Incidental Mutation 'IGL01285:Ccser2'
| ID |
72690 |
| 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 # |
IGL01285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
36596893-36690734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36660626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 509
(T509M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
[ENSMUST00000183038]
|
| AlphaFold |
Q3UHI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067700
AA Change: T509M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: T509M
| 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 damaging
Transcript: ENSMUST00000090024
AA Change: T509M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: T509M
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183038
|
| SMART Domains |
Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,271,610 (GRCm39) |
N599S |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,509,893 (GRCm39) |
*755Y |
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,132,868 (GRCm39) |
T1166K |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,149,275 (GRCm39) |
V862A |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,279,264 (GRCm39) |
A382V |
probably damaging |
Het |
| Asb18 |
A |
G |
1: 89,923,963 (GRCm39) |
V100A |
probably benign |
Het |
| Bdnf |
G |
A |
2: 109,553,931 (GRCm39) |
A102T |
probably benign |
Het |
| Cfap47 |
A |
G |
X: 78,532,764 (GRCm39) |
I767T |
possibly damaging |
Het |
| Des |
G |
A |
1: 75,339,227 (GRCm39) |
A251T |
probably benign |
Het |
| Dmd |
C |
T |
X: 84,153,590 (GRCm39) |
Q3224* |
probably null |
Het |
| Endog |
G |
T |
2: 30,061,975 (GRCm39) |
|
probably null |
Het |
| Ggt7 |
A |
G |
2: 155,342,691 (GRCm39) |
V269A |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,686,739 (GRCm39) |
F808S |
probably damaging |
Het |
| Hira |
A |
G |
16: 18,730,930 (GRCm39) |
T210A |
probably benign |
Het |
| Ifitm5 |
C |
A |
7: 140,530,076 (GRCm39) |
R16L |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,031,273 (GRCm39) |
C404R |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Irf9 |
A |
G |
14: 55,845,058 (GRCm39) |
E258G |
probably damaging |
Het |
| Megf11 |
T |
C |
9: 64,567,728 (GRCm39) |
C406R |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,364 (GRCm39) |
N143S |
possibly damaging |
Het |
| Or4m1 |
A |
G |
14: 50,557,713 (GRCm39) |
F193S |
possibly damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,711 (GRCm39) |
F102I |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,266 (GRCm39) |
D19G |
probably benign |
Het |
| Otof |
G |
T |
5: 30,562,527 (GRCm39) |
Q254K |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,688,044 (GRCm39) |
N65K |
possibly damaging |
Het |
| Plcd3 |
A |
G |
11: 102,968,696 (GRCm39) |
F332L |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,635,230 (GRCm39) |
D1332G |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,634,130 (GRCm39) |
D521V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,575,143 (GRCm39) |
V417D |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,044,000 (GRCm39) |
R877Q |
probably benign |
Het |
| Shroom2 |
A |
T |
X: 151,442,353 (GRCm39) |
D937E |
probably damaging |
Het |
| Slc35a3 |
A |
G |
3: 116,488,262 (GRCm39) |
S142P |
probably damaging |
Het |
| Srpx |
A |
T |
X: 9,905,298 (GRCm39) |
V398E |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,560,653 (GRCm39) |
K669N |
possibly damaging |
Het |
| Sumf2 |
A |
G |
5: 129,878,811 (GRCm39) |
D49G |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,424,721 (GRCm39) |
E370D |
probably damaging |
Het |
| Tas2r115 |
G |
T |
6: 132,714,641 (GRCm39) |
S103R |
probably damaging |
Het |
| Top2a |
G |
A |
11: 98,896,985 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,550,842 (GRCm39) |
T23190S |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,615,167 (GRCm39) |
C407F |
probably damaging |
Het |
| Vmn2r27 |
G |
T |
6: 124,169,370 (GRCm39) |
H587N |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,692 (GRCm39) |
I218T |
possibly damaging |
Het |
| Vsig10 |
A |
G |
5: 117,462,954 (GRCm39) |
N60S |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,956,979 (GRCm39) |
S877P |
probably damaging |
Het |
| Zfp979 |
G |
T |
4: 147,699,853 (GRCm39) |
T29N |
probably damaging |
Het |
| Znfx1 |
G |
A |
2: 166,880,615 (GRCm39) |
R390C |
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 |
|
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 |
|
|
IGL02899:Ccser2
|
APN |
14 |
36,662,716 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
2013-10-07 |
Incidental Mutation