Incidental Mutation 'R5970:Ccser1'
| ID |
470795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
| MMRRC Submission |
044153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R5970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61288226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 130
(S130T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000126214]
|
| AlphaFold |
Q8C0C4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045522
AA Change: S130T
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: S130T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
659 |
N/A |
INTRINSIC |
|
coiled coil region
|
674 |
703 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126214
AA Change: S130T
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: S130T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
659 |
N/A |
INTRINSIC |
|
coiled coil region
|
674 |
703 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147576
|
| Meta Mutation Damage Score |
0.0620 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
G |
A |
6: 90,574,028 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,615,810 (GRCm39) |
V413A |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,507,824 (GRCm39) |
D41V |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,247,468 (GRCm39) |
V184A |
probably benign |
Het |
| Birc6 |
G |
T |
17: 74,925,497 (GRCm39) |
G936V |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,697,868 (GRCm39) |
I56V |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,821,570 (GRCm39) |
I486T |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,694,050 (GRCm39) |
I1557V |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,823,046 (GRCm39) |
I104F |
unknown |
Het |
| Cry2 |
A |
G |
2: 92,243,312 (GRCm39) |
S510P |
probably benign |
Het |
| Csmd2 |
G |
C |
4: 128,439,944 (GRCm39) |
A3133P |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,459,621 (GRCm39) |
A611S |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,743,749 (GRCm39) |
G1197E |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,885,793 (GRCm39) |
F2969L |
probably benign |
Het |
| Dnai1 |
A |
G |
4: 41,625,281 (GRCm39) |
K415R |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,842,610 (GRCm39) |
T1253S |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,678 (GRCm39) |
L1542P |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,170,682 (GRCm39) |
L1234Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 4,018,590 (GRCm39) |
R585S |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,583,552 (GRCm39) |
|
probably null |
Het |
| Heatr6 |
G |
A |
11: 83,644,544 (GRCm39) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,930 (GRCm39) |
D431G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,962,342 (GRCm39) |
N1543D |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mical3 |
G |
A |
6: 120,935,232 (GRCm39) |
Q893* |
probably null |
Het |
| Morc3 |
C |
T |
16: 93,663,341 (GRCm39) |
H515Y |
possibly damaging |
Het |
| Mprip |
A |
T |
11: 59,648,547 (GRCm39) |
R750S |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,335,691 (GRCm39) |
V1436M |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,344,406 (GRCm39) |
R69* |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,410,449 (GRCm39) |
Y1274F |
unknown |
Het |
| Mybpc1 |
A |
G |
10: 88,378,318 (GRCm39) |
L674P |
probably damaging |
Het |
| Mypn |
A |
G |
10: 62,966,802 (GRCm39) |
V958A |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,326,302 (GRCm39) |
T2436A |
probably benign |
Het |
| Or7g20 |
A |
G |
9: 18,946,443 (GRCm39) |
D8G |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,826 (GRCm39) |
L402Q |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,171,053 (GRCm39) |
|
probably null |
Het |
| Rp1 |
A |
G |
1: 4,418,685 (GRCm39) |
L809P |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,325,125 (GRCm39) |
|
probably benign |
Het |
| Sdf2 |
A |
T |
11: 78,136,906 (GRCm39) |
M29L |
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,100,350 (GRCm39) |
L311V |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,523,634 (GRCm39) |
Y349* |
probably null |
Het |
| Spidr |
A |
C |
16: 15,932,733 (GRCm39) |
C182W |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,261,999 (GRCm39) |
S146R |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,581,307 (GRCm39) |
V145A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 59,019,175 (GRCm39) |
|
probably null |
Het |
| Tcp11l2 |
T |
A |
10: 84,430,661 (GRCm39) |
|
probably benign |
Het |
| Tfdp2 |
C |
T |
9: 96,199,627 (GRCm39) |
P74S |
unknown |
Het |
| Tmprss15 |
C |
T |
16: 78,854,547 (GRCm39) |
R287H |
probably benign |
Het |
| Trav10d |
T |
C |
14: 53,048,779 (GRCm39) |
Y57H |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,733 (GRCm39) |
I846T |
probably benign |
Het |
| Ywhah |
T |
A |
5: 33,184,292 (GRCm39) |
M165K |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,703,293 (GRCm39) |
P72T |
probably benign |
Het |
|
| Other mutations in Ccser1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Ccser1
|
APN |
6 |
62,357,126 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL00858:Ccser1
|
APN |
6 |
61,787,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL01012:Ccser1
|
APN |
6 |
61,615,474 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01391:Ccser1
|
APN |
6 |
61,615,505 (GRCm39) |
splice site |
probably benign |
|
|
IGL01643:Ccser1
|
APN |
6 |
61,288,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01767:Ccser1
|
APN |
6 |
61,695,136 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02081:Ccser1
|
APN |
6 |
61,288,152 (GRCm39) |
nonsense |
probably null |
|
|
IGL02152:Ccser1
|
APN |
6 |
61,288,692 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02870:Ccser1
|
APN |
6 |
61,288,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02890:Ccser1
|
APN |
6 |
62,356,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03147:Ccser1
|
UTSW |
6 |
61,289,144 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0020:Ccser1
|
UTSW |
6 |
61,290,788 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0831:Ccser1
|
UTSW |
6 |
61,400,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1306:Ccser1
|
UTSW |
6 |
62,357,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1441:Ccser1
|
UTSW |
6 |
62,357,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1650:Ccser1
|
UTSW |
6 |
61,615,474 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1653:Ccser1
|
UTSW |
6 |
61,288,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1913:Ccser1
|
UTSW |
6 |
62,356,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1961:Ccser1
|
UTSW |
6 |
61,290,630 (GRCm39) |
splice site |
probably benign |
|
|
R2030:Ccser1
|
UTSW |
6 |
61,288,547 (GRCm39) |
missense |
probably benign |
|
|
R2056:Ccser1
|
UTSW |
6 |
61,399,936 (GRCm39) |
splice site |
probably null |
|
|
R2268:Ccser1
|
UTSW |
6 |
61,547,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Ccser1
|
UTSW |
6 |
61,547,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Ccser1
|
UTSW |
6 |
61,547,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2571:Ccser1
|
UTSW |
6 |
61,399,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Ccser1
|
UTSW |
6 |
61,288,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4711:Ccser1
|
UTSW |
6 |
61,288,910 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4770:Ccser1
|
UTSW |
6 |
61,288,485 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4932:Ccser1
|
UTSW |
6 |
61,695,175 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5078:Ccser1
|
UTSW |
6 |
61,288,350 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5097:Ccser1
|
UTSW |
6 |
61,289,144 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5221:Ccser1
|
UTSW |
6 |
61,289,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5378:Ccser1
|
UTSW |
6 |
61,288,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5604:Ccser1
|
UTSW |
6 |
61,290,788 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5700:Ccser1
|
UTSW |
6 |
61,288,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6257:Ccser1
|
UTSW |
6 |
62,356,769 (GRCm39) |
missense |
probably benign |
|
|
R6257:Ccser1
|
UTSW |
6 |
61,350,946 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6375:Ccser1
|
UTSW |
6 |
61,288,152 (GRCm39) |
nonsense |
probably null |
|
|
R6703:Ccser1
|
UTSW |
6 |
61,615,495 (GRCm39) |
nonsense |
probably null |
|
|
R6930:Ccser1
|
UTSW |
6 |
62,357,009 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7256:Ccser1
|
UTSW |
6 |
61,288,851 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7362:Ccser1
|
UTSW |
6 |
61,787,864 (GRCm39) |
missense |
unknown |
|
|
R7508:Ccser1
|
UTSW |
6 |
61,547,707 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7532:Ccser1
|
UTSW |
6 |
62,356,915 (GRCm39) |
nonsense |
probably null |
|
|
R7533:Ccser1
|
UTSW |
6 |
61,615,474 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7729:Ccser1
|
UTSW |
6 |
61,288,840 (GRCm39) |
missense |
probably benign |
|
|
R7875:Ccser1
|
UTSW |
6 |
61,288,932 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8055:Ccser1
|
UTSW |
6 |
61,290,757 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8396:Ccser1
|
UTSW |
6 |
61,289,088 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8724:Ccser1
|
UTSW |
6 |
61,288,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8849:Ccser1
|
UTSW |
6 |
61,288,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8906:Ccser1
|
UTSW |
6 |
61,787,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9058:Ccser1
|
UTSW |
6 |
61,350,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTCCACCATAAGAAGGG -3'
(R):5'- AGTGGATTGGCTCTGAGGAAC -3'
Sequencing Primer
(F):5'- CTTCCACCATAAGAAGGGCAGTG -3'
(R):5'- ATTGGCTCTGAGGAACCGACTTAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation