Incidental Mutation 'R4088:Thsd4'
| ID |
317471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thsd4
|
| Ensembl Gene |
ENSMUSG00000032289 |
| Gene Name |
thrombospondin, type I, domain containing 4 |
| Synonyms |
B230114P05Rik, ADAMTSL6 |
| MMRRC Submission |
040981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R4088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
59874214-60429329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59904505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 204
(R204G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034829]
[ENSMUST00000098660]
[ENSMUST00000171654]
|
| AlphaFold |
Q3UTY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034829
AA Change: R204G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: R204G
| 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 benign
Transcript: ENSMUST00000098660
AA Change: R564G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: R564G
| 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 |
noncoding transcript
Transcript: ENSMUST00000126347
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171654
AA Change: R564G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: R564G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430110L20Rik |
T |
C |
1: 181,055,274 (GRCm39) |
|
noncoding transcript |
Het |
| Alox12b |
G |
T |
11: 69,049,211 (GRCm39) |
V87L |
probably benign |
Het |
| Arsk |
T |
G |
13: 76,246,533 (GRCm39) |
N32T |
probably benign |
Het |
| Baz1b |
T |
A |
5: 135,245,794 (GRCm39) |
N414K |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,287,929 (GRCm39) |
|
probably null |
Het |
| Cdc73 |
A |
G |
1: 143,484,252 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
| Cyp2b9 |
T |
C |
7: 25,872,881 (GRCm39) |
L8P |
probably damaging |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Dnajc6 |
T |
A |
4: 101,496,593 (GRCm39) |
V920E |
probably damaging |
Het |
| Eef2kmt |
A |
T |
16: 5,070,899 (GRCm39) |
I50N |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,206,290 (GRCm39) |
M40V |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gpr26 |
G |
T |
7: 131,568,805 (GRCm39) |
C50F |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,610,636 (GRCm39) |
L211Q |
unknown |
Het |
| Khdrbs2 |
A |
G |
1: 32,372,605 (GRCm39) |
E93G |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,004,904 (GRCm39) |
|
probably null |
Het |
| Kif15 |
T |
A |
9: 122,815,254 (GRCm39) |
L423I |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,492,711 (GRCm39) |
V834A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,637,365 (GRCm39) |
Y28* |
probably null |
Het |
| Map4k2 |
A |
T |
19: 6,403,186 (GRCm39) |
H763L |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,202,064 (GRCm39) |
F120S |
probably damaging |
Het |
| Ndufs3 |
C |
T |
2: 90,728,689 (GRCm39) |
|
probably benign |
Het |
| Nfasc |
A |
T |
1: 132,523,329 (GRCm39) |
V887E |
probably damaging |
Het |
| Npsr1 |
G |
A |
9: 24,225,065 (GRCm39) |
E358K |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,618,985 (GRCm39) |
L828P |
possibly damaging |
Het |
| Oprm1 |
T |
C |
10: 6,780,234 (GRCm39) |
Y299H |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,459,030 (GRCm39) |
L140H |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,125,651 (GRCm39) |
V777A |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,848 (GRCm39) |
E372G |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,960,627 (GRCm39) |
Y181C |
probably damaging |
Het |
| Sf1 |
G |
A |
19: 6,418,470 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
A |
G |
1: 131,695,587 (GRCm39) |
E765G |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,758,049 (GRCm39) |
L1073P |
probably damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,757 (GRCm39) |
D101G |
possibly damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,748,114 (GRCm39) |
Q4312* |
probably null |
Het |
| Ubtfl1 |
T |
C |
9: 18,321,264 (GRCm39) |
V264A |
probably damaging |
Het |
| Vmn1r58 |
C |
A |
7: 5,413,654 (GRCm39) |
W192L |
probably damaging |
Het |
| Washc5 |
C |
A |
15: 59,211,711 (GRCm39) |
C969F |
probably damaging |
Het |
| Zdhhc14 |
A |
G |
17: 5,777,131 (GRCm39) |
K296R |
probably benign |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zfp9 |
G |
T |
6: 118,441,730 (GRCm39) |
P311T |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTCCTACGCAGGCTTACC -3'
(R):5'- TTTCAAATGAACGCCTGCTGC -3'
Sequencing Primer
(F):5'- GGAGCATTCTGTTGTCCCCAG -3'
(R):5'- TGCTGCATCCTGTCCAGTGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation