Incidental Mutation 'R4544:C1s1'
ID |
333675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1s1
|
Ensembl Gene |
ENSMUSG00000038521 |
Gene Name |
complement component 1, s subcomponent 1 |
Synonyms |
C1s |
MMRRC Submission |
041779-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R4544 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124507304-124519318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124508499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 497
(S497P)
|
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 benign
Transcript: ENSMUST00000160505
AA Change: S497P
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000125531 Gene: ENSMUSG00000038521 AA Change: S497P
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
AA Change: S497P
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000125712 Gene: ENSMUSG00000038521 AA Change: S497P
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 |
|
Meta Mutation Damage Score |
0.2805 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
Ccnyl1 |
G |
T |
1: 64,762,735 (GRCm39) |
M347I |
probably benign |
Het |
Chil4 |
C |
A |
3: 106,117,922 (GRCm39) |
R116L |
probably damaging |
Het |
Cmpk2 |
A |
G |
12: 26,528,016 (GRCm39) |
E411G |
probably damaging |
Het |
Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
Csmd1 |
A |
T |
8: 16,760,652 (GRCm39) |
F161Y |
possibly damaging |
Het |
Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
Dppa3 |
A |
G |
6: 122,603,726 (GRCm39) |
|
probably benign |
Het |
Ednra |
A |
G |
8: 78,401,540 (GRCm39) |
|
probably null |
Het |
Fancd2 |
A |
G |
6: 113,549,603 (GRCm39) |
|
probably null |
Het |
Fastkd1 |
C |
T |
2: 69,542,655 (GRCm39) |
E51K |
probably damaging |
Het |
Fndc1 |
T |
A |
17: 7,992,376 (GRCm39) |
D440V |
unknown |
Het |
Gm9934 |
A |
G |
7: 92,702,188 (GRCm39) |
|
noncoding transcript |
Het |
Hdac1-ps |
A |
T |
17: 78,800,388 (GRCm39) |
T460S |
probably benign |
Het |
Ifi205 |
T |
C |
1: 173,854,139 (GRCm39) |
I171M |
possibly damaging |
Het |
Ifi213 |
T |
C |
1: 173,409,693 (GRCm39) |
|
probably null |
Het |
Insig2 |
A |
T |
1: 121,239,921 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
T |
C |
6: 39,152,406 (GRCm39) |
R97G |
probably benign |
Het |
Krt23 |
G |
A |
11: 99,369,102 (GRCm39) |
T397M |
probably benign |
Het |
Lepr |
G |
A |
4: 101,625,425 (GRCm39) |
V527I |
possibly damaging |
Het |
Lmo2 |
C |
T |
2: 103,806,382 (GRCm39) |
P25L |
probably damaging |
Het |
Lsr |
C |
T |
7: 30,671,401 (GRCm39) |
V111M |
probably damaging |
Het |
Mest |
T |
C |
6: 30,740,679 (GRCm39) |
W13R |
probably damaging |
Het |
Mfn2 |
A |
G |
4: 147,971,909 (GRCm39) |
V224A |
probably benign |
Het |
Mkx |
T |
C |
18: 7,000,651 (GRCm39) |
Y97C |
probably damaging |
Het |
Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
Myo9b |
T |
C |
8: 71,780,585 (GRCm39) |
V494A |
probably damaging |
Het |
Nek1 |
C |
T |
8: 61,469,338 (GRCm39) |
Q132* |
probably null |
Het |
Or2a12 |
C |
T |
6: 42,904,348 (GRCm39) |
S61L |
probably damaging |
Het |
Or6c5 |
A |
C |
10: 129,074,027 (GRCm39) |
N3T |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,414,836 (GRCm39) |
V409A |
possibly damaging |
Het |
Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
Pex10 |
T |
C |
4: 155,154,952 (GRCm39) |
Y235H |
probably benign |
Het |
Pik3cb |
T |
A |
9: 98,921,812 (GRCm39) |
K1050I |
probably damaging |
Het |
Prss56 |
A |
G |
1: 87,112,364 (GRCm39) |
D85G |
probably damaging |
Het |
Psg26 |
T |
C |
7: 18,212,464 (GRCm39) |
N297S |
probably damaging |
Het |
Rdh16f1 |
T |
C |
10: 127,626,706 (GRCm39) |
L253S |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
Slc8b1 |
G |
A |
5: 120,669,218 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
G |
A |
19: 40,300,294 (GRCm39) |
T575M |
probably damaging |
Het |
Syne3 |
T |
A |
12: 104,925,728 (GRCm39) |
K313M |
probably damaging |
Het |
Tas2r108 |
A |
G |
6: 40,470,742 (GRCm39) |
T73A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,652,932 (GRCm39) |
|
probably null |
Het |
Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
Ubr3 |
G |
A |
2: 69,786,437 (GRCm39) |
M850I |
probably benign |
Het |
Vmn2r78 |
A |
T |
7: 86,570,399 (GRCm39) |
M306L |
probably benign |
Het |
Vmn2r9 |
T |
G |
5: 108,995,551 (GRCm39) |
M366L |
probably benign |
Het |
Zan |
C |
G |
5: 137,382,096 (GRCm39) |
M5150I |
unknown |
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 |
R2349:C1s1
|
UTSW |
6 |
124,518,432 (GRCm39) |
start gained |
probably benign |
|
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'- TGAGATCAGCCCCATGTCAC -3'
(R):5'- TGCATCAGAGGATATTTGGAGGAC -3'
Sequencing Primer
(F):5'- ACCCGGTGAGACGTTGTACTC -3'
(R):5'- CAACCTGCAAAGATTGAAAATTTTCC -3'
|
Posted On |
2015-08-18 |