Incidental Mutation 'IGL02112:C1s2'
ID |
280191 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
C1s2
|
Ensembl Gene |
ENSMUSG00000079343 |
Gene Name |
complement component 1, s subcomponent 2 |
Synonyms |
Gm5077 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
IGL02112
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
124601584-124613044 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124602267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 642
(V642A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068797]
[ENSMUST00000218020]
|
AlphaFold |
Q8CFG8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068797
AA Change: V642A
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000066999 Gene: ENSMUSG00000079343 AA Change: V642A
Domain | Start | End | E-Value | Type |
CUB
|
15 |
136 |
1.31e-28 |
SMART |
EGF_CA
|
137 |
178 |
3.35e-7 |
SMART |
CUB
|
181 |
296 |
1.45e-30 |
SMART |
CCP
|
300 |
360 |
3.27e-6 |
SMART |
CCP
|
365 |
427 |
9.54e-8 |
SMART |
Tryp_SPc
|
443 |
681 |
8.92e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204754
AA Change: V648A
|
SMART Domains |
Protein: ENSMUSP00000145029 Gene: ENSMUSG00000107554 AA Change: V648A
Domain | Start | End | E-Value | Type |
CUB
|
15 |
136 |
1.31e-28 |
SMART |
EGF_CA
|
137 |
178 |
3.35e-7 |
SMART |
CUB
|
181 |
296 |
1.45e-30 |
SMART |
CCP
|
300 |
360 |
3.27e-6 |
SMART |
CCP
|
365 |
427 |
9.54e-8 |
SMART |
Tryp_SPc
|
443 |
681 |
8.92e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218020
AA Change: V648A
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
A |
8: 44,104,175 (GRCm39) |
Y490F |
possibly damaging |
Het |
Appbp2 |
A |
T |
11: 85,092,446 (GRCm39) |
H271Q |
probably benign |
Het |
Arhgap17 |
A |
T |
7: 122,917,640 (GRCm39) |
D181E |
possibly damaging |
Het |
Arhgap25 |
T |
A |
6: 87,444,919 (GRCm39) |
Y286F |
possibly damaging |
Het |
Atf2 |
T |
C |
2: 73,649,381 (GRCm39) |
K352R |
probably damaging |
Het |
Bdp1 |
G |
A |
13: 100,174,308 (GRCm39) |
T2076I |
probably benign |
Het |
Cldn18 |
T |
A |
9: 99,580,128 (GRCm39) |
T170S |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,620,853 (GRCm39) |
H977Q |
probably benign |
Het |
Col15a1 |
T |
A |
4: 47,253,985 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,131,719 (GRCm39) |
Y1669N |
probably benign |
Het |
Csmd3 |
A |
C |
15: 48,177,265 (GRCm39) |
S424R |
possibly damaging |
Het |
Cyp4a31 |
A |
G |
4: 115,428,180 (GRCm39) |
D306G |
probably damaging |
Het |
E2f2 |
A |
G |
4: 135,920,145 (GRCm39) |
T377A |
probably benign |
Het |
Edil3 |
A |
G |
13: 89,328,374 (GRCm39) |
D276G |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,693,638 (GRCm39) |
Y305N |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,998,844 (GRCm39) |
N181D |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,837,099 (GRCm39) |
Q494R |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,291 (GRCm39) |
I80T |
probably damaging |
Het |
Haus8 |
T |
A |
8: 71,708,205 (GRCm39) |
E163V |
probably damaging |
Het |
Hephl1 |
G |
T |
9: 14,993,111 (GRCm39) |
|
probably benign |
Het |
Hnrnph3 |
A |
G |
10: 62,852,184 (GRCm39) |
|
probably null |
Het |
Liat1 |
G |
T |
11: 75,894,214 (GRCm39) |
C197F |
probably benign |
Het |
Mast2 |
A |
T |
4: 116,176,961 (GRCm39) |
C437S |
probably damaging |
Het |
Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
Mfge8 |
A |
T |
7: 78,793,088 (GRCm39) |
V126D |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,884,629 (GRCm39) |
|
probably benign |
Het |
Or7d10 |
T |
A |
9: 19,831,821 (GRCm39) |
N105K |
possibly damaging |
Het |
Panx2 |
A |
G |
15: 88,953,772 (GRCm39) |
T576A |
probably benign |
Het |
Per3 |
T |
C |
4: 151,113,640 (GRCm39) |
Y306C |
probably benign |
Het |
Ppm1h |
G |
A |
10: 122,638,305 (GRCm39) |
G192R |
possibly damaging |
Het |
Prss22 |
T |
C |
17: 24,212,945 (GRCm39) |
E264G |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,635,042 (GRCm39) |
|
probably benign |
Het |
Rpl7a-ps8 |
C |
A |
7: 19,687,985 (GRCm39) |
|
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,324,425 (GRCm39) |
D377G |
probably benign |
Het |
Sh3bp1 |
T |
C |
15: 78,790,084 (GRCm39) |
|
probably null |
Het |
Sobp |
A |
G |
10: 42,897,873 (GRCm39) |
S571P |
probably benign |
Het |
Styxl2 |
C |
A |
1: 165,927,240 (GRCm39) |
E791* |
probably null |
Het |
Syce1 |
C |
A |
7: 140,359,545 (GRCm39) |
M114I |
probably benign |
Het |
Tdrd6 |
G |
A |
17: 43,940,242 (GRCm39) |
R269W |
probably damaging |
Het |
Tmprss13 |
T |
C |
9: 45,250,702 (GRCm39) |
S408P |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,602 (GRCm39) |
T706A |
probably benign |
Het |
Tpcn2 |
A |
G |
7: 144,810,529 (GRCm39) |
S603P |
probably benign |
Het |
Trmt12 |
A |
T |
15: 58,744,665 (GRCm39) |
Q21L |
probably damaging |
Het |
Vmn1r68 |
C |
T |
7: 10,261,787 (GRCm39) |
G104S |
probably damaging |
Het |
Vmn2r82 |
T |
C |
10: 79,231,833 (GRCm39) |
W611R |
probably benign |
Het |
Vmn2r90 |
C |
A |
17: 17,932,465 (GRCm39) |
T124K |
probably damaging |
Het |
Vmn2r99 |
A |
G |
17: 19,600,494 (GRCm39) |
E506G |
probably null |
Het |
|
Other mutations in C1s2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01503:C1s2
|
APN |
6 |
124,602,612 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02342:C1s2
|
APN |
6 |
124,609,075 (GRCm39) |
missense |
probably damaging |
0.98 |
R0616:C1s2
|
UTSW |
6 |
124,605,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R0621:C1s2
|
UTSW |
6 |
124,608,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:C1s2
|
UTSW |
6 |
124,607,126 (GRCm39) |
splice site |
probably benign |
|
R1451:C1s2
|
UTSW |
6 |
124,602,453 (GRCm39) |
missense |
probably benign |
0.06 |
R1484:C1s2
|
UTSW |
6 |
124,602,604 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1570:C1s2
|
UTSW |
6 |
124,602,723 (GRCm39) |
missense |
probably benign |
0.01 |
R1824:C1s2
|
UTSW |
6 |
124,612,641 (GRCm39) |
missense |
probably benign |
0.03 |
R2009:C1s2
|
UTSW |
6 |
124,612,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:C1s2
|
UTSW |
6 |
124,612,004 (GRCm39) |
missense |
probably damaging |
0.96 |
R2197:C1s2
|
UTSW |
6 |
124,609,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R4421:C1s2
|
UTSW |
6 |
124,602,174 (GRCm39) |
missense |
probably benign |
0.39 |
R4573:C1s2
|
UTSW |
6 |
124,605,202 (GRCm39) |
splice site |
probably null |
|
R4906:C1s2
|
UTSW |
6 |
124,612,073 (GRCm39) |
nonsense |
probably null |
|
R4923:C1s2
|
UTSW |
6 |
124,602,649 (GRCm39) |
missense |
probably benign |
0.00 |
R4977:C1s2
|
UTSW |
6 |
124,612,598 (GRCm39) |
missense |
probably damaging |
0.96 |
R5030:C1s2
|
UTSW |
6 |
124,612,547 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5690:C1s2
|
UTSW |
6 |
124,607,996 (GRCm39) |
missense |
probably benign |
0.13 |
R5708:C1s2
|
UTSW |
6 |
124,602,702 (GRCm39) |
nonsense |
probably null |
|
R5846:C1s2
|
UTSW |
6 |
124,608,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R6176:C1s2
|
UTSW |
6 |
124,602,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R6177:C1s2
|
UTSW |
6 |
124,606,960 (GRCm39) |
missense |
probably damaging |
0.96 |
R6842:C1s2
|
UTSW |
6 |
124,604,461 (GRCm39) |
missense |
probably benign |
0.12 |
R7291:C1s2
|
UTSW |
6 |
124,602,343 (GRCm39) |
missense |
probably benign |
0.16 |
R7590:C1s2
|
UTSW |
6 |
124,609,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R7721:C1s2
|
UTSW |
6 |
124,607,017 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7864:C1s2
|
UTSW |
6 |
124,602,246 (GRCm39) |
missense |
probably benign |
0.18 |
R7886:C1s2
|
UTSW |
6 |
124,605,289 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8849:C1s2
|
UTSW |
6 |
124,602,754 (GRCm39) |
missense |
probably benign |
0.31 |
R9135:C1s2
|
UTSW |
6 |
124,602,642 (GRCm39) |
missense |
probably benign |
|
R9366:C1s2
|
UTSW |
6 |
124,602,694 (GRCm39) |
missense |
probably benign |
0.05 |
R9407:C1s2
|
UTSW |
6 |
124,602,454 (GRCm39) |
missense |
probably benign |
0.00 |
R9550:C1s2
|
UTSW |
6 |
124,605,253 (GRCm39) |
nonsense |
probably null |
|
R9614:C1s2
|
UTSW |
6 |
124,602,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R9751:C1s2
|
UTSW |
6 |
124,602,553 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:C1s2
|
UTSW |
6 |
124,612,049 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:C1s2
|
UTSW |
6 |
124,602,693 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2015-04-16 |