Incidental Mutation 'R1514:Specc1'
ID |
168632 |
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 |
039561-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R1514 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62047358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 909
(L909H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144311
(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: L829H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000090071 Gene: ENSMUSG00000042331 AA Change: L829H
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: L909H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104349 Gene: ENSMUSG00000042331 AA Change: L909H
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: L249H
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000144174 Gene: ENSMUSG00000042331 AA Change: L249H
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: L900H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143853 Gene: ENSMUSG00000042331 AA Change: L900H
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: L820H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144300 Gene: ENSMUSG00000042331 AA Change: L820H
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: L909H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144055 Gene: ENSMUSG00000042331 AA Change: L909H
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: L909H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144311 Gene: ENSMUSG00000042331 AA Change: L909H
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 |
0.1019 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,448,729 (GRCm39) |
L147Q |
probably damaging |
Het |
Aadacl4fm5 |
T |
C |
4: 144,504,329 (GRCm39) |
N274S |
probably damaging |
Het |
Abcb1a |
A |
G |
5: 8,724,791 (GRCm39) |
T75A |
possibly damaging |
Het |
Acvr1 |
A |
T |
2: 58,337,597 (GRCm39) |
L495* |
probably null |
Het |
Add1 |
T |
C |
5: 34,767,961 (GRCm39) |
I240T |
probably benign |
Het |
Adgra2 |
C |
A |
8: 27,611,306 (GRCm39) |
S870* |
probably null |
Het |
Amer3 |
G |
A |
1: 34,618,408 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
T |
2: 59,792,670 (GRCm39) |
V486D |
probably benign |
Het |
Bcorl1 |
T |
A |
X: 47,494,821 (GRCm39) |
D1697E |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,411,338 (GRCm39) |
D282G |
possibly damaging |
Het |
Cep112 |
A |
G |
11: 108,362,880 (GRCm39) |
D200G |
probably damaging |
Het |
Clec4a4 |
C |
T |
6: 122,967,401 (GRCm39) |
P26S |
probably benign |
Het |
Crygf |
A |
C |
1: 65,967,197 (GRCm39) |
R102S |
possibly damaging |
Het |
Cyp2b19 |
A |
T |
7: 26,466,585 (GRCm39) |
E404D |
probably benign |
Het |
Dcdc2a |
A |
G |
13: 25,245,237 (GRCm39) |
I105V |
probably benign |
Het |
Dus4l |
T |
C |
12: 31,690,938 (GRCm39) |
M238V |
probably damaging |
Het |
Eprs1 |
G |
A |
1: 185,114,031 (GRCm39) |
M326I |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,114,661 (GRCm39) |
T1010A |
probably benign |
Het |
Fam124b |
T |
C |
1: 80,178,148 (GRCm39) |
T284A |
possibly damaging |
Het |
Glb1l2 |
A |
G |
9: 26,680,420 (GRCm39) |
|
probably benign |
Het |
Gm16223 |
T |
A |
5: 42,225,298 (GRCm39) |
|
probably null |
Het |
Gm4952 |
T |
A |
19: 12,604,278 (GRCm39) |
M230K |
probably damaging |
Het |
Gm5828 |
C |
A |
1: 16,839,583 (GRCm39) |
|
noncoding transcript |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ifna16 |
T |
A |
4: 88,594,979 (GRCm39) |
T39S |
possibly damaging |
Het |
Kcnc3 |
G |
A |
7: 44,245,027 (GRCm39) |
G439D |
probably damaging |
Het |
Kif1c |
T |
C |
11: 70,596,555 (GRCm39) |
S257P |
probably damaging |
Het |
Kng1 |
A |
G |
16: 22,898,510 (GRCm39) |
K456E |
probably damaging |
Het |
Lpxn |
T |
C |
19: 12,801,414 (GRCm39) |
L142P |
probably damaging |
Het |
Lratd1 |
C |
T |
12: 14,199,864 (GRCm39) |
V288M |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,768,565 (GRCm39) |
|
probably benign |
Het |
Mks1 |
A |
T |
11: 87,751,937 (GRCm39) |
D369V |
probably benign |
Het |
Myo1d |
A |
T |
11: 80,576,734 (GRCm39) |
Y114N |
probably damaging |
Het |
Npas2 |
A |
G |
1: 39,350,935 (GRCm39) |
D126G |
possibly damaging |
Het |
Oga |
A |
G |
19: 45,765,370 (GRCm39) |
S146P |
probably damaging |
Het |
Onecut2 |
T |
C |
18: 64,474,651 (GRCm39) |
F401L |
possibly damaging |
Het |
Or10n1 |
T |
C |
9: 39,524,992 (GRCm39) |
I43T |
probably damaging |
Het |
Or10v1 |
A |
G |
19: 11,873,978 (GRCm39) |
T198A |
probably benign |
Het |
Or4f61 |
T |
C |
2: 111,922,381 (GRCm39) |
I222V |
probably benign |
Het |
Parp11 |
T |
A |
6: 127,451,256 (GRCm39) |
F102Y |
possibly damaging |
Het |
Pcnx1 |
C |
T |
12: 81,965,572 (GRCm39) |
H580Y |
probably damaging |
Het |
Pde3b |
A |
G |
7: 114,130,001 (GRCm39) |
H852R |
probably damaging |
Het |
Pira1 |
G |
A |
7: 3,742,639 (GRCm39) |
T23I |
possibly damaging |
Het |
Pou2af1 |
A |
G |
9: 51,144,508 (GRCm39) |
T141A |
probably benign |
Het |
Rgs22 |
A |
C |
15: 36,013,246 (GRCm39) |
V1190G |
probably benign |
Het |
Rnf112 |
T |
C |
11: 61,341,236 (GRCm39) |
S450G |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 91,987,378 (GRCm39) |
I893N |
probably damaging |
Het |
Rps3a1 |
A |
G |
3: 86,045,834 (GRCm39) |
V210A |
probably benign |
Het |
Runx2 |
C |
T |
17: 45,046,224 (GRCm39) |
A114T |
possibly damaging |
Het |
Sardh |
A |
G |
2: 27,087,702 (GRCm39) |
V723A |
possibly damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Secisbp2 |
A |
G |
13: 51,836,131 (GRCm39) |
S742G |
possibly damaging |
Het |
Selenow |
G |
T |
7: 15,654,223 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
A |
G |
2: 122,531,334 (GRCm39) |
V226A |
probably damaging |
Het |
Sntb2 |
A |
G |
8: 107,718,164 (GRCm39) |
N291D |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,222,866 (GRCm39) |
T190A |
probably damaging |
Het |
Spata31e5 |
T |
A |
1: 28,817,829 (GRCm39) |
T68S |
possibly damaging |
Het |
Sprr1b |
T |
C |
3: 92,344,414 (GRCm39) |
*154W |
probably null |
Het |
Taar4 |
T |
A |
10: 23,836,510 (GRCm39) |
M40K |
possibly damaging |
Het |
Ubr2 |
A |
T |
17: 47,311,749 (GRCm39) |
L34H |
probably damaging |
Het |
Ubxn6 |
T |
C |
17: 56,376,003 (GRCm39) |
K386R |
probably benign |
Het |
Vmn2r112 |
A |
T |
17: 22,821,825 (GRCm39) |
T168S |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,344,667 (GRCm39) |
R2303* |
probably null |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp13 |
G |
T |
17: 23,795,386 (GRCm39) |
T395K |
probably damaging |
Het |
Zfp281 |
A |
G |
1: 136,554,435 (GRCm39) |
N471S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGGAGATAGAAGATACCATGTCCC -3'
(R):5'- TGCTGTCATTCAGAAGTAAGCTGACTG -3'
Sequencing Primer
(F):5'- AGTATGATAACCAGATTACTCCCC -3'
(R):5'- TTCAGAAGTAAGCTGACTGTGGATG -3'
|
Posted On |
2014-04-13 |