Incidental Mutation 'R0964:Ccser2'
ID |
81590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser2
|
Ensembl Gene |
ENSMUSG00000058690 |
Gene Name |
coiled-coil serine rich 2 |
Synonyms |
2900054P12Rik, 1700012P13Rik, Gcap14 |
MMRRC Submission |
039093-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R0964 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
36596893-36690734 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 36630965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
[ENSMUST00000182042]
[ENSMUST00000182576]
[ENSMUST00000182797]
[ENSMUST00000183007]
[ENSMUST00000183038]
[ENSMUST00000183316]
|
AlphaFold |
Q3UHI0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067700
|
SMART Domains |
Protein: ENSMUSP00000068550 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090024
|
SMART Domains |
Protein: ENSMUSP00000087478 Gene: ENSMUSG00000058690
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 |
probably benign
Transcript: ENSMUST00000182042
|
SMART Domains |
Protein: ENSMUSP00000138453 Gene: ENSMUSG00000058690
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
coiled coil region
|
138 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182576
|
SMART Domains |
Protein: ENSMUSP00000138318 Gene: ENSMUSG00000058690
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182635
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182797
|
SMART Domains |
Protein: ENSMUSP00000138787 Gene: ENSMUSG00000058690
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
coiled coil region
|
138 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183007
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183316
|
SMART Domains |
Protein: ENSMUSP00000138100 Gene: ENSMUSG00000058690
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
coiled coil region
|
78 |
115 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Acacb |
A |
T |
5: 114,367,813 (GRCm39) |
M1604L |
possibly damaging |
Het |
Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
Adgrl1 |
T |
C |
8: 84,661,041 (GRCm39) |
|
probably benign |
Het |
Alppl2 |
C |
T |
1: 87,015,446 (GRCm39) |
V372I |
possibly damaging |
Het |
Apol8 |
C |
T |
15: 77,633,811 (GRCm39) |
S255N |
probably benign |
Het |
Atp8b4 |
A |
T |
2: 126,179,413 (GRCm39) |
F973I |
probably damaging |
Het |
Bbs4 |
A |
G |
9: 59,230,259 (GRCm39) |
*150Q |
probably null |
Het |
Bltp3a |
A |
T |
17: 28,106,152 (GRCm39) |
T893S |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,597,749 (GRCm39) |
|
probably benign |
Het |
Ccn1 |
C |
A |
3: 145,353,503 (GRCm39) |
C353F |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,741,832 (GRCm39) |
E1607G |
probably benign |
Het |
Clca4b |
A |
G |
3: 144,621,337 (GRCm39) |
I579T |
probably benign |
Het |
Col20a1 |
T |
A |
2: 180,626,278 (GRCm39) |
|
probably benign |
Het |
Creg2 |
T |
C |
1: 39,664,144 (GRCm39) |
I205V |
probably benign |
Het |
Ddx24 |
C |
T |
12: 103,390,166 (GRCm39) |
R275H |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,618,699 (GRCm39) |
A579T |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,551,962 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
Gckr |
T |
C |
5: 31,484,259 (GRCm39) |
|
probably benign |
Het |
Gpbp1l1 |
A |
G |
4: 116,438,436 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,281,523 (GRCm39) |
T1913A |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,158,003 (GRCm39) |
|
probably benign |
Het |
Meioc |
G |
A |
11: 102,570,857 (GRCm39) |
V863I |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,096,751 (GRCm39) |
I341V |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,235,828 (GRCm39) |
T664A |
probably benign |
Het |
Myo3b |
A |
C |
2: 70,257,193 (GRCm39) |
D1269A |
probably damaging |
Het |
Nckap1 |
A |
G |
2: 80,378,243 (GRCm39) |
|
probably null |
Het |
Nr3c2 |
A |
G |
8: 77,635,297 (GRCm39) |
|
probably null |
Het |
Nxpe5 |
T |
C |
5: 138,238,186 (GRCm39) |
S249P |
probably damaging |
Het |
Or52z1 |
C |
T |
7: 103,436,604 (GRCm39) |
M293I |
probably benign |
Het |
Or8k16 |
A |
G |
2: 85,520,709 (GRCm39) |
N312S |
probably benign |
Het |
Or9a4 |
T |
C |
6: 40,549,139 (GRCm39) |
V273A |
probably benign |
Het |
Pitpnm3 |
G |
A |
11: 71,949,296 (GRCm39) |
T675I |
probably damaging |
Het |
Plekhm1 |
C |
A |
11: 103,285,908 (GRCm39) |
E176* |
probably null |
Het |
Prdm11 |
C |
A |
2: 92,819,567 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
C |
A |
7: 30,205,706 (GRCm39) |
R218S |
probably damaging |
Het |
Rps15a |
T |
C |
7: 117,714,060 (GRCm39) |
D54G |
probably benign |
Het |
Sbno2 |
G |
T |
10: 79,920,093 (GRCm39) |
T46N |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,697,243 (GRCm39) |
|
probably benign |
Het |
Sema3c |
T |
C |
5: 17,926,907 (GRCm39) |
F567L |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,116,780 (GRCm39) |
|
probably benign |
Het |
Spaca6 |
A |
T |
17: 18,058,653 (GRCm39) |
E284V |
possibly damaging |
Het |
Srsf3 |
C |
A |
17: 29,255,412 (GRCm39) |
L66I |
probably damaging |
Het |
Srsf3 |
T |
A |
17: 29,255,413 (GRCm39) |
L66Q |
probably damaging |
Het |
Syne1 |
T |
C |
10: 4,993,652 (GRCm39) |
T8363A |
possibly damaging |
Het |
Trmt1 |
T |
A |
8: 85,423,481 (GRCm39) |
L298Q |
probably damaging |
Het |
Uba6 |
T |
C |
5: 86,267,260 (GRCm39) |
I923V |
possibly damaging |
Het |
Vmn2r106 |
G |
A |
17: 20,487,859 (GRCm39) |
H847Y |
probably benign |
Het |
Vmn2r15 |
T |
C |
5: 109,445,401 (GRCm39) |
T8A |
probably benign |
Het |
Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
Zbtb41 |
T |
G |
1: 139,366,769 (GRCm39) |
F583V |
probably damaging |
Het |
Zfp938 |
T |
A |
10: 82,061,253 (GRCm39) |
I456F |
probably benign |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAATCTGCTGCCAGGAACTGAAC -3'
(R):5'- GAAAGGAGTGAGCGCACCTCTAAC -3'
Sequencing Primer
(F):5'- TGCCAGGAACTGAACTGATCC -3'
(R):5'- CAGTTTTGCTAACAGGCAAGC -3'
|
Posted On |
2013-11-08 |