Incidental Mutation 'R7621:Specc1'
| ID | 589155 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Specc1
|
|---|
| Ensembl Gene |
ENSMUSG00000042331 |
|---|
| Gene Name | sperm antigen with calponin homology and coiled-coil domains 1 |
|---|
| Synonyms | Cytsb |
|---|
| MMRRC Submission |
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably non essential (E-score: 0.157)
|
|---|
| Stock # | R7621 (G1)
|
|---|
| Quality Score | 225.009 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 11 |
|---|
| Chromosomal Location | 61956763-62223013 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to G
at 62128384 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Asparagine to Serine
at position 603
(N603S)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144300
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049836]
[ENSMUST00000092415]
[ENSMUST00000108709]
[ENSMUST00000201015]
[ENSMUST00000201364]
[ENSMUST00000201624]
[ENSMUST00000201671]
[ENSMUST00000201723]
[ENSMUST00000202178]
[ENSMUST00000202179]
[ENSMUST00000202389]
[ENSMUST00000202744]
[ENSMUST00000202905]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049836
AA Change: N683S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092415
AA Change: N603S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: N603S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
79 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
236 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
374 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
440 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
844 |
N/A |
INTRINSIC |
|
CH
|
883 |
981 |
2.69e-16 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108709
AA Change: N683S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
924 |
N/A |
INTRINSIC |
|
CH
|
963 |
1061 |
2.69e-16 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201015
AA Change: N23S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
AA Change: N23S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
264 |
N/A |
INTRINSIC |
|
CH
|
303 |
401 |
1.4e-18 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201364
AA Change: N683S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
915 |
N/A |
INTRINSIC |
|
CH
|
954 |
1052 |
2.69e-16 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201624
AA Change: N683S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201671
AA Change: N683S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201723
AA Change: N603S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
AA Change: N603S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
79 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
236 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
374 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
440 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
693 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202178
AA Change: N683S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202179
AA Change: N603S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: N603S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
79 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
236 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
374 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
440 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
|
CH
|
874 |
972 |
2.69e-16 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202389
AA Change: N683S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
924 |
N/A |
INTRINSIC |
|
CH
|
963 |
1061 |
2.69e-16 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202744
AA Change: N23S
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331
AA Change: N23S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202905
AA Change: N683S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
924 |
N/A |
INTRINSIC |
|
CH
|
963 |
1061 |
2.69e-16 |
SMART |
|
|---|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
|---|
| Validation Efficiency |
100% (45/45) |
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830411N06Rik |
G |
A |
7: 140,296,829 |
G711D |
probably damaging |
Het |
| Abca9 |
T |
A |
11: 110,160,533 |
K112N |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 96,064,887 |
S232P |
probably damaging |
Het |
| Calm5 |
A |
T |
13: 3,854,629 |
M108L |
possibly damaging |
Het |
| Ces1g |
A |
T |
8: 93,328,466 |
V201D |
probably damaging |
Het |
| Cltc |
C |
A |
11: 86,707,486 |
V1017L |
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,967,092 |
R245Q |
probably damaging |
Het |
| Csrnp1 |
C |
A |
9: 119,977,092 |
A39S |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,570,882 |
D258G |
possibly damaging |
Het |
| Fam189a2 |
A |
C |
19: 23,994,804 |
S179A |
possibly damaging |
Het |
| Glipr1l1 |
A |
T |
10: 112,060,395 |
D29V |
probably benign |
Het |
| Gm4340 |
T |
C |
10: 104,195,959 |
V188A |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,649,549 |
M98T |
probably benign |
Het |
| Hars |
A |
T |
18: 36,770,423 |
D315E |
probably benign |
Het |
| Hsph1 |
A |
C |
5: 149,632,075 |
Y89D |
probably damaging |
Het |
| Ighv11-2 |
T |
A |
12: 114,048,388 |
D69V |
probably benign |
Het |
| Kirrel |
C |
T |
3: 87,088,221 |
G438D |
possibly damaging |
Het |
| Krt6a |
G |
T |
15: 101,691,752 |
T355K |
possibly damaging |
Het |
| Lce1m |
T |
C |
3: 93,017,870 |
|
probably null |
Het |
| Lmbrd1 |
A |
T |
1: 24,728,544 |
|
probably null |
Het |
| Lmtk3 |
A |
G |
7: 45,793,417 |
E508G |
probably damaging |
Het |
| Lrrc2 |
G |
A |
9: 110,980,831 |
V312I |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,789,834 |
K477* |
probably null |
Het |
| Nfe2l2 |
T |
C |
2: 75,679,413 |
D21G |
probably damaging |
Het |
| Olfr1316 |
T |
C |
2: 112,130,581 |
T77A |
probably benign |
Het |
| Olfr297 |
G |
A |
7: 86,527,072 |
C105Y |
probably benign |
Het |
| Olfr543 |
G |
A |
7: 102,477,265 |
R202C |
possibly damaging |
Het |
| Olfr893 |
T |
C |
9: 38,209,151 |
F31L |
probably benign |
Het |
| Pkm |
T |
A |
9: 59,678,158 |
C474* |
probably null |
Het |
| Prr36 |
T |
A |
8: 4,213,150 |
I839F |
unknown |
Het |
| Qtrt2 |
A |
G |
16: 43,868,940 |
|
probably null |
Het |
| Ripk4 |
A |
T |
16: 97,745,925 |
V379E |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 37,949,066 |
P304Q |
|
Het |
| Saxo2 |
A |
T |
7: 82,648,417 |
C5S |
possibly damaging |
Het |
| Sema5a |
C |
A |
15: 32,609,232 |
T428N |
possibly damaging |
Het |
| Setd5 |
C |
A |
6: 113,144,049 |
P1073Q |
possibly damaging |
Het |
| Sh2d5 |
T |
G |
4: 138,256,839 |
C173G |
probably benign |
Het |
| Slc4a10 |
T |
G |
2: 62,250,479 |
V350G |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,161,017 |
C15R |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,841,544 |
F940Y |
possibly damaging |
Het |
| Spata17 |
T |
A |
1: 187,122,636 |
|
probably null |
Het |
| Tbc1d1 |
A |
G |
5: 64,264,330 |
D355G |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,674,164 |
D807G |
probably benign |
Het |
| Tmem8 |
C |
A |
17: 26,117,891 |
P261Q |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,961,285 |
T174A |
probably benign |
Het |
| Vmn2r52 |
A |
G |
7: 10,173,347 |
Y151H |
probably benign |
Het |
| Wdr12 |
G |
A |
1: 60,097,589 |
|
probably benign |
Het |
|
|---|
| Other mutations in Specc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Specc1
|
APN |
11 |
62118009 |
missense |
probably benign |
0.02 |
|
IGL01953:Specc1
|
APN |
11 |
62118296 |
missense |
probably benign |
0.40 |
|
IGL02244:Specc1
|
APN |
11 |
62128368 |
missense |
probably benign |
0.41 |
|
IGL02257:Specc1
|
APN |
11 |
62118417 |
missense |
probably damaging |
1.00 |
|
IGL02512:Specc1
|
APN |
11 |
62118389 |
missense |
probably damaging |
1.00 |
|
IGL03147:Specc1
|
UTSW |
11 |
62118282 |
missense |
probably benign |
|
|
R0039:Specc1
|
UTSW |
11 |
62029369 |
missense |
probably damaging |
0.97 |
|
R0114:Specc1
|
UTSW |
11 |
62146313 |
missense |
possibly damaging |
0.92 |
|
R0635:Specc1
|
UTSW |
11 |
62118903 |
missense |
probably damaging |
1.00 |
|
R1514:Specc1
|
UTSW |
11 |
62156532 |
missense |
probably damaging |
1.00 |
|
R1604:Specc1
|
UTSW |
11 |
62043057 |
missense |
probably damaging |
1.00 |
|
R1717:Specc1
|
UTSW |
11 |
62128392 |
missense |
possibly damaging |
0.88 |
|
R1719:Specc1
|
UTSW |
11 |
62128392 |
missense |
possibly damaging |
0.88 |
|
R1739:Specc1
|
UTSW |
11 |
62118818 |
nonsense |
probably null |
|
|
R1757:Specc1
|
UTSW |
11 |
62119284 |
critical splice donor site |
probably null |
|
|
R1990:Specc1
|
UTSW |
11 |
62029294 |
missense |
possibly damaging |
0.87 |
|
R1991:Specc1
|
UTSW |
11 |
62029294 |
missense |
possibly damaging |
0.87 |
|
R2063:Specc1
|
UTSW |
11 |
62118296 |
missense |
probably benign |
0.01 |
|
R2071:Specc1
|
UTSW |
11 |
62117875 |
missense |
probably damaging |
0.98 |
|
R2245:Specc1
|
UTSW |
11 |
62131887 |
missense |
probably damaging |
1.00 |
|
R3415:Specc1
|
UTSW |
11 |
62118419 |
missense |
probably benign |
0.29 |
|
R3831:Specc1
|
UTSW |
11 |
62117967 |
missense |
probably damaging |
1.00 |
|
R3890:Specc1
|
UTSW |
11 |
62151913 |
missense |
probably benign |
0.00 |
|
R3891:Specc1
|
UTSW |
11 |
62151913 |
missense |
probably benign |
0.00 |
|
R4367:Specc1
|
UTSW |
11 |
62118530 |
missense |
probably damaging |
1.00 |
|
R4489:Specc1
|
UTSW |
11 |
62151827 |
splice site |
probably null |
|
|
R4580:Specc1
|
UTSW |
11 |
62219331 |
missense |
probably damaging |
1.00 |
|
R4852:Specc1
|
UTSW |
11 |
62211684 |
missense |
probably damaging |
1.00 |
|
R4930:Specc1
|
UTSW |
11 |
62118958 |
missense |
possibly damaging |
0.93 |
|
R5016:Specc1
|
UTSW |
11 |
62118957 |
missense |
possibly damaging |
0.92 |
|
R5416:Specc1
|
UTSW |
11 |
62118909 |
missense |
probably benign |
0.00 |
|
R5650:Specc1
|
UTSW |
11 |
62117967 |
missense |
probably damaging |
1.00 |
|
R6158:Specc1
|
UTSW |
11 |
62118124 |
missense |
probably damaging |
0.99 |
|
R6329:Specc1
|
UTSW |
11 |
62156553 |
missense |
probably damaging |
1.00 |
|
R6374:Specc1
|
UTSW |
11 |
62156592 |
missense |
possibly damaging |
0.93 |
|
R6395:Specc1
|
UTSW |
11 |
62132338 |
missense |
probably damaging |
1.00 |
|
R6653:Specc1
|
UTSW |
11 |
62146418 |
missense |
probably damaging |
0.99 |
|
R6893:Specc1
|
UTSW |
11 |
62132453 |
missense |
probably benign |
|
|
R6898:Specc1
|
UTSW |
11 |
62118336 |
missense |
probably benign |
|
|
R7054:Specc1
|
UTSW |
11 |
62117778 |
missense |
probably damaging |
0.96 |
|
R7294:Specc1
|
UTSW |
11 |
62118337 |
missense |
probably benign |
0.01 |
|
R7376:Specc1
|
UTSW |
11 |
62118252 |
missense |
probably benign |
0.06 |
|
R7560:Specc1
|
UTSW |
11 |
62128409 |
critical splice donor site |
probably null |
|
|
R7605:Specc1
|
UTSW |
11 |
62211680 |
missense |
possibly damaging |
0.91 |
|
R7804:Specc1
|
UTSW |
11 |
62205397 |
missense |
probably damaging |
0.99 |
|
R7900:Specc1
|
UTSW |
11 |
62219361 |
missense |
probably damaging |
1.00 |
|
R8310:Specc1
|
UTSW |
11 |
62132345 |
missense |
probably damaging |
1.00 |
|
R8319:Specc1
|
UTSW |
11 |
62118675 |
missense |
possibly damaging |
0.77 |
|
Z1177:Specc1
|
UTSW |
11 |
62118767 |
missense |
possibly damaging |
0.86 |
|
Z1177:Specc1
|
UTSW |
11 |
62205423 |
missense |
possibly damaging |
0.84 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- TCGTACCTGAAAGAAGTCTGTG -3'
(R):5'- GAAGCTGCACAGGTAGGTAC -3'
Sequencing Primer
(F):5'- GTCTGTGATCATCAAGCAGAAC -3'
(R):5'- GCTGCACAGGTAGGTACATCTAAC -3'
|
|---|
| Posted On | 2019-10-24 |
|---|
