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, 2810012G08Rik, B230396K10Rik |
MMRRC Submission |
045688-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R7621 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62019210 bp (GRCm39)
|
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]
[ENSMUST00000202179]
[ENSMUST00000201723]
[ENSMUST00000202178]
[ENSMUST00000202389]
[ENSMUST00000202744]
[ENSMUST00000202905]
|
AlphaFold |
Q5SXY1 |
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 |
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 |
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: 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 |
Abca9 |
T |
A |
11: 110,051,359 (GRCm39) |
K112N |
probably benign |
Het |
Brwd1 |
A |
G |
16: 95,866,087 (GRCm39) |
S232P |
probably damaging |
Het |
Calm5 |
A |
T |
13: 3,904,629 (GRCm39) |
M108L |
possibly damaging |
Het |
Ces1g |
A |
T |
8: 94,055,094 (GRCm39) |
V201D |
probably damaging |
Het |
Cltc |
C |
A |
11: 86,598,312 (GRCm39) |
V1017L |
probably benign |
Het |
Cpt1c |
C |
T |
7: 44,616,516 (GRCm39) |
R245Q |
probably damaging |
Het |
Csrnp1 |
C |
A |
9: 119,806,158 (GRCm39) |
A39S |
probably benign |
Het |
Elf1 |
A |
G |
14: 79,808,322 (GRCm39) |
D258G |
possibly damaging |
Het |
Entrep1 |
A |
C |
19: 23,972,168 (GRCm39) |
S179A |
possibly damaging |
Het |
Glipr1l1 |
A |
T |
10: 111,896,300 (GRCm39) |
D29V |
probably benign |
Het |
Gm4340 |
T |
C |
10: 104,031,820 (GRCm39) |
V188A |
probably benign |
Het |
Gsdma2 |
T |
C |
11: 98,540,375 (GRCm39) |
M98T |
probably benign |
Het |
Hars1 |
A |
T |
18: 36,903,476 (GRCm39) |
D315E |
probably benign |
Het |
Hsph1 |
A |
C |
5: 149,555,540 (GRCm39) |
Y89D |
probably damaging |
Het |
Ighv11-2 |
T |
A |
12: 114,012,008 (GRCm39) |
D69V |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,995,528 (GRCm39) |
G438D |
possibly damaging |
Het |
Krt6a |
G |
T |
15: 101,600,187 (GRCm39) |
T355K |
possibly damaging |
Het |
Lce1m |
T |
C |
3: 92,925,177 (GRCm39) |
|
probably null |
Het |
Lmbrd1 |
A |
T |
1: 24,767,625 (GRCm39) |
|
probably null |
Het |
Lmtk3 |
A |
G |
7: 45,442,841 (GRCm39) |
E508G |
probably damaging |
Het |
Lrrc2 |
G |
A |
9: 110,809,899 (GRCm39) |
V312I |
probably benign |
Het |
Lyn |
A |
T |
4: 3,789,834 (GRCm39) |
K477* |
probably null |
Het |
Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
Or14c45 |
G |
A |
7: 86,176,280 (GRCm39) |
C105Y |
probably benign |
Het |
Or4f14d |
T |
C |
2: 111,960,926 (GRCm39) |
T77A |
probably benign |
Het |
Or55b3 |
G |
A |
7: 102,126,472 (GRCm39) |
R202C |
possibly damaging |
Het |
Or8c15 |
T |
C |
9: 38,120,447 (GRCm39) |
F31L |
probably benign |
Het |
Pgap6 |
C |
A |
17: 26,336,865 (GRCm39) |
P261Q |
probably benign |
Het |
Pkm |
T |
A |
9: 59,585,441 (GRCm39) |
C474* |
probably null |
Het |
Prr36 |
T |
A |
8: 4,263,150 (GRCm39) |
I839F |
unknown |
Het |
Qtrt2 |
A |
G |
16: 43,689,303 (GRCm39) |
|
probably null |
Het |
Ripk4 |
A |
T |
16: 97,547,125 (GRCm39) |
V379E |
probably damaging |
Het |
Rreb1 |
C |
A |
13: 38,133,042 (GRCm39) |
P304Q |
|
Het |
Saxo2 |
A |
T |
7: 82,297,625 (GRCm39) |
C5S |
possibly damaging |
Het |
Scart2 |
G |
A |
7: 139,876,742 (GRCm39) |
G711D |
probably damaging |
Het |
Sema5a |
C |
A |
15: 32,609,378 (GRCm39) |
T428N |
possibly damaging |
Het |
Setd5 |
C |
A |
6: 113,121,010 (GRCm39) |
P1073Q |
possibly damaging |
Het |
Sh2d5 |
T |
G |
4: 137,984,150 (GRCm39) |
C173G |
probably benign |
Het |
Slc4a10 |
T |
G |
2: 62,080,823 (GRCm39) |
V350G |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,106,743 (GRCm39) |
C15R |
probably damaging |
Het |
Smg7 |
A |
T |
1: 152,717,295 (GRCm39) |
F940Y |
possibly damaging |
Het |
Spata17 |
T |
A |
1: 186,854,833 (GRCm39) |
|
probably null |
Het |
Tbc1d1 |
A |
G |
5: 64,421,673 (GRCm39) |
D355G |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,894,426 (GRCm39) |
D807G |
probably benign |
Het |
Usp53 |
T |
C |
3: 122,754,934 (GRCm39) |
T174A |
probably benign |
Het |
Vmn2r52 |
A |
G |
7: 9,907,274 (GRCm39) |
Y151H |
probably benign |
Het |
Wdr12 |
G |
A |
1: 60,136,748 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Specc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Specc1
|
APN |
11 |
62,008,835 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01953:Specc1
|
APN |
11 |
62,009,122 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02244:Specc1
|
APN |
11 |
62,019,194 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02257:Specc1
|
APN |
11 |
62,009,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02512:Specc1
|
APN |
11 |
62,009,215 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03147:Specc1
|
UTSW |
11 |
62,009,108 (GRCm39) |
missense |
probably benign |
|
R0039:Specc1
|
UTSW |
11 |
61,920,195 (GRCm39) |
missense |
probably damaging |
0.97 |
R0114:Specc1
|
UTSW |
11 |
62,037,139 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0635:Specc1
|
UTSW |
11 |
62,009,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Specc1
|
UTSW |
11 |
62,047,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1604:Specc1
|
UTSW |
11 |
61,933,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R1717:Specc1
|
UTSW |
11 |
62,019,218 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1719:Specc1
|
UTSW |
11 |
62,019,218 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1739:Specc1
|
UTSW |
11 |
62,009,644 (GRCm39) |
nonsense |
probably null |
|
R1757:Specc1
|
UTSW |
11 |
62,010,110 (GRCm39) |
critical splice donor site |
probably null |
|
R1990:Specc1
|
UTSW |
11 |
61,920,120 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1991:Specc1
|
UTSW |
11 |
61,920,120 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2063:Specc1
|
UTSW |
11 |
62,009,122 (GRCm39) |
missense |
probably benign |
0.01 |
R2071:Specc1
|
UTSW |
11 |
62,008,701 (GRCm39) |
missense |
probably damaging |
0.98 |
R2245:Specc1
|
UTSW |
11 |
62,022,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R3415:Specc1
|
UTSW |
11 |
62,009,245 (GRCm39) |
missense |
probably benign |
0.29 |
R3831:Specc1
|
UTSW |
11 |
62,008,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R3890:Specc1
|
UTSW |
11 |
62,042,739 (GRCm39) |
missense |
probably benign |
0.00 |
R3891:Specc1
|
UTSW |
11 |
62,042,739 (GRCm39) |
missense |
probably benign |
0.00 |
R4367:Specc1
|
UTSW |
11 |
62,009,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R4489:Specc1
|
UTSW |
11 |
62,042,653 (GRCm39) |
splice site |
probably null |
|
R4580:Specc1
|
UTSW |
11 |
62,110,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R4852:Specc1
|
UTSW |
11 |
62,102,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R4930:Specc1
|
UTSW |
11 |
62,009,784 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5016:Specc1
|
UTSW |
11 |
62,009,783 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5416:Specc1
|
UTSW |
11 |
62,009,735 (GRCm39) |
missense |
probably benign |
0.00 |
R5650:Specc1
|
UTSW |
11 |
62,008,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6158:Specc1
|
UTSW |
11 |
62,008,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R6329:Specc1
|
UTSW |
11 |
62,047,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Specc1
|
UTSW |
11 |
62,047,418 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6395:Specc1
|
UTSW |
11 |
62,023,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R6653:Specc1
|
UTSW |
11 |
62,037,244 (GRCm39) |
missense |
probably damaging |
0.99 |
R6893:Specc1
|
UTSW |
11 |
62,023,279 (GRCm39) |
missense |
probably benign |
|
R6898:Specc1
|
UTSW |
11 |
62,009,162 (GRCm39) |
missense |
probably benign |
|
R7054:Specc1
|
UTSW |
11 |
62,008,604 (GRCm39) |
missense |
probably damaging |
0.96 |
R7294:Specc1
|
UTSW |
11 |
62,009,163 (GRCm39) |
missense |
probably benign |
0.01 |
R7376:Specc1
|
UTSW |
11 |
62,009,078 (GRCm39) |
missense |
probably benign |
0.06 |
R7560:Specc1
|
UTSW |
11 |
62,019,235 (GRCm39) |
critical splice donor site |
probably null |
|
R7605:Specc1
|
UTSW |
11 |
62,102,506 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7804:Specc1
|
UTSW |
11 |
62,096,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R7900:Specc1
|
UTSW |
11 |
62,110,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R8310:Specc1
|
UTSW |
11 |
62,023,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R8319:Specc1
|
UTSW |
11 |
62,009,501 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9081:Specc1
|
UTSW |
11 |
62,010,051 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9109:Specc1
|
UTSW |
11 |
62,102,464 (GRCm39) |
splice site |
probably null |
|
R9361:Specc1
|
UTSW |
11 |
62,037,144 (GRCm39) |
missense |
probably benign |
|
Z1177:Specc1
|
UTSW |
11 |
62,096,249 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1177:Specc1
|
UTSW |
11 |
62,009,593 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |