Incidental Mutation 'R2245:Specc1'
ID | 240634 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Specc1
|
Ensembl Gene |
ENSMUSG00000042331 |
Gene Name | sperm antigen with calponin homology and coiled-coil domains 1 |
Synonyms | Cytsb |
MMRRC Submission |
040245-MU
|
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.157)
|
Stock # | R2245 (G1)
|
Quality Score | 225 |
Status |
Validated
|
Chromosome | 11 |
Chromosomal Location | 61956763-62223013 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 62131887 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 710
(L710P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049836]
[ENSMUST00000092415]
[ENSMUST00000108709]
[ENSMUST00000201015]
[ENSMUST00000201364]
[ENSMUST00000201624]
[ENSMUST00000201671]
[ENSMUST00000201723]
[ENSMUST00000202178]
[ENSMUST00000202179]
[ENSMUST00000202389]
[ENSMUST00000202744]
[ENSMUST00000202905]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049836
AA Change: L710P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063102 Gene: ENSMUSG00000042331 AA Change: L710P
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: ENSMUST00000092415
AA Change: L630P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090071 Gene: ENSMUSG00000042331 AA Change: L630P
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: L710P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104349 Gene: ENSMUSG00000042331 AA Change: L710P
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: L50P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144174 Gene: ENSMUSG00000042331 AA Change: L50P
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: L710P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143853 Gene: ENSMUSG00000042331 AA Change: L710P
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: L710P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144659 Gene: ENSMUSG00000042331 AA Change: L710P
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: L710P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144030 Gene: ENSMUSG00000042331 AA Change: L710P
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: ENSMUST00000201723
AA Change: L630P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144542 Gene: ENSMUSG00000042331 AA Change: L630P
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 damaging
Transcript: ENSMUST00000202178
AA Change: L710P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144161 Gene: ENSMUSG00000042331 AA Change: L710P
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: ENSMUST00000202179
AA Change: L630P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144300 Gene: ENSMUSG00000042331 AA Change: L630P
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: L710P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144055 Gene: ENSMUSG00000042331 AA Change: L710P
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: ENSMUST00000202744
AA Change: L50P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144483 Gene: ENSMUSG00000042331 AA Change: L50P
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202905
AA Change: L710P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144311 Gene: ENSMUSG00000042331 AA Change: L710P
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 |
|
Meta Mutation Damage Score |
0.5354
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (31/31) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
A |
G |
7: 82,450,100 |
Q154R |
probably damaging |
Het |
Alpk2 |
A |
G |
18: 65,305,163 |
L1520P |
probably benign |
Het |
Brd1 |
A |
G |
15: 88,689,860 |
|
probably null |
Het |
Ccdc158 |
A |
G |
5: 92,609,952 |
|
probably benign |
Het |
Cep350 |
C |
A |
1: 155,879,020 |
V1950F |
probably benign |
Het |
Csnk1d |
A |
G |
11: 120,972,403 |
I237T |
probably damaging |
Het |
Ddah2 |
T |
C |
17: 35,061,585 |
L234P |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,186,509 |
|
probably null |
Het |
Ephb1 |
A |
C |
9: 101,996,774 |
|
probably benign |
Het |
Jarid2 |
T |
A |
13: 44,906,276 |
N661K |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,638,400 |
S2120F |
possibly damaging |
Het |
Myadml2 |
A |
T |
11: 120,647,830 |
F60I |
probably damaging |
Het |
Myo15 |
T |
C |
11: 60,509,099 |
V2893A |
probably damaging |
Het |
Ntn1 |
A |
G |
11: 68,385,294 |
V276A |
probably benign |
Het |
Olfr1216 |
A |
T |
2: 89,013,149 |
I305K |
probably benign |
Het |
Olfr1355 |
A |
G |
10: 78,879,931 |
Y253C |
probably damaging |
Het |
Olfr745 |
T |
A |
14: 50,642,605 |
I102N |
probably damaging |
Het |
Otof |
T |
C |
5: 30,370,207 |
Y1962C |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,665,872 |
|
probably benign |
Het |
Polr2a |
A |
G |
11: 69,735,183 |
S1676P |
unknown |
Het |
Prpf40b |
A |
G |
15: 99,305,166 |
|
probably benign |
Het |
Ptprh |
T |
C |
7: 4,573,346 |
D305G |
probably benign |
Het |
Rdh16f2 |
A |
G |
10: 127,876,276 |
K201E |
probably damaging |
Het |
Slc19a3 |
T |
C |
1: 83,013,970 |
Y439C |
possibly damaging |
Het |
Son |
G |
T |
16: 91,647,960 |
|
probably null |
Het |
Tex15 |
A |
G |
8: 33,571,496 |
D592G |
possibly damaging |
Het |
Tmem237 |
A |
T |
1: 59,108,704 |
D209E |
probably damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,268,161 |
T659A |
probably benign |
Het |
Vmn2r71 |
T |
A |
7: 85,624,180 |
I734N |
probably damaging |
Het |
Wdr7 |
A |
T |
18: 63,924,909 |
I1270F |
possibly damaging |
Het |
|
Other mutations in Specc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Specc1
|
APN |
11 |
62118009 |
missense |
probably benign |
0.02 |
IGL01953:Specc1
|
APN |
11 |
62118296 |
missense |
probably benign |
0.40 |
IGL02244:Specc1
|
APN |
11 |
62128368 |
missense |
probably benign |
0.41 |
IGL02257:Specc1
|
APN |
11 |
62118417 |
missense |
probably damaging |
1.00 |
IGL02512:Specc1
|
APN |
11 |
62118389 |
missense |
probably damaging |
1.00 |
IGL03147:Specc1
|
UTSW |
11 |
62118282 |
missense |
probably benign |
|
R0039:Specc1
|
UTSW |
11 |
62029369 |
missense |
probably damaging |
0.97 |
R0114:Specc1
|
UTSW |
11 |
62146313 |
missense |
possibly damaging |
0.92 |
R0635:Specc1
|
UTSW |
11 |
62118903 |
missense |
probably damaging |
1.00 |
R1514:Specc1
|
UTSW |
11 |
62156532 |
missense |
probably damaging |
1.00 |
R1604:Specc1
|
UTSW |
11 |
62043057 |
missense |
probably damaging |
1.00 |
R1717:Specc1
|
UTSW |
11 |
62128392 |
missense |
possibly damaging |
0.88 |
R1719:Specc1
|
UTSW |
11 |
62128392 |
missense |
possibly damaging |
0.88 |
R1739:Specc1
|
UTSW |
11 |
62118818 |
nonsense |
probably null |
|
R1757:Specc1
|
UTSW |
11 |
62119284 |
critical splice donor site |
probably null |
|
R1990:Specc1
|
UTSW |
11 |
62029294 |
missense |
possibly damaging |
0.87 |
R1991:Specc1
|
UTSW |
11 |
62029294 |
missense |
possibly damaging |
0.87 |
R2063:Specc1
|
UTSW |
11 |
62118296 |
missense |
probably benign |
0.01 |
R2071:Specc1
|
UTSW |
11 |
62117875 |
missense |
probably damaging |
0.98 |
R3415:Specc1
|
UTSW |
11 |
62118419 |
missense |
probably benign |
0.29 |
R3831:Specc1
|
UTSW |
11 |
62117967 |
missense |
probably damaging |
1.00 |
R3890:Specc1
|
UTSW |
11 |
62151913 |
missense |
probably benign |
0.00 |
R3891:Specc1
|
UTSW |
11 |
62151913 |
missense |
probably benign |
0.00 |
R4367:Specc1
|
UTSW |
11 |
62118530 |
missense |
probably damaging |
1.00 |
R4489:Specc1
|
UTSW |
11 |
62151827 |
splice site |
probably null |
|
R4580:Specc1
|
UTSW |
11 |
62219331 |
missense |
probably damaging |
1.00 |
R4852:Specc1
|
UTSW |
11 |
62211684 |
missense |
probably damaging |
1.00 |
R4930:Specc1
|
UTSW |
11 |
62118958 |
missense |
possibly damaging |
0.93 |
R5016:Specc1
|
UTSW |
11 |
62118957 |
missense |
possibly damaging |
0.92 |
R5416:Specc1
|
UTSW |
11 |
62118909 |
missense |
probably benign |
0.00 |
R5650:Specc1
|
UTSW |
11 |
62117967 |
missense |
probably damaging |
1.00 |
R6158:Specc1
|
UTSW |
11 |
62118124 |
missense |
probably damaging |
0.99 |
R6329:Specc1
|
UTSW |
11 |
62156553 |
missense |
probably damaging |
1.00 |
R6374:Specc1
|
UTSW |
11 |
62156592 |
missense |
possibly damaging |
0.93 |
R6395:Specc1
|
UTSW |
11 |
62132338 |
missense |
probably damaging |
1.00 |
R6653:Specc1
|
UTSW |
11 |
62146418 |
missense |
probably damaging |
0.99 |
R6893:Specc1
|
UTSW |
11 |
62132453 |
missense |
probably benign |
|
R6898:Specc1
|
UTSW |
11 |
62118336 |
missense |
probably benign |
|
R7054:Specc1
|
UTSW |
11 |
62117778 |
missense |
probably damaging |
0.96 |
R7294:Specc1
|
UTSW |
11 |
62118337 |
missense |
probably benign |
0.01 |
R7376:Specc1
|
UTSW |
11 |
62118252 |
missense |
probably benign |
0.06 |
R7560:Specc1
|
UTSW |
11 |
62128409 |
critical splice donor site |
probably null |
|
R7605:Specc1
|
UTSW |
11 |
62211680 |
missense |
possibly damaging |
0.91 |
R7621:Specc1
|
UTSW |
11 |
62128384 |
missense |
possibly damaging |
0.96 |
R7804:Specc1
|
UTSW |
11 |
62205397 |
missense |
probably damaging |
0.99 |
R7900:Specc1
|
UTSW |
11 |
62219361 |
missense |
probably damaging |
1.00 |
R8310:Specc1
|
UTSW |
11 |
62132345 |
missense |
probably damaging |
1.00 |
R8319:Specc1
|
UTSW |
11 |
62118675 |
missense |
possibly damaging |
0.77 |
Z1177:Specc1
|
UTSW |
11 |
62118767 |
missense |
possibly damaging |
0.86 |
Z1177:Specc1
|
UTSW |
11 |
62205423 |
missense |
possibly damaging |
0.84 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACGACTGCTTCTAGTTCTG -3'
(R):5'- TGGTGCCTCACTACTTGAAAG -3'
Sequencing Primer
(F):5'- AGTTCTGTCTTTAGAGTCCTTACAAC -3'
(R):5'- TGCCCAGTAAGATGGTAG -3'
|
Posted On | 2014-10-15 |