Incidental Mutation 'R9550:C1s2'
| ID |
720432 |
| 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 # |
R9550 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124601584-124613044 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 124605253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 361
(Q361*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068797]
[ENSMUST00000218020]
|
| AlphaFold |
Q8CFG8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068797
AA Change: Q355*
|
| SMART Domains |
Protein: ENSMUSP00000066999
Gene: ENSMUSG00000079343
AA Change: Q355*
| 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 null
Transcript: ENSMUST00000218020
AA Change: Q361*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,022,120 (GRCm39) |
C457R |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,878,429 (GRCm39) |
V546E |
probably benign |
Het |
| Add3 |
G |
A |
19: 53,233,521 (GRCm39) |
E641K |
possibly damaging |
Het |
| Anks1b |
T |
A |
10: 90,412,360 (GRCm39) |
M1K |
probably null |
Het |
| Casp4 |
T |
C |
9: 5,328,465 (GRCm39) |
S316P |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,603 (GRCm39) |
V374A |
probably damaging |
Het |
| Cdyl |
A |
G |
13: 36,000,147 (GRCm39) |
T143A |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,858,598 (GRCm39) |
T760A |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,119,439 (GRCm39) |
L1035P |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,453,760 (GRCm39) |
I208V |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,340,387 (GRCm39) |
L641P |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,093,902 (GRCm39) |
M741K |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,058 (GRCm39) |
Y518C |
possibly damaging |
Het |
| Dtnb |
A |
G |
12: 3,768,437 (GRCm39) |
N343D |
possibly damaging |
Het |
| Dusp3 |
A |
T |
11: 101,872,668 (GRCm39) |
S43T |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Espn |
C |
T |
4: 152,215,534 (GRCm39) |
R575H |
probably damaging |
Het |
| Gls |
A |
T |
1: 52,251,373 (GRCm39) |
L328* |
probably null |
Het |
| H2-T23 |
T |
C |
17: 36,342,712 (GRCm39) |
D142G |
probably damaging |
Het |
| Hck |
A |
G |
2: 152,976,651 (GRCm39) |
M262V |
probably benign |
Het |
| Igkv14-126 |
G |
T |
6: 67,873,199 (GRCm39) |
L13F |
possibly damaging |
Het |
| Muc2 |
C |
T |
7: 141,308,242 (GRCm39) |
R913C |
probably damaging |
Het |
| Mypop |
A |
T |
7: 18,726,245 (GRCm39) |
T71S |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,353,615 (GRCm39) |
I536T |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,474,910 (GRCm39) |
E830G |
possibly damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,137 (GRCm39) |
I105N |
probably damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,937 (GRCm39) |
V155A |
probably benign |
Het |
| Pcdha8 |
A |
T |
18: 37,127,399 (GRCm39) |
Y627F |
possibly damaging |
Het |
| Polr1b |
T |
A |
2: 128,962,205 (GRCm39) |
S742R |
unknown |
Het |
| Ppm1e |
A |
T |
11: 87,121,919 (GRCm39) |
N679K |
probably benign |
Het |
| Raly |
AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG |
AGCAGCAGTGGTGGAGG |
2: 154,705,754 (GRCm39) |
|
probably benign |
Het |
| Rgs12 |
G |
T |
5: 35,196,665 (GRCm39) |
G1430C |
probably damaging |
Het |
| Rhcg |
T |
C |
7: 79,248,296 (GRCm39) |
Y436C |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,822,807 (GRCm39) |
D918G |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,003,620 (GRCm39) |
F1897L |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 56,996,768 (GRCm39) |
V99A |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,195,224 (GRCm39) |
L137* |
probably null |
Het |
| Sufu |
A |
G |
19: 46,385,675 (GRCm39) |
Y45C |
probably damaging |
Het |
| Thsd1 |
C |
T |
8: 22,733,026 (GRCm39) |
|
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,559,706 (GRCm39) |
L1249Q |
probably damaging |
Het |
| Toe1 |
C |
T |
4: 116,661,916 (GRCm39) |
V418M |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,761,985 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,858,077 (GRCm39) |
D1226G |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,464,572 (GRCm39) |
S1602P |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,410,482 (GRCm39) |
K565R |
probably damaging |
Het |
| Zfp319 |
T |
C |
8: 96,055,025 (GRCm39) |
T393A |
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 |
|
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'- GCGAGCTCAGAATGTACTTCC -3'
(R):5'- CTTGTCATTGATCCAAGACCAGAG -3'
Sequencing Primer
(F):5'- CGAGCTCAGAATGTACTTCCTTAGAG -3'
(R):5'- GATCCAAGACCAGAGATTCAATTTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation