Incidental Mutation 'R7519:Cobl'
ID |
582574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cobl
|
Ensembl Gene |
ENSMUSG00000020173 |
Gene Name |
cordon-bleu WH2 repeat |
Synonyms |
C530045F18Rik |
MMRRC Submission |
045591-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7519 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
12186676-12415022 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 12203124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1193
(I1193F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045693
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046755]
[ENSMUST00000109650]
[ENSMUST00000109651]
[ENSMUST00000172919]
[ENSMUST00000172956]
[ENSMUST00000174874]
|
AlphaFold |
Q5NBX1 |
PDB Structure |
Actin complex with Gelsolin Segment 1 fused to Cobl segment [X-RAY DIFFRACTION]
Crystal Structure of an Actin Dimer in Complex with the Actin Nucleator Cordon-Bleu [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046755
AA Change: I1193F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045693 Gene: ENSMUSG00000020173 AA Change: I1193F
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
Pfam:Cobl
|
144 |
235 |
2.2e-46 |
PFAM |
low complexity region
|
328 |
333 |
N/A |
INTRINSIC |
low complexity region
|
360 |
376 |
N/A |
INTRINSIC |
low complexity region
|
408 |
433 |
N/A |
INTRINSIC |
low complexity region
|
468 |
482 |
N/A |
INTRINSIC |
low complexity region
|
526 |
541 |
N/A |
INTRINSIC |
coiled coil region
|
564 |
589 |
N/A |
INTRINSIC |
WH2
|
1185 |
1205 |
1.32e0 |
SMART |
WH2
|
1225 |
1245 |
6.36e-3 |
SMART |
low complexity region
|
1276 |
1296 |
N/A |
INTRINSIC |
WH2
|
1313 |
1333 |
3.91e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109650
AA Change: I1111F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105277 Gene: ENSMUSG00000020173 AA Change: I1111F
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
Pfam:Cobl
|
182 |
260 |
1.6e-40 |
PFAM |
low complexity region
|
303 |
308 |
N/A |
INTRINSIC |
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
low complexity region
|
386 |
400 |
N/A |
INTRINSIC |
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
coiled coil region
|
482 |
507 |
N/A |
INTRINSIC |
WH2
|
1103 |
1123 |
1.32e0 |
SMART |
WH2
|
1143 |
1163 |
6.36e-3 |
SMART |
low complexity region
|
1194 |
1214 |
N/A |
INTRINSIC |
WH2
|
1231 |
1251 |
3.91e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109651
AA Change: I1168F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105278 Gene: ENSMUSG00000020173 AA Change: I1168F
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
Pfam:Cobl
|
182 |
260 |
1.2e-40 |
PFAM |
low complexity region
|
303 |
308 |
N/A |
INTRINSIC |
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
low complexity region
|
383 |
408 |
N/A |
INTRINSIC |
low complexity region
|
443 |
457 |
N/A |
INTRINSIC |
low complexity region
|
501 |
516 |
N/A |
INTRINSIC |
coiled coil region
|
539 |
564 |
N/A |
INTRINSIC |
WH2
|
1160 |
1180 |
1.32e0 |
SMART |
WH2
|
1200 |
1220 |
6.36e-3 |
SMART |
low complexity region
|
1251 |
1271 |
N/A |
INTRINSIC |
WH2
|
1288 |
1308 |
3.91e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172919
|
SMART Domains |
Protein: ENSMUSP00000133669 Gene: ENSMUSG00000020173
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
Pfam:Cobl
|
182 |
260 |
2.6e-41 |
PFAM |
low complexity region
|
328 |
333 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172956
|
SMART Domains |
Protein: ENSMUSP00000134372 Gene: ENSMUSG00000020173
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
Pfam:Cobl
|
182 |
260 |
2.4e-41 |
PFAM |
low complexity region
|
303 |
308 |
N/A |
INTRINSIC |
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174874
AA Change: I1186F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133470 Gene: ENSMUSG00000020173 AA Change: I1186F
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
23 |
N/A |
INTRINSIC |
Pfam:Cobl
|
175 |
253 |
1.2e-40 |
PFAM |
low complexity region
|
321 |
326 |
N/A |
INTRINSIC |
low complexity region
|
353 |
369 |
N/A |
INTRINSIC |
low complexity region
|
401 |
426 |
N/A |
INTRINSIC |
low complexity region
|
461 |
475 |
N/A |
INTRINSIC |
low complexity region
|
519 |
534 |
N/A |
INTRINSIC |
coiled coil region
|
557 |
582 |
N/A |
INTRINSIC |
WH2
|
1178 |
1198 |
1.32e0 |
SMART |
WH2
|
1218 |
1238 |
6.36e-3 |
SMART |
low complexity region
|
1269 |
1289 |
N/A |
INTRINSIC |
WH2
|
1306 |
1326 |
3.91e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (54/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016] PHENOTYPE: Animals homozygous for this mutation do not display a phenotype. However, the allele exacerbates the neural tube defects seen in the loop tail mouse. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
G |
A |
7: 27,274,155 (GRCm39) |
R132K |
|
Het |
Acaca |
T |
C |
11: 84,136,682 (GRCm39) |
S571P |
probably damaging |
Het |
Adamts20 |
T |
G |
15: 94,223,869 (GRCm39) |
K1286N |
possibly damaging |
Het |
Adamts7 |
A |
G |
9: 90,079,132 (GRCm39) |
D1477G |
probably benign |
Het |
Alox12b |
C |
T |
11: 69,054,039 (GRCm39) |
T207I |
probably benign |
Het |
Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
Arid1b |
CGGCGG |
CGGCGGTGGCGG |
17: 5,046,128 (GRCm39) |
|
probably benign |
Het |
Aspm |
T |
A |
1: 139,418,074 (GRCm39) |
N2934K |
possibly damaging |
Het |
Axin2 |
T |
G |
11: 108,833,072 (GRCm39) |
V419G |
probably benign |
Het |
B4galnt4 |
A |
G |
7: 140,644,257 (GRCm39) |
T108A |
probably damaging |
Het |
Cacna1s |
G |
A |
1: 135,998,494 (GRCm39) |
R174Q |
probably damaging |
Het |
Cdh18 |
G |
T |
15: 23,474,298 (GRCm39) |
A723S |
possibly damaging |
Het |
Ces4a |
T |
C |
8: 105,871,851 (GRCm39) |
M307T |
probably damaging |
Het |
Crb2 |
G |
T |
2: 37,683,332 (GRCm39) |
G945W |
probably damaging |
Het |
Ctnna1 |
T |
G |
18: 35,307,424 (GRCm39) |
I140M |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,390,629 (GRCm39) |
S3213P |
probably damaging |
Het |
Fbln7 |
A |
G |
2: 128,735,785 (GRCm39) |
S258G |
probably benign |
Het |
Fbxo15 |
T |
G |
18: 84,982,359 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,785,724 (GRCm39) |
Y387C |
probably damaging |
Het |
Flt3l |
G |
A |
7: 44,783,269 (GRCm39) |
T176I |
unknown |
Het |
Galk2 |
G |
A |
2: 125,825,172 (GRCm39) |
R456H |
possibly damaging |
Het |
Gm10840 |
T |
C |
11: 106,051,716 (GRCm39) |
L14P |
unknown |
Het |
Gm5591 |
T |
C |
7: 38,220,094 (GRCm39) |
T260A |
possibly damaging |
Het |
Gm6370 |
T |
A |
5: 146,430,638 (GRCm39) |
D274E |
probably damaging |
Het |
Grhl2 |
T |
A |
15: 37,336,556 (GRCm39) |
D484E |
probably damaging |
Het |
Hbp1 |
A |
T |
12: 31,983,374 (GRCm39) |
V360D |
probably damaging |
Het |
Heatr5b |
G |
T |
17: 79,062,646 (GRCm39) |
Q1968K |
probably benign |
Het |
Igsf8 |
C |
T |
1: 172,143,874 (GRCm39) |
T72M |
probably benign |
Het |
Kera |
A |
T |
10: 97,444,884 (GRCm39) |
N81I |
probably damaging |
Het |
Klhl14 |
C |
T |
18: 21,784,900 (GRCm39) |
V176I |
probably benign |
Het |
Klrb1 |
A |
T |
6: 128,689,252 (GRCm39) |
V73E |
probably damaging |
Het |
Krtap31-2 |
T |
C |
11: 99,827,501 (GRCm39) |
L111P |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,799,725 (GRCm39) |
S106P |
probably damaging |
Het |
Nckap5l |
T |
C |
15: 99,324,128 (GRCm39) |
T792A |
probably benign |
Het |
Ndufaf4 |
A |
C |
4: 24,901,847 (GRCm39) |
T132P |
probably damaging |
Het |
Neo1 |
A |
G |
9: 58,785,348 (GRCm39) |
V1453A |
probably benign |
Het |
Or5w13 |
T |
C |
2: 87,523,753 (GRCm39) |
I158V |
probably benign |
Het |
Or6c76 |
A |
C |
10: 129,612,091 (GRCm39) |
I103L |
probably benign |
Het |
Pcdha11 |
T |
A |
18: 37,139,319 (GRCm39) |
L316* |
probably null |
Het |
Pcdha7 |
T |
C |
18: 37,109,285 (GRCm39) |
M770T |
possibly damaging |
Het |
Pcsk1 |
T |
C |
13: 75,258,984 (GRCm39) |
S253P |
probably damaging |
Het |
Phtf1 |
T |
C |
3: 103,876,435 (GRCm39) |
Y12H |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,792,268 (GRCm39) |
N508S |
probably benign |
Het |
Pla1a |
A |
G |
16: 38,235,208 (GRCm39) |
I162T |
possibly damaging |
Het |
Rb1 |
A |
T |
14: 73,502,048 (GRCm39) |
L446M |
probably damaging |
Het |
Retn |
A |
T |
8: 3,706,079 (GRCm39) |
S22C |
probably damaging |
Het |
Snx25 |
A |
G |
8: 46,569,309 (GRCm39) |
L196P |
probably damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Spata31d1b |
G |
A |
13: 59,864,726 (GRCm39) |
D625N |
probably benign |
Het |
Sycp2 |
T |
C |
2: 177,988,126 (GRCm39) |
*1501W |
probably null |
Het |
Tarbp1 |
T |
G |
8: 127,160,639 (GRCm39) |
T1271P |
possibly damaging |
Het |
Uba1y |
T |
C |
Y: 821,567 (GRCm39) |
F154L |
probably benign |
Het |
Ubr1 |
T |
A |
2: 120,705,925 (GRCm39) |
I1513F |
possibly damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,804,524 (GRCm39) |
Q132L |
probably benign |
Het |
Vwf |
A |
T |
6: 125,644,506 (GRCm39) |
T2454S |
|
Het |
Wdr33 |
C |
A |
18: 32,029,823 (GRCm39) |
F1007L |
unknown |
Het |
Zfp398 |
A |
G |
6: 47,836,407 (GRCm39) |
H201R |
probably benign |
Het |
|
Other mutations in Cobl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00338:Cobl
|
APN |
11 |
12,325,813 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL00698:Cobl
|
APN |
11 |
12,203,722 (GRCm39) |
missense |
probably benign |
0.41 |
IGL00772:Cobl
|
APN |
11 |
12,216,985 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00922:Cobl
|
APN |
11 |
12,204,866 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00985:Cobl
|
APN |
11 |
12,204,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01641:Cobl
|
APN |
11 |
12,259,641 (GRCm39) |
nonsense |
probably null |
|
IGL01722:Cobl
|
APN |
11 |
12,203,987 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01734:Cobl
|
APN |
11 |
12,204,980 (GRCm39) |
splice site |
probably benign |
|
IGL01924:Cobl
|
APN |
11 |
12,204,596 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02105:Cobl
|
APN |
11 |
12,199,651 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02326:Cobl
|
APN |
11 |
12,336,712 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02342:Cobl
|
APN |
11 |
12,203,672 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02426:Cobl
|
APN |
11 |
12,204,351 (GRCm39) |
nonsense |
probably null |
|
IGL02754:Cobl
|
APN |
11 |
12,204,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02754:Cobl
|
APN |
11 |
12,204,371 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02811:Cobl
|
APN |
11 |
12,203,285 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02859:Cobl
|
APN |
11 |
12,319,602 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02999:Cobl
|
APN |
11 |
12,293,869 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03030:Cobl
|
APN |
11 |
12,204,241 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL03191:Cobl
|
APN |
11 |
12,203,364 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4418001:Cobl
|
UTSW |
11 |
12,206,240 (GRCm39) |
missense |
possibly damaging |
0.79 |
PIT4480001:Cobl
|
UTSW |
11 |
12,203,592 (GRCm39) |
missense |
probably benign |
|
PIT4495001:Cobl
|
UTSW |
11 |
12,204,596 (GRCm39) |
missense |
probably benign |
0.00 |
R0031:Cobl
|
UTSW |
11 |
12,204,945 (GRCm39) |
missense |
probably benign |
0.36 |
R0241:Cobl
|
UTSW |
11 |
12,204,524 (GRCm39) |
missense |
probably benign |
0.25 |
R0241:Cobl
|
UTSW |
11 |
12,204,524 (GRCm39) |
missense |
probably benign |
0.25 |
R0322:Cobl
|
UTSW |
11 |
12,217,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R0597:Cobl
|
UTSW |
11 |
12,204,699 (GRCm39) |
missense |
probably benign |
0.24 |
R0733:Cobl
|
UTSW |
11 |
12,315,167 (GRCm39) |
missense |
probably benign |
0.31 |
R0734:Cobl
|
UTSW |
11 |
12,325,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R0784:Cobl
|
UTSW |
11 |
12,216,843 (GRCm39) |
splice site |
probably benign |
|
R0884:Cobl
|
UTSW |
11 |
12,325,908 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1065:Cobl
|
UTSW |
11 |
12,204,327 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1331:Cobl
|
UTSW |
11 |
12,325,853 (GRCm39) |
missense |
probably damaging |
0.96 |
R1892:Cobl
|
UTSW |
11 |
12,203,258 (GRCm39) |
missense |
probably damaging |
0.99 |
R2847:Cobl
|
UTSW |
11 |
12,328,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R2848:Cobl
|
UTSW |
11 |
12,328,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R3407:Cobl
|
UTSW |
11 |
12,325,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Cobl
|
UTSW |
11 |
12,201,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R4662:Cobl
|
UTSW |
11 |
12,203,672 (GRCm39) |
missense |
probably benign |
0.08 |
R4677:Cobl
|
UTSW |
11 |
12,336,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4844:Cobl
|
UTSW |
11 |
12,204,740 (GRCm39) |
missense |
probably benign |
0.10 |
R4942:Cobl
|
UTSW |
11 |
12,204,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R5158:Cobl
|
UTSW |
11 |
12,206,198 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5195:Cobl
|
UTSW |
11 |
12,203,565 (GRCm39) |
missense |
probably benign |
0.02 |
R5255:Cobl
|
UTSW |
11 |
12,325,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Cobl
|
UTSW |
11 |
12,293,886 (GRCm39) |
nonsense |
probably null |
|
R5637:Cobl
|
UTSW |
11 |
12,246,531 (GRCm39) |
intron |
probably benign |
|
R5643:Cobl
|
UTSW |
11 |
12,256,948 (GRCm39) |
splice site |
probably benign |
|
R5749:Cobl
|
UTSW |
11 |
12,216,965 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5953:Cobl
|
UTSW |
11 |
12,206,220 (GRCm39) |
missense |
probably benign |
0.00 |
R6000:Cobl
|
UTSW |
11 |
12,319,684 (GRCm39) |
missense |
probably benign |
0.08 |
R6373:Cobl
|
UTSW |
11 |
12,203,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R7034:Cobl
|
UTSW |
11 |
12,204,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R7071:Cobl
|
UTSW |
11 |
12,204,795 (GRCm39) |
missense |
probably benign |
0.00 |
R7077:Cobl
|
UTSW |
11 |
12,203,441 (GRCm39) |
missense |
probably benign |
0.04 |
R7078:Cobl
|
UTSW |
11 |
12,328,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R7099:Cobl
|
UTSW |
11 |
12,246,540 (GRCm39) |
missense |
|
|
R7153:Cobl
|
UTSW |
11 |
12,204,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Cobl
|
UTSW |
11 |
12,206,225 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7767:Cobl
|
UTSW |
11 |
12,362,117 (GRCm39) |
start gained |
probably benign |
|
R7772:Cobl
|
UTSW |
11 |
12,204,488 (GRCm39) |
missense |
probably benign |
0.29 |
R7841:Cobl
|
UTSW |
11 |
12,203,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R7845:Cobl
|
UTSW |
11 |
12,315,139 (GRCm39) |
missense |
probably benign |
0.35 |
R8026:Cobl
|
UTSW |
11 |
12,203,459 (GRCm39) |
missense |
probably benign |
0.01 |
R8118:Cobl
|
UTSW |
11 |
12,204,834 (GRCm39) |
missense |
probably benign |
0.03 |
R8192:Cobl
|
UTSW |
11 |
12,199,745 (GRCm39) |
missense |
probably benign |
0.07 |
R8320:Cobl
|
UTSW |
11 |
12,217,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R8338:Cobl
|
UTSW |
11 |
12,203,696 (GRCm39) |
missense |
probably benign |
0.41 |
R9319:Cobl
|
UTSW |
11 |
12,203,648 (GRCm39) |
missense |
probably benign |
0.00 |
R9497:Cobl
|
UTSW |
11 |
12,203,501 (GRCm39) |
missense |
probably benign |
0.00 |
R9501:Cobl
|
UTSW |
11 |
12,328,235 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Cobl
|
UTSW |
11 |
12,325,827 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cobl
|
UTSW |
11 |
12,319,645 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cobl
|
UTSW |
11 |
12,203,433 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATCATCAGCCTCTCTAGTGTTG -3'
(R):5'- AACCCCAGGAAATTGTGAGC -3'
Sequencing Primer
(F):5'- CTCTCTAGTGTTGTTATTCGAATGC -3'
(R):5'- AATCCACCCTGACTAGCTATATTATC -3'
|
Posted On |
2019-10-17 |