Incidental Mutation 'R1874:Thsd7a'
| ID |
211033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thsd7a
|
| Ensembl Gene |
ENSMUSG00000032625 |
| Gene Name |
thrombospondin, type I, domain containing 7A |
| Synonyms |
LOC330267 |
| MMRRC Submission |
039896-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
12311607-12749252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12555434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 150
(I150N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119581]
[ENSMUST00000172356]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046121
AA Change: I150N
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040176
Gene: ENSMUSG00000032625
AA Change: I150N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
TSP1
|
49 |
105 |
4.88e0 |
SMART |
|
TSP1
|
186 |
236 |
1.58e-16 |
SMART |
|
low complexity region
|
264 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
304 |
N/A |
INTRINSIC |
|
TSP1
|
352 |
408 |
9.98e-5 |
SMART |
|
TSP1
|
415 |
499 |
3.14e0 |
SMART |
|
TSP1
|
504 |
563 |
6.62e-1 |
SMART |
|
TSP1
|
626 |
684 |
1.24e-9 |
SMART |
|
TSP1
|
687 |
758 |
1.48e0 |
SMART |
|
TSP1
|
763 |
820 |
6.24e-6 |
SMART |
|
TSP1
|
898 |
948 |
7.31e-2 |
SMART |
|
TSP1
|
1027 |
1084 |
1.2e-7 |
SMART |
|
TSP1
|
1087 |
1152 |
5.82e-1 |
SMART |
|
TSP1
|
1157 |
1209 |
4.24e-2 |
SMART |
|
TSP1
|
1212 |
1273 |
1e0 |
SMART |
|
TSP1
|
1278 |
1330 |
3.55e-10 |
SMART |
|
TSP1
|
1331 |
1401 |
7.5e-2 |
SMART |
|
TSP1
|
1406 |
1464 |
1.55e-1 |
SMART |
|
transmembrane domain
|
1596 |
1618 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119443
|
| SMART Domains |
Protein: ENSMUSP00000113780
Gene: ENSMUSG00000032625
| Domain | Start | End | E-Value | Type |
|---|
|
TSP1
|
14 |
70 |
9.98e-5 |
SMART |
|
TSP1
|
77 |
161 |
3.14e0 |
SMART |
|
TSP1
|
166 |
225 |
6.62e-1 |
SMART |
|
Blast:TSP1
|
226 |
262 |
1e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119581
AA Change: I150N
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113681
Gene: ENSMUSG00000032625
AA Change: I150N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
TSP1
|
49 |
105 |
4.88e0 |
SMART |
|
TSP1
|
186 |
236 |
1.58e-16 |
SMART |
|
low complexity region
|
264 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
304 |
N/A |
INTRINSIC |
|
TSP1
|
352 |
408 |
9.98e-5 |
SMART |
|
TSP1
|
415 |
499 |
3.14e0 |
SMART |
|
TSP1
|
504 |
563 |
6.62e-1 |
SMART |
|
TSP1
|
626 |
684 |
1.24e-9 |
SMART |
|
TSP1
|
687 |
758 |
1.48e0 |
SMART |
|
TSP1
|
763 |
820 |
6.24e-6 |
SMART |
|
TSP1
|
898 |
948 |
7.31e-2 |
SMART |
|
TSP1
|
1027 |
1082 |
9.09e-8 |
SMART |
|
TSP1
|
1085 |
1150 |
5.82e-1 |
SMART |
|
TSP1
|
1155 |
1207 |
4.24e-2 |
SMART |
|
TSP1
|
1210 |
1271 |
1e0 |
SMART |
|
TSP1
|
1276 |
1328 |
3.55e-10 |
SMART |
|
TSP1
|
1329 |
1399 |
7.5e-2 |
SMART |
|
TSP1
|
1404 |
1462 |
1.55e-1 |
SMART |
|
transmembrane domain
|
1594 |
1616 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172356
AA Change: I150N
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131662
Gene: ENSMUSG00000032625
AA Change: I150N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
TSP1
|
49 |
105 |
4.88e0 |
SMART |
|
TSP1
|
186 |
236 |
1.58e-16 |
SMART |
|
low complexity region
|
264 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
304 |
N/A |
INTRINSIC |
|
TSP1
|
352 |
408 |
9.98e-5 |
SMART |
|
TSP1
|
415 |
499 |
3.14e0 |
SMART |
|
TSP1
|
504 |
563 |
6.62e-1 |
SMART |
|
TSP1
|
626 |
684 |
1.24e-9 |
SMART |
|
TSP1
|
687 |
758 |
1.48e0 |
SMART |
|
TSP1
|
763 |
820 |
6.24e-6 |
SMART |
|
TSP1
|
898 |
948 |
7.31e-2 |
SMART |
|
TSP1
|
1027 |
1084 |
1.95e-7 |
SMART |
|
TSP1
|
1087 |
1152 |
5.82e-1 |
SMART |
|
TSP1
|
1157 |
1209 |
4.24e-2 |
SMART |
|
TSP1
|
1212 |
1273 |
1e0 |
SMART |
|
TSP1
|
1278 |
1330 |
3.55e-10 |
SMART |
|
TSP1
|
1331 |
1401 |
7.5e-2 |
SMART |
|
TSP1
|
1406 |
1464 |
1.55e-1 |
SMART |
|
transmembrane domain
|
1596 |
1618 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1309 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.8%
- 20x: 94.1%
|
| Validation Efficiency |
96% (105/109) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,670,428 (GRCm39) |
S217G |
probably benign |
Het |
| Adrb3 |
C |
A |
8: 27,717,591 (GRCm39) |
R286L |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,749,306 (GRCm39) |
D1027V |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,733,913 (GRCm39) |
I726F |
probably damaging |
Het |
| Ankmy2 |
T |
A |
12: 36,215,930 (GRCm39) |
D43E |
possibly damaging |
Het |
| Ankrd34b |
A |
G |
13: 92,576,064 (GRCm39) |
D432G |
probably damaging |
Het |
| Ano3 |
A |
C |
2: 110,715,217 (GRCm39) |
S74A |
probably benign |
Het |
| B4galnt4 |
T |
A |
7: 140,650,439 (GRCm39) |
S769T |
probably damaging |
Het |
| Bicral |
T |
A |
17: 47,136,104 (GRCm39) |
T369S |
probably benign |
Het |
| Blm |
A |
G |
7: 80,147,166 (GRCm39) |
L738P |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,767,760 (GRCm39) |
T278A |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,069,122 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
G |
C |
18: 34,743,527 (GRCm39) |
P266R |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,957,983 (GRCm39) |
M587L |
probably benign |
Het |
| Casz1 |
C |
G |
4: 149,027,668 (GRCm39) |
T1015S |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,272,597 (GRCm39) |
I524T |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,713,037 (GRCm39) |
V1825A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,416,013 (GRCm39) |
L104P |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,528,315 (GRCm39) |
|
probably null |
Het |
| Coprs |
A |
G |
8: 13,935,112 (GRCm39) |
W148R |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,302 (GRCm39) |
S168P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,661,563 (GRCm39) |
Y408C |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 63,339,886 (GRCm39) |
E24G |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,327,813 (GRCm39) |
S2671C |
probably damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,298 (GRCm39) |
F265Y |
probably damaging |
Het |
| Dgkq |
C |
A |
5: 108,808,461 (GRCm39) |
R34L |
probably benign |
Het |
| Dnajc7 |
C |
T |
11: 100,490,139 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
G |
11: 29,781,136 (GRCm39) |
D632A |
probably damaging |
Het |
| Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,214,179 (GRCm39) |
C212* |
probably null |
Het |
| Ffar2 |
A |
G |
7: 30,518,839 (GRCm39) |
|
probably null |
Het |
| Fga |
A |
T |
3: 82,940,028 (GRCm39) |
T561S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,386 (GRCm39) |
Y159C |
probably damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,231 (GRCm39) |
Y146C |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,596,033 (GRCm39) |
H788Q |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,449 (GRCm39) |
V12I |
possibly damaging |
Het |
| Gli2 |
C |
A |
1: 118,929,779 (GRCm39) |
A43S |
possibly damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,419 (GRCm39) |
F224L |
probably damaging |
Het |
| Gm21738 |
C |
T |
14: 19,418,824 (GRCm38) |
V35I |
possibly damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,155 (GRCm39) |
|
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,598,086 (GRCm39) |
Y53H |
probably damaging |
Het |
| Hcar1 |
C |
T |
5: 124,017,328 (GRCm39) |
R121K |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,596,446 (GRCm39) |
S1797A |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,783,562 (GRCm39) |
L282Q |
possibly damaging |
Het |
| Irs1 |
TTCTCTGAGTGGCCACAGCGTCT |
TTCT |
1: 82,267,574 (GRCm39) |
|
probably null |
Het |
| Kif1b |
C |
T |
4: 149,272,089 (GRCm39) |
V1571I |
probably benign |
Het |
| Lpl |
T |
A |
8: 69,349,271 (GRCm39) |
C266S |
probably damaging |
Het |
| Mag |
G |
A |
7: 30,608,476 (GRCm39) |
H213Y |
probably benign |
Het |
| Mansc4 |
T |
G |
6: 146,976,688 (GRCm39) |
R309S |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,284,287 (GRCm39) |
|
probably null |
Het |
| Mndal |
G |
A |
1: 173,687,933 (GRCm39) |
|
probably benign |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,742 (GRCm39) |
E330V |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,984,005 (GRCm39) |
I990V |
probably benign |
Het |
| Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,593,183 (GRCm39) |
E463G |
possibly damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,351,581 (GRCm39) |
F684S |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,371,591 (GRCm39) |
E286G |
possibly damaging |
Het |
| Nynrin |
A |
T |
14: 56,100,950 (GRCm39) |
I247L |
probably benign |
Het |
| Oprm1 |
A |
G |
10: 6,739,035 (GRCm39) |
H54R |
probably benign |
Het |
| Or10g6 |
T |
A |
9: 39,934,151 (GRCm39) |
I154N |
possibly damaging |
Het |
| Or2n1d |
C |
T |
17: 38,646,860 (GRCm39) |
P271S |
probably damaging |
Het |
| Or51a43 |
T |
C |
7: 103,717,336 (GRCm39) |
I301V |
probably null |
Het |
| P4hb |
C |
T |
11: 120,452,992 (GRCm39) |
D483N |
probably benign |
Het |
| Pak1 |
T |
C |
7: 97,520,787 (GRCm39) |
S149P |
probably benign |
Het |
| Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
| Pih1d2 |
A |
G |
9: 50,532,245 (GRCm39) |
M88V |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,246,392 (GRCm39) |
N382K |
probably benign |
Het |
| Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
| Pole |
G |
A |
5: 110,471,530 (GRCm39) |
V1425M |
possibly damaging |
Het |
| Pot1b |
T |
A |
17: 55,961,805 (GRCm39) |
Q591L |
probably benign |
Het |
| Ppp1r9a |
C |
T |
6: 4,906,348 (GRCm39) |
T301M |
possibly damaging |
Het |
| Psg21 |
T |
C |
7: 18,384,741 (GRCm39) |
E335G |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,497,066 (GRCm39) |
M1416L |
probably benign |
Het |
| Pxn |
T |
C |
5: 115,683,049 (GRCm39) |
V117A |
probably damaging |
Het |
| Qsox1 |
C |
T |
1: 155,688,385 (GRCm39) |
R54H |
possibly damaging |
Het |
| Rad1 |
A |
G |
15: 10,488,092 (GRCm39) |
E42G |
probably damaging |
Het |
| Rpp14 |
A |
G |
14: 8,090,145 (GRCm38) |
Y23C |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,725,782 (GRCm39) |
V1156I |
probably benign |
Het |
| Serpina3j |
G |
T |
12: 104,285,958 (GRCm39) |
R371L |
probably benign |
Het |
| Serpinb9d |
T |
A |
13: 33,381,946 (GRCm39) |
|
probably null |
Het |
| Sirt5 |
C |
T |
13: 43,524,267 (GRCm39) |
S13F |
possibly damaging |
Het |
| Slc6a7 |
T |
A |
18: 61,134,470 (GRCm39) |
|
probably benign |
Het |
| Slx4 |
A |
G |
16: 3,804,712 (GRCm39) |
S701P |
probably benign |
Het |
| Snx29 |
A |
G |
16: 11,185,545 (GRCm39) |
T43A |
probably benign |
Het |
| Speg |
T |
C |
1: 75,400,550 (GRCm39) |
V2570A |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,591,565 (GRCm39) |
|
probably benign |
Het |
| Stk32a |
A |
G |
18: 43,394,381 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tbc1d31 |
G |
A |
15: 57,779,506 (GRCm39) |
G73E |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,969,001 (GRCm39) |
D699E |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,565,988 (GRCm39) |
D437G |
possibly damaging |
Het |
| Tmem45a2 |
A |
G |
16: 56,867,447 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,340,383 (GRCm39) |
T7S |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,407,922 (GRCm39) |
V1397D |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,432,428 (GRCm39) |
L832P |
probably damaging |
Het |
| Ugp2 |
G |
T |
11: 21,279,048 (GRCm39) |
F379L |
probably damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,365,437 (GRCm39) |
D350V |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,284 (GRCm39) |
T188S |
possibly damaging |
Het |
| Vwa7 |
C |
G |
17: 35,236,088 (GRCm39) |
P14R |
probably benign |
Het |
| Vwc2 |
C |
A |
11: 11,211,495 (GRCm39) |
T317K |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,605,335 (GRCm39) |
Q906L |
probably benign |
Het |
| Wdr49 |
A |
G |
3: 75,336,654 (GRCm39) |
V351A |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,575 (GRCm39) |
S196G |
probably benign |
Het |
| Xkr6 |
C |
A |
14: 64,035,745 (GRCm39) |
A26E |
unknown |
Het |
| Zfp955b |
T |
C |
17: 33,524,427 (GRCm39) |
I47V |
probably benign |
Het |
|
| Other mutations in Thsd7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Thsd7a
|
APN |
6 |
12,379,658 (GRCm39) |
splice site |
probably null |
|
|
IGL00563:Thsd7a
|
APN |
6 |
12,379,658 (GRCm39) |
splice site |
probably null |
|
|
IGL00753:Thsd7a
|
APN |
6 |
12,327,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:Thsd7a
|
APN |
6 |
12,554,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01486:Thsd7a
|
APN |
6 |
12,471,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Thsd7a
|
APN |
6 |
12,554,980 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01931:Thsd7a
|
APN |
6 |
12,504,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01935:Thsd7a
|
APN |
6 |
12,317,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01978:Thsd7a
|
APN |
6 |
12,331,005 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02233:Thsd7a
|
APN |
6 |
12,555,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02354:Thsd7a
|
APN |
6 |
12,348,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL02361:Thsd7a
|
APN |
6 |
12,348,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL02375:Thsd7a
|
APN |
6 |
12,343,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02468:Thsd7a
|
APN |
6 |
12,318,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02616:Thsd7a
|
APN |
6 |
12,408,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02820:Thsd7a
|
APN |
6 |
12,321,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02858:Thsd7a
|
APN |
6 |
12,500,994 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03074:Thsd7a
|
APN |
6 |
12,324,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03234:Thsd7a
|
APN |
6 |
12,343,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03244:Thsd7a
|
APN |
6 |
12,504,167 (GRCm39) |
splice site |
probably benign |
|
|
IGL03337:Thsd7a
|
APN |
6 |
12,405,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Thsd7a
|
UTSW |
6 |
12,555,630 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
PIT4354001:Thsd7a
|
UTSW |
6 |
12,331,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0095:Thsd7a
|
UTSW |
6 |
12,320,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0127:Thsd7a
|
UTSW |
6 |
12,554,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0142:Thsd7a
|
UTSW |
6 |
12,418,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Thsd7a
|
UTSW |
6 |
12,321,899 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0242:Thsd7a
|
UTSW |
6 |
12,503,915 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0242:Thsd7a
|
UTSW |
6 |
12,503,915 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0359:Thsd7a
|
UTSW |
6 |
12,352,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Thsd7a
|
UTSW |
6 |
12,321,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0504:Thsd7a
|
UTSW |
6 |
12,379,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0512:Thsd7a
|
UTSW |
6 |
12,379,604 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0540:Thsd7a
|
UTSW |
6 |
12,331,541 (GRCm39) |
splice site |
probably null |
|
|
R0577:Thsd7a
|
UTSW |
6 |
12,321,047 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0607:Thsd7a
|
UTSW |
6 |
12,331,541 (GRCm39) |
splice site |
probably null |
|
|
R0755:Thsd7a
|
UTSW |
6 |
12,555,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0771:Thsd7a
|
UTSW |
6 |
12,327,576 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0780:Thsd7a
|
UTSW |
6 |
12,337,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0870:Thsd7a
|
UTSW |
6 |
12,337,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0871:Thsd7a
|
UTSW |
6 |
12,337,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0872:Thsd7a
|
UTSW |
6 |
12,337,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0873:Thsd7a
|
UTSW |
6 |
12,337,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Thsd7a
|
UTSW |
6 |
12,555,701 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1144:Thsd7a
|
UTSW |
6 |
12,471,026 (GRCm39) |
splice site |
probably benign |
|
|
R1265:Thsd7a
|
UTSW |
6 |
12,317,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1276:Thsd7a
|
UTSW |
6 |
12,418,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1381:Thsd7a
|
UTSW |
6 |
12,555,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Thsd7a
|
UTSW |
6 |
12,338,621 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1519:Thsd7a
|
UTSW |
6 |
12,471,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1633:Thsd7a
|
UTSW |
6 |
12,471,103 (GRCm39) |
nonsense |
probably null |
|
|
R1659:Thsd7a
|
UTSW |
6 |
12,504,063 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1769:Thsd7a
|
UTSW |
6 |
12,555,714 (GRCm39) |
nonsense |
probably null |
|
|
R1824:Thsd7a
|
UTSW |
6 |
12,409,041 (GRCm39) |
splice site |
probably null |
|
|
R1840:Thsd7a
|
UTSW |
6 |
12,330,973 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1845:Thsd7a
|
UTSW |
6 |
12,321,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Thsd7a
|
UTSW |
6 |
12,327,535 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2039:Thsd7a
|
UTSW |
6 |
12,408,922 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2058:Thsd7a
|
UTSW |
6 |
12,318,105 (GRCm39) |
splice site |
probably benign |
|
|
R2138:Thsd7a
|
UTSW |
6 |
12,471,072 (GRCm39) |
nonsense |
probably null |
|
|
R2155:Thsd7a
|
UTSW |
6 |
12,379,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2175:Thsd7a
|
UTSW |
6 |
12,331,943 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2216:Thsd7a
|
UTSW |
6 |
12,337,267 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2318:Thsd7a
|
UTSW |
6 |
12,405,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2375:Thsd7a
|
UTSW |
6 |
12,337,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3857:Thsd7a
|
UTSW |
6 |
12,555,225 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3858:Thsd7a
|
UTSW |
6 |
12,555,225 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3890:Thsd7a
|
UTSW |
6 |
12,418,336 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3910:Thsd7a
|
UTSW |
6 |
12,331,548 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3933:Thsd7a
|
UTSW |
6 |
12,555,225 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4369:Thsd7a
|
UTSW |
6 |
12,468,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Thsd7a
|
UTSW |
6 |
12,324,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4664:Thsd7a
|
UTSW |
6 |
12,504,012 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4664:Thsd7a
|
UTSW |
6 |
12,337,313 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4665:Thsd7a
|
UTSW |
6 |
12,504,012 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4665:Thsd7a
|
UTSW |
6 |
12,337,313 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4666:Thsd7a
|
UTSW |
6 |
12,504,012 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4666:Thsd7a
|
UTSW |
6 |
12,337,313 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4668:Thsd7a
|
UTSW |
6 |
12,408,967 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4886:Thsd7a
|
UTSW |
6 |
12,327,659 (GRCm39) |
nonsense |
probably null |
|
|
R4918:Thsd7a
|
UTSW |
6 |
12,327,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Thsd7a
|
UTSW |
6 |
12,330,991 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5064:Thsd7a
|
UTSW |
6 |
12,330,951 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5153:Thsd7a
|
UTSW |
6 |
12,338,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5177:Thsd7a
|
UTSW |
6 |
12,379,582 (GRCm39) |
nonsense |
probably null |
|
|
R5242:Thsd7a
|
UTSW |
6 |
12,327,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Thsd7a
|
UTSW |
6 |
12,379,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5442:Thsd7a
|
UTSW |
6 |
12,748,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5506:Thsd7a
|
UTSW |
6 |
12,332,016 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5525:Thsd7a
|
UTSW |
6 |
12,332,006 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5544:Thsd7a
|
UTSW |
6 |
12,379,470 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5651:Thsd7a
|
UTSW |
6 |
12,343,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5716:Thsd7a
|
UTSW |
6 |
12,343,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5848:Thsd7a
|
UTSW |
6 |
12,503,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Thsd7a
|
UTSW |
6 |
12,337,261 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6012:Thsd7a
|
UTSW |
6 |
12,379,388 (GRCm39) |
splice site |
probably null |
|
|
R6139:Thsd7a
|
UTSW |
6 |
12,379,572 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6243:Thsd7a
|
UTSW |
6 |
12,327,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Thsd7a
|
UTSW |
6 |
12,408,987 (GRCm39) |
nonsense |
probably null |
|
|
R6273:Thsd7a
|
UTSW |
6 |
12,408,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6300:Thsd7a
|
UTSW |
6 |
12,471,103 (GRCm39) |
nonsense |
probably null |
|
|
R6314:Thsd7a
|
UTSW |
6 |
12,554,996 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6392:Thsd7a
|
UTSW |
6 |
12,468,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6418:Thsd7a
|
UTSW |
6 |
12,555,081 (GRCm39) |
nonsense |
probably null |
|
|
R6515:Thsd7a
|
UTSW |
6 |
12,501,085 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6725:Thsd7a
|
UTSW |
6 |
12,555,630 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6742:Thsd7a
|
UTSW |
6 |
12,408,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Thsd7a
|
UTSW |
6 |
12,555,636 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6838:Thsd7a
|
UTSW |
6 |
12,504,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7104:Thsd7a
|
UTSW |
6 |
12,379,429 (GRCm39) |
missense |
|
|
|
R7170:Thsd7a
|
UTSW |
6 |
12,352,090 (GRCm39) |
missense |
|
|
|
R7349:Thsd7a
|
UTSW |
6 |
12,352,067 (GRCm39) |
missense |
|
|
|
R7460:Thsd7a
|
UTSW |
6 |
12,554,933 (GRCm39) |
missense |
|
|
|
R7467:Thsd7a
|
UTSW |
6 |
12,331,584 (GRCm39) |
missense |
|
|
|
R7666:Thsd7a
|
UTSW |
6 |
12,379,437 (GRCm39) |
missense |
|
|
|
R7869:Thsd7a
|
UTSW |
6 |
12,471,123 (GRCm39) |
nonsense |
probably null |
|
|
R8032:Thsd7a
|
UTSW |
6 |
12,555,287 (GRCm39) |
missense |
|
|
|
R8165:Thsd7a
|
UTSW |
6 |
12,468,962 (GRCm39) |
missense |
|
|
|
R8167:Thsd7a
|
UTSW |
6 |
12,317,400 (GRCm39) |
nonsense |
probably null |
|
|
R8245:Thsd7a
|
UTSW |
6 |
12,379,592 (GRCm39) |
missense |
|
|
|
R8310:Thsd7a
|
UTSW |
6 |
12,396,612 (GRCm39) |
missense |
|
|
|
R8312:Thsd7a
|
UTSW |
6 |
12,471,181 (GRCm39) |
missense |
|
|
|
R8331:Thsd7a
|
UTSW |
6 |
12,471,157 (GRCm39) |
missense |
|
|
|
R8755:Thsd7a
|
UTSW |
6 |
12,408,851 (GRCm39) |
nonsense |
probably null |
|
|
R8843:Thsd7a
|
UTSW |
6 |
12,501,136 (GRCm39) |
missense |
|
|
|
R8867:Thsd7a
|
UTSW |
6 |
12,338,686 (GRCm39) |
missense |
|
|
|
R8952:Thsd7a
|
UTSW |
6 |
12,468,992 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9036:Thsd7a
|
UTSW |
6 |
12,418,249 (GRCm39) |
missense |
|
|
|
R9299:Thsd7a
|
UTSW |
6 |
12,504,131 (GRCm39) |
missense |
|
|
|
R9366:Thsd7a
|
UTSW |
6 |
12,555,480 (GRCm39) |
missense |
|
|
|
R9489:Thsd7a
|
UTSW |
6 |
12,352,022 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCTGAAACTCGGTGAGG -3'
(R):5'- TGTGAGACCCAGTAACCAGC -3'
Sequencing Primer
(F):5'- ATACTGTGGCGGTGCAAC -3'
(R):5'- CCAGCAAAACTGTTTCAAGGTCTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation