Incidental Mutation 'R5238:Adamtsl5'
| ID |
400519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl5
|
| Ensembl Gene |
ENSMUSG00000043822 |
| Gene Name |
ADAMTS-like 5 |
| Synonyms |
2010109H09Rik, Thsd6 |
| MMRRC Submission |
042809-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5238 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80175655-80184246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80181192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 63
(G63D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095446]
[ENSMUST00000105352]
|
| AlphaFold |
D3Z689 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095446
AA Change: G63D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822
AA Change: G63D
| 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 damaging
Transcript: ENSMUST00000105352
AA Change: G63D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822
AA Change: G63D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
|
TSP1
|
49 |
98 |
2.51e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138705
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
T |
A |
12: 70,210,142 (GRCm39) |
|
probably null |
Het |
| Armc9 |
T |
A |
1: 86,127,569 (GRCm39) |
M68K |
probably benign |
Het |
| Atad2 |
A |
C |
15: 57,971,733 (GRCm39) |
H381Q |
possibly damaging |
Het |
| Bclaf1 |
T |
G |
10: 20,208,130 (GRCm39) |
|
probably benign |
Het |
| Ccdc188 |
A |
G |
16: 18,037,038 (GRCm39) |
E238G |
probably damaging |
Het |
| Cldn19 |
G |
T |
4: 119,112,930 (GRCm39) |
C54F |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,640,379 (GRCm39) |
V512A |
probably damaging |
Het |
| Cyfip1 |
G |
T |
7: 55,541,779 (GRCm39) |
A355S |
probably benign |
Het |
| Dffa |
T |
G |
4: 149,188,760 (GRCm39) |
L18R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,009,891 (GRCm39) |
E3761K |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,210 (GRCm39) |
T59A |
possibly damaging |
Het |
| Eed |
T |
C |
7: 89,626,173 (GRCm39) |
S67G |
probably benign |
Het |
| Fam181a |
C |
T |
12: 103,282,392 (GRCm39) |
A99V |
probably benign |
Het |
| Gm12185 |
G |
A |
11: 48,799,044 (GRCm39) |
T483I |
possibly damaging |
Het |
| Htr3b |
A |
T |
9: 48,848,542 (GRCm39) |
C234* |
probably null |
Het |
| Kidins220 |
C |
A |
12: 25,053,009 (GRCm39) |
T433K |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,943,502 (GRCm39) |
Y186H |
probably damaging |
Het |
| Mcm9 |
G |
T |
10: 53,506,093 (GRCm39) |
S60R |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,784,773 (GRCm39) |
C144S |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,955,461 (GRCm39) |
C364R |
probably damaging |
Het |
| Nptx2 |
T |
C |
5: 144,493,041 (GRCm39) |
I376T |
probably damaging |
Het |
| Or2a14 |
T |
C |
6: 43,130,961 (GRCm39) |
S241P |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,604,834 (GRCm39) |
C2191S |
probably damaging |
Het |
| Plxdc2 |
T |
A |
2: 16,655,026 (GRCm39) |
F208L |
probably damaging |
Het |
| Robo3 |
A |
C |
9: 37,328,175 (GRCm39) |
Y1339D |
probably damaging |
Het |
| Rsph9 |
G |
T |
17: 46,446,008 (GRCm39) |
Y42* |
probably null |
Het |
| Slc39a1 |
T |
A |
3: 90,156,702 (GRCm39) |
L86Q |
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,904,214 (GRCm39) |
D392G |
probably damaging |
Het |
| Tiprl |
A |
G |
1: 165,043,337 (GRCm39) |
V263A |
probably benign |
Het |
| Tmub2 |
A |
G |
11: 102,175,820 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,918,702 (GRCm39) |
F681I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uba3 |
A |
T |
6: 97,178,896 (GRCm39) |
C68* |
probably null |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,799 (GRCm39) |
M137L |
probably benign |
Het |
| Vmn1r50 |
C |
T |
6: 90,084,465 (GRCm39) |
A70V |
possibly damaging |
Het |
| Wwc1 |
T |
C |
11: 35,766,723 (GRCm39) |
K511E |
probably benign |
Het |
| Zfp600 |
T |
C |
4: 146,131,741 (GRCm39) |
|
probably null |
Het |
| Zng1 |
G |
T |
19: 24,897,994 (GRCm39) |
T382K |
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 |
|
R1399:Adamtsl5
|
UTSW |
10 |
80,177,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTCTGAGTGTAGCAGGAACC -3'
(R):5'- TTGCTGTGGACTCTCCTGAG -3'
Sequencing Primer
(F):5'- GAGTGTAGCAGGAACCCCCAC -3'
(R):5'- ACTCTCCTGAGCTGTGATTTGAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation