Incidental Mutation 'R5221:Ccser1'
| ID |
402314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, Fam190a, C130092O11Rik |
| MMRRC Submission |
042794-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R5221 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
61157308-62359849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61289075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 413
(S413P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045522]
[ENSMUST00000126214]
|
| AlphaFold |
Q8C0C4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045522
AA Change: S413P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: S413P
| 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: S413P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: S413P
| 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 |
0.0835 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
C |
3: 92,335,815 (GRCm39) |
I296V |
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,613 (GRCm39) |
N67S |
possibly damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,243,525 (GRCm39) |
Y134* |
probably null |
Het |
| Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,941,784 (GRCm39) |
D34V |
probably damaging |
Het |
| C8a |
C |
T |
4: 104,703,122 (GRCm39) |
V312M |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,498,225 (GRCm39) |
N1678S |
probably benign |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,457,071 (GRCm39) |
M148K |
possibly damaging |
Het |
| Farp2 |
T |
A |
1: 93,504,140 (GRCm39) |
C306S |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,493,032 (GRCm39) |
V1828A |
probably damaging |
Het |
| Gm6457 |
T |
C |
18: 14,703,174 (GRCm39) |
|
noncoding transcript |
Het |
| Gmip |
T |
G |
8: 70,266,785 (GRCm39) |
V300G |
probably damaging |
Het |
| Gstp3 |
A |
G |
19: 4,107,607 (GRCm39) |
S186P |
probably damaging |
Het |
| Gvin-ps3 |
G |
C |
7: 105,683,181 (GRCm39) |
|
noncoding transcript |
Het |
| Kl |
G |
T |
5: 150,912,616 (GRCm39) |
L788F |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 41,002,994 (GRCm39) |
S1932A |
possibly damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,170,488 (GRCm39) |
T234A |
probably damaging |
Het |
| Mafa |
T |
A |
15: 75,618,891 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Mesp2 |
C |
T |
7: 79,461,467 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,201,092 (GRCm39) |
Y259C |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2d3c |
A |
T |
7: 106,526,268 (GRCm39) |
S133T |
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,825 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,493 (GRCm39) |
N294D |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,493,148 (GRCm39) |
T192S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,741,193 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
T |
C |
6: 89,297,998 (GRCm39) |
D1760G |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,862,540 (GRCm39) |
D345E |
probably damaging |
Het |
| Ppp1r14a |
T |
A |
7: 28,988,926 (GRCm39) |
I56N |
probably damaging |
Het |
| Ppp1r1a |
G |
A |
15: 103,441,477 (GRCm39) |
P79S |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,082,305 (GRCm39) |
R1010H |
probably benign |
Het |
| Rai1 |
A |
G |
11: 60,081,423 (GRCm39) |
E1829G |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,986,935 (GRCm39) |
Y31H |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,609,280 (GRCm39) |
S69G |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,752,121 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Sltm |
T |
G |
9: 70,486,685 (GRCm39) |
L450R |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,439,404 (GRCm39) |
|
probably null |
Het |
| Tmem68 |
T |
C |
4: 3,560,561 (GRCm39) |
T208A |
possibly damaging |
Het |
| Tnc |
T |
A |
4: 63,911,534 (GRCm39) |
R1346* |
probably null |
Het |
| Tpbg |
T |
C |
9: 85,726,478 (GRCm39) |
L149P |
probably damaging |
Het |
| Trappc14 |
C |
T |
5: 138,260,502 (GRCm39) |
S308N |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,198,816 (GRCm39) |
Q585* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,085 (GRCm39) |
C733S |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,672,684 (GRCm39) |
H106Q |
probably benign |
Het |
| Wscd1 |
G |
T |
11: 71,659,501 (GRCm39) |
G194W |
possibly damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,016,887 (GRCm39) |
V870E |
possibly 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 |
|
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 |
|
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'- CATTCTTCACCAGAGACCCCTG -3'
(R):5'- CCTTTCATTCACGATATGGCG -3'
Sequencing Primer
(F):5'- AGAGACCCCTGCTGGTAAC -3'
(R):5'- TTCACGATATGGCGTAAAAATAATTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation