Incidental Mutation 'IGL02874:Thsd4'
ID |
362636 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Thsd4
|
Ensembl Gene |
ENSMUSG00000032289 |
Gene Name |
thrombospondin, type I, domain containing 4 |
Synonyms |
B230114P05Rik, ADAMTSL6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
IGL02874
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
59874214-60429329 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 60160013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 358
(V358I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098660]
[ENSMUST00000171654]
|
AlphaFold |
Q3UTY6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098660
AA Change: V358I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096257 Gene: ENSMUSG00000032289 AA Change: V358I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
TSP1
|
57 |
100 |
7.9e-2 |
SMART |
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
Pfam:ADAM_spacer1
|
412 |
528 |
1.5e-39 |
PFAM |
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
TSP1
|
621 |
677 |
1.51e-1 |
SMART |
TSP1
|
679 |
737 |
8.11e-5 |
SMART |
TSP1
|
739 |
794 |
7.92e-8 |
SMART |
TSP1
|
796 |
851 |
1.6e-3 |
SMART |
TSP1
|
855 |
913 |
4.82e-2 |
SMART |
TSP1
|
916 |
968 |
1.03e-6 |
SMART |
Pfam:PLAC
|
974 |
1006 |
4.2e-14 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171654
AA Change: V358I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131418 Gene: ENSMUSG00000032289 AA Change: V358I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
TSP1
|
57 |
100 |
7.9e-2 |
SMART |
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
Pfam:ADAM_spacer1
|
412 |
528 |
5.4e-40 |
PFAM |
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
TSP1
|
621 |
677 |
1.51e-1 |
SMART |
TSP1
|
679 |
737 |
8.11e-5 |
SMART |
TSP1
|
739 |
794 |
7.92e-8 |
SMART |
TSP1
|
796 |
851 |
1.6e-3 |
SMART |
TSP1
|
855 |
913 |
4.82e-2 |
SMART |
TSP1
|
916 |
968 |
1.03e-6 |
SMART |
Pfam:PLAC
|
975 |
1005 |
1.3e-12 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp8a2 |
A |
G |
14: 60,039,701 (GRCm39) |
Y876H |
probably damaging |
Het |
Cfap65 |
G |
A |
1: 74,950,267 (GRCm39) |
Q1161* |
probably null |
Het |
Chrd |
C |
T |
16: 20,553,946 (GRCm39) |
T282I |
probably damaging |
Het |
Clasp1 |
T |
C |
1: 118,479,773 (GRCm39) |
S749P |
possibly damaging |
Het |
Clec4a3 |
T |
A |
6: 122,944,519 (GRCm39) |
N188K |
probably benign |
Het |
Dmpk |
A |
G |
7: 18,820,926 (GRCm39) |
M181V |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,644,973 (GRCm39) |
M1021K |
possibly damaging |
Het |
Exoc5 |
A |
T |
14: 49,288,903 (GRCm39) |
N48K |
probably benign |
Het |
Golga1 |
A |
G |
2: 38,929,104 (GRCm39) |
L338P |
probably damaging |
Het |
Hdc |
T |
A |
2: 126,443,596 (GRCm39) |
T334S |
probably benign |
Het |
Idh2 |
A |
G |
7: 79,747,621 (GRCm39) |
S300P |
probably damaging |
Het |
Igkv4-78 |
T |
C |
6: 69,037,190 (GRCm39) |
I7V |
probably benign |
Het |
Impdh1 |
A |
T |
6: 29,203,155 (GRCm39) |
M389K |
probably damaging |
Het |
Kcnd2 |
T |
A |
6: 21,216,922 (GRCm39) |
C209S |
probably damaging |
Het |
Or11g25 |
G |
T |
14: 50,723,686 (GRCm39) |
C257F |
possibly damaging |
Het |
Or4q3 |
A |
T |
14: 50,583,583 (GRCm39) |
H105Q |
probably damaging |
Het |
Or56b2 |
C |
A |
7: 104,337,230 (GRCm39) |
Q3K |
probably benign |
Het |
Ovol1 |
T |
C |
19: 5,601,209 (GRCm39) |
K194R |
probably damaging |
Het |
Pcdh17 |
A |
T |
14: 84,685,680 (GRCm39) |
I716F |
possibly damaging |
Het |
Pck1 |
T |
C |
2: 172,997,042 (GRCm39) |
I228T |
probably damaging |
Het |
Pla2g2a |
T |
C |
4: 138,562,159 (GRCm39) |
F132L |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,426,967 (GRCm39) |
V1086A |
probably damaging |
Het |
Rasd2 |
T |
C |
8: 75,945,327 (GRCm39) |
I52T |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,809,806 (GRCm39) |
Y1185H |
probably damaging |
Het |
Sema6c |
T |
G |
3: 95,077,688 (GRCm39) |
V441G |
probably damaging |
Het |
Slc9a4 |
A |
T |
1: 40,623,198 (GRCm39) |
M146L |
probably benign |
Het |
Ttbk1 |
T |
C |
17: 46,781,151 (GRCm39) |
E474G |
probably benign |
Het |
Ttbk2 |
T |
A |
2: 120,576,193 (GRCm39) |
D928V |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,641,522 (GRCm39) |
G11779S |
probably damaging |
Het |
Wfdc6b |
T |
C |
2: 164,459,368 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Thsd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02206:Thsd4
|
APN |
9 |
60,301,398 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02418:Thsd4
|
APN |
9 |
60,335,598 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02491:Thsd4
|
APN |
9 |
59,907,301 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02754:Thsd4
|
APN |
9 |
59,896,380 (GRCm39) |
splice site |
probably benign |
|
IGL02978:Thsd4
|
APN |
9 |
59,964,129 (GRCm39) |
splice site |
probably null |
|
IGL03139:Thsd4
|
APN |
9 |
59,904,456 (GRCm39) |
missense |
probably benign |
0.01 |
R0266:Thsd4
|
UTSW |
9 |
59,904,417 (GRCm39) |
missense |
probably benign |
0.07 |
R0482:Thsd4
|
UTSW |
9 |
59,910,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R1188:Thsd4
|
UTSW |
9 |
60,301,689 (GRCm39) |
missense |
probably benign |
0.12 |
R1447:Thsd4
|
UTSW |
9 |
59,904,496 (GRCm39) |
missense |
probably benign |
|
R1572:Thsd4
|
UTSW |
9 |
60,301,836 (GRCm39) |
splice site |
probably benign |
|
R1812:Thsd4
|
UTSW |
9 |
59,964,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R2349:Thsd4
|
UTSW |
9 |
59,879,798 (GRCm39) |
missense |
probably benign |
0.05 |
R3236:Thsd4
|
UTSW |
9 |
60,301,670 (GRCm39) |
missense |
probably benign |
|
R4088:Thsd4
|
UTSW |
9 |
59,904,505 (GRCm39) |
missense |
probably benign |
0.02 |
R4884:Thsd4
|
UTSW |
9 |
59,895,320 (GRCm39) |
missense |
probably benign |
0.43 |
R4886:Thsd4
|
UTSW |
9 |
59,896,313 (GRCm39) |
missense |
probably benign |
0.00 |
R5066:Thsd4
|
UTSW |
9 |
59,883,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Thsd4
|
UTSW |
9 |
59,964,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R5441:Thsd4
|
UTSW |
9 |
59,887,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R5457:Thsd4
|
UTSW |
9 |
59,887,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R5574:Thsd4
|
UTSW |
9 |
59,879,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R5581:Thsd4
|
UTSW |
9 |
59,879,741 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5903:Thsd4
|
UTSW |
9 |
60,301,389 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6220:Thsd4
|
UTSW |
9 |
59,890,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R6728:Thsd4
|
UTSW |
9 |
59,904,480 (GRCm39) |
missense |
probably benign |
|
R7102:Thsd4
|
UTSW |
9 |
59,883,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7316:Thsd4
|
UTSW |
9 |
59,894,642 (GRCm39) |
missense |
probably benign |
0.00 |
R7403:Thsd4
|
UTSW |
9 |
59,964,170 (GRCm39) |
missense |
probably damaging |
0.99 |
R7638:Thsd4
|
UTSW |
9 |
60,301,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R7671:Thsd4
|
UTSW |
9 |
60,335,457 (GRCm39) |
missense |
probably benign |
|
R7856:Thsd4
|
UTSW |
9 |
59,910,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R8671:Thsd4
|
UTSW |
9 |
60,301,728 (GRCm39) |
missense |
probably damaging |
0.98 |
R9104:Thsd4
|
UTSW |
9 |
59,964,179 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9182:Thsd4
|
UTSW |
9 |
59,894,649 (GRCm39) |
missense |
probably benign |
0.00 |
R9252:Thsd4
|
UTSW |
9 |
59,964,230 (GRCm39) |
missense |
probably benign |
0.04 |
R9663:Thsd4
|
UTSW |
9 |
59,890,026 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Thsd4
|
UTSW |
9 |
59,895,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-12-18 |