Incidental Mutation 'R7376:Specc1'
ID |
572407 |
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 |
045459-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R7376 (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 62009078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 198
(I198K)
|
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 benign
Transcript: ENSMUST00000049836
AA Change: I278K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000063102 Gene: ENSMUSG00000042331 AA Change: I278K
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: ENSMUST00000092415
AA Change: I198K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000090071 Gene: ENSMUSG00000042331 AA Change: I198K
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: I278K
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000104349 Gene: ENSMUSG00000042331 AA Change: I278K
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 |
probably benign
Transcript: ENSMUST00000201364
AA Change: I278K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000143853 Gene: ENSMUSG00000042331 AA Change: I278K
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: I278K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000144659 Gene: ENSMUSG00000042331 AA Change: I278K
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: ENSMUST00000201671
AA Change: I278K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000144030 Gene: ENSMUSG00000042331 AA Change: I278K
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: ENSMUST00000202179
AA Change: I198K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000144300 Gene: ENSMUSG00000042331 AA Change: I198K
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: ENSMUST00000201723
AA Change: I198K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000144542 Gene: ENSMUSG00000042331 AA Change: I198K
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 benign
Transcript: ENSMUST00000202178
AA Change: I278K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000144161 Gene: ENSMUSG00000042331 AA Change: I278K
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: ENSMUST00000202389
AA Change: I278K
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144055 Gene: ENSMUSG00000042331 AA Change: I278K
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 |
probably benign
Transcript: ENSMUST00000202905
AA Change: I278K
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144311 Gene: ENSMUSG00000042331 AA Change: I278K
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: 98.9%
|
Validation Efficiency |
98% (60/61) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,241,118 (GRCm39) |
I994V |
probably benign |
Het |
Acan |
T |
G |
7: 78,738,055 (GRCm39) |
|
probably null |
Het |
Adamts12 |
G |
A |
15: 11,277,425 (GRCm39) |
V680I |
possibly damaging |
Het |
Adgrg7 |
T |
C |
16: 56,545,342 (GRCm39) |
I712V |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,942,597 (GRCm39) |
H1477R |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,599,088 (GRCm39) |
S1305P |
probably benign |
Het |
Banp |
T |
A |
8: 122,701,236 (GRCm39) |
M39K |
probably damaging |
Het |
Bbs10 |
A |
G |
10: 111,135,111 (GRCm39) |
T75A |
probably benign |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
Bltp3b |
G |
A |
10: 89,645,518 (GRCm39) |
G1197D |
probably damaging |
Het |
Brinp2 |
C |
T |
1: 158,078,938 (GRCm39) |
C295Y |
probably damaging |
Het |
Card11 |
C |
T |
5: 140,883,993 (GRCm39) |
V429I |
probably benign |
Het |
Cdca3 |
G |
A |
6: 124,809,538 (GRCm39) |
R184H |
probably benign |
Het |
Cep104 |
A |
G |
4: 154,067,509 (GRCm39) |
|
probably null |
Het |
Clspn |
A |
G |
4: 126,484,430 (GRCm39) |
K1196R |
possibly damaging |
Het |
Cntnap5b |
A |
G |
1: 99,894,994 (GRCm39) |
T89A |
possibly damaging |
Het |
Cpne9 |
A |
T |
6: 113,266,974 (GRCm39) |
I136L |
probably damaging |
Het |
Crat |
T |
A |
2: 30,296,477 (GRCm39) |
I330F |
probably damaging |
Het |
Ctbp2 |
G |
T |
7: 132,615,697 (GRCm39) |
Q413K |
possibly damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,151,238 (GRCm39) |
E1220G |
probably damaging |
Het |
Dap |
A |
G |
15: 31,235,985 (GRCm39) |
D41G |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,590,967 (GRCm39) |
I3287V |
probably benign |
Het |
Dsp |
A |
G |
13: 38,356,819 (GRCm39) |
H233R |
probably damaging |
Het |
Dst |
T |
C |
1: 34,231,770 (GRCm39) |
I3121T |
probably benign |
Het |
Espnl |
T |
G |
1: 91,250,036 (GRCm39) |
L61R |
probably damaging |
Het |
Evc2 |
T |
C |
5: 37,527,983 (GRCm39) |
S331P |
possibly damaging |
Het |
Gars1 |
A |
G |
6: 55,050,344 (GRCm39) |
E535G |
probably benign |
Het |
Hfm1 |
A |
G |
5: 107,043,084 (GRCm39) |
I650T |
possibly damaging |
Het |
Iyd |
T |
A |
10: 3,495,690 (GRCm39) |
I116N |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,553,792 (GRCm39) |
L1002S |
probably damaging |
Het |
Kifbp |
C |
T |
10: 62,394,843 (GRCm39) |
V600I |
possibly damaging |
Het |
Lgi1 |
G |
A |
19: 38,272,468 (GRCm39) |
G113D |
probably damaging |
Het |
Lgi2 |
G |
A |
5: 52,695,604 (GRCm39) |
R452C |
probably damaging |
Het |
Man2b2 |
T |
G |
5: 36,970,722 (GRCm39) |
N764T |
probably damaging |
Het |
Mrps18b |
A |
G |
17: 36,221,587 (GRCm39) |
I246T |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,426,287 (GRCm39) |
T4795A |
possibly damaging |
Het |
Mybl2 |
G |
A |
2: 162,924,513 (GRCm39) |
G627D |
possibly damaging |
Het |
Ndufb8 |
C |
T |
19: 44,543,794 (GRCm39) |
R16K |
probably benign |
Het |
Or5k17 |
A |
T |
16: 58,746,121 (GRCm39) |
V271E |
possibly damaging |
Het |
P4htm |
C |
T |
9: 108,457,991 (GRCm39) |
V335M |
probably damaging |
Het |
Pbx3 |
A |
G |
2: 34,094,889 (GRCm39) |
I249T |
probably damaging |
Het |
Plod3 |
G |
T |
5: 137,019,335 (GRCm39) |
V360L |
probably benign |
Het |
Podxl2 |
C |
T |
6: 88,826,632 (GRCm39) |
D161N |
probably benign |
Het |
Polr1b |
G |
T |
2: 128,960,993 (GRCm39) |
V651L |
probably benign |
Het |
Prr14 |
T |
C |
7: 127,075,749 (GRCm39) |
S586P |
probably benign |
Het |
Pum3 |
C |
T |
19: 27,371,728 (GRCm39) |
G575D |
probably benign |
Het |
Rnf157 |
C |
A |
11: 116,251,192 (GRCm39) |
A111S |
probably benign |
Het |
Robo3 |
A |
G |
9: 37,344,212 (GRCm39) |
L29P |
probably damaging |
Het |
Smarca5 |
T |
C |
8: 81,452,680 (GRCm39) |
N342S |
probably damaging |
Het |
Tmem177 |
A |
T |
1: 119,837,744 (GRCm39) |
*312R |
probably null |
Het |
Tom1l2 |
A |
T |
11: 60,152,026 (GRCm39) |
M172K |
probably benign |
Het |
Tsc22d4 |
T |
C |
5: 137,756,414 (GRCm39) |
V3A |
unknown |
Het |
Vmn1r128 |
G |
T |
7: 21,083,668 (GRCm39) |
G124V |
probably damaging |
Het |
Vmn1r15 |
T |
C |
6: 57,235,342 (GRCm39) |
I70T |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,844,631 (GRCm39) |
T665A |
probably damaging |
Het |
Vmn2r83 |
T |
C |
10: 79,314,790 (GRCm39) |
F346S |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,910,691 (GRCm39) |
D694E |
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 |
|
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 |
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'- TCCCCAGAAAGTGATGCAC -3'
(R):5'- AAAGGGTTGCTAGTGGCTGAC -3'
Sequencing Primer
(F):5'- GTGATGCACAGCCTTTGATAAGAACC -3'
(R):5'- TAGTGGCTGACAGGGGC -3'
|
Posted On |
2019-09-13 |