Incidental Mutation 'IGL01012:Ccser1'
| ID |
53614 |
| 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 # |
IGL01012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61615474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 659
(T659A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000067307]
[ENSMUST00000126214]
|
| AlphaFold |
Q8C0C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045522
AA Change: T659A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: T659A
| 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: ENSMUST00000067307
AA Change: T147A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000067639
Gene: ENSMUSG00000039578
AA Change: T147A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
coiled coil region
|
162 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126214
AA Change: T659A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: T659A
| 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 |
unknown
Transcript: ENSMUST00000134710
AA Change: T87A
|
| SMART Domains |
Protein: ENSMUSP00000122633
Gene: ENSMUSG00000039578
AA Change: T87A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
coiled coil region
|
102 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145554
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
T |
18: 61,972,772 (GRCm39) |
M249K |
possibly damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,260,426 (GRCm39) |
F879S |
possibly damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,918,693 (GRCm39) |
E30G |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,037,831 (GRCm39) |
|
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,885,791 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,029,977 (GRCm39) |
S921P |
probably damaging |
Het |
| Atp6v0e2 |
T |
C |
6: 48,514,749 (GRCm39) |
I22T |
probably damaging |
Het |
| AY074887 |
C |
T |
9: 54,857,963 (GRCm39) |
|
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,730 (GRCm39) |
D65E |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,507 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
G |
A |
10: 58,376,737 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
A |
G |
8: 129,904,838 (GRCm39) |
T159A |
possibly damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,123 (GRCm39) |
I241F |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,945,477 (GRCm39) |
N192K |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 15,967,341 (GRCm39) |
K3174R |
probably benign |
Het |
| Dpy30 |
A |
T |
17: 74,614,749 (GRCm39) |
L65I |
probably damaging |
Het |
| Eci2 |
A |
T |
13: 35,174,312 (GRCm39) |
L83* |
probably null |
Het |
| F7 |
A |
T |
8: 13,083,409 (GRCm39) |
E183V |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,935,512 (GRCm39) |
K214R |
probably benign |
Het |
| Galr2 |
A |
T |
11: 116,173,996 (GRCm39) |
T209S |
probably damaging |
Het |
| Gimap9 |
T |
C |
6: 48,654,851 (GRCm39) |
|
probably null |
Het |
| Gip |
C |
A |
11: 95,916,285 (GRCm39) |
F28L |
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,542 (GRCm39) |
N662S |
probably benign |
Het |
| Grik2 |
T |
G |
10: 49,149,052 (GRCm39) |
D511A |
probably damaging |
Het |
| Ift122 |
T |
A |
6: 115,876,452 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,690,561 (GRCm39) |
|
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,511 (GRCm39) |
E332G |
probably damaging |
Het |
| Itgb7 |
G |
A |
15: 102,136,020 (GRCm39) |
S5L |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,246,659 (GRCm39) |
R1087W |
probably damaging |
Het |
| Katnal2 |
C |
A |
18: 77,105,250 (GRCm39) |
V66F |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,900 (GRCm39) |
D284G |
probably benign |
Het |
| Krtap4-8 |
T |
A |
11: 99,670,831 (GRCm39) |
|
probably benign |
Het |
| Map1s |
C |
A |
8: 71,366,554 (GRCm39) |
N486K |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,872,093 (GRCm39) |
D842N |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,803,714 (GRCm39) |
M306K |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,022,159 (GRCm39) |
V377I |
probably benign |
Het |
| Myocd |
C |
T |
11: 65,075,451 (GRCm39) |
G558R |
possibly damaging |
Het |
| Nars1 |
G |
T |
18: 64,638,039 (GRCm39) |
A305E |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,086,373 (GRCm39) |
N5233K |
probably benign |
Het |
| Nipsnap2 |
T |
C |
5: 129,823,503 (GRCm39) |
I181T |
possibly damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,661 (GRCm39) |
M81L |
probably benign |
Het |
| Or1s2 |
T |
C |
19: 13,758,937 (GRCm39) |
|
probably benign |
Het |
| P3h2 |
A |
C |
16: 25,805,998 (GRCm39) |
C282G |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,268 (GRCm39) |
C167S |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,526 (GRCm39) |
|
probably benign |
Het |
| Peli2 |
C |
T |
14: 48,490,187 (GRCm39) |
R169* |
probably null |
Het |
| Pramel16 |
T |
A |
4: 143,676,784 (GRCm39) |
|
probably benign |
Het |
| Psme3ip1 |
G |
A |
8: 95,313,990 (GRCm39) |
R104W |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,263,659 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Scap |
C |
A |
9: 110,191,488 (GRCm39) |
P50H |
probably damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,257 (GRCm39) |
D125E |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,945,560 (GRCm39) |
|
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,964,195 (GRCm39) |
V346A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,808,880 (GRCm39) |
N129I |
probably damaging |
Het |
| Sod2 |
C |
T |
17: 13,232,464 (GRCm39) |
A163V |
possibly damaging |
Het |
| Spred3 |
T |
A |
7: 28,860,948 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
C |
A |
9: 100,737,912 (GRCm39) |
A423E |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,196 (GRCm39) |
S261T |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,769,152 (GRCm39) |
K58E |
probably damaging |
Het |
| Timm10b |
C |
A |
7: 105,290,345 (GRCm39) |
Y79* |
probably null |
Het |
| Tmem204 |
T |
C |
17: 25,289,329 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfrsf25 |
T |
C |
4: 152,202,885 (GRCm39) |
V181A |
probably benign |
Het |
| Trim54 |
T |
G |
5: 31,294,302 (GRCm39) |
S313A |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,078,714 (GRCm39) |
D1433E |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,706,555 (GRCm39) |
T462A |
probably benign |
Het |
| Wdr27 |
T |
A |
17: 15,146,509 (GRCm39) |
H162L |
probably damaging |
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 |
|
|
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 |
|
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 |
2013-06-28 |
Incidental Mutation