Incidental Mutation 'R1719:Specc1'
ID |
191310 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R1719 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62019218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 686
(I686V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049836]
[ENSMUST00000092415]
[ENSMUST00000108709]
[ENSMUST00000201015]
[ENSMUST00000201364]
[ENSMUST00000201624]
[ENSMUST00000201723]
[ENSMUST00000202178]
[ENSMUST00000202905]
[ENSMUST00000202179]
[ENSMUST00000202389]
[ENSMUST00000201671]
[ENSMUST00000202744]
|
AlphaFold |
Q5SXY1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049836
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000063102 Gene: ENSMUSG00000042331 AA Change: I686V
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: I606V
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000090071 Gene: ENSMUSG00000042331 AA Change: I606V
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 |
probably benign
Transcript: ENSMUST00000108709
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104349 Gene: ENSMUSG00000042331 AA Change: I686V
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
AA Change: I26V
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144174 Gene: ENSMUSG00000042331 AA Change: I26V
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: I686V
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143853 Gene: ENSMUSG00000042331 AA Change: I686V
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 benign
Transcript: ENSMUST00000201624
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144659 Gene: ENSMUSG00000042331 AA Change: I686V
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: ENSMUST00000201723
AA Change: I606V
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144542 Gene: ENSMUSG00000042331 AA Change: I606V
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: I686V
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144161 Gene: ENSMUSG00000042331 AA Change: I686V
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 benign
Transcript: ENSMUST00000202905
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144311 Gene: ENSMUSG00000042331 AA Change: I686V
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: ENSMUST00000202179
AA Change: I606V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000144300 Gene: ENSMUSG00000042331 AA Change: I606V
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 benign
Transcript: ENSMUST00000202389
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144055 Gene: ENSMUSG00000042331 AA Change: I686V
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: ENSMUST00000201671
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144030 Gene: ENSMUSG00000042331 AA Change: I686V
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 benign
Transcript: ENSMUST00000202744
AA Change: I26V
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000144483 Gene: ENSMUSG00000042331 AA Change: I26V
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0790 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.3%
|
Validation Efficiency |
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
A |
T |
19: 31,904,526 (GRCm39) |
K263M |
probably damaging |
Het |
Adam26a |
G |
A |
8: 44,023,073 (GRCm39) |
T139M |
possibly damaging |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Akap9 |
C |
T |
5: 4,007,645 (GRCm39) |
Q238* |
probably null |
Het |
Ankrd6 |
A |
T |
4: 32,828,774 (GRCm39) |
V85E |
probably damaging |
Het |
Ap2b1 |
C |
A |
11: 83,215,430 (GRCm39) |
P125T |
probably damaging |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Cblc |
A |
T |
7: 19,524,399 (GRCm39) |
D280E |
probably benign |
Het |
Cdk11b |
T |
C |
4: 155,732,854 (GRCm39) |
|
probably benign |
Het |
Cela2a |
G |
T |
4: 141,545,257 (GRCm39) |
F239L |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,463,828 (GRCm39) |
C342S |
probably benign |
Het |
Clca4a |
C |
A |
3: 144,669,516 (GRCm39) |
W345L |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,808,492 (GRCm39) |
D852G |
unknown |
Het |
Cyp4a32 |
T |
C |
4: 115,468,505 (GRCm39) |
V329A |
possibly damaging |
Het |
Dcaf8 |
C |
T |
1: 172,003,062 (GRCm39) |
P287S |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,067,704 (GRCm39) |
D2654E |
probably damaging |
Het |
Dpep1 |
A |
T |
8: 123,927,486 (GRCm39) |
I347F |
possibly damaging |
Het |
Dtnb |
T |
A |
12: 3,693,936 (GRCm39) |
Y56* |
probably null |
Het |
Duox1 |
T |
C |
2: 122,169,125 (GRCm39) |
Y1182H |
possibly damaging |
Het |
Dusp10 |
T |
A |
1: 183,769,422 (GRCm39) |
S129R |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,219,532 (GRCm39) |
I137V |
probably benign |
Het |
Epcam |
G |
A |
17: 87,949,556 (GRCm39) |
R173Q |
probably damaging |
Het |
Ephb3 |
A |
G |
16: 21,039,400 (GRCm39) |
E384G |
probably damaging |
Het |
Exosc10 |
A |
T |
4: 148,652,960 (GRCm39) |
D525V |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,840,227 (GRCm39) |
T2006S |
possibly damaging |
Het |
Fbxw21 |
T |
A |
9: 108,977,242 (GRCm39) |
T156S |
possibly damaging |
Het |
Fcrl5 |
A |
G |
3: 87,364,704 (GRCm39) |
E568G |
probably damaging |
Het |
Fmn2 |
C |
T |
1: 174,436,024 (GRCm39) |
|
probably benign |
Het |
Fut9 |
A |
G |
4: 25,619,744 (GRCm39) |
F357L |
possibly damaging |
Het |
Garre1 |
A |
T |
7: 33,947,631 (GRCm39) |
M459K |
probably damaging |
Het |
Gas2l1 |
G |
A |
11: 5,014,266 (GRCm39) |
H65Y |
probably damaging |
Het |
Gjd2 |
A |
T |
2: 113,843,614 (GRCm39) |
M1K |
probably null |
Het |
Hdgfl3 |
T |
C |
7: 81,549,432 (GRCm39) |
Y149C |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,244,733 (GRCm39) |
V730A |
probably damaging |
Het |
Inpp4a |
A |
T |
1: 37,437,880 (GRCm39) |
S223C |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Knl1 |
T |
A |
2: 118,902,219 (GRCm39) |
W1307R |
probably benign |
Het |
Kpna3 |
A |
G |
14: 61,624,926 (GRCm39) |
L139P |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,612,929 (GRCm39) |
|
probably null |
Het |
Lin54 |
G |
A |
5: 100,633,108 (GRCm39) |
P192L |
possibly damaging |
Het |
Lpo |
T |
A |
11: 87,700,018 (GRCm39) |
|
probably null |
Het |
Lrrc37 |
T |
A |
11: 103,507,897 (GRCm39) |
|
probably benign |
Het |
Lrrd1 |
T |
G |
5: 3,900,483 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
A |
12: 13,610,978 (GRCm39) |
|
probably null |
Het |
Nemp1 |
G |
A |
10: 127,532,117 (GRCm39) |
G341D |
probably damaging |
Het |
Nrp1 |
T |
C |
8: 129,152,366 (GRCm39) |
F192L |
probably damaging |
Het |
Nufip2 |
T |
A |
11: 77,583,916 (GRCm39) |
V610E |
probably damaging |
Het |
Nup160 |
T |
G |
2: 90,530,780 (GRCm39) |
Y479* |
probably null |
Het |
Oas1d |
A |
T |
5: 121,058,025 (GRCm39) |
D323V |
possibly damaging |
Het |
Or10ak14 |
A |
G |
4: 118,610,797 (GRCm39) |
W315R |
possibly damaging |
Het |
Or14j1 |
A |
G |
17: 38,146,244 (GRCm39) |
D118G |
possibly damaging |
Het |
Or4c3d |
T |
C |
2: 89,882,128 (GRCm39) |
Y180C |
probably damaging |
Het |
Or52e4 |
C |
A |
7: 104,706,001 (GRCm39) |
H183N |
probably damaging |
Het |
Or5ac22 |
T |
A |
16: 59,135,069 (GRCm39) |
R234* |
probably null |
Het |
Or8b3 |
G |
A |
9: 38,314,550 (GRCm39) |
V127M |
possibly damaging |
Het |
Or8c9 |
A |
T |
9: 38,241,803 (GRCm39) |
T307S |
probably benign |
Het |
Pcm1 |
T |
A |
8: 41,766,396 (GRCm39) |
M1567K |
possibly damaging |
Het |
Pdxk |
A |
G |
10: 78,279,730 (GRCm39) |
V215A |
probably benign |
Het |
Phf12 |
T |
A |
11: 77,914,427 (GRCm39) |
L74Q |
probably damaging |
Het |
Plcg1 |
A |
G |
2: 160,595,663 (GRCm39) |
E537G |
probably null |
Het |
Plxna2 |
C |
T |
1: 194,326,678 (GRCm39) |
P204L |
possibly damaging |
Het |
Ppp3cb |
T |
G |
14: 20,574,131 (GRCm39) |
M236L |
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,772,026 (GRCm39) |
S55T |
probably damaging |
Het |
Rbm5 |
T |
C |
9: 107,621,112 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
A |
G |
8: 126,171,274 (GRCm39) |
S1403P |
probably damaging |
Het |
Sis |
C |
T |
3: 72,872,937 (GRCm39) |
C67Y |
probably damaging |
Het |
Speg |
G |
A |
1: 75,394,507 (GRCm39) |
E1739K |
probably benign |
Het |
Sprtn |
C |
A |
8: 125,628,372 (GRCm39) |
H154Q |
probably damaging |
Het |
St7l |
A |
G |
3: 104,778,303 (GRCm39) |
T147A |
probably benign |
Het |
Stab1 |
G |
A |
14: 30,867,985 (GRCm39) |
Q1630* |
probably null |
Het |
Stpg2 |
A |
G |
3: 138,937,960 (GRCm39) |
D173G |
probably benign |
Het |
Tcf20 |
G |
A |
15: 82,736,978 (GRCm39) |
T1491I |
probably benign |
Het |
Themis2 |
A |
T |
4: 132,516,960 (GRCm39) |
I180N |
possibly damaging |
Het |
Timd5 |
T |
C |
11: 46,417,121 (GRCm39) |
L13P |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,638,340 (GRCm39) |
V13980A |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,575,978 (GRCm39) |
V24972M |
probably damaging |
Het |
Usp5 |
A |
T |
6: 124,800,423 (GRCm39) |
M286K |
possibly damaging |
Het |
Vmn2r22 |
G |
A |
6: 123,614,802 (GRCm39) |
R263C |
possibly damaging |
Het |
Vmn2r71 |
T |
G |
7: 85,270,435 (GRCm39) |
C534G |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,214,202 (GRCm39) |
S1460N |
possibly damaging |
Het |
Zfp445 |
G |
A |
9: 122,681,707 (GRCm39) |
P745S |
probably damaging |
Het |
Zfp957 |
C |
T |
14: 79,451,436 (GRCm39) |
G121D |
probably damaging |
Het |
Zscan4f |
A |
G |
7: 11,135,254 (GRCm39) |
E220G |
possibly 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 |
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 |
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'- GCAAGTCTTCTACCGACCTGTGAG -3'
(R):5'- TCCCAAATGCACTGCCTCTTTCAAG -3'
Sequencing Primer
(F):5'- AGAGTGGTtttttgtttttgtttttg -3'
(R):5'- GCACTGCCTCTTTCAAGAGTTG -3'
|
Posted On |
2014-05-14 |