Incidental Mutation 'IGL02590:C1s1'
| ID |
299687 |
| 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: 0.091)
|
| Stock # |
IGL02590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124507304-124519318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124508235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 585
(V585I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160505]
[ENSMUST00000162443]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159143
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160505
AA Change: V585I
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125531
Gene: ENSMUSG00000038521
AA Change: V585I
| 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 |
possibly damaging
Transcript: ENSMUST00000162443
AA Change: V585I
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125712
Gene: ENSMUSG00000038521
AA Change: V585I
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,184,404 (GRCm39) |
F118S |
probably damaging |
Het |
| Adam5 |
T |
G |
8: 25,234,151 (GRCm39) |
|
probably benign |
Het |
| Bok |
T |
C |
1: 93,614,397 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
C |
T |
7: 73,102,948 (GRCm39) |
V1346I |
probably benign |
Het |
| Cyb5a |
A |
T |
18: 84,889,732 (GRCm39) |
T54S |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,162,937 (GRCm39) |
T428S |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,037,608 (GRCm39) |
Y262H |
probably damaging |
Het |
| Fyb2 |
A |
T |
4: 104,836,250 (GRCm39) |
I404F |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,037,222 (GRCm39) |
N237S |
probably benign |
Het |
| Gypc |
A |
G |
18: 32,663,060 (GRCm39) |
*96R |
probably null |
Het |
| Il15 |
T |
C |
8: 83,069,912 (GRCm39) |
I51V |
probably benign |
Het |
| Itgb2 |
T |
C |
10: 77,395,347 (GRCm39) |
C483R |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,096,983 (GRCm39) |
D1272N |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,423,742 (GRCm39) |
T969K |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 146,993,810 (GRCm39) |
S261P |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,388,660 (GRCm39) |
G3263V |
probably damaging |
Het |
| Mid1 |
A |
G |
X: 168,710,019 (GRCm39) |
E5G |
probably damaging |
Het |
| Mmrn2 |
T |
A |
14: 34,121,224 (GRCm39) |
L698* |
probably null |
Het |
| Myh14 |
T |
G |
7: 44,273,503 (GRCm39) |
Q1393P |
probably damaging |
Het |
| Ncoa7 |
C |
T |
10: 30,570,159 (GRCm39) |
E267K |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,491,517 (GRCm39) |
I19T |
possibly damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,305 (GRCm39) |
|
probably null |
Het |
| Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,041,752 (GRCm39) |
Y2128C |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,136,784 (GRCm39) |
D293G |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,072,129 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
A |
T |
5: 36,362,397 (GRCm39) |
T330S |
probably benign |
Het |
| Rap1gap |
A |
G |
4: 137,447,611 (GRCm39) |
T453A |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,544,881 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,840,020 (GRCm39) |
E1590G |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,957,857 (GRCm39) |
V596I |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,182 (GRCm39) |
I356T |
probably benign |
Het |
| Trav8d-2 |
T |
C |
14: 53,279,906 (GRCm39) |
S8P |
possibly damaging |
Het |
| Tyms |
C |
A |
5: 30,269,149 (GRCm39) |
V75L |
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,172 (GRCm39) |
S120R |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,227,356 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
C |
T |
17: 15,138,041 (GRCm39) |
A388T |
possibly 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation