Incidental Mutation 'IGL02978:Thsd4'
| ID |
406468 |
| 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 # |
IGL02978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
59874214-60429329 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 59964129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034829]
[ENSMUST00000098660]
[ENSMUST00000171654]
|
| AlphaFold |
Q3UTY6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034829
|
| SMART Domains |
Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ADAM_spacer1
|
52 |
168 |
7.8e-40 |
PFAM |
|
low complexity region
|
189 |
205 |
N/A |
INTRINSIC |
|
TSP1
|
261 |
317 |
1.51e-1 |
SMART |
|
TSP1
|
319 |
377 |
8.11e-5 |
SMART |
|
TSP1
|
379 |
434 |
7.92e-8 |
SMART |
|
TSP1
|
436 |
491 |
1.6e-3 |
SMART |
|
TSP1
|
495 |
553 |
4.82e-2 |
SMART |
|
TSP1
|
556 |
608 |
1.03e-6 |
SMART |
|
Pfam:PLAC
|
614 |
646 |
2.5e-14 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098660
|
| SMART Domains |
Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
| 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 null
Transcript: ENSMUST00000171654
|
| SMART Domains |
Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,073,875 (GRCm39) |
F160I |
probably benign |
Het |
| Agt |
T |
C |
8: 125,284,502 (GRCm39) |
D412G |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,254,324 (GRCm39) |
Q344H |
probably benign |
Het |
| Ate1 |
C |
A |
7: 129,996,470 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,744 (GRCm39) |
H321R |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,277,075 (GRCm39) |
H694N |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,211 (GRCm39) |
N157S |
unknown |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,208 (GRCm39) |
K331I |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,569,082 (GRCm39) |
D749G |
probably damaging |
Het |
| Gal3st4 |
C |
A |
5: 138,263,931 (GRCm39) |
W351L |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,352,517 (GRCm39) |
L136H |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,132,471 (GRCm39) |
E86G |
probably damaging |
Het |
| Itpripl1 |
A |
T |
2: 126,982,932 (GRCm39) |
F397I |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,076 (GRCm39) |
Q1705* |
probably null |
Het |
| Mfge8 |
A |
T |
7: 78,791,458 (GRCm39) |
L248Q |
probably damaging |
Het |
| Mfge8 |
T |
C |
7: 78,791,476 (GRCm39) |
E279G |
possibly damaging |
Het |
| Obox3 |
T |
C |
7: 15,360,178 (GRCm39) |
T164A |
probably benign |
Het |
| Plat |
T |
C |
8: 23,266,835 (GRCm39) |
C276R |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,480,674 (GRCm39) |
R594C |
probably benign |
Het |
| Shroom4 |
T |
A |
X: 6,497,244 (GRCm39) |
D801E |
probably benign |
Het |
| Vmn2r77 |
C |
T |
7: 86,460,555 (GRCm39) |
T627I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,298 (GRCm39) |
T851S |
probably benign |
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 |
|
|
IGL02874:Thsd4
|
APN |
9 |
60,160,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation