Incidental Mutation 'IGL02081:Ccser1'
ID |
192598 |
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 # |
IGL02081
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 61288152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 105
(L105*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000126214]
|
AlphaFold |
Q8C0C4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045522
AA Change: L105*
|
SMART Domains |
Protein: ENSMUSP00000040251 Gene: ENSMUSG00000039578 AA Change: L105*
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 null
Transcript: ENSMUST00000126214
AA Change: L105*
|
SMART Domains |
Protein: ENSMUSP00000122894 Gene: ENSMUSG00000039578 AA Change: L105*
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 |
0.9755 |
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 |
Adam26a |
G |
T |
8: 44,023,233 (GRCm39) |
L86I |
probably damaging |
Het |
Adamts17 |
C |
T |
7: 66,711,858 (GRCm39) |
R726C |
probably damaging |
Het |
Aff1 |
A |
G |
5: 103,982,171 (GRCm39) |
K778R |
probably damaging |
Het |
Agr2 |
G |
A |
12: 36,045,655 (GRCm39) |
|
probably null |
Het |
Alms1 |
T |
A |
6: 85,597,285 (GRCm39) |
C1173S |
possibly damaging |
Het |
Apol7b |
A |
G |
15: 77,307,736 (GRCm39) |
L253P |
possibly damaging |
Het |
Atp10a |
A |
T |
7: 58,477,604 (GRCm39) |
T1268S |
possibly damaging |
Het |
Atr |
A |
T |
9: 95,765,258 (GRCm39) |
K1149N |
probably damaging |
Het |
Bri3bp |
G |
A |
5: 125,518,961 (GRCm39) |
|
probably null |
Het |
Cyp4a10 |
G |
A |
4: 115,378,369 (GRCm39) |
A152T |
possibly damaging |
Het |
Dock2 |
C |
T |
11: 34,204,355 (GRCm39) |
D1396N |
probably benign |
Het |
Ext1 |
A |
T |
15: 52,936,842 (GRCm39) |
Y634* |
probably null |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Gcn1 |
A |
G |
5: 115,723,930 (GRCm39) |
K529E |
probably damaging |
Het |
H2-Q2 |
A |
G |
17: 35,561,684 (GRCm39) |
D58G |
probably damaging |
Het |
Hid1 |
T |
C |
11: 115,239,332 (GRCm39) |
D776G |
possibly damaging |
Het |
Il18r1 |
A |
T |
1: 40,537,665 (GRCm39) |
S477C |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,523,281 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
G |
10: 67,055,305 (GRCm39) |
F242V |
probably benign |
Het |
Krtap4-1 |
G |
A |
11: 99,519,010 (GRCm39) |
|
probably benign |
Het |
Mms19 |
A |
G |
19: 41,938,418 (GRCm39) |
|
probably null |
Het |
Mpdz |
T |
C |
4: 81,254,106 (GRCm39) |
T1009A |
probably damaging |
Het |
Mrpl22 |
T |
C |
11: 58,062,647 (GRCm39) |
I19T |
probably benign |
Het |
Nup88 |
A |
G |
11: 70,845,480 (GRCm39) |
|
probably benign |
Het |
Or5b94 |
A |
T |
19: 12,652,180 (GRCm39) |
I204F |
probably benign |
Het |
Pnpo |
T |
C |
11: 96,830,150 (GRCm39) |
Y183C |
probably damaging |
Het |
Poln |
C |
T |
5: 34,286,483 (GRCm39) |
M228I |
probably benign |
Het |
Scara5 |
T |
C |
14: 65,968,104 (GRCm39) |
W126R |
possibly damaging |
Het |
Scmh1 |
T |
G |
4: 120,372,275 (GRCm39) |
C359W |
probably damaging |
Het |
Snrpn |
T |
C |
7: 59,637,194 (GRCm39) |
I41V |
possibly damaging |
Het |
St8sia1 |
T |
C |
6: 142,774,953 (GRCm39) |
M209V |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,495,391 (GRCm39) |
S89T |
probably damaging |
Het |
Tet1 |
T |
C |
10: 62,649,597 (GRCm39) |
T1667A |
probably damaging |
Het |
Tmem217 |
C |
T |
17: 29,745,347 (GRCm39) |
G128S |
probably damaging |
Het |
Ttpal |
A |
G |
2: 163,457,308 (GRCm39) |
N260S |
probably benign |
Het |
Vwa2 |
A |
G |
19: 56,890,668 (GRCm39) |
D233G |
probably benign |
Het |
Wdr83 |
A |
G |
8: 85,802,472 (GRCm39) |
F258L |
probably benign |
Het |
Zfp277 |
A |
T |
12: 40,378,795 (GRCm39) |
L354* |
probably null |
Het |
Zfp516 |
A |
G |
18: 82,973,858 (GRCm39) |
R19G |
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 |
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 |
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 |
2014-05-14 |