Incidental Mutation 'R0759:C1s1'
| ID |
70003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1s1
|
| Ensembl Gene |
ENSMUSG00000038521 |
| Gene Name |
complement component 1, s subcomponent 1 |
| Synonyms |
C1s |
| MMRRC Submission |
038939-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R0759 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124507304-124519318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124508396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 531
(N531S)
|
| 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 |
probably damaging
Transcript: ENSMUST00000160505
AA Change: N531S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125531
Gene: ENSMUSG00000038521
AA Change: N531S
| 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 damaging
Transcript: ENSMUST00000162443
AA Change: N531S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125712
Gene: ENSMUSG00000038521
AA Change: N531S
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,384,454 (GRCm39) |
F504I |
possibly damaging |
Het |
| Amdhd2 |
C |
A |
17: 24,380,587 (GRCm39) |
C119F |
probably benign |
Het |
| Arhgef18 |
T |
G |
8: 3,438,822 (GRCm39) |
|
probably benign |
Het |
| Bsph2 |
A |
T |
7: 13,290,652 (GRCm39) |
Y76N |
probably damaging |
Het |
| Ces1c |
G |
A |
8: 93,857,492 (GRCm39) |
Q30* |
probably null |
Het |
| Cltc |
A |
C |
11: 86,627,908 (GRCm39) |
I80S |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,954 (GRCm39) |
C24Y |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,707,066 (GRCm39) |
I348V |
probably damaging |
Het |
| Elavl1 |
C |
A |
8: 4,339,815 (GRCm39) |
D256Y |
probably damaging |
Het |
| Fubp1 |
TGGCGGCGGCGGCGGCGG |
TGGCGGCGGCGGCGGCGGCGG |
3: 151,916,274 (GRCm39) |
|
probably benign |
Het |
| Gm43434 |
T |
G |
14: 54,382,952 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
A |
2: 129,146,607 (GRCm39) |
D162V |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,745,162 (GRCm39) |
Y1227H |
possibly damaging |
Het |
| Myb |
C |
T |
10: 21,020,927 (GRCm39) |
V501I |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,382,998 (GRCm39) |
I1238T |
possibly damaging |
Het |
| Nr0b2 |
A |
T |
4: 133,281,049 (GRCm39) |
Q105L |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pdilt |
A |
T |
7: 119,088,707 (GRCm39) |
Y431* |
probably null |
Het |
| Plg |
A |
G |
17: 12,629,838 (GRCm39) |
H624R |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,907,641 (GRCm39) |
S885P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,135,868 (GRCm39) |
L375P |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,106,768 (GRCm39) |
D347G |
probably benign |
Het |
| Sbf1 |
A |
T |
15: 89,188,919 (GRCm39) |
V573E |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,143,714 (GRCm39) |
I400N |
probably damaging |
Het |
| Slurp1 |
A |
G |
15: 74,598,808 (GRCm39) |
F61S |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,860 (GRCm39) |
E231G |
probably benign |
Het |
| Sned1 |
C |
T |
1: 93,200,286 (GRCm39) |
T564M |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Trim35 |
T |
A |
14: 66,546,236 (GRCm39) |
D334E |
probably benign |
Het |
| Trp53i11 |
A |
G |
2: 93,029,303 (GRCm39) |
T101A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,299,097 (GRCm39) |
N2514D |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,475,124 (GRCm39) |
Y634N |
probably damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,385 (GRCm39) |
*312Q |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCCAGCACAGATCATGTTGTC -3'
(R):5'- GGCTGCTCACGTTTTGGAGAAAATC -3'
Sequencing Primer
(F):5'- TGTCAGTGAAAACATAGTCCTCAGG -3'
(R):5'- GGAGAAAATCTCCGACCCTTTAATG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation