Incidental Mutation 'R6289:C1s1'
ID |
508299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1s1
|
Ensembl Gene |
ENSMUSG00000038521 |
Gene Name |
complement component 1, s subcomponent 1 |
Synonyms |
C1s |
MMRRC Submission |
044459-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R6289 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124507304-124519318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124508135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 618
(F618S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160505]
[ENSMUST00000162443]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160505
AA Change: F618S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125531 Gene: ENSMUSG00000038521 AA Change: F618S
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: F618S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125712 Gene: ENSMUSG00000038521 AA Change: F618S
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 |
0.5569 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
A |
G |
12: 81,607,480 (GRCm39) |
V94A |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,578,837 (GRCm39) |
S34P |
probably damaging |
Het |
Arid3c |
G |
A |
4: 41,724,285 (GRCm39) |
|
probably benign |
Het |
Atg16l1 |
C |
T |
1: 87,683,937 (GRCm39) |
R6C |
probably damaging |
Het |
Bex6 |
A |
G |
16: 32,005,530 (GRCm39) |
I113V |
probably benign |
Het |
Blk |
T |
C |
14: 63,613,341 (GRCm39) |
|
probably null |
Het |
Casp8ap2 |
C |
T |
4: 32,639,590 (GRCm39) |
H215Y |
probably damaging |
Het |
Casp9 |
T |
A |
4: 141,534,496 (GRCm39) |
V302E |
probably damaging |
Het |
Ccl2 |
A |
C |
11: 81,927,795 (GRCm39) |
K80Q |
probably benign |
Het |
Cit |
T |
G |
5: 116,144,385 (GRCm39) |
*2014E |
probably null |
Het |
Dclk2 |
A |
T |
3: 86,739,124 (GRCm39) |
S292T |
probably benign |
Het |
Ddx23 |
T |
C |
15: 98,547,765 (GRCm39) |
E463G |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fgf10 |
C |
A |
13: 118,852,028 (GRCm39) |
Q37K |
probably benign |
Het |
Fgf22 |
A |
G |
10: 79,591,041 (GRCm39) |
D24G |
probably damaging |
Het |
Gabra1 |
A |
G |
11: 42,045,846 (GRCm39) |
I88T |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
H1f5 |
G |
T |
13: 21,964,609 (GRCm39) |
P39Q |
probably damaging |
Het |
Hpse2 |
T |
A |
19: 42,777,418 (GRCm39) |
N583Y |
probably null |
Het |
Katnal2 |
A |
G |
18: 77,105,151 (GRCm39) |
|
probably null |
Het |
Keg1 |
T |
G |
19: 12,691,937 (GRCm39) |
C85G |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,106,615 (GRCm39) |
L1356H |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,196,391 (GRCm39) |
K192E |
probably benign |
Het |
Mks1 |
T |
C |
11: 87,750,485 (GRCm39) |
|
probably null |
Het |
Or5b110-ps1 |
T |
C |
19: 13,260,158 (GRCm39) |
K88R |
possibly damaging |
Het |
Rars1 |
C |
T |
11: 35,716,894 (GRCm39) |
M207I |
probably damaging |
Het |
Rbm6 |
T |
C |
9: 107,655,147 (GRCm39) |
Y896C |
probably damaging |
Het |
Scarf1 |
T |
A |
11: 75,416,242 (GRCm39) |
W472R |
possibly damaging |
Het |
Septin8 |
A |
G |
11: 53,425,305 (GRCm39) |
N66S |
probably damaging |
Het |
Smcr8 |
T |
C |
11: 60,669,424 (GRCm39) |
F191L |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,935,411 (GRCm39) |
M1879T |
probably benign |
Het |
Tlr3 |
C |
T |
8: 45,849,966 (GRCm39) |
R901Q |
probably benign |
Het |
Trpc4ap |
T |
C |
2: 155,505,627 (GRCm39) |
T203A |
possibly damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,445,671 (GRCm39) |
S58G |
probably benign |
Het |
Ubtd2 |
A |
G |
11: 32,466,177 (GRCm39) |
E132G |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,279,014 (GRCm39) |
E831V |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,201,325 (GRCm39) |
N418S |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Wdhd1 |
A |
C |
14: 47,495,953 (GRCm39) |
I637S |
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 |
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 |
|
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 |
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'- TACCTTTGTGTAGACCCCATAAG -3'
(R):5'- TGCAGCTGAAAGACCCTGTG -3'
Sequencing Primer
(F):5'- TTGTGTAGACCCCATAAGTCCCAC -3'
(R):5'- GACCCTGTGAAAATGGGACCC -3'
|
Posted On |
2018-03-15 |