Incidental Mutation 'R5708:C1s2'
| ID |
452075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1s2
|
| Ensembl Gene |
ENSMUSG00000079343 |
| Gene Name |
complement component 1, s subcomponent 2 |
| Synonyms |
Gm5077 |
| MMRRC Submission |
043333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R5708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124601584-124613044 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 124602702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 503
(L503*)
|
| 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: L497*
|
| SMART Domains |
Protein: ENSMUSP00000066999
Gene: ENSMUSG00000079343
AA Change: L497*
| 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: L503*
|
| SMART Domains |
Protein: ENSMUSP00000145029
Gene: ENSMUSG00000107554
AA Change: L503*
| 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: L503*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
A |
G |
8: 84,729,627 (GRCm39) |
K101R |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,444,106 (GRCm39) |
S18P |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,285,032 (GRCm39) |
A595S |
possibly damaging |
Het |
| Asxl2 |
T |
A |
12: 3,550,603 (GRCm39) |
S782T |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,044,883 (GRCm39) |
V385A |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,912,635 (GRCm39) |
F630L |
probably damaging |
Het |
| Cdk14 |
A |
C |
5: 5,316,036 (GRCm39) |
|
probably benign |
Het |
| Cdkl4 |
T |
C |
17: 80,846,951 (GRCm39) |
I239M |
possibly damaging |
Het |
| Cfap299 |
A |
T |
5: 98,885,566 (GRCm39) |
M158L |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,890,743 (GRCm39) |
N360S |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,312 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,422,016 (GRCm39) |
P135S |
probably damaging |
Het |
| Dpysl2 |
A |
G |
14: 67,050,595 (GRCm39) |
S421P |
probably benign |
Het |
| Edn1 |
A |
T |
13: 42,457,143 (GRCm39) |
M59L |
probably benign |
Het |
| EU599041 |
A |
G |
7: 42,875,311 (GRCm39) |
|
noncoding transcript |
Het |
| Furin |
A |
G |
7: 80,047,603 (GRCm39) |
|
probably benign |
Het |
| Gkn2 |
T |
C |
6: 87,354,418 (GRCm39) |
L94P |
probably damaging |
Het |
| Gmeb2 |
A |
T |
2: 180,906,782 (GRCm39) |
C117S |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,723,843 (GRCm39) |
I1869F |
probably benign |
Het |
| Heg1 |
A |
G |
16: 33,562,774 (GRCm39) |
E1119G |
probably damaging |
Het |
| Hmgcs2 |
T |
A |
3: 98,198,478 (GRCm39) |
L127Q |
probably damaging |
Het |
| Insyn2a |
C |
A |
7: 134,520,525 (GRCm39) |
V2F |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,911,082 (GRCm39) |
R493G |
probably benign |
Het |
| Kcnj11 |
C |
T |
7: 45,749,242 (GRCm39) |
R27H |
probably benign |
Het |
| Klra14-ps |
A |
G |
6: 130,134,751 (GRCm39) |
|
noncoding transcript |
Het |
| Lgmn |
A |
T |
12: 102,370,587 (GRCm39) |
N114K |
possibly damaging |
Het |
| Lipg |
C |
T |
18: 75,088,505 (GRCm39) |
M148I |
possibly damaging |
Het |
| Megf8 |
G |
T |
7: 25,034,022 (GRCm39) |
R607L |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,747,665 (GRCm39) |
T183A |
probably benign |
Het |
| Mllt11 |
A |
G |
3: 95,127,515 (GRCm39) |
V85A |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,692,581 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,575,515 (GRCm39) |
|
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,104 (GRCm39) |
Y158C |
probably damaging |
Het |
| Or11g25 |
A |
T |
14: 50,723,452 (GRCm39) |
D179V |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,391 (GRCm39) |
I135V |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,881,380 (GRCm39) |
S902R |
probably damaging |
Het |
| Rarb |
T |
C |
14: 16,548,545 (GRCm38) |
T93A |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,123,696 (GRCm39) |
D493G |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,511,583 (GRCm39) |
D606V |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,377,891 (GRCm39) |
F569L |
possibly damaging |
Het |
| Sil1 |
T |
C |
18: 35,474,170 (GRCm39) |
E149G |
probably benign |
Het |
| Spata13 |
T |
G |
14: 60,929,452 (GRCm39) |
S337A |
probably damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,622,018 (GRCm39) |
L360M |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,250,222 (GRCm39) |
C1852S |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,360 (GRCm39) |
T208A |
probably damaging |
Het |
| Tmem38b |
G |
C |
4: 53,849,051 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
A |
1: 105,741,545 (GRCm39) |
|
probably null |
Het |
| Tnik |
T |
A |
3: 28,666,120 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
A |
T |
2: 28,555,197 (GRCm39) |
|
probably benign |
Het |
| Zfp930 |
T |
C |
8: 69,679,113 (GRCm39) |
V41A |
probably benign |
Het |
| Zscan18 |
A |
T |
7: 12,508,383 (GRCm39) |
D372E |
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 |
|
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'- TGAGATCAGCCCCATGTCAC -3'
(R):5'- TCAAGTGCAGCAGAAGATATTCGG -3'
Sequencing Primer
(F):5'- ACCCGGTGAGAGGTTGTACTC -3'
(R):5'- CAGAAGATATTCGGAGGACAACC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation