Incidental Mutation 'R7856:Thsd4'
| ID |
607240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thsd4
|
| Ensembl Gene |
ENSMUSG00000032289 |
| Gene Name |
thrombospondin, type I, domain containing 4 |
| Synonyms |
B230114P05Rik, ADAMTSL6 |
| MMRRC Submission |
045909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R7856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
59874214-60429329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59910144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 508
(L508Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034829]
[ENSMUST00000098660]
[ENSMUST00000171654]
|
| AlphaFold |
Q3UTY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034829
AA Change: L148Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: L148Q
| 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 damaging
Transcript: ENSMUST00000098660
AA Change: L508Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: L508Q
| 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: L508Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: L508Q
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
T |
C |
17: 25,608,451 (GRCm39) |
T819A |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,572 (GRCm39) |
Y310* |
probably null |
Het |
| Ccdc63 |
A |
G |
5: 122,268,006 (GRCm39) |
W8R |
probably benign |
Het |
| Ces2g |
G |
A |
8: 105,693,014 (GRCm39) |
V351I |
not run |
Het |
| Ces3b |
A |
G |
8: 105,819,894 (GRCm39) |
*572W |
probably null |
Het |
| Dgka |
T |
C |
10: 128,572,533 (GRCm39) |
N40S |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,044,684 (GRCm39) |
R1835L |
possibly damaging |
Het |
| Dusp7 |
C |
A |
9: 106,246,067 (GRCm39) |
A24E |
unknown |
Het |
| Ep400 |
T |
A |
5: 110,814,450 (GRCm39) |
T2931S |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,395 (GRCm39) |
L365Q |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,748,342 (GRCm39) |
T249M |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,525,249 (GRCm39) |
D619G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,705,375 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mx1 |
A |
G |
16: 97,256,735 (GRCm39) |
I148T |
probably damaging |
Het |
| Or5m3 |
T |
A |
2: 85,838,640 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,885 (GRCm39) |
E68G |
probably damaging |
Het |
| Orc3 |
T |
C |
4: 34,585,647 (GRCm39) |
I416V |
probably benign |
Het |
| Plcxd3 |
A |
T |
15: 4,546,581 (GRCm39) |
Y195F |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,025 (GRCm39) |
I963N |
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,278,068 (GRCm39) |
D69G |
possibly damaging |
Het |
| Rars1 |
A |
G |
11: 35,699,412 (GRCm39) |
V627A |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,472 (GRCm39) |
S973P |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,040,698 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,661,751 (GRCm39) |
H92Y |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,146 (GRCm39) |
D1631G |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,774,728 (GRCm39) |
W746R |
unknown |
Het |
| Tlx1 |
C |
T |
19: 45,144,427 (GRCm39) |
Q292* |
probably null |
Het |
| Ttc34 |
T |
C |
4: 154,945,743 (GRCm39) |
V259A |
probably benign |
Het |
| Xrn2 |
T |
G |
2: 146,910,393 (GRCm39) |
|
probably null |
Het |
| Yif1b |
A |
G |
7: 28,944,045 (GRCm39) |
D137G |
possibly damaging |
Het |
| Zfp850 |
A |
G |
7: 27,689,899 (GRCm39) |
I103T |
probably benign |
Het |
| Zfp937 |
T |
C |
2: 150,081,467 (GRCm39) |
V499A |
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 |
|
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 |
|
|
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'- GGTTTCTGTGGGCCTCATAC -3'
(R):5'- ACCTGAGCTTACCAGAGAAACTG -3'
Sequencing Primer
(F):5'- GCCTCATACACTCAGGGGTAAATG -3'
(R):5'- AGAAACTGGTTCTCTTGTCTCCACAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation