Incidental Mutation 'IGL02899:Ccser2'
| ID |
363516 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccser2
|
| Ensembl Gene |
ENSMUSG00000058690 |
| Gene Name |
coiled-coil serine rich 2 |
| Synonyms |
2900054P12Rik, 1700012P13Rik, Gcap14 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
IGL02899
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
36596893-36690734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36662716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 156
(T156I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
|
| AlphaFold |
Q3UHI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067700
AA Change: T156I
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: T156I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090024
AA Change: T156I
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: T156I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
389 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
coiled coil region
|
710 |
747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182635
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
A |
G |
2: 166,710,971 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,803,921 (GRCm39) |
L373P |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,781,920 (GRCm39) |
I753N |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,927 (GRCm39) |
M682T |
probably damaging |
Het |
| Cep97 |
C |
A |
16: 55,738,903 (GRCm39) |
S267I |
probably damaging |
Het |
| Dhx35 |
A |
G |
2: 158,643,370 (GRCm39) |
Y39C |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,510,447 (GRCm39) |
D937E |
probably damaging |
Het |
| Elmod2 |
A |
G |
8: 84,043,562 (GRCm39) |
Y202H |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,659,396 (GRCm39) |
N260S |
possibly damaging |
Het |
| Gm5591 |
A |
G |
7: 38,218,842 (GRCm39) |
L677P |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,474 (GRCm39) |
|
probably null |
Het |
| Hltf |
C |
T |
3: 20,153,981 (GRCm39) |
T639I |
probably damaging |
Het |
| Inhca |
C |
A |
9: 103,154,773 (GRCm39) |
V173L |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,066,612 (GRCm39) |
Y321C |
probably damaging |
Het |
| Lgr4 |
G |
A |
2: 109,748,598 (GRCm39) |
G45R |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,179,547 (GRCm39) |
D1538G |
probably benign |
Het |
| Maf1 |
T |
A |
15: 76,237,220 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,945,049 (GRCm39) |
F91S |
probably damaging |
Het |
| Ncan |
C |
T |
8: 70,567,698 (GRCm39) |
R138H |
possibly damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,859 (GRCm39) |
M62K |
probably damaging |
Het |
| Or5ac21 |
G |
T |
16: 59,123,649 (GRCm39) |
L44F |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,960,531 (GRCm39) |
L82S |
probably damaging |
Het |
| Ppp2r2b |
A |
T |
18: 42,778,874 (GRCm39) |
H417Q |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,334,807 (GRCm39) |
L98P |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,748,220 (GRCm39) |
V3752L |
possibly damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,109,979 (GRCm39) |
L489P |
probably damaging |
Het |
| Slc38a8 |
C |
T |
8: 120,212,282 (GRCm39) |
V354M |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,930,459 (GRCm39) |
E512G |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,180,583 (GRCm39) |
M597T |
probably damaging |
Het |
| Tgfb3 |
G |
A |
12: 86,116,550 (GRCm39) |
R163C |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,127,265 (GRCm39) |
M279V |
probably benign |
Het |
| Ttll9 |
G |
A |
2: 152,844,871 (GRCm39) |
G413D |
probably damaging |
Het |
| Tut1 |
A |
G |
19: 8,939,751 (GRCm39) |
D245G |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,041,589 (GRCm39) |
V2023E |
probably damaging |
Het |
| Vps33a |
C |
T |
5: 123,669,239 (GRCm39) |
G554D |
probably damaging |
Het |
| Zfp27 |
C |
A |
7: 29,595,680 (GRCm39) |
R95M |
possibly damaging |
Het |
|
| Other mutations in Ccser2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Ccser2
|
APN |
14 |
36,662,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Ccser2
|
APN |
14 |
36,660,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Ccser2
|
APN |
14 |
36,662,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01623:Ccser2
|
APN |
14 |
36,662,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02322:Ccser2
|
APN |
14 |
36,631,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Ccser2
|
APN |
14 |
36,640,562 (GRCm39) |
splice site |
probably benign |
|
|
R0433:Ccser2
|
UTSW |
14 |
36,640,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Ccser2
|
UTSW |
14 |
36,662,149 (GRCm39) |
missense |
probably benign |
|
|
R0674:Ccser2
|
UTSW |
14 |
36,640,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0853:Ccser2
|
UTSW |
14 |
36,662,367 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0964:Ccser2
|
UTSW |
14 |
36,630,965 (GRCm39) |
splice site |
probably benign |
|
|
R1748:Ccser2
|
UTSW |
14 |
36,618,271 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Ccser2
|
UTSW |
14 |
36,618,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Ccser2
|
UTSW |
14 |
36,640,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2405:Ccser2
|
UTSW |
14 |
36,660,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Ccser2
|
UTSW |
14 |
36,601,518 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3846:Ccser2
|
UTSW |
14 |
36,662,245 (GRCm39) |
missense |
probably benign |
|
|
R4298:Ccser2
|
UTSW |
14 |
36,612,337 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4701:Ccser2
|
UTSW |
14 |
36,660,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4746:Ccser2
|
UTSW |
14 |
36,631,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Ccser2
|
UTSW |
14 |
36,662,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4959:Ccser2
|
UTSW |
14 |
36,662,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5020:Ccser2
|
UTSW |
14 |
36,662,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5179:Ccser2
|
UTSW |
14 |
36,601,308 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5378:Ccser2
|
UTSW |
14 |
36,601,391 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6011:Ccser2
|
UTSW |
14 |
36,601,532 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6057:Ccser2
|
UTSW |
14 |
36,663,122 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6180:Ccser2
|
UTSW |
14 |
36,662,276 (GRCm39) |
missense |
probably benign |
|
|
R6216:Ccser2
|
UTSW |
14 |
36,662,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Ccser2
|
UTSW |
14 |
36,662,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6266:Ccser2
|
UTSW |
14 |
36,601,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Ccser2
|
UTSW |
14 |
36,601,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6862:Ccser2
|
UTSW |
14 |
36,662,038 (GRCm39) |
missense |
probably benign |
|
|
R7025:Ccser2
|
UTSW |
14 |
36,661,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:Ccser2
|
UTSW |
14 |
36,661,786 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7092:Ccser2
|
UTSW |
14 |
36,662,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7353:Ccser2
|
UTSW |
14 |
36,663,100 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7440:Ccser2
|
UTSW |
14 |
36,620,174 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7509:Ccser2
|
UTSW |
14 |
36,660,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Ccser2
|
UTSW |
14 |
36,601,457 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7770:Ccser2
|
UTSW |
14 |
36,648,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Ccser2
|
UTSW |
14 |
36,618,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Ccser2
|
UTSW |
14 |
36,618,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Ccser2
|
UTSW |
14 |
36,612,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8456:Ccser2
|
UTSW |
14 |
36,612,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8805:Ccser2
|
UTSW |
14 |
36,601,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Ccser2
|
UTSW |
14 |
36,601,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8994:Ccser2
|
UTSW |
14 |
36,662,076 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9274:Ccser2
|
UTSW |
14 |
36,660,737 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9425:Ccser2
|
UTSW |
14 |
36,601,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9502:Ccser2
|
UTSW |
14 |
36,631,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9644:Ccser2
|
UTSW |
14 |
36,601,150 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0066:Ccser2
|
UTSW |
14 |
36,662,956 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation