Incidental Mutation 'IGL02152:Ccser1'
ID |
282069 |
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 # |
IGL02152
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61288692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 285
(D285G)
|
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: D285G
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040251 Gene: ENSMUSG00000039578 AA Change: D285G
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: D285G
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122894 Gene: ENSMUSG00000039578 AA Change: D285G
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
G |
5: 107,695,983 (GRCm39) |
T140A |
probably benign |
Het |
4933430I17Rik |
T |
C |
4: 62,460,991 (GRCm39) |
Y289H |
possibly damaging |
Het |
Adamts17 |
T |
A |
7: 66,774,748 (GRCm39) |
S956T |
probably benign |
Het |
Adamts6 |
A |
T |
13: 104,450,168 (GRCm39) |
S290C |
probably null |
Het |
Apaf1 |
A |
T |
10: 90,897,681 (GRCm39) |
H267Q |
probably benign |
Het |
Aplp2 |
G |
A |
9: 31,122,947 (GRCm39) |
P26L |
unknown |
Het |
Arid1b |
C |
T |
17: 5,364,243 (GRCm39) |
S1019F |
probably damaging |
Het |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Ass1 |
T |
C |
2: 31,382,336 (GRCm39) |
I169T |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,381,209 (GRCm39) |
V2737A |
probably benign |
Het |
Chrm5 |
A |
G |
2: 112,310,913 (GRCm39) |
Y68H |
probably damaging |
Het |
Cops4 |
A |
G |
5: 100,681,456 (GRCm39) |
T164A |
probably benign |
Het |
Cox4i1 |
A |
G |
8: 121,399,604 (GRCm39) |
S72G |
probably benign |
Het |
Cpox |
A |
G |
16: 58,494,787 (GRCm39) |
T275A |
possibly damaging |
Het |
Cyb5a |
T |
C |
18: 84,891,281 (GRCm39) |
I68T |
probably benign |
Het |
Efna5 |
T |
C |
17: 62,958,055 (GRCm39) |
D67G |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,649,900 (GRCm39) |
E842G |
probably damaging |
Het |
Fam210b |
A |
G |
2: 172,193,423 (GRCm39) |
K79E |
probably benign |
Het |
Gm4799 |
T |
C |
10: 82,790,589 (GRCm39) |
|
noncoding transcript |
Het |
Gpr146 |
A |
T |
5: 139,378,467 (GRCm39) |
R90W |
probably damaging |
Het |
H2ac10 |
A |
G |
13: 23,718,451 (GRCm39) |
H124R |
probably benign |
Het |
Hal |
A |
G |
10: 93,339,404 (GRCm39) |
I498V |
possibly damaging |
Het |
Hnrnpm |
C |
T |
17: 33,877,386 (GRCm39) |
G365R |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,627,217 (GRCm39) |
D407G |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,405,536 (GRCm39) |
I1185V |
possibly damaging |
Het |
Kcnj16 |
A |
T |
11: 110,916,036 (GRCm39) |
M233L |
probably benign |
Het |
Klhl5 |
A |
T |
5: 65,306,143 (GRCm39) |
Q370L |
probably damaging |
Het |
L3hypdh |
C |
T |
12: 72,123,917 (GRCm39) |
|
probably null |
Het |
Las1l |
A |
G |
X: 94,996,908 (GRCm39) |
V130A |
probably damaging |
Het |
Liat1 |
A |
G |
11: 75,894,051 (GRCm39) |
I143V |
probably benign |
Het |
Lrp2bp |
A |
T |
8: 46,476,081 (GRCm39) |
Y274F |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,356,917 (GRCm39) |
K285M |
probably damaging |
Het |
Mpp3 |
A |
T |
11: 101,916,216 (GRCm39) |
Y45* |
probably null |
Het |
Muc4 |
T |
A |
16: 32,598,023 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,353,914 (GRCm39) |
C837R |
possibly damaging |
Het |
Nr2f6 |
T |
A |
8: 71,828,810 (GRCm39) |
I155F |
probably damaging |
Het |
Nsg1 |
A |
G |
5: 38,302,145 (GRCm39) |
F50L |
probably benign |
Het |
Or14a258 |
T |
A |
7: 86,035,251 (GRCm39) |
M206L |
probably benign |
Het |
Ostf1 |
C |
A |
19: 18,567,822 (GRCm39) |
G101C |
probably damaging |
Het |
Pam |
C |
T |
1: 97,768,474 (GRCm39) |
R552Q |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,395,924 (GRCm39) |
N2108S |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,487,149 (GRCm39) |
H484L |
probably benign |
Het |
Pwwp3a |
A |
G |
10: 80,075,812 (GRCm39) |
D466G |
probably damaging |
Het |
Rfx5 |
G |
A |
3: 94,864,493 (GRCm39) |
R213Q |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
Sall2 |
A |
G |
14: 52,552,971 (GRCm39) |
S73P |
probably damaging |
Het |
Sec22c |
G |
A |
9: 121,513,845 (GRCm39) |
A264V |
probably benign |
Het |
Sis |
A |
C |
3: 72,796,319 (GRCm39) |
|
probably benign |
Het |
Spam1 |
T |
A |
6: 24,800,802 (GRCm39) |
|
probably benign |
Het |
Spmip2 |
T |
C |
3: 79,252,839 (GRCm39) |
I18T |
possibly damaging |
Het |
St13 |
T |
A |
15: 81,250,583 (GRCm39) |
I318F |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,374,382 (GRCm39) |
I142V |
probably damaging |
Het |
Tasor2 |
C |
T |
13: 3,635,371 (GRCm39) |
E479K |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,809,903 (GRCm39) |
T1100S |
possibly damaging |
Het |
Ttll6 |
G |
A |
11: 96,026,366 (GRCm39) |
W90* |
probably null |
Het |
Txndc12 |
T |
A |
4: 108,691,989 (GRCm39) |
C9* |
probably null |
Het |
Ubr7 |
C |
T |
12: 102,734,535 (GRCm39) |
Q270* |
probably null |
Het |
Vps33b |
A |
G |
7: 79,934,817 (GRCm39) |
S302G |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,233,997 (GRCm39) |
V508E |
probably damaging |
Het |
Zbtb26 |
A |
T |
2: 37,326,703 (GRCm39) |
L111Q |
possibly damaging |
Het |
Zfp410 |
T |
C |
12: 84,379,702 (GRCm39) |
|
probably benign |
Het |
Zscan18 |
A |
T |
7: 12,509,223 (GRCm39) |
|
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 |
|
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 |
2015-04-16 |