Incidental Mutation 'R1653:Ccser1'
| ID |
188849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, C130092O11Rik, Fam190a |
| MMRRC Submission |
039689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R1653 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
61180324-62382865 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61311465 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 204
(I204K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000126214]
|
| AlphaFold |
Q8C0C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045522
AA Change: I204K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: I204K
| 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 |
probably benign
Transcript: ENSMUST00000126214
AA Change: I204K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: I204K
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 43,650,645 (GRCm38) |
C654* |
probably null |
Het |
| Adamts19 |
T |
A |
18: 58,890,293 (GRCm38) |
N253K |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,101,503 (GRCm38) |
L1162S |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,346,831 (GRCm38) |
Y574N |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,935,624 (GRCm38) |
I198V |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,994,196 (GRCm38) |
I400F |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,946,898 (GRCm38) |
Y617C |
probably damaging |
Het |
| Capn8 |
A |
G |
1: 182,623,951 (GRCm38) |
N578D |
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,624,134 (GRCm38) |
L309P |
probably benign |
Het |
| Cd276 |
T |
C |
9: 58,537,449 (GRCm38) |
T80A |
probably benign |
Het |
| Cdh3 |
T |
C |
8: 106,539,068 (GRCm38) |
S248P |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,413,520 (GRCm38) |
T659A |
possibly damaging |
Het |
| Col6a4 |
C |
T |
9: 106,072,409 (GRCm38) |
V676I |
probably damaging |
Het |
| Crmp1 |
T |
A |
5: 37,286,468 (GRCm38) |
V575D |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,693,174 (GRCm38) |
Q1795* |
probably null |
Het |
| Gcnt3 |
A |
G |
9: 70,035,077 (GRCm38) |
C70R |
probably damaging |
Het |
| Gm12258 |
T |
C |
11: 58,858,287 (GRCm38) |
I96T |
possibly damaging |
Het |
| Gpr183 |
A |
G |
14: 121,954,263 (GRCm38) |
F282S |
probably damaging |
Het |
| Igfals |
T |
C |
17: 24,881,078 (GRCm38) |
V381A |
probably benign |
Het |
| Irs3 |
C |
A |
5: 137,644,521 (GRCm38) |
L218F |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,602,481 (GRCm38) |
F410S |
probably damaging |
Het |
| Klc4 |
T |
C |
17: 46,631,859 (GRCm38) |
Y593C |
possibly damaging |
Het |
| Lce1h |
T |
A |
3: 92,763,443 (GRCm38) |
Q134L |
unknown |
Het |
| Lyst |
T |
C |
13: 13,635,226 (GRCm38) |
S494P |
probably damaging |
Het |
| Marchf3 |
A |
G |
18: 56,811,895 (GRCm38) |
M42T |
probably benign |
Het |
| Myh7 |
A |
G |
14: 54,990,789 (GRCm38) |
I250T |
probably benign |
Het |
| N4bp1 |
G |
T |
8: 86,844,948 (GRCm38) |
H807Q |
probably benign |
Het |
| Ndn |
C |
T |
7: 62,348,508 (GRCm38) |
P34L |
probably benign |
Het |
| Nfs1 |
C |
T |
2: 156,125,336 (GRCm38) |
G44D |
probably damaging |
Het |
| Nrg1 |
C |
T |
8: 31,818,653 (GRCm38) |
R445H |
probably damaging |
Het |
| Or14c43 |
T |
C |
7: 86,466,212 (GRCm38) |
V267A |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,490,772 (GRCm38) |
F64Y |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 105,143,870 (GRCm38) |
D141V |
possibly damaging |
Het |
| Pak5 |
C |
T |
2: 136,116,887 (GRCm38) |
V94M |
probably damaging |
Het |
| Pdk1 |
G |
A |
2: 71,888,995 (GRCm38) |
|
probably null |
Het |
| Sin3b |
G |
T |
8: 72,741,519 (GRCm38) |
V290L |
probably benign |
Het |
| Sirt1 |
T |
C |
10: 63,321,809 (GRCm38) |
T609A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,490,678 (GRCm38) |
S1289T |
unknown |
Het |
| Slc32a1 |
A |
T |
2: 158,614,889 (GRCm38) |
H488L |
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 38,955,798 (GRCm38) |
S18P |
probably benign |
Het |
| Spaca7 |
T |
A |
8: 12,586,501 (GRCm38) |
I109K |
possibly damaging |
Het |
| Tmem204 |
A |
G |
17: 25,080,527 (GRCm38) |
L6P |
possibly damaging |
Het |
| Tubgcp6 |
G |
A |
15: 89,107,442 (GRCm38) |
R651C |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,607,272 (GRCm38) |
L1117* |
probably null |
Het |
| Wdcp |
T |
C |
12: 4,851,815 (GRCm38) |
L557P |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 107,483,410 (GRCm38) |
F140S |
possibly damaging |
Het |
| Zfp429 |
C |
T |
13: 67,389,924 (GRCm38) |
R467H |
possibly damaging |
Het |
| Zfp747l1 |
G |
T |
7: 127,384,480 (GRCm38) |
H483Q |
possibly damaging |
Het |
| Zfp839 |
T |
A |
12: 110,855,250 (GRCm38) |
M166K |
probably benign |
Het |
| Zfyve9 |
G |
A |
4: 108,660,577 (GRCm38) |
Q1106* |
probably null |
Het |
| Zrsr2-ps1 |
T |
A |
11: 22,974,158 (GRCm38) |
C311S |
probably damaging |
Het |
|
| Other mutations in Ccser1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Ccser1
|
APN |
6 |
62,380,142 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL00858:Ccser1
|
APN |
6 |
61,810,665 (GRCm38) |
nonsense |
probably null |
|
|
IGL01012:Ccser1
|
APN |
6 |
61,638,490 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01391:Ccser1
|
APN |
6 |
61,638,521 (GRCm38) |
splice site |
probably benign |
|
|
IGL01643:Ccser1
|
APN |
6 |
61,311,855 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01767:Ccser1
|
APN |
6 |
61,718,152 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02081:Ccser1
|
APN |
6 |
61,311,168 (GRCm38) |
nonsense |
probably null |
|
|
IGL02152:Ccser1
|
APN |
6 |
61,311,708 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL02870:Ccser1
|
APN |
6 |
61,311,292 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02890:Ccser1
|
APN |
6 |
62,379,831 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03147:Ccser1
|
UTSW |
6 |
61,312,160 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0020:Ccser1
|
UTSW |
6 |
61,313,804 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0831:Ccser1
|
UTSW |
6 |
61,423,061 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1306:Ccser1
|
UTSW |
6 |
62,380,106 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1441:Ccser1
|
UTSW |
6 |
62,380,032 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1650:Ccser1
|
UTSW |
6 |
61,638,490 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1913:Ccser1
|
UTSW |
6 |
62,379,894 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1961:Ccser1
|
UTSW |
6 |
61,313,646 (GRCm38) |
splice site |
probably benign |
|
|
R2030:Ccser1
|
UTSW |
6 |
61,311,563 (GRCm38) |
missense |
probably benign |
|
|
R2056:Ccser1
|
UTSW |
6 |
61,422,952 (GRCm38) |
splice site |
probably null |
|
|
R2268:Ccser1
|
UTSW |
6 |
61,570,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2280:Ccser1
|
UTSW |
6 |
61,570,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2281:Ccser1
|
UTSW |
6 |
61,570,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2571:Ccser1
|
UTSW |
6 |
61,422,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4606:Ccser1
|
UTSW |
6 |
61,311,584 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4711:Ccser1
|
UTSW |
6 |
61,311,926 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4770:Ccser1
|
UTSW |
6 |
61,311,501 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4932:Ccser1
|
UTSW |
6 |
61,718,191 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5078:Ccser1
|
UTSW |
6 |
61,311,366 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5097:Ccser1
|
UTSW |
6 |
61,312,160 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5221:Ccser1
|
UTSW |
6 |
61,312,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5378:Ccser1
|
UTSW |
6 |
61,311,666 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5604:Ccser1
|
UTSW |
6 |
61,313,804 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5700:Ccser1
|
UTSW |
6 |
61,311,276 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5970:Ccser1
|
UTSW |
6 |
61,311,242 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6257:Ccser1
|
UTSW |
6 |
62,379,785 (GRCm38) |
missense |
probably benign |
|
|
R6257:Ccser1
|
UTSW |
6 |
61,373,962 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6375:Ccser1
|
UTSW |
6 |
61,311,168 (GRCm38) |
nonsense |
probably null |
|
|
R6703:Ccser1
|
UTSW |
6 |
61,638,511 (GRCm38) |
nonsense |
probably null |
|
|
R6930:Ccser1
|
UTSW |
6 |
62,380,025 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7256:Ccser1
|
UTSW |
6 |
61,311,867 (GRCm38) |
missense |
probably benign |
0.38 |
|
R7362:Ccser1
|
UTSW |
6 |
61,810,880 (GRCm38) |
missense |
unknown |
|
|
R7508:Ccser1
|
UTSW |
6 |
61,570,723 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7532:Ccser1
|
UTSW |
6 |
62,379,931 (GRCm38) |
nonsense |
probably null |
|
|
R7533:Ccser1
|
UTSW |
6 |
61,638,490 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7729:Ccser1
|
UTSW |
6 |
61,311,856 (GRCm38) |
missense |
probably benign |
|
|
R7875:Ccser1
|
UTSW |
6 |
61,311,948 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8055:Ccser1
|
UTSW |
6 |
61,313,773 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R8396:Ccser1
|
UTSW |
6 |
61,312,104 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8724:Ccser1
|
UTSW |
6 |
61,311,215 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8849:Ccser1
|
UTSW |
6 |
61,311,553 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8906:Ccser1
|
UTSW |
6 |
61,810,858 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9058:Ccser1
|
UTSW |
6 |
61,373,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGACACTCTGTGGGTTTCAGC -3'
(R):5'- GGAAAGGCATCTGCCTCAGACAAAG -3'
Sequencing Primer
(F):5'- GGTTTCAGCAGTTCACGAAG -3'
(R):5'- CTTCAGTCAAGGCCAAAAATTCTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation