Incidental Mutation 'R4580:Specc1'
| ID |
343610 |
| 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 |
041599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R4580 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62110157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1054
(V1054E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092415]
[ENSMUST00000108709]
[ENSMUST00000201015]
[ENSMUST00000201364]
[ENSMUST00000202179]
[ENSMUST00000202389]
[ENSMUST00000202905]
|
| AlphaFold |
Q5SXY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092415
AA Change: V974E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: V974E
| 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 damaging
Transcript: ENSMUST00000108709
AA Change: V1054E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: V1054E
| 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 damaging
Transcript: ENSMUST00000201015
AA Change: V394E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
AA Change: V394E
| 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: V1045E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: V1045E
| 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: ENSMUST00000202179
AA Change: V965E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: V965E
| 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: ENSMUST00000202389
AA Change: V1054E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: V1054E
| 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 damaging
Transcript: ENSMUST00000202905
AA Change: V1054E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: V1054E
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
C |
11: 69,791,237 (GRCm39) |
Y114C |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,799,558 (GRCm39) |
S556P |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,269 (GRCm39) |
N91D |
probably benign |
Het |
| BC005537 |
G |
T |
13: 24,987,394 (GRCm39) |
A11S |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,084,174 (GRCm39) |
T3864S |
probably benign |
Het |
| Bub1 |
A |
C |
2: 127,671,596 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,437,136 (GRCm39) |
T1758A |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,591,897 (GRCm39) |
L594P |
probably damaging |
Het |
| Cobll1 |
C |
T |
2: 64,981,417 (GRCm39) |
V90I |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,271,875 (GRCm39) |
V463A |
probably benign |
Het |
| Cpeb4 |
T |
A |
11: 31,877,757 (GRCm39) |
|
probably null |
Het |
| Creb5 |
G |
A |
6: 53,581,519 (GRCm39) |
M172I |
possibly damaging |
Het |
| Cyp4a32 |
T |
C |
4: 115,460,126 (GRCm39) |
|
silent |
Het |
| Dnah8 |
T |
A |
17: 30,881,026 (GRCm39) |
S588T |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,840,751 (GRCm39) |
Y669C |
probably damaging |
Het |
| Esd |
T |
C |
14: 74,979,517 (GRCm39) |
V120A |
possibly damaging |
Het |
| Fbxo5 |
T |
C |
10: 5,755,255 (GRCm39) |
|
probably null |
Het |
| Gm4922 |
T |
C |
10: 18,659,432 (GRCm39) |
D430G |
probably benign |
Het |
| Golga4 |
C |
A |
9: 118,386,327 (GRCm39) |
Q1150K |
probably benign |
Het |
| Grb14 |
T |
C |
2: 64,783,947 (GRCm39) |
N60S |
probably benign |
Het |
| Grk4 |
A |
G |
5: 34,818,325 (GRCm39) |
N2S |
probably damaging |
Het |
| Henmt1 |
T |
A |
3: 108,850,081 (GRCm39) |
S21R |
probably benign |
Het |
| Ifngr2 |
A |
G |
16: 91,354,906 (GRCm39) |
K113E |
probably benign |
Het |
| Ighv15-2 |
T |
A |
12: 114,528,590 (GRCm39) |
T15S |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,395,287 (GRCm39) |
S529P |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,200,957 (GRCm39) |
N51S |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,599 (GRCm39) |
E773G |
possibly damaging |
Het |
| Lrfn3 |
A |
T |
7: 30,059,467 (GRCm39) |
C253S |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,517,832 (GRCm39) |
V130A |
possibly damaging |
Het |
| Marchf11 |
A |
T |
15: 26,311,189 (GRCm39) |
I222F |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,873,766 (GRCm39) |
Y1699* |
probably null |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,979,529 (GRCm39) |
V160E |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,885,388 (GRCm39) |
S88P |
possibly damaging |
Het |
| Myl2 |
A |
T |
5: 122,244,801 (GRCm39) |
H157L |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,767,779 (GRCm39) |
N284S |
probably damaging |
Het |
| Nphp1 |
A |
G |
2: 127,610,089 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,609,323 (GRCm39) |
|
probably null |
Het |
| Nt5c3b |
G |
T |
11: 100,323,885 (GRCm39) |
F134L |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,001,544 (GRCm39) |
Q4L |
probably benign |
Het |
| Otog |
A |
G |
7: 45,937,225 (GRCm39) |
R1645G |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,249,830 (GRCm39) |
I523M |
probably benign |
Het |
| Pcdhb7 |
T |
A |
18: 37,475,188 (GRCm39) |
L108Q |
probably damaging |
Het |
| Pdp2 |
C |
A |
8: 105,321,576 (GRCm39) |
T475K |
probably damaging |
Het |
| Pgbd1 |
G |
C |
13: 21,612,499 (GRCm39) |
P113A |
probably benign |
Het |
| Plk5 |
C |
T |
10: 80,196,301 (GRCm39) |
H291Y |
possibly damaging |
Het |
| Pmpca |
G |
T |
2: 26,283,347 (GRCm39) |
S382I |
probably damaging |
Het |
| Prl3b1 |
A |
G |
13: 27,433,450 (GRCm39) |
T202A |
possibly damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,979,845 (GRCm39) |
T317S |
possibly damaging |
Het |
| Ptprc |
C |
T |
1: 137,998,989 (GRCm39) |
M1020I |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,471 (GRCm39) |
Y393H |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,283,717 (GRCm39) |
L482P |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,403,311 (GRCm39) |
T1984I |
probably benign |
Het |
| Slc17a1 |
T |
C |
13: 24,071,960 (GRCm39) |
Y393H |
probably damaging |
Het |
| Slc9a3 |
C |
T |
13: 74,307,005 (GRCm39) |
R377* |
probably null |
Het |
| Slitrk3 |
A |
G |
3: 72,958,539 (GRCm39) |
S78P |
probably damaging |
Het |
| Smim35 |
G |
T |
9: 45,155,426 (GRCm39) |
|
probably null |
Het |
| Tbc1d4 |
T |
C |
14: 101,696,219 (GRCm39) |
T847A |
probably benign |
Het |
| Tcf7l2 |
G |
A |
19: 55,907,468 (GRCm39) |
G343R |
probably damaging |
Het |
| Tex36 |
A |
C |
7: 133,189,111 (GRCm39) |
Y154D |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,576,580 (GRCm39) |
M57K |
probably null |
Het |
| Trav6-4 |
T |
C |
14: 53,692,156 (GRCm39) |
Y85H |
probably damaging |
Het |
| Trim30d |
A |
G |
7: 104,121,765 (GRCm39) |
Y327H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,781,740 (GRCm39) |
V1056A |
probably benign |
Het |
| Usp32 |
C |
A |
11: 84,949,953 (GRCm39) |
|
probably null |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,136 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,799,982 (GRCm39) |
T787A |
possibly damaging |
Het |
| Vps39 |
A |
T |
2: 120,169,814 (GRCm39) |
I246N |
probably benign |
Het |
| Xab2 |
T |
C |
8: 3,660,162 (GRCm39) |
D855G |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,991,265 (GRCm39) |
C758S |
possibly damaging |
Het |
| Zfp62 |
A |
G |
11: 49,107,099 (GRCm39) |
I397V |
possibly damaging |
Het |
| Zscan4d |
A |
G |
7: 10,896,435 (GRCm39) |
S312P |
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 |
|
|
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'- CTGTACCTTGACTCCTGGTG -3'
(R):5'- CATAGGCTCCAGGCATGTTG -3'
Sequencing Primer
(F):5'- ACCTTGACTCCTGGTGGTAGAG -3'
(R):5'- CTCTGCCTCTCGATGGAGTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation