Incidental Mutation 'R5903:Thsd4'
| ID |
456451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thsd4
|
| Ensembl Gene |
ENSMUSG00000032289 |
| Gene Name |
thrombospondin, type I, domain containing 4 |
| Synonyms |
ADAMTSL6, B230114P05Rik |
| MMRRC Submission |
044101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R5903 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
59966931-60522046 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60394106 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 302
(N302I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098660]
[ENSMUST00000171654]
|
| AlphaFold |
Q3UTY6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098660
AA Change: N302I
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: N302I
| 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: N302I
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: N302I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216899
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
A |
G |
5: 65,988,318 (GRCm38) |
V150A |
unknown |
Het |
| Abraxas1 |
T |
C |
5: 100,817,958 (GRCm38) |
|
probably null |
Het |
| Actl7a |
G |
T |
4: 56,743,827 (GRCm38) |
R118L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,639,359 (GRCm38) |
D1449G |
possibly damaging |
Het |
| Atg7 |
G |
A |
6: 114,706,293 (GRCm38) |
W439* |
probably null |
Het |
| Atp6v0a2 |
T |
A |
5: 124,712,279 (GRCm38) |
I370N |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,807,760 (GRCm38) |
D347G |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,959,889 (GRCm38) |
C660Y |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,930,542 (GRCm38) |
Y1390C |
probably damaging |
Het |
| Cdcp1 |
G |
A |
9: 123,173,772 (GRCm38) |
Q745* |
probably null |
Het |
| Cep97 |
G |
A |
16: 55,919,526 (GRCm38) |
S185L |
probably damaging |
Het |
| Clec4d |
A |
G |
6: 123,267,061 (GRCm38) |
H43R |
probably damaging |
Het |
| Cntn3 |
T |
A |
6: 102,242,133 (GRCm38) |
M509L |
probably benign |
Het |
| Cntrob |
A |
C |
11: 69,309,375 (GRCm38) |
S564R |
possibly damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,507,277 (GRCm38) |
N37I |
possibly damaging |
Het |
| Edc4 |
A |
G |
8: 105,890,587 (GRCm38) |
T1029A |
probably benign |
Het |
| Fam160b2 |
A |
T |
14: 70,591,681 (GRCm38) |
V64E |
probably damaging |
Het |
| Fmnl1 |
G |
T |
11: 103,171,444 (GRCm38) |
|
probably null |
Het |
| Fzd6 |
T |
A |
15: 39,007,388 (GRCm38) |
M1K |
probably null |
Het |
| Gle1 |
C |
A |
2: 29,940,281 (GRCm38) |
T283N |
probably benign |
Het |
| Hsd17b14 |
T |
C |
7: 45,565,962 (GRCm38) |
V161A |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,504,723 (GRCm38) |
S218P |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 110,050,813 (GRCm38) |
C736S |
probably damaging |
Het |
| Itpkb |
G |
T |
1: 180,413,975 (GRCm38) |
V737L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,489,797 (GRCm38) |
|
probably benign |
Het |
| Kcnh8 |
G |
T |
17: 52,803,336 (GRCm38) |
V192L |
possibly damaging |
Het |
| Kctd10 |
G |
A |
5: 114,380,462 (GRCm38) |
|
probably benign |
Het |
| Kdm3a |
C |
A |
6: 71,632,250 (GRCm38) |
|
probably benign |
Het |
| Kif5a |
T |
A |
10: 127,230,578 (GRCm38) |
M990L |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,022,688 (GRCm38) |
S202P |
probably damaging |
Het |
| Krt81 |
T |
G |
15: 101,460,202 (GRCm38) |
Q390P |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 126,008,478 (GRCm38) |
S604P |
probably damaging |
Het |
| Ms4a1 |
A |
T |
19: 11,258,248 (GRCm38) |
V48D |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,136,619 (GRCm38) |
P688L |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 120,870,977 (GRCm38) |
V250A |
probably damaging |
Het |
| Olfr618 |
G |
T |
7: 103,597,921 (GRCm38) |
G202* |
probably null |
Het |
| Olfr95 |
A |
T |
17: 37,211,021 (GRCm38) |
Y277* |
probably null |
Het |
| P2rx3 |
T |
C |
2: 85,000,727 (GRCm38) |
E265G |
possibly damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,345,286 (GRCm38) |
I101T |
possibly damaging |
Het |
| Psme4 |
A |
T |
11: 30,841,589 (GRCm38) |
N1148I |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,421,369 (GRCm38) |
