Incidental Mutation 'R2349:C1s1'
ID |
266120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1s1
|
Ensembl Gene |
ENSMUSG00000038521 |
Gene Name |
complement component 1, s subcomponent 1 |
Synonyms |
C1s |
MMRRC Submission |
040331-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R2349 (G1)
|
Quality Score |
156 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124507304-124519318 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
C to A
at 124518432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159463]
[ENSMUST00000160505]
[ENSMUST00000162443]
[ENSMUST00000162844]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159143
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159463
|
SMART Domains |
Protein: ENSMUSP00000125439 Gene: ENSMUSG00000038521
Domain | Start | End | E-Value | Type |
CUB
|
15 |
136 |
1.08e-29 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160505
|
SMART Domains |
Protein: ENSMUSP00000125531 Gene: ENSMUSG00000038521
Domain | Start | End | E-Value | Type |
CUB
|
15 |
136 |
1.08e-29 |
SMART |
EGF_CA
|
137 |
178 |
1.79e-7 |
SMART |
CUB
|
181 |
296 |
5.89e-31 |
SMART |
CCP
|
300 |
360 |
3.22e-5 |
SMART |
CCP
|
365 |
427 |
5.48e-8 |
SMART |
Tryp_SPc
|
443 |
681 |
1.88e-70 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160967
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162443
|
SMART Domains |
Protein: ENSMUSP00000125712 Gene: ENSMUSG00000038521
Domain | Start | End | E-Value | Type |
CUB
|
15 |
136 |
1.08e-29 |
SMART |
EGF_CA
|
137 |
178 |
1.79e-7 |
SMART |
CUB
|
181 |
296 |
5.89e-31 |
SMART |
CCP
|
300 |
360 |
3.22e-5 |
SMART |
CCP
|
365 |
427 |
5.48e-8 |
SMART |
Tryp_SPc
|
443 |
681 |
1.88e-70 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162844
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,105,415 (GRCm39) |
K77E |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,693,948 (GRCm39) |
I507N |
probably damaging |
Het |
Atg16l2 |
T |
C |
7: 100,945,746 (GRCm39) |
K231E |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,066,263 (GRCm39) |
T1739A |
probably benign |
Het |
Col15a1 |
G |
A |
4: 47,306,742 (GRCm39) |
M289I |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,956,774 (GRCm39) |
R350C |
probably damaging |
Het |
Dbx2 |
A |
G |
15: 95,522,840 (GRCm39) |
V289A |
probably benign |
Het |
Esam |
A |
C |
9: 37,439,527 (GRCm39) |
Q4P |
probably benign |
Het |
Galnt1 |
A |
G |
18: 24,413,085 (GRCm39) |
M462V |
probably benign |
Het |
Got1l1 |
T |
C |
8: 27,687,959 (GRCm39) |
T357A |
probably benign |
Het |
Gpr182 |
T |
A |
10: 127,586,806 (GRCm39) |
K48N |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,349,956 (GRCm39) |
|
probably benign |
Het |
Ifi209 |
G |
A |
1: 173,470,122 (GRCm39) |
V237M |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,941,198 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,091,279 (GRCm39) |
M2520T |
probably benign |
Het |
Krt222 |
A |
G |
11: 99,129,591 (GRCm39) |
|
probably benign |
Het |
Nkx2-9 |
A |
G |
12: 56,659,007 (GRCm39) |
L69P |
probably benign |
Het |
Papss1 |
A |
G |
3: 131,305,627 (GRCm39) |
D203G |
probably benign |
Het |
Pex13 |
A |
G |
11: 23,605,789 (GRCm39) |
M147T |
probably damaging |
Het |
Pkd1l1 |
A |
T |
11: 8,776,819 (GRCm39) |
|
probably null |
Het |
Rac2 |
A |
G |
15: 78,449,675 (GRCm39) |
V85A |
possibly damaging |
Het |
Rock2 |
A |
G |
12: 17,027,616 (GRCm39) |
N127S |
probably benign |
Het |
Sfswap |
C |
T |
5: 129,646,802 (GRCm39) |
R875C |
possibly damaging |
Het |
Slco5a1 |
C |
T |
1: 12,991,376 (GRCm39) |
V438M |
probably damaging |
Het |
Thsd4 |
A |
G |
9: 59,879,798 (GRCm39) |
Y620H |
probably benign |
Het |
Trip4 |
T |
C |
9: 65,773,844 (GRCm39) |
D246G |
probably benign |
Het |
Usp10 |
T |
C |
8: 120,683,448 (GRCm39) |
*88R |
probably null |
Het |
Vars1 |
A |
G |
17: 35,234,728 (GRCm39) |
I1186V |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,864,808 (GRCm39) |
D3039G |
possibly damaging |
Het |
Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
Xpo6 |
A |
T |
7: 125,712,875 (GRCm39) |
V701E |
probably benign |
Het |
|
Other mutations in C1s1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02225:C1s1
|
APN |
6 |
124,518,293 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02590:C1s1
|
APN |
6 |
124,508,235 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02968:C1s1
|
APN |
6 |
124,517,310 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03301:C1s1
|
APN |
6 |
124,518,283 (GRCm39) |
splice site |
probably benign |
|
BB008:C1s1
|
UTSW |
6 |
124,510,359 (GRCm39) |
missense |
probably damaging |
1.00 |
BB018:C1s1
|
UTSW |
6 |
124,510,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R0105:C1s1
|
UTSW |
6 |
124,518,277 (GRCm39) |
splice site |
probably benign |
|
R0396:C1s1
|
UTSW |
6 |
124,510,313 (GRCm39) |
missense |
probably benign |
0.03 |
R0759:C1s1
|
UTSW |
6 |
124,508,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R1145:C1s1
|
UTSW |
6 |
124,517,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R1145:C1s1
|
UTSW |
6 |
124,517,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:C1s1
|
UTSW |
6 |
124,508,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:C1s1
|
UTSW |
6 |
124,508,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:C1s1
|
UTSW |
6 |
124,508,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1627:C1s1
|
UTSW |
6 |
124,514,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R1855:C1s1
|
UTSW |
6 |
124,511,315 (GRCm39) |
critical splice donor site |
probably null |
|
R2010:C1s1
|
UTSW |
6 |
124,514,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R4544:C1s1
|
UTSW |
6 |
124,508,499 (GRCm39) |
missense |
probably benign |
0.31 |
R4661:C1s1
|
UTSW |
6 |
124,513,449 (GRCm39) |
missense |
probably benign |
0.22 |
R5383:C1s1
|
UTSW |
6 |
124,511,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R5687:C1s1
|
UTSW |
6 |
124,517,909 (GRCm39) |
missense |
probably benign |
0.01 |
R5846:C1s1
|
UTSW |
6 |
124,517,912 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6289:C1s1
|
UTSW |
6 |
124,508,135 (GRCm39) |
missense |
probably damaging |
0.99 |
R6410:C1s1
|
UTSW |
6 |
124,508,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R6983:C1s1
|
UTSW |
6 |
124,517,855 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7931:C1s1
|
UTSW |
6 |
124,510,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R8141:C1s1
|
UTSW |
6 |
124,508,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:C1s1
|
UTSW |
6 |
124,508,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R8399:C1s1
|
UTSW |
6 |
124,512,252 (GRCm39) |
missense |
probably benign |
0.00 |
R8926:C1s1
|
UTSW |
6 |
124,513,322 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8926:C1s1
|
UTSW |
6 |
124,510,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R9008:C1s1
|
UTSW |
6 |
124,509,499 (GRCm39) |
critical splice donor site |
probably null |
|
R9147:C1s1
|
UTSW |
6 |
124,517,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:C1s1
|
UTSW |
6 |
124,517,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9153:C1s1
|
UTSW |
6 |
124,517,906 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9177:C1s1
|
UTSW |
6 |
124,508,362 (GRCm39) |
missense |
probably damaging |
0.98 |
RF029:C1s1
|
UTSW |
6 |
124,518,310 (GRCm39) |
start codon destroyed |
probably null |
|
|
Predicted Primers |
|
Posted On |
2015-02-05 |