Incidental Mutation 'R9751:C1s2'
ID |
732511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1s2
|
Ensembl Gene |
ENSMUSG00000079343 |
Gene Name |
complement component 1, s subcomponent 2 |
Synonyms |
Gm5077 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R9751 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124601584-124613044 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 124602553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 553
(P553T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068797]
[ENSMUST00000218020]
|
AlphaFold |
Q8CFG8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068797
AA Change: P547T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066999 Gene: ENSMUSG00000079343 AA Change: P547T
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: P553T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,881,126 (GRCm39) |
N514D |
probably benign |
Het |
Adgre1 |
G |
A |
17: 57,757,101 (GRCm39) |
R786H |
probably null |
Het |
Ankrd7 |
G |
A |
6: 18,868,024 (GRCm39) |
V97I |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,065,889 (GRCm39) |
I54M |
|
Het |
Bmper |
C |
T |
9: 23,318,009 (GRCm39) |
P543S |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,795,015 (GRCm39) |
M2233K |
possibly damaging |
Het |
Cachd1 |
G |
A |
4: 100,823,438 (GRCm39) |
V497I |
possibly damaging |
Het |
Cacng4 |
A |
G |
11: 107,626,019 (GRCm39) |
S191P |
probably damaging |
Het |
Cd109 |
C |
A |
9: 78,605,442 (GRCm39) |
T1015K |
probably damaging |
Het |
Clstn2 |
A |
G |
9: 97,339,703 (GRCm39) |
L756P |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,377,887 (GRCm39) |
D1122E |
possibly damaging |
Het |
Csf2 |
A |
T |
11: 54,140,420 (GRCm39) |
L6* |
probably null |
Het |
Csnk1g2 |
T |
A |
10: 80,473,745 (GRCm39) |
Y71N |
possibly damaging |
Het |
Dlg2 |
C |
A |
7: 90,564,731 (GRCm39) |
H116N |
probably benign |
Het |
Dnah14 |
C |
T |
1: 181,619,610 (GRCm39) |
S3978L |
probably damaging |
Het |
Dpp8 |
C |
T |
9: 64,960,453 (GRCm39) |
T328I |
probably null |
Het |
Dync2i1 |
T |
A |
12: 116,205,403 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
Efcab3 |
G |
A |
11: 104,783,911 (GRCm39) |
G2754E |
probably benign |
Het |
Egf |
C |
A |
3: 129,548,538 (GRCm39) |
V26F |
probably damaging |
Het |
Eif1ad19 |
T |
C |
12: 87,740,526 (GRCm39) |
N11S |
possibly damaging |
Het |
Fam20a |
T |
A |
11: 109,565,992 (GRCm39) |
Y414F |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,818,241 (GRCm39) |
I4658T |
probably benign |
Het |
Hycc1 |
C |
T |
5: 24,196,748 (GRCm39) |
E47K |
probably benign |
Het |
Igflr1 |
A |
T |
7: 30,266,653 (GRCm39) |
Q167L |
possibly damaging |
Het |
Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
Map3k6 |
A |
G |
4: 132,979,168 (GRCm39) |
|
probably null |
Het |
Mcpt4 |
A |
G |
14: 56,297,511 (GRCm39) |
I215T |
probably damaging |
Het |
Med13 |
T |
C |
11: 86,189,984 (GRCm39) |
Y975C |
probably damaging |
Het |
Meioc |
T |
A |
11: 102,566,419 (GRCm39) |
Y678* |
probably null |
Het |
Myof |
T |
C |
19: 37,924,818 (GRCm39) |
T1190A |
probably benign |
Het |
Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
Ncapg |
T |
C |
5: 45,851,195 (GRCm39) |
V796A |
probably damaging |
Het |
Or4c10b |
C |
T |
2: 89,711,956 (GRCm39) |
T262I |
probably benign |
Het |
Or4c119 |
C |
T |
2: 88,986,782 (GRCm39) |
V246M |
possibly damaging |
Het |
Or5d39 |
T |
A |
2: 87,979,614 (GRCm39) |
I250L |
probably benign |
Het |
Or5d40 |
T |
A |
2: 88,015,260 (GRCm39) |
V13E |
possibly damaging |
Het |
Or5p68 |
T |
C |
7: 107,945,645 (GRCm39) |
Y181C |
probably benign |
Het |
Paxbp1 |
A |
G |
16: 90,824,188 (GRCm39) |
S515P |
probably benign |
Het |
Pip4p1 |
A |
G |
14: 51,165,436 (GRCm39) |
V257A |
probably benign |
Het |
Plce1 |
C |
T |
19: 38,717,414 (GRCm39) |
S1401F |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,777,964 (GRCm39) |
K1043E |
probably benign |
Het |
Rtn4rl2 |
T |
G |
2: 84,711,039 (GRCm39) |
N75T |
probably damaging |
Het |
Slc35f4 |
A |
G |
14: 49,536,291 (GRCm39) |
I448T |
possibly damaging |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Tas2r115 |
A |
G |
6: 132,714,918 (GRCm39) |
I11T |
possibly damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,181,680 (GRCm39) |
V351A |
possibly damaging |
Het |
Trim43b |
A |
T |
9: 88,971,570 (GRCm39) |
D195E |
probably benign |
Het |
Trim65 |
C |
A |
11: 116,021,564 (GRCm39) |
A90S |
probably benign |
Het |
Trip11 |
C |
T |
12: 101,850,765 (GRCm39) |
V1100I |
possibly damaging |
Het |
Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
Ube2g2 |
G |
A |
10: 77,480,307 (GRCm39) |
V138I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCACCAGCACAGATCATG -3'
(R):5'- ATCACGGCTTTGAGACTGGC -3'
Sequencing Primer
(F):5'- CCAGCACAGATCATGTTGTCAGTG -3'
(R):5'- CTGGCTGACTTGGAAAATGCC -3'
|
Posted On |
2022-11-14 |