Incidental Mutation 'IGL02418:Thsd4'
ID |
292549 |
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: 0.111)
|
Stock # |
IGL02418
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
59874214-60429329 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 60335598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 105
(V105I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098660]
[ENSMUST00000140824]
[ENSMUST00000171654]
|
AlphaFold |
Q3UTY6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098660
AA Change: V105I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000096257 Gene: ENSMUSG00000032289 AA Change: V105I
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: ENSMUST00000140824
AA Change: V105I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123323 Gene: ENSMUSG00000032289 AA Change: V105I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
TSP1
|
57 |
100 |
7.9e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171654
AA Change: V105I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000131418 Gene: ENSMUSG00000032289 AA Change: V105I
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
A |
16: 56,424,479 (GRCm39) |
|
probably benign |
Het |
Acsbg2 |
A |
G |
17: 57,156,730 (GRCm39) |
V436A |
probably benign |
Het |
Afap1l1 |
T |
C |
18: 61,885,648 (GRCm39) |
D156G |
probably damaging |
Het |
Arhgap21 |
G |
A |
2: 20,885,711 (GRCm39) |
R489C |
probably damaging |
Het |
Arhgap26 |
G |
A |
18: 39,490,620 (GRCm39) |
|
probably benign |
Het |
Bbs5 |
T |
G |
2: 69,485,849 (GRCm39) |
*89G |
probably null |
Het |
Ceacam5 |
A |
T |
7: 17,493,359 (GRCm39) |
Y794F |
possibly damaging |
Het |
Ces3b |
T |
C |
8: 105,812,279 (GRCm39) |
V176A |
probably damaging |
Het |
Cfi |
A |
G |
3: 129,642,461 (GRCm39) |
H105R |
probably benign |
Het |
Chat |
C |
T |
14: 32,168,906 (GRCm39) |
V210I |
possibly damaging |
Het |
Chd1l |
A |
G |
3: 97,488,415 (GRCm39) |
S534P |
probably benign |
Het |
Cyb5rl |
T |
C |
4: 106,928,182 (GRCm39) |
L106P |
probably damaging |
Het |
Cyp21a1 |
A |
G |
17: 35,023,162 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,495,679 (GRCm39) |
C1436R |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,108,361 (GRCm39) |
F130I |
probably benign |
Het |
Fryl |
T |
A |
5: 73,267,519 (GRCm39) |
|
probably benign |
Het |
Galnt10 |
T |
C |
11: 57,671,994 (GRCm39) |
V428A |
probably benign |
Het |
Ganab |
A |
G |
19: 8,888,433 (GRCm39) |
D496G |
probably null |
Het |
Gapvd1 |
T |
C |
2: 34,620,530 (GRCm39) |
T44A |
probably benign |
Het |
Gm17093 |
T |
A |
14: 44,758,185 (GRCm39) |
M122K |
unknown |
Het |
Gm5356 |
A |
T |
8: 89,914,064 (GRCm39) |
|
noncoding transcript |
Het |
Gmppa |
G |
T |
1: 75,415,664 (GRCm39) |
G126C |
probably damaging |
Het |
Il23r |
T |
C |
6: 67,467,656 (GRCm39) |
H37R |
possibly damaging |
Het |
Itga11 |
A |
G |
9: 62,651,914 (GRCm39) |
I349V |
probably benign |
Het |
Lrrc42 |
A |
T |
4: 107,100,533 (GRCm39) |
Y159* |
probably null |
Het |
Naa16 |
C |
A |
14: 79,620,806 (GRCm39) |
R57L |
probably damaging |
Het |
Ntmt2 |
A |
T |
1: 163,530,725 (GRCm39) |
V238E |
probably damaging |
Het |
Or8g4 |
A |
G |
9: 39,661,787 (GRCm39) |
Y35C |
probably damaging |
Het |
Oxtr |
A |
T |
6: 112,454,200 (GRCm39) |
H21Q |
probably damaging |
Het |
Paqr7 |
A |
G |
4: 134,234,284 (GRCm39) |
Y47C |
probably damaging |
Het |
Paxbp1 |
A |
C |
16: 90,831,000 (GRCm39) |
C459G |
probably damaging |
Het |
Pnp2 |
C |
T |
14: 51,201,293 (GRCm39) |
R222C |
possibly damaging |
Het |
Rtl1 |
T |
C |
12: 109,556,883 (GRCm39) |
D1652G |
probably damaging |
Het |
Saxo5 |
T |
A |
8: 3,526,080 (GRCm39) |
F78I |
probably damaging |
Het |
Shoc1 |
A |
T |
4: 59,049,075 (GRCm39) |
|
probably benign |
Het |
Spata4 |
C |
A |
8: 55,062,978 (GRCm39) |
N294K |
probably benign |
Het |
Tcp11l2 |
T |
A |
10: 84,449,470 (GRCm39) |
Y478* |
probably null |
Het |
Tcte1 |
T |
A |
17: 45,852,128 (GRCm39) |
S454T |
probably benign |
Het |
Tmem117 |
T |
A |
15: 94,829,765 (GRCm39) |
I200N |
probably benign |
Het |
Tpgs1 |
G |
A |
10: 79,505,289 (GRCm39) |
V16M |
probably benign |
Het |
Ttn |
G |
T |
2: 76,797,447 (GRCm39) |
T539K |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,293,557 (GRCm39) |
S2542G |
probably benign |
Het |
Vmn2r44 |
A |
T |
7: 8,380,864 (GRCm39) |
L343H |
probably damaging |
Het |
Zmat2 |
T |
A |
18: 36,927,392 (GRCm39) |
Y21N |
probably damaging |
Het |
Zyx |
C |
T |
6: 42,334,327 (GRCm39) |
A517V |
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 |
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 |
|
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 |
2015-04-16 |