Incidental Mutation 'IGL02890:Ccser1'
| ID |
363160 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL02890
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62356815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 751
(D751G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000126214]
[ENSMUST00000232648]
|
| AlphaFold |
Q8C0C4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045522
AA Change: D751G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: D751G
| 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 damaging
Transcript: ENSMUST00000126214
AA Change: D751G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: D751G
| 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 |
silent
Transcript: ENSMUST00000232648
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
T |
8: 41,278,190 (GRCm39) |
I194L |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,631,855 (GRCm39) |
V171A |
probably damaging |
Het |
| Camk2b |
A |
T |
11: 5,951,340 (GRCm39) |
D91E |
possibly damaging |
Het |
| D6Wsu163e |
G |
A |
6: 126,951,450 (GRCm39) |
G500D |
probably damaging |
Het |
| Dchs1 |
G |
T |
7: 105,405,698 (GRCm39) |
D2395E |
probably damaging |
Het |
| Entrep3 |
A |
T |
3: 89,094,089 (GRCm39) |
T223S |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,636 (GRCm39) |
T4439A |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,637,531 (GRCm39) |
|
probably null |
Het |
| Galnt14 |
A |
C |
17: 73,816,519 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
C |
11: 76,102,090 (GRCm39) |
S890R |
probably damaging |
Het |
| Glrp1 |
T |
A |
1: 88,437,510 (GRCm39) |
|
probably null |
Het |
| Grik1 |
A |
G |
16: 87,693,690 (GRCm39) |
|
probably benign |
Het |
| H2bc14 |
G |
T |
13: 21,906,356 (GRCm39) |
R30L |
probably benign |
Het |
| Hspa12a |
C |
T |
19: 58,809,431 (GRCm39) |
|
probably null |
Het |
| Hykk |
C |
T |
9: 54,827,995 (GRCm39) |
P78L |
probably benign |
Het |
| Kctd13 |
G |
A |
7: 126,529,903 (GRCm39) |
G115R |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,206,185 (GRCm39) |
|
probably null |
Het |
| Mat2a |
A |
G |
6: 72,413,229 (GRCm39) |
L167P |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,173,456 (GRCm39) |
E532G |
probably damaging |
Het |
| Nrbp2 |
G |
T |
15: 75,961,306 (GRCm39) |
L272M |
probably damaging |
Het |
| Nrdc |
A |
G |
4: 108,911,116 (GRCm39) |
D790G |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,728,368 (GRCm39) |
T18S |
probably benign |
Het |
| Or5k16 |
T |
C |
16: 58,736,737 (GRCm39) |
D89G |
probably benign |
Het |
| Or8g26 |
T |
C |
9: 39,095,564 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,347,052 (GRCm39) |
H949L |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,269,956 (GRCm39) |
Y547C |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,431,235 (GRCm39) |
V2392D |
probably damaging |
Het |
| Ppp1r3g |
A |
T |
13: 36,153,314 (GRCm39) |
T245S |
probably damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,567 (GRCm39) |
N439S |
possibly damaging |
Het |
| Radil |
A |
G |
5: 142,529,463 (GRCm39) |
Y78H |
probably damaging |
Het |
| Ric8b |
A |
T |
10: 84,837,731 (GRCm39) |
M513L |
possibly damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,117,260 (GRCm39) |
S740P |
probably damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,454,478 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
G |
A |
7: 117,784,724 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,748,853 (GRCm39) |
M1I |
probably null |
Het |
| Tmc5 |
A |
T |
7: 118,244,653 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
C |
T |
1: 44,038,850 (GRCm39) |
A1132V |
probably damaging |
Het |
| Ttll4 |
A |
T |
1: 74,726,498 (GRCm39) |
K699* |
probably null |
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 |
|
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 |
|
R5970:Ccser1
|
UTSW |
6 |
61,288,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation