Incidental Mutation 'R5690:C1s2'
ID |
443623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1s2
|
Ensembl Gene |
ENSMUSG00000079343 |
Gene Name |
complement component 1, s subcomponent 2 |
Synonyms |
Gm5077 |
MMRRC Submission |
043323-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
R5690 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124601584-124613044 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124607996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 233
(N233S)
|
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: N233S
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000066999 Gene: ENSMUSG00000079343 AA Change: N233S
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: N239S
|
SMART Domains |
Protein: ENSMUSP00000145029 Gene: ENSMUSG00000107554 AA Change: N239S
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: N239S
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
A |
G |
10: 70,759,144 (GRCm39) |
|
probably benign |
Het |
Acadl |
T |
C |
1: 66,892,445 (GRCm39) |
Y126C |
probably damaging |
Het |
Ak6 |
A |
G |
13: 100,792,129 (GRCm39) |
|
probably null |
Het |
Ap1s1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
5: 137,066,233 (GRCm39) |
|
probably benign |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Atp6v1e1 |
A |
T |
6: 120,785,317 (GRCm39) |
|
probably null |
Het |
Axin1 |
A |
G |
17: 26,413,911 (GRCm39) |
Y792C |
probably damaging |
Het |
Ccer2 |
C |
A |
7: 28,455,629 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,218,269 (GRCm39) |
S1481P |
probably benign |
Het |
Cspg4 |
A |
T |
9: 56,806,019 (GRCm39) |
T2277S |
probably benign |
Het |
Ctsl |
T |
A |
13: 64,513,022 (GRCm39) |
N300I |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,382,370 (GRCm39) |
I1247V |
probably benign |
Het |
Dsg3 |
A |
T |
18: 20,655,108 (GRCm39) |
Q135L |
probably benign |
Het |
Efcab14 |
G |
A |
4: 115,617,244 (GRCm39) |
V318M |
possibly damaging |
Het |
Etl4 |
G |
A |
2: 20,810,647 (GRCm39) |
S910N |
probably benign |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Frmd4b |
T |
C |
6: 97,330,164 (GRCm39) |
E133G |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,807,453 (GRCm39) |
F2514S |
probably benign |
Het |
Il18rap |
A |
G |
1: 40,576,272 (GRCm39) |
D261G |
possibly damaging |
Het |
Klk1b16 |
A |
G |
7: 43,790,318 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
C |
2: 40,640,906 (GRCm39) |
|
probably null |
Het |
Mrpl45 |
C |
A |
11: 97,212,412 (GRCm39) |
|
probably benign |
Het |
Myh13 |
A |
G |
11: 67,220,101 (GRCm39) |
E150G |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,386,285 (GRCm39) |
V737D |
probably damaging |
Het |
Ncr1 |
T |
C |
7: 4,341,296 (GRCm39) |
Y59H |
probably damaging |
Het |
Nt5c1a |
T |
A |
4: 123,109,732 (GRCm39) |
V277E |
probably damaging |
Het |
Ogfod1 |
T |
A |
8: 94,784,769 (GRCm39) |
S343T |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pnpla1 |
A |
T |
17: 29,097,346 (GRCm39) |
I171F |
probably damaging |
Het |
Rab5if |
G |
A |
2: 156,707,234 (GRCm39) |
V58I |
probably benign |
Het |
Rdh8 |
A |
G |
9: 20,736,785 (GRCm39) |
N259S |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,229,735 (GRCm39) |
L927S |
possibly damaging |
Het |
Slc22a12 |
A |
G |
19: 6,586,878 (GRCm39) |
M496T |
probably benign |
Het |
Slc8b1 |
G |
A |
5: 120,651,270 (GRCm39) |
W10* |
probably null |
Het |
Smarcc2 |
G |
A |
10: 128,320,276 (GRCm39) |
G887S |
probably damaging |
Het |
Smc1b |
A |
G |
15: 84,996,974 (GRCm39) |
S549P |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,085,802 (GRCm39) |
M1181V |
probably benign |
Het |
Tbx15 |
T |
C |
3: 99,216,166 (GRCm39) |
S76P |
probably damaging |
Het |
Tbx2 |
A |
T |
11: 85,727,879 (GRCm39) |
I271F |
probably damaging |
Het |
Thap4 |
A |
G |
1: 93,644,352 (GRCm39) |
|
probably null |
Het |
Tmc2 |
A |
G |
2: 130,074,306 (GRCm39) |
Y333C |
probably damaging |
Het |
Trcg1 |
C |
T |
9: 57,149,094 (GRCm39) |
P222L |
probably benign |
Het |
Tubb3 |
T |
C |
8: 124,148,045 (GRCm39) |
V326A |
probably benign |
Het |
Unc80 |
A |
C |
1: 66,679,731 (GRCm39) |
I2101L |
probably benign |
Het |
Vmn1r19 |
T |
C |
6: 57,381,780 (GRCm39) |
L111S |
probably benign |
Het |
Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
Xpo4 |
T |
C |
14: 57,828,446 (GRCm39) |
I805V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACATAGCAAAGCCCTGGC -3'
(R):5'- AACTGTAGTGGAGATGTGTTCAC -3'
Sequencing Primer
(F):5'- CCCTGGCTTAAGGAAGGAGC -3'
(R):5'- GGAGATGTGTTCACTGCCC -3'
|
Posted On |
2016-11-09 |