Incidental Mutation 'R5581:Thsd4'
| ID |
438468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thsd4
|
| Ensembl Gene |
ENSMUSG00000032289 |
| Gene Name |
thrombospondin, type I, domain containing 4 |
| Synonyms |
B230114P05Rik, ADAMTSL6 |
| MMRRC Submission |
043135-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
59874214-60429329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 59879741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 639
(A639S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034829]
[ENSMUST00000098660]
[ENSMUST00000171654]
|
| AlphaFold |
Q3UTY6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034829
AA Change: A639S
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: A639S
| 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 |
possibly damaging
Transcript: ENSMUST00000098660
AA Change: A999S
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: A999S
| 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 |
possibly damaging
Transcript: ENSMUST00000171654
AA Change: A999S
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: A999S
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appbp2 |
G |
C |
11: 85,100,921 (GRCm39) |
R173G |
possibly damaging |
Het |
| Bcl11a |
A |
G |
11: 24,113,932 (GRCm39) |
K425R |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,315,106 (GRCm39) |
M911T |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,415,377 (GRCm39) |
A1205V |
probably benign |
Het |
| Chfr |
T |
C |
5: 110,301,148 (GRCm39) |
|
probably null |
Het |
| Dixdc1 |
A |
G |
9: 50,580,780 (GRCm39) |
L638P |
probably damaging |
Het |
| Filip1 |
C |
T |
9: 79,727,042 (GRCm39) |
V526M |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,828,472 (GRCm39) |
D6756E |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Lvrn |
A |
G |
18: 47,023,932 (GRCm39) |
T760A |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,216,411 (GRCm39) |
M1256L |
probably benign |
Het |
| Ndufb11b |
T |
C |
15: 81,865,037 (GRCm39) |
S93P |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
| Pdia5 |
T |
C |
16: 35,269,812 (GRCm39) |
R166G |
probably benign |
Het |
| Plcz1 |
A |
G |
6: 139,968,851 (GRCm39) |
Y196H |
probably damaging |
Het |
| Ptpn12 |
T |
A |
5: 21,220,724 (GRCm39) |
E135D |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,743,294 (GRCm39) |
D191G |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,605,102 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
G |
12: 75,991,859 (GRCm39) |
D1941E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAACATCCTGGCTACCATG -3'
(R):5'- TACGCTGGTCTCTGCATGTG -3'
Sequencing Primer
(F):5'- GCTACCATGTGGCTTTATGAAG -3'
(R):5'- GGTCTCTGCATGTGTTCACAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation