Incidental Mutation 'IGL02342:C1s2'
ID |
289119 |
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: 0.145)
|
Stock # |
IGL02342
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
124601584-124613044 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124609075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 155
(F155L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068797]
[ENSMUST00000218020]
|
AlphaFold |
Q8CFG8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068797
AA Change: F155L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066999 Gene: ENSMUSG00000079343 AA Change: F155L
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: F161L
|
SMART Domains |
Protein: ENSMUSP00000145029 Gene: ENSMUSG00000107554 AA Change: F161L
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 damaging
Transcript: ENSMUST00000218020
AA Change: F161L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
C |
A |
10: 43,050,997 (GRCm39) |
P97Q |
probably damaging |
Het |
Abcb10 |
A |
T |
8: 124,688,773 (GRCm39) |
V501E |
probably damaging |
Het |
Acsf3 |
T |
C |
8: 123,544,237 (GRCm39) |
Y572H |
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
Alox8 |
A |
G |
11: 69,077,053 (GRCm39) |
L480P |
probably damaging |
Het |
Arhgap35 |
G |
A |
7: 16,296,305 (GRCm39) |
T920I |
probably benign |
Het |
Brca2 |
C |
A |
5: 150,466,289 (GRCm39) |
L2018M |
possibly damaging |
Het |
Brdt |
C |
A |
5: 107,490,069 (GRCm39) |
H45N |
probably damaging |
Het |
Ccser2 |
A |
G |
14: 36,640,562 (GRCm39) |
|
probably benign |
Het |
Cd8a |
T |
A |
6: 71,350,723 (GRCm39) |
C63S |
probably damaging |
Het |
Clk2 |
A |
T |
3: 89,082,998 (GRCm39) |
T424S |
probably benign |
Het |
Cntn1 |
A |
G |
15: 92,143,898 (GRCm39) |
E287G |
probably benign |
Het |
Cobl |
A |
C |
11: 12,203,672 (GRCm39) |
V928G |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,557,178 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
A |
T |
2: 145,766,633 (GRCm39) |
|
probably null |
Het |
Defb26 |
T |
C |
2: 152,350,121 (GRCm39) |
N53S |
possibly damaging |
Het |
Duox1 |
A |
T |
2: 122,177,793 (GRCm39) |
T1526S |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,142,246 (GRCm39) |
L1233P |
probably damaging |
Het |
Eif5a2 |
A |
G |
3: 28,847,910 (GRCm39) |
E116G |
possibly damaging |
Het |
Garin1b |
A |
G |
6: 29,323,829 (GRCm39) |
T185A |
possibly damaging |
Het |
Gdap2 |
G |
A |
3: 100,085,632 (GRCm39) |
A185T |
probably damaging |
Het |
Grm8 |
T |
C |
6: 27,363,803 (GRCm39) |
R571G |
probably benign |
Het |
Hjv |
G |
A |
3: 96,435,488 (GRCm39) |
D249N |
possibly damaging |
Het |
Hsp90b1 |
T |
C |
10: 86,531,603 (GRCm39) |
|
probably null |
Het |
Ift70a1 |
G |
T |
2: 75,810,976 (GRCm39) |
T369K |
probably benign |
Het |
Ighv1-75 |
T |
G |
12: 115,797,878 (GRCm39) |
|
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,650,216 (GRCm39) |
|
probably benign |
Het |
Itprid2 |
A |
G |
2: 79,490,629 (GRCm39) |
N943S |
probably benign |
Het |
Kdm4d |
A |
G |
9: 14,374,860 (GRCm39) |
W333R |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,624,533 (GRCm39) |
N1426I |
probably damaging |
Het |
Lmbrd1 |
A |
G |
1: 24,743,959 (GRCm39) |
Y119C |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 77,172,976 (GRCm39) |
Y884C |
probably damaging |
Het |
Naip6 |
G |
T |
13: 100,439,748 (GRCm39) |
P340T |
possibly damaging |
Het |
Nfkbib |
G |
T |
7: 28,461,528 (GRCm39) |
H70N |
probably damaging |
Het |
Nol4 |
A |
T |
18: 22,903,926 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
T |
11: 58,891,914 (GRCm39) |
A6873T |
probably benign |
Het |
Or2ag1 |
A |
G |
7: 106,313,232 (GRCm39) |
S219P |
probably benign |
Het |
Or51b4 |
T |
A |
7: 103,530,587 (GRCm39) |
I288F |
probably benign |
Het |
Or6x1 |
T |
A |
9: 40,098,823 (GRCm39) |
N137K |
probably benign |
Het |
Paqr6 |
A |
G |
3: 88,273,491 (GRCm39) |
Y136C |
probably damaging |
Het |
Pcdh18 |
T |
A |
3: 49,710,493 (GRCm39) |
D274V |
probably damaging |
Het |
Phip |
A |
G |
9: 82,768,745 (GRCm39) |
Y1196H |
probably damaging |
Het |
Prc1 |
T |
C |
7: 79,959,190 (GRCm39) |
L345S |
probably damaging |
Het |
Smpdl3a |
A |
G |
10: 57,685,276 (GRCm39) |
|
probably benign |
Het |
Tac1 |
G |
T |
6: 7,559,119 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
A |
14: 27,198,624 (GRCm39) |
S1319T |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,636,140 (GRCm39) |
T576A |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,896,578 (GRCm39) |
D770E |
probably damaging |
Het |
Tmem117 |
T |
C |
15: 94,909,331 (GRCm39) |
V248A |
possibly damaging |
Het |
Trpm8 |
T |
C |
1: 88,255,972 (GRCm39) |
I209T |
possibly damaging |
Het |
Wrap53 |
A |
G |
11: 69,454,417 (GRCm39) |
F244L |
probably damaging |
Het |
Wrap73 |
A |
T |
4: 154,233,237 (GRCm39) |
Q137L |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,467,434 (GRCm39) |
T2531S |
probably benign |
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 |
IGL02112:C1s2
|
APN |
6 |
124,602,267 (GRCm39) |
missense |
probably benign |
0.28 |
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 |