L874P |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,751,239 (GRCm38) |
Y508C |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,970,133 (GRCm38) |
|
probably benign |
Het |
| Slc9b1 |
C |
T |
3: 135,392,894 (GRCm38) |
|
probably benign |
Het |
| Stmn3 |
T |
C |
2: 181,308,780 (GRCm38) |
K78E |
possibly damaging |
Het |
| Trdv5 |
A |
T |
14: 54,148,785 (GRCm38) |
H74Q |
probably benign |
Het |
| Tubb4b |
C |
T |
2: 25,223,981 (GRCm38) |
R77H |
probably benign |
Het |
| Ugt1a6a |
C |
T |
1: 88,215,123 (GRCm38) |
P113L |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 54,999,690 (GRCm38) |
C438S |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,442,134 (GRCm38) |
C1946F |
unknown |
Het |
|
| Other mutations in Thsd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02206:Thsd4
|
APN |
9 |
60,394,115 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL02418:Thsd4
|
APN |
9 |
60,428,315 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02491:Thsd4
|
APN |
9 |
60,000,018 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02754:Thsd4
|
APN |
9 |
59,989,097 (GRCm38) |
splice site |
probably benign |
|
|
IGL02874:Thsd4
|
APN |
9 |
60,252,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02978:Thsd4
|
APN |
9 |
60,056,846 (GRCm38) |
splice site |
probably null |
|
|
IGL03139:Thsd4
|
APN |
9 |
59,997,173 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0266:Thsd4
|
UTSW |
9 |
59,997,134 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0482:Thsd4
|
UTSW |
9 |
60,002,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1188:Thsd4
|
UTSW |
9 |
60,394,406 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1447:Thsd4
|
UTSW |
9 |
59,997,213 (GRCm38) |
missense |
probably benign |
|
|
R1572:Thsd4
|
UTSW |
9 |
60,394,553 (GRCm38) |
splice site |
probably benign |
|
|
R1812:Thsd4
|
UTSW |
9 |
60,056,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2349:Thsd4
|
UTSW |
9 |
59,972,515 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3236:Thsd4
|
UTSW |
9 |
60,394,387 (GRCm38) |
missense |
probably benign |
|
|
R4088:Thsd4
|
UTSW |
9 |
59,997,222 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4884:Thsd4
|
UTSW |
9 |
59,988,037 (GRCm38) |
missense |
probably benign |
0.43 |
|
R4886:Thsd4
|
UTSW |
9 |
59,989,030 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5066:Thsd4
|
UTSW |
9 |
59,976,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5223:Thsd4
|
UTSW |
9 |
60,057,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5441:Thsd4
|
UTSW |
9 |
59,979,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5457:Thsd4
|
UTSW |
9 |
59,979,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5574:Thsd4
|
UTSW |
9 |
59,972,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5581:Thsd4
|
UTSW |
9 |
59,972,458 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6220:Thsd4
|
UTSW |
9 |
59,982,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6728:Thsd4
|
UTSW |
9 |
59,997,197 (GRCm38) |
missense |
probably benign |
|
|
R7102:Thsd4
|
UTSW |
9 |
59,976,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7316:Thsd4
|
UTSW |
9 |
59,987,359 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7403:Thsd4
|
UTSW |
9 |
60,056,887 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7638:Thsd4
|
UTSW |
9 |
60,394,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7671:Thsd4
|
UTSW |
9 |
60,428,174 (GRCm38) |
missense |
probably benign |
|
|
R7856:Thsd4
|
UTSW |
9 |
60,002,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8671:Thsd4
|
UTSW |
9 |
60,394,445 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9104:Thsd4
|
UTSW |
9 |
60,056,896 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9182:Thsd4
|
UTSW |
9 |
59,987,366 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9252:Thsd4
|
UTSW |
9 |
60,056,947 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9663:Thsd4
|
UTSW |
9 |
59,982,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Thsd4
|
UTSW |
9 |
59,988,094 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCGCTGCCACACAATTG -3'
(R):5'- ATCTACCAGCTGCCCTTGAC -3'
Sequencing Primer
(F):5'- TTGAGAACTCACTCTGTAGACCAGG -3'
(R):5'- AGCTGCCCTTGACTCACGAC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation