Incidental Mutation 'R6374:Specc1'
| ID |
513708 |
| 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 |
044524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R6374 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 62047418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 849
(T849I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092415]
[ENSMUST00000108709]
[ENSMUST00000201015]
[ENSMUST00000201364]
[ENSMUST00000202179]
[ENSMUST00000202389]
[ENSMUST00000202905]
|
| AlphaFold |
Q5SXY1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092415
AA Change: T849I
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: T849I
| 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: T929I
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: T929I
| 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: T269I
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
AA Change: T269I
| 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: T920I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: T920I
| 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: ENSMUST00000202179
AA Change: T840I
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: T840I
| 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: T929I
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: T929I
| 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: ENSMUST00000202905
AA Change: T929I
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: T929I
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| Validation Efficiency |
99% (75/76) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
C |
2: 151,314,800 (GRCm39) |
S293A |
possibly damaging |
Het |
| 5430401F13Rik |
A |
T |
6: 131,529,892 (GRCm39) |
Q162L |
unknown |
Het |
| Abca8a |
A |
T |
11: 109,974,216 (GRCm39) |
Y239* |
probably null |
Het |
| Aox3 |
T |
C |
1: 58,211,320 (GRCm39) |
I959T |
probably benign |
Het |
| Atad2b |
T |
C |
12: 5,068,002 (GRCm39) |
V1000A |
probably damaging |
Het |
| Atic |
C |
T |
1: 71,604,100 (GRCm39) |
T221M |
probably damaging |
Het |
| Atp1a2 |
C |
T |
1: 172,116,942 (GRCm39) |
R225H |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,004,657 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
T |
2: 158,113,974 (GRCm39) |
T291S |
probably damaging |
Het |
| Ccdc170 |
C |
T |
10: 4,499,746 (GRCm39) |
Q556* |
probably null |
Het |
| Cd3e |
G |
A |
9: 44,920,661 (GRCm39) |
L12F |
probably benign |
Het |
| Cdc42ep1 |
A |
T |
15: 78,731,649 (GRCm39) |
R31S |
probably damaging |
Het |
| Cyp21a1 |
G |
T |
17: 35,023,110 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
A |
G |
14: 7,974,115 (GRCm38) |
M192T |
probably damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,341 (GRCm39) |
H330Q |
possibly damaging |
Het |
| Enah |
T |
C |
1: 181,751,145 (GRCm39) |
E232G |
unknown |
Het |
| Etnppl |
C |
T |
3: 130,414,342 (GRCm39) |
T73I |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,400,189 (GRCm39) |
I305F |
probably benign |
Het |
| Galnt15 |
T |
A |
14: 31,780,116 (GRCm39) |
I471N |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,750,021 (GRCm39) |
N567K |
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,924,080 (GRCm39) |
Q435R |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hao1 |
T |
G |
2: 134,365,024 (GRCm39) |
D201A |
probably benign |
Het |
| Heg1 |
T |
C |
16: 33,547,499 (GRCm39) |
L786P |
possibly damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,357,303 (GRCm39) |
C238S |
possibly damaging |
Het |
| Hrg |
A |
G |
16: 22,779,742 (GRCm39) |
Y340C |
probably damaging |
Het |
| Kyat3 |
A |
T |
3: 142,443,998 (GRCm39) |
I411F |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,543,549 (GRCm39) |
Y202H |
probably damaging |
Het |
| Nags |
T |
C |
11: 102,037,337 (GRCm39) |
C143R |
possibly damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,263,076 (GRCm39) |
N453D |
probably damaging |
Het |
| Nup35 |
G |
T |
2: 80,488,730 (GRCm39) |
M322I |
probably benign |
Het |
| Oprl1 |
T |
C |
2: 181,357,721 (GRCm39) |
V69A |
probably damaging |
Het |
| Or51v14 |
A |
G |
7: 103,261,128 (GRCm39) |
L144P |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,215 (GRCm39) |
Y265F |
probably damaging |
Het |
| Pcsk6 |
C |
T |
7: 65,629,903 (GRCm39) |
P343L |
possibly damaging |
Het |
| Peak1 |
C |
A |
9: 56,164,950 (GRCm39) |
D993Y |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,627,758 (GRCm39) |
Y1383C |
probably damaging |
Het |
| Ppme1 |
A |
G |
7: 99,990,272 (GRCm39) |
S226P |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,213,325 (GRCm39) |
C127Y |
probably damaging |
Het |
| Ptpn6 |
A |
T |
6: 124,709,532 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
C |
5: 22,285,712 (GRCm39) |
E419G |
probably benign |
Het |
| Rnf32 |
C |
T |
5: 29,430,266 (GRCm39) |
Q362* |
probably null |
Het |
| Sbspon |
T |
C |
1: 15,953,887 (GRCm39) |
D131G |
probably benign |
Het |
| Scyl3 |
T |
C |
1: 163,776,783 (GRCm39) |
S392P |
probably benign |
Het |
| Shtn1 |
T |
A |
19: 59,026,728 (GRCm39) |
D121V |
possibly damaging |
Het |
| Sin3a |
A |
G |
9: 57,024,765 (GRCm39) |
T1042A |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,171,369 (GRCm39) |
V1371D |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,055,668 (GRCm39) |
V584A |
possibly damaging |
Het |
| Smc6 |
T |
A |
12: 11,355,874 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
A |
10: 82,124,731 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,041,734 (GRCm39) |
L1368H |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,187,959 (GRCm39) |
E89G |
possibly damaging |
Het |
| Strbp |
A |
G |
2: 37,493,020 (GRCm39) |
V422A |
probably damaging |
Het |
| Sult6b1 |
G |
T |
17: 79,214,360 (GRCm39) |
T21K |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,065,940 (GRCm39) |
E1790G |
probably damaging |
Het |
| Tmem88b |
T |
A |
4: 155,870,221 (GRCm39) |
|
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,864,318 (GRCm39) |
D355G |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,930,484 (GRCm39) |
V576E |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,039,609 (GRCm39) |
G62D |
probably benign |
Het |
| Trim66 |
T |
G |
7: 109,085,269 (GRCm39) |
K100N |
probably benign |
Het |
| Tsnaxip1 |
A |
T |
8: 106,568,172 (GRCm39) |
T313S |
possibly damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,279 (GRCm39) |
I389N |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,094,097 (GRCm39) |
V1335M |
possibly damaging |
Het |
| Urah |
A |
G |
7: 140,415,124 (GRCm39) |
T5A |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,388,914 (GRCm39) |
Y2185H |
probably damaging |
Het |
| Usp44 |
T |
C |
10: 93,692,172 (GRCm39) |
S643P |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,970,937 (GRCm39) |
V631A |
probably damaging |
Het |
| Vmn2r11 |
G |
A |
5: 109,201,679 (GRCm39) |
T275I |
possibly damaging |
Het |
| Vmn2r54 |
C |
A |
7: 12,349,420 (GRCm39) |
V721F |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,498 (GRCm39) |
I299T |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,849,251 (GRCm39) |
T2387A |
probably damaging |
Het |
| Washc5 |
A |
T |
15: 59,209,044 (GRCm39) |
L610Q |
probably benign |
Het |
| Zbtb21 |
T |
C |
16: 97,751,568 (GRCm39) |
E905G |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,309,095 (GRCm39) |
T774A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,299 (GRCm39) |
I457V |
probably benign |
Het |
| Zfp964 |
T |
C |
8: 70,111,994 (GRCm39) |
Y29H |
possibly damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,702 (GRCm39) |
F202L |
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 |
|
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'- CCTGGAGATAGAAGATACCATGTCC -3'
(R):5'- GCCCAAATCGCTATGTAGTGTC -3'
Sequencing Primer
(F):5'- ATATGTACATGTGTGAGTATATGCAC -3'
(R):5'- CGCTATGTAGTGTCATCTTAATAGAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation