Incidental Mutation 'R7054:Specc1'
| ID |
547791 |
| 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 |
045151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R7054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62008604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 40
(V40E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144542
(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: V120E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: V120E
| 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: ENSMUST00000092415
AA Change: V40E
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: V40E
| 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: V120E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: V120E
| 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 |
probably benign
Transcript: ENSMUST00000201015
|
| SMART Domains |
Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
| 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 |
possibly damaging
Transcript: ENSMUST00000201364
AA Change: V120E
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: V120E
| 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: V120E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: V120E
| 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: V120E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: V120E
| 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: V40E
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: V40E
| 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: V40E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
AA Change: V40E
| 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 |
possibly damaging
Transcript: ENSMUST00000202178
AA Change: V120E
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: V120E
| 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: V120E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: V120E
| 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 |
probably benign
Transcript: ENSMUST00000202744
|
| SMART Domains |
Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202905
AA Change: V120E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: V120E
| 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: 99.0%
|
| Validation Efficiency |
94% (67/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
A |
4: 88,786,486 (GRCm39) |
H44L |
unknown |
Het |
| Abcc3 |
T |
C |
11: 94,256,051 (GRCm39) |
K478R |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,736,952 (GRCm39) |
|
probably benign |
Het |
| Apod |
A |
G |
16: 31,129,950 (GRCm39) |
V2A |
probably benign |
Het |
| Armh4 |
C |
A |
14: 50,011,155 (GRCm39) |
S184I |
probably damaging |
Het |
| Aspg |
T |
A |
12: 112,092,824 (GRCm39) |
D530E |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,878 (GRCm38) |
T855S |
probably benign |
Het |
| Blmh |
G |
C |
11: 76,859,451 (GRCm39) |
G351R |
probably damaging |
Het |
| Cc2d2a |
C |
T |
5: 43,857,321 (GRCm39) |
R454* |
probably null |
Het |
| Cenpp |
T |
C |
13: 49,619,233 (GRCm39) |
E188G |
probably damaging |
Het |
| Cimip3 |
A |
G |
17: 47,748,114 (GRCm39) |
|
probably null |
Het |
| Creg2 |
T |
C |
1: 39,662,376 (GRCm39) |
E252G |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,622,857 (GRCm39) |
Y636C |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,614,835 (GRCm39) |
I36T |
probably benign |
Het |
| Eed |
A |
G |
7: 89,613,935 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,353 (GRCm39) |
D351G |
unknown |
Het |
| Fra10ac1 |
C |
T |
19: 38,212,567 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
A |
7: 97,623,136 (GRCm39) |
I249N |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,676,423 (GRCm39) |
V600D |
probably null |
Het |
| Gm13889 |
A |
T |
2: 93,787,459 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
T |
A |
14: 43,813,327 (GRCm39) |
N188Y |
|
Het |
| Gm3327 |
T |
C |
14: 44,363,732 (GRCm39) |
F112S |
|
Het |
| H2-Ab1 |
T |
C |
17: 34,482,316 (GRCm39) |
S11P |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,763,000 (GRCm39) |
S522P |
unknown |
Het |
| Hfm1 |
T |
C |
5: 107,043,909 (GRCm39) |
T576A |
probably benign |
Het |
| Hoxa1 |
A |
G |
6: 52,135,180 (GRCm39) |
S8P |
probably damaging |
Het |
| Hoxd13 |
A |
G |
2: 74,499,369 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ifih1 |
T |
A |
2: 62,440,859 (GRCm39) |
I485L |
probably benign |
Het |
| Ift52 |
G |
A |
2: 162,871,716 (GRCm39) |
V183M |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,161,658 (GRCm39) |
V410A |
possibly damaging |
Het |
| Il22ra1 |
G |
A |
4: 135,478,473 (GRCm39) |
V515I |
probably benign |
Het |
| Klk1b3 |
A |
T |
7: 43,850,863 (GRCm39) |
I132F |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,305,448 (GRCm39) |
T206A |
possibly damaging |
Het |
| Llph |
A |
T |
10: 120,067,240 (GRCm39) |
|
probably benign |
Het |
| Lrrc26 |
T |
A |
2: 25,180,087 (GRCm39) |
D29E |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,007,191 (GRCm39) |
|
probably null |
Het |
| Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,055,792 (GRCm39) |
V89A |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,393,534 (GRCm39) |
T2899I |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 126,186,449 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,275,619 (GRCm39) |
D530G |
probably null |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,114,775 (GRCm39) |
M47K |
probably benign |
Het |
| Or56a3b |
C |
T |
7: 104,771,170 (GRCm39) |
R169* |
probably null |
Het |
| Pax4 |
A |
G |
6: 28,446,322 (GRCm39) |
I57T |
probably damaging |
Het |
| Peg12 |
T |
C |
7: 62,113,711 (GRCm39) |
I129V |
possibly damaging |
Het |
| Pex6 |
G |
A |
17: 47,031,447 (GRCm39) |
A416T |
probably benign |
Het |
| Pgghg |
G |
A |
7: 140,524,631 (GRCm39) |
R326H |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,519,366 (GRCm39) |
M21L |
probably benign |
Het |
| Polh |
A |
T |
17: 46,509,642 (GRCm39) |
W64R |
probably benign |
Het |
| Rassf7 |
T |
A |
7: 140,797,556 (GRCm39) |
H256Q |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,265,258 (GRCm39) |
M1184T |
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,299,436 (GRCm39) |
E936D |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,283,079 (GRCm39) |
A769T |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,617,974 (GRCm39) |
T440S |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,201,234 (GRCm39) |
S191C |
possibly damaging |
Het |
| Timm22 |
A |
G |
11: 76,298,071 (GRCm39) |
E14G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,022,318 (GRCm39) |
D905E |
probably damaging |
Het |
| Trav7-5 |
T |
C |
14: 53,768,756 (GRCm39) |
L108P |
probably damaging |
Het |
| Ttc9b |
A |
G |
7: 27,353,667 (GRCm39) |
T106A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,545,012 (GRCm39) |
S32697G |
probably damaging |
Het |
| Usp17la |
T |
G |
7: 104,510,514 (GRCm39) |
L373R |
probably benign |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,427 (GRCm39) |
N73S |
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,051 (GRCm39) |
T173A |
possibly damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,182 (GRCm39) |
V243A |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,800,569 (GRCm39) |
D591V |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,559,227 (GRCm39) |
S379P |
probably benign |
Het |
| Zfp870 |
T |
C |
17: 33,102,456 (GRCm39) |
Y292C |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,229,786 (GRCm39) |
N246K |
possibly damaging |
Het |
| Zp1 |
G |
A |
19: 10,896,104 (GRCm39) |
T207M |
probably damaging |
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 |
|
|
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 |
|
R7621:Specc1
|
UTSW |
11 |
62,019,210 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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'- AGAGTGACAGCCATAGCATC -3'
(R):5'- AGTTCACTTCGAAGCCTGTTG -3'
Sequencing Primer
(F):5'- GAGTGACAGCCATAGCATCATCTATG -3'
(R):5'- CGAAGCCTGTTGATTTCACTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation