Incidental Mutation 'R2030:Ccser1'
| ID |
221132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, C130092O11Rik, Fam190a |
| MMRRC Submission |
040037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R2030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
61180324-62382865 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61311563 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 237
(R237C)
|
| 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: R237C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: R237C
| 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: R237C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: R237C
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
C |
T |
13: 41,828,259 (GRCm38) |
V13I |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 129,008,220 (GRCm38) |
K229E |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,422,684 (GRCm38) |
V741D |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,061,189 (GRCm38) |
M896K |
probably benign |
Het |
| Cdk7 |
A |
G |
13: 100,722,674 (GRCm38) |
|
probably benign |
Het |
| CK137956 |
A |
G |
4: 127,951,387 (GRCm38) |
S188P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,731,751 (GRCm38) |
A524V |
probably benign |
Het |
| Dbndd2 |
A |
G |
2: 164,488,643 (GRCm38) |
D72G |
probably damaging |
Het |
| Disp3 |
A |
T |
4: 148,259,966 (GRCm38) |
I493N |
probably damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,229,832 (GRCm38) |
T278S |
probably benign |
Het |
| Epx |
T |
C |
11: 87,864,824 (GRCm38) |
D678G |
probably damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,504,798 (GRCm38) |
V235L |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,794,172 (GRCm38) |
D490V |
probably damaging |
Het |
| Fuca2 |
A |
G |
10: 13,506,774 (GRCm38) |
Y268C |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,378,770 (GRCm38) |
V205I |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 100,897,821 (GRCm38) |
R437K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,184,373 (GRCm38) |
S3109G |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,571,448 (GRCm38) |
R1117H |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,033,577 (GRCm38) |
D324V |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,459,537 (GRCm38) |
Y241C |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,489,072 (GRCm38) |
L1072F |
probably damaging |
Het |
| Lrrc52 |
T |
C |
1: 167,466,459 (GRCm38) |
N86D |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,211,262 (GRCm38) |
T26A |
probably damaging |
Het |
| Mre11a |
A |
T |
9: 14,795,805 (GRCm38) |
N117Y |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,447,328 (GRCm38) |
S279T |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,350,238 (GRCm38) |
S814A |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,176,715 (GRCm38) |
V679A |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,350,287 (GRCm38) |
V1007D |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,228,417 (GRCm38) |
H960L |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,155,943 (GRCm38) |
M263K |
possibly damaging |
Het |
| Or4a72 |
C |
T |
2: 89,575,214 (GRCm38) |
V171I |
probably benign |
Het |
| Or7e169 |
A |
G |
9: 19,846,413 (GRCm38) |
S69P |
probably benign |
Het |
| Pklr |
A |
G |
3: 89,143,238 (GRCm38) |
Y402C |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 143,132,764 (GRCm38) |
T1319A |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 52,092,346 (GRCm38) |
V541E |
probably damaging |
Het |
| Ryk |
T |
A |
9: 102,881,656 (GRCm38) |
I248N |
possibly damaging |
Het |
| Shisa2 |
A |
T |
14: 59,629,685 (GRCm38) |
I129F |
probably damaging |
Het |
| Snap25 |
T |
G |
2: 136,770,053 (GRCm38) |
|
probably benign |
Het |
| Snx31 |
G |
A |
15: 36,525,702 (GRCm38) |
P284S |
probably benign |
Het |
| Spata31g1 |
C |
T |
4: 42,974,131 (GRCm38) |
Q1155* |
probably null |
Het |
| Tas2r137 |
A |
G |
6: 40,492,220 (GRCm38) |
K328R |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,055,250 (GRCm38) |
T182A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,064,958 (GRCm38) |
R35C |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,718,469 (GRCm38) |
N3811Y |
probably damaging |
Het |
| Tpte |
A |
C |
8: 22,345,885 (GRCm38) |
N428T |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,854,265 (GRCm38) |
D1498G |
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,623,470 (GRCm38) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,872,933 (GRCm38) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 25,826,043 (GRCm38) |
I251V |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 129,006,086 (GRCm38) |
Y278H |
probably damaging |
Het |
| Zfat |
A |
G |
15: 68,118,934 (GRCm38) |
|
probably null |
Het |
| Zfp442 |
A |
T |
2: 150,408,122 (GRCm38) |
V620E |
possibly damaging |
Het |
| Zfp788 |
A |
G |
7: 41,649,560 (GRCm38) |
H540R |
probably damaging |
Het |
|
| Other mutations in Ccser1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Ccser1
|
APN |
6 |
62,380,142 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL00858:Ccser1
|
APN |
6 |
61,810,665 (GRCm38) |
nonsense |
probably null |
|
|
IGL01012:Ccser1
|
APN |
6 |
61,638,490 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01391:Ccser1
|
APN |
6 |
61,638,521 (GRCm38) |
splice site |
probably benign |
|
|
IGL01643:Ccser1
|
APN |
6 |
61,311,855 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01767:Ccser1
|
APN |
6 |
61,718,152 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02081:Ccser1
|
APN |
6 |
61,311,168 (GRCm38) |
nonsense |
probably null |
|
|
IGL02152:Ccser1
|
APN |
6 |
61,311,708 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL02870:Ccser1
|
APN |
6 |
61,311,292 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02890:Ccser1
|
APN |
6 |
62,379,831 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03147:Ccser1
|
UTSW |
6 |
61,312,160 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0020:Ccser1
|
UTSW |
6 |
61,313,804 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0831:Ccser1
|
UTSW |
6 |
61,423,061 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1306:Ccser1
|
UTSW |
6 |
62,380,106 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1441:Ccser1
|
UTSW |
6 |
62,380,032 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1650:Ccser1
|
UTSW |
6 |
61,638,490 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1653:Ccser1
|
UTSW |
6 |
61,311,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1913:Ccser1
|
UTSW |
6 |
62,379,894 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1961:Ccser1
|
UTSW |
6 |
61,313,646 (GRCm38) |
splice site |
probably benign |
|
|
R2056:Ccser1
|
UTSW |
6 |
61,422,952 (GRCm38) |
splice site |
probably null |
|
|
R2268:Ccser1
|
UTSW |
6 |
61,570,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2280:Ccser1
|
UTSW |
6 |
61,570,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2281:Ccser1
|
UTSW |
6 |
61,570,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2571:Ccser1
|
UTSW |
6 |
61,422,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4606:Ccser1
|
UTSW |
6 |
61,311,584 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4711:Ccser1
|
UTSW |
6 |
61,311,926 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4770:Ccser1
|
UTSW |
6 |
61,311,501 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4932:Ccser1
|
UTSW |
6 |
61,718,191 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5078:Ccser1
|
UTSW |
6 |
61,311,366 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5097:Ccser1
|
UTSW |
6 |
61,312,160 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5221:Ccser1
|
UTSW |
6 |
61,312,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5378:Ccser1
|
UTSW |
6 |
61,311,666 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5604:Ccser1
|
UTSW |
6 |
61,313,804 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5700:Ccser1
|
UTSW |
6 |
61,311,276 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5970:Ccser1
|
UTSW |
6 |
61,311,242 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6257:Ccser1
|
UTSW |
6 |
62,379,785 (GRCm38) |
missense |
probably benign |
|
|
R6257:Ccser1
|
UTSW |
6 |
61,373,962 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6375:Ccser1
|
UTSW |
6 |
61,311,168 (GRCm38) |
nonsense |
probably null |
|
|
R6703:Ccser1
|
UTSW |
6 |
61,638,511 (GRCm38) |
nonsense |
probably null |
|
|
R6930:Ccser1
|
UTSW |
6 |
62,380,025 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7256:Ccser1
|
UTSW |
6 |
61,311,867 (GRCm38) |
missense |
probably benign |
0.38 |
|
R7362:Ccser1
|
UTSW |
6 |
61,810,880 (GRCm38) |
missense |
unknown |
|
|
R7508:Ccser1
|
UTSW |
6 |
61,570,723 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7532:Ccser1
|
UTSW |
6 |
62,379,931 (GRCm38) |
nonsense |
probably null |
|
|
R7533:Ccser1
|
UTSW |
6 |
61,638,490 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7729:Ccser1
|
UTSW |
6 |
61,311,856 (GRCm38) |
missense |
probably benign |
|
|
R7875:Ccser1
|
UTSW |
6 |
61,311,948 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8055:Ccser1
|
UTSW |
6 |
61,313,773 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R8396:Ccser1
|
UTSW |
6 |
61,312,104 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8724:Ccser1
|
UTSW |
6 |
61,311,215 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8849:Ccser1
|
UTSW |
6 |
61,311,553 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8906:Ccser1
|
UTSW |
6 |
61,810,858 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9058:Ccser1
|
UTSW |
6 |
61,373,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACGATTCTGGATTCACAG -3'
(R):5'- GAGAGGTAGCATCATTGTGGCC -3'
Sequencing Primer
(F):5'- AAGTCGCCGTTCTATTAAACAGTCC -3'
(R):5'- CCAAAATTGTCACAGTGTGATGCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation