
1: 44,100,471 (GRCm39) |
T209I |
possibly damaging |
Het |
| Cep170 |
C |
T |
1: 176,585,969 (GRCm39) |
E608K |
probably damaging |
Het |
| Csnk1g3 |
T |
C |
18: 54,028,982 (GRCm39) |
V45A |
probably damaging |
Het |
| Eng |
C |
A |
2: 32,563,334 (GRCm39) |
Q297K |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| G6pd2 |
G |
A |
5: 61,967,361 (GRCm39) |
D379N |
probably benign |
Het |
| Mrc1 |
C |
T |
2: 14,284,736 (GRCm39) |
T575M |
probably damaging |
Het |
| Noct |
C |
T |
3: 51,157,897 (GRCm39) |
|
probably null |
Het |
| Phka1 |
A |
G |
X: 101,660,964 (GRCm39) |
S226P |
probably damaging |
Het |
| Pias4 |
T |
C |
10: 80,991,509 (GRCm39) |
Y346C |
probably damaging |
Het |
| Ptger4 |
C |
T |
15: 5,264,412 (GRCm39) |
E415K |
possibly damaging |
Het |
| Pwwp4b |
A |
G |
X: 72,182,235 (GRCm39) |
L287P |
probably damaging |
Het |
| Rb1cc1 |
G |
A |
1: 6,320,042 (GRCm39) |
V1154I |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
| Vmn2r121 |
A |
C |
X: 123,039,545 (GRCm39) |
V541G |
possibly damaging |
Het |
| Zfp92 |
A |
T |
X: 72,466,401 (GRCm39) |
T465S |
probably benign |
Het |
| Zfp92 |
A |
G |
X: 72,465,736 (GRCm39) |
H243R |
probably damaging |
Het |
|
| Other mutations in Adamtsl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Adamtsl5
|
APN |
10 |
80,180,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:Adamtsl5
|
APN |
10 |
80,180,757 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02352:Adamtsl5
|
APN |
10 |
80,179,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02359:Adamtsl5
|
APN |
10 |
80,179,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02380:Adamtsl5
|
APN |
10 |
80,177,612 (GRCm39) |
missense |
probably benign |
|
|
IGL02898:Adamtsl5
|
APN |
10 |
80,178,065 (GRCm39) |
unclassified |
probably benign |
|
|
R0564:Adamtsl5
|
UTSW |
10 |
80,180,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1652:Adamtsl5
|
UTSW |
10 |
80,178,011 (GRCm39) |
missense |
probably benign |
|
|
R3433:Adamtsl5
|
UTSW |
10 |
80,178,725 (GRCm39) |
missense |
probably benign |
|
|
R4157:Adamtsl5
|
UTSW |
10 |
80,181,156 (GRCm39) |
missense |
probably null |
1.00 |
|
R4395:Adamtsl5
|
UTSW |
10 |
80,180,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5238:Adamtsl5
|
UTSW |
10 |
80,181,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5309:Adamtsl5
|
UTSW |
10 |
80,180,982 (GRCm39) |
intron |
probably benign |
|
|
R5608:Adamtsl5
|
UTSW |
10 |
80,178,781 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6468:Adamtsl5
|
UTSW |
10 |
80,177,747 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6885:Adamtsl5
|
UTSW |
10 |
80,179,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7426:Adamtsl5
|
UTSW |
10 |
80,180,693 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7843:Adamtsl5
|
UTSW |
10 |
80,178,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7900:Adamtsl5
|
UTSW |
10 |
80,177,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7988:Adamtsl5
|
UTSW |
10 |
80,181,372 (GRCm39) |
missense |
probably benign |
|
|
R8431:Adamtsl5
|
UTSW |
10 |
80,181,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9653:Adamtsl5
|
UTSW |
10 |
80,180,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Adamtsl5
|
UTSW |
10 |
80,180,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTTGCTGAGCGACTGTAGGAC -3'
(R):5'- CGAGAATATGTATGGGCACCAGGC -3'
Sequencing Primer
(F):5'- agagacagaggcaggtgg -3'
(R):5'- GCACCAGGCCACTGTCC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation