Incidental Mutation 'R5078:Ccser1'
| ID |
386959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser1
|
| Ensembl Gene |
ENSMUSG00000039578 |
| Gene Name |
coiled-coil serine rich 1 |
| Synonyms |
6230405M12Rik, C130092O11Rik, Fam190a |
| MMRRC Submission |
042667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R5078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
61180324-62382865 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61311366 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 171
(R171H)
|
| 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: R171H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: R171H
| 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: R171H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: R171H
| 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 |
0.1569 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
T |
C |
16: 4,323,907 (GRCm38) |
S345G |
probably benign |
Het |
| Adgrf2 |
A |
T |
17: 42,710,986 (GRCm38) |
F316I |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,942,353 (GRCm38) |
|
probably benign |
Het |
| Auts2 |
T |
C |
5: 132,258,947 (GRCm38) |
K66E |
possibly damaging |
Het |
| Bicra |
T |
C |
7: 15,975,457 (GRCm38) |
D1144G |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,721,478 (GRCm38) |
S1109P |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,945,373 (GRCm38) |
V29A |
probably damaging |
Het |
| Ccdc178 |
A |
T |
18: 22,067,628 (GRCm38) |
|
probably null |
Het |
| Cdk19 |
A |
G |
10: 40,436,154 (GRCm38) |
Y133C |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,393,008 (GRCm38) |
D123V |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,726,354 (GRCm38) |
S121P |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,443,936 (GRCm38) |
V1459A |
probably benign |
Het |
| Dlg1 |
T |
A |
16: 31,856,469 (GRCm38) |
Y704* |
probably null |
Het |
| Dsg2 |
T |
C |
18: 20,596,083 (GRCm38) |
|
probably null |
Het |
| Egln3 |
T |
C |
12: 54,181,667 (GRCm38) |
R218G |
probably damaging |
Het |
| Gm11568 |
T |
C |
11: 99,858,355 (GRCm38) |
C129R |
unknown |
Het |
| Gm13991 |
T |
C |
2: 116,527,874 (GRCm38) |
|
noncoding transcript |
Het |
| Gmnc |
C |
A |
16: 26,965,582 (GRCm38) |
V58L |
probably benign |
Het |
| Gpx5 |
A |
G |
13: 21,288,711 (GRCm38) |
F151S |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,656,096 (GRCm38) |
G1079R |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,604,850 (GRCm38) |
E1039G |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,295,142 (GRCm38) |
|
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,093,530 (GRCm38) |
T500A |
possibly damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,843,874 (GRCm38) |
K650Q |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,501,530 (GRCm38) |
D1627G |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,261,607 (GRCm38) |
K354E |
probably damaging |
Het |
| Or5d20-ps1 |
T |
A |
2: 88,101,535 (GRCm38) |
I151L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 125,752,156 (GRCm38) |
T2118A |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,777,742 (GRCm38) |
F861L |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,024,536 (GRCm38) |
Y2368H |
probably damaging |
Het |
| Pnp |
T |
A |
14: 50,951,506 (GRCm38) |
L252* |
probably null |
Het |
| Prom2 |
T |
C |
2: 127,531,837 (GRCm38) |
Q641R |
probably benign |
Het |
| Prpf31 |
T |
C |
7: 3,634,703 (GRCm38) |
S180P |
possibly damaging |
Het |
| Prss27 |
C |
A |
17: 24,044,440 (GRCm38) |
Y142* |
probably null |
Het |
| Ripk1 |
T |
G |
13: 34,017,099 (GRCm38) |
M265R |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,468,999 (GRCm38) |
L57F |
probably damaging |
Het |
| Ropn1 |
T |
A |
16: 34,666,791 (GRCm38) |
D32E |
probably damaging |
Het |
| Rps23 |
T |
C |
13: 90,923,703 (GRCm38) |
F41L |
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,290,552 (GRCm38) |
I127V |
probably benign |
Het |
| Selenot |
C |
T |
3: 58,585,271 (GRCm38) |
R60W |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,093,887 (GRCm38) |
K342E |
probably damaging |
Het |
| Tlx1 |
A |
T |
19: 45,156,021 (GRCm38) |
N61Y |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,460,148 (GRCm38) |
I701F |
probably damaging |
Het |
| Zmynd12 |
A |
G |
4: 119,444,850 (GRCm38) |
K229E |
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 |
|
|
R2030:Ccser1
|
UTSW |
6 |
61,311,563 (GRCm38) |
missense |
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 |
|
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'- TTTGGAGGAACACGTCAAAAC -3'
(R):5'- GCGCTCTGTTACATCCACAG -3'
Sequencing Primer
(F):5'- CCAGGGGAAGACACTCTGTG -3'
(R):5'- TCTGTTACATCCACAGAGCAAGATG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation