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, Fam190a, C130092O11Rik |
| MMRRC Submission |
039689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R1653 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61288449 bp (GRCm39)
|
| 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: 44,103,682 (GRCm39) |
C654* |
probably null |
Het |
| Adamts19 |
T |
A |
18: 59,023,365 (GRCm39) |
N253K |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,140,584 (GRCm39) |
L1162S |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,237,657 (GRCm39) |
Y574N |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,777,544 (GRCm39) |
I198V |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,901,503 (GRCm39) |
I400F |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,874,620 (GRCm39) |
Y617C |
probably damaging |
Het |
| Capn8 |
A |
G |
1: 182,451,516 (GRCm39) |
N578D |
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,624,134 (GRCm39) |
L309P |
probably benign |
Het |
| Cd276 |
T |
C |
9: 58,444,732 (GRCm39) |
T80A |
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,265,700 (GRCm39) |
S248P |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,320,836 (GRCm39) |
T659A |
possibly damaging |
Het |
| Col6a4 |
C |
T |
9: 105,949,608 (GRCm39) |
V676I |
probably damaging |
Het |
| Crmp1 |
T |
A |
5: 37,443,812 (GRCm39) |
V575D |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,841,040 (GRCm39) |
Q1795* |
probably null |
Het |
| Gcnt3 |
A |
G |
9: 69,942,359 (GRCm39) |
C70R |
probably damaging |
Het |
| Gm12258 |
T |
C |
11: 58,749,113 (GRCm39) |
I96T |
possibly damaging |
Het |
| Gpr183 |
A |
G |
14: 122,191,675 (GRCm39) |
F282S |
probably damaging |
Het |
| Igfals |
T |
C |
17: 25,100,052 (GRCm39) |
V381A |
probably benign |
Het |
| Irs3 |
C |
A |
5: 137,642,783 (GRCm39) |
L218F |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,530,219 (GRCm39) |
F410S |
probably damaging |
Het |
| Klc4 |
T |
C |
17: 46,942,785 (GRCm39) |
Y593C |
possibly damaging |
Het |
| Lce1h |
T |
A |
3: 92,670,750 (GRCm39) |
Q134L |
unknown |
Het |
| Lyst |
T |
C |
13: 13,809,811 (GRCm39) |
S494P |
probably damaging |
Het |
| Marchf3 |
A |
G |
18: 56,944,967 (GRCm39) |
M42T |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,228,246 (GRCm39) |
I250T |
probably benign |
Het |
| N4bp1 |
G |
T |
8: 87,571,576 (GRCm39) |
H807Q |
probably benign |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Nfs1 |
C |
T |
2: 155,967,256 (GRCm39) |
G44D |
probably damaging |
Het |
| Nrg1 |
C |
T |
8: 32,308,681 (GRCm39) |
R445H |
probably damaging |
Het |
| Or14c43 |
T |
C |
7: 86,115,420 (GRCm39) |
V267A |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,229 (GRCm39) |
F64Y |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,793,077 (GRCm39) |
D141V |
possibly damaging |
Het |
| Pak5 |
C |
T |
2: 135,958,807 (GRCm39) |
V94M |
probably damaging |
Het |
| Pdk1 |
G |
A |
2: 71,719,339 (GRCm39) |
|
probably null |
Het |
| Sin3b |
G |
T |
8: 73,468,147 (GRCm39) |
V290L |
probably benign |
Het |
| Sirt1 |
T |
C |
10: 63,157,588 (GRCm39) |
T609A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,347,875 (GRCm39) |
S1289T |
unknown |
Het |
| Slc32a1 |
A |
T |
2: 158,456,809 (GRCm39) |
H488L |
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,139,774 (GRCm39) |
S18P |
probably benign |
Het |
| Spaca7 |
T |
A |
8: 12,636,501 (GRCm39) |
I109K |
possibly damaging |
Het |
| Tmem204 |
A |
G |
17: 25,299,501 (GRCm39) |
L6P |
possibly damaging |
Het |
| Tubgcp6 |
G |
A |
15: 88,991,645 (GRCm39) |
R651C |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
| Wdcp |
T |
C |
12: 4,901,815 (GRCm39) |
L557P |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 108,210,042 (GRCm39) |
F140S |
possibly damaging |
Het |
| Zfp429 |
C |
T |
13: 67,538,043 (GRCm39) |
R467H |
possibly damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
| Zfp839 |
T |
A |
12: 110,821,684 (GRCm39) |
M166K |
probably benign |
Het |
| Zfyve9 |
G |
A |
4: 108,517,774 (GRCm39) |
Q1106* |
probably null |
Het |
| Zrsr2-ps1 |
T |
A |
11: 22,924,158 (GRCm39) |
C311S |
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 |
|
|
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 |
|
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 |
|
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 |
|
| 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