Incidental Mutation 'IGL00156:Specc1'
ID |
306546 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00156
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 62008835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 117
(W117L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090071
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049836]
[ENSMUST00000092415]
[ENSMUST00000108709]
[ENSMUST00000201015]
[ENSMUST00000201364]
[ENSMUST00000201624]
[ENSMUST00000201671]
[ENSMUST00000201723]
[ENSMUST00000202179]
[ENSMUST00000202905]
[ENSMUST00000202178]
[ENSMUST00000202389]
[ENSMUST00000202744]
|
AlphaFold |
Q5SXY1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049836
AA Change: W197L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000063102 Gene: ENSMUSG00000042331 AA Change: W197L
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: W117L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000090071 Gene: ENSMUSG00000042331 AA Change: W117L
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: W197L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000104349 Gene: ENSMUSG00000042331 AA Change: W197L
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: W197L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143853 Gene: ENSMUSG00000042331 AA Change: W197L
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: W197L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000144659 Gene: ENSMUSG00000042331 AA Change: W197L
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: W197L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000144030 Gene: ENSMUSG00000042331 AA Change: W197L
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: ENSMUST00000201723
AA Change: W117L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000144542 Gene: ENSMUSG00000042331 AA Change: W117L
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: ENSMUST00000202179
AA Change: W117L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000144300 Gene: ENSMUSG00000042331 AA Change: W117L
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: ENSMUST00000202905
AA Change: W197L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000144311 Gene: ENSMUSG00000042331 AA Change: W197L
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: ENSMUST00000202178
AA Change: W197L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000144161 Gene: ENSMUSG00000042331 AA Change: W197L
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: W197L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000144055 Gene: ENSMUSG00000042331 AA Change: W197L
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 |
noncoding transcript
Transcript: ENSMUST00000201866
|
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 |
|
Coding Region Coverage |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
A |
3: 121,856,353 (GRCm39) |
|
probably null |
Het |
Adamts19 |
T |
A |
18: 59,157,537 (GRCm39) |
V943E |
probably damaging |
Het |
C530025M09Rik |
C |
A |
2: 149,672,646 (GRCm39) |
|
probably benign |
Het |
Cep192 |
T |
G |
18: 67,953,407 (GRCm39) |
W475G |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 8,014,795 (GRCm39) |
Y870C |
probably damaging |
Het |
Cyp2a22 |
A |
T |
7: 26,637,163 (GRCm39) |
M207K |
probably benign |
Het |
Dpm1 |
A |
G |
2: 168,052,495 (GRCm39) |
V247A |
probably benign |
Het |
Glt1d1 |
T |
C |
5: 127,709,349 (GRCm39) |
M1T |
probably null |
Het |
Gm9507 |
A |
T |
10: 77,647,114 (GRCm39) |
C188* |
probably null |
Het |
Hectd4 |
T |
C |
5: 121,501,933 (GRCm39) |
V4222A |
possibly damaging |
Het |
Igkv3-3 |
T |
A |
6: 70,664,397 (GRCm39) |
S80T |
possibly damaging |
Het |
Lrrc49 |
T |
C |
9: 60,508,603 (GRCm39) |
K520E |
probably damaging |
Het |
Ltbp1 |
A |
T |
17: 75,692,155 (GRCm39) |
Y1273F |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,823,463 (GRCm39) |
H1478Q |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,736,504 (GRCm39) |
D518G |
probably benign |
Het |
Or1e22 |
T |
A |
11: 73,377,398 (GRCm39) |
N84I |
probably benign |
Het |
Or4a71 |
C |
T |
2: 89,358,551 (GRCm39) |
D68N |
probably damaging |
Het |
Or7e168 |
T |
C |
9: 19,719,692 (GRCm39) |
I26T |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,900,515 (GRCm39) |
S9C |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,098,731 (GRCm39) |
H681R |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,612,281 (GRCm39) |
S644G |
probably benign |
Het |
Sgce |
T |
A |
6: 4,689,750 (GRCm39) |
H361L |
probably damaging |
Het |
Srrm4 |
A |
G |
5: 116,584,616 (GRCm39) |
S485P |
possibly damaging |
Het |
Traf2 |
G |
T |
2: 25,410,463 (GRCm39) |
Y395* |
probably null |
Het |
Trf |
A |
G |
9: 103,098,156 (GRCm39) |
I34T |
probably benign |
Het |
Vdac2 |
T |
C |
14: 21,888,592 (GRCm39) |
Y165H |
possibly damaging |
Het |
Wwp1 |
T |
C |
4: 19,650,360 (GRCm39) |
T269A |
probably benign |
Het |
|
Other mutations in Specc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |