Incidental Mutation 'IGL03301:C1s1'
| ID |
416236 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
C1s1
|
| Ensembl Gene |
ENSMUSG00000038521 |
| Gene Name |
complement component 1, s subcomponent 1 |
| Synonyms |
C1s |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL03301
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124507304-124519318 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 124518283 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,855,263 (GRCm39) |
E418G |
probably damaging |
Het |
| Arl14 |
T |
C |
3: 69,130,276 (GRCm39) |
F141S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,187,499 (GRCm39) |
V1198A |
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 19,055,039 (GRCm39) |
I129K |
probably benign |
Het |
| Ctdp1 |
G |
A |
18: 80,492,849 (GRCm39) |
Q549* |
probably null |
Het |
| Cyp2ab1 |
T |
A |
16: 20,132,549 (GRCm39) |
I250F |
possibly damaging |
Het |
| Dmd |
G |
A |
X: 82,952,120 (GRCm39) |
R1765Q |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,014,649 (GRCm39) |
G1739R |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,714,083 (GRCm39) |
K1350E |
probably benign |
Het |
| Ephx4 |
C |
A |
5: 107,574,730 (GRCm39) |
T256K |
probably benign |
Het |
| Fnd3c2 |
G |
T |
X: 105,295,869 (GRCm39) |
Q49K |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,086 (GRCm39) |
G1889W |
probably damaging |
Het |
| Igkv19-93 |
A |
T |
6: 68,713,465 (GRCm39) |
W55R |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,032,370 (GRCm39) |
Y412C |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,155,382 (GRCm39) |
N261I |
probably damaging |
Het |
| Mrgpra1 |
T |
C |
7: 46,985,164 (GRCm39) |
N172D |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,824,503 (GRCm39) |
N293S |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,160,775 (GRCm39) |
S2294P |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,574,052 (GRCm39) |
V262D |
probably damaging |
Het |
| Rhox7a |
A |
G |
X: 36,928,888 (GRCm39) |
T235A |
probably benign |
Het |
| Saal1 |
A |
G |
7: 46,351,944 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Slc22a2 |
A |
G |
17: 12,824,926 (GRCm39) |
R263G |
probably damaging |
Het |
| Speer3 |
T |
A |
5: 13,845,447 (GRCm39) |
L160H |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,557 (GRCm39) |
M377V |
possibly damaging |
Het |
| Tsen2 |
T |
G |
6: 115,545,732 (GRCm39) |
Y341D |
probably damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,305,955 (GRCm39) |
V541D |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,445,221 (GRCm39) |
|
probably null |
Het |
| Zfp711 |
T |
C |
X: 111,543,098 (GRCm39) |
Y710H |
probably damaging |
Het |
| Zmiz2 |
C |
T |
11: 6,351,170 (GRCm39) |
T566M |
probably damaging |
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 |
|
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 |
|
R2349:C1s1
|
UTSW |
6 |
124,518,432 (GRCm39) |
start gained |
probably benign |
|
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation