Incidental Mutation 'R3877:C4bp'
ID |
276878 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C4bp
|
Ensembl Gene |
ENSMUSG00000026405 |
Gene Name |
complement component 4 binding protein |
Synonyms |
|
MMRRC Submission |
040904-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3877 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
130563658-130589394 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 130575764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027657]
[ENSMUST00000137276]
|
AlphaFold |
P08607 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027657
|
SMART Domains |
Protein: ENSMUSP00000027657 Gene: ENSMUSG00000026405
Domain | Start | End | E-Value | Type |
CCP
|
58 |
115 |
3.45e-5 |
SMART |
CCP
|
120 |
176 |
3.17e-13 |
SMART |
CCP
|
181 |
240 |
4.59e-10 |
SMART |
CCP
|
245 |
299 |
3.12e-12 |
SMART |
CCP
|
303 |
355 |
7.28e-13 |
SMART |
CCP
|
359 |
413 |
1.07e-10 |
SMART |
PDB:4B0F|G
|
416 |
459 |
6e-9 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137276
|
SMART Domains |
Protein: ENSMUSP00000121185 Gene: ENSMUSG00000026405
Domain | Start | End | E-Value | Type |
CCP
|
58 |
115 |
3.45e-5 |
SMART |
CCP
|
120 |
176 |
3.17e-13 |
SMART |
CCP
|
181 |
240 |
4.59e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171642
|
SMART Domains |
Protein: ENSMUSP00000130533 Gene: ENSMUSG00000026405
Domain | Start | End | E-Value | Type |
CCP
|
16 |
75 |
4.59e-10 |
SMART |
CCP
|
80 |
124 |
1.38e0 |
SMART |
CCP
|
125 |
177 |
7.28e-13 |
SMART |
|
Meta Mutation Damage Score |
0.9484 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
G |
A |
8: 41,249,671 (GRCm39) |
V594I |
possibly damaging |
Het |
Adgb |
A |
T |
10: 10,318,227 (GRCm39) |
|
probably null |
Het |
Adgrb3 |
A |
C |
1: 25,150,906 (GRCm39) |
L1109R |
probably damaging |
Het |
Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
Arhgap21 |
A |
T |
2: 20,864,717 (GRCm39) |
M1197K |
probably damaging |
Het |
Arhgef40 |
A |
G |
14: 52,239,742 (GRCm39) |
T1319A |
probably damaging |
Het |
Cd200r1 |
T |
C |
16: 44,610,374 (GRCm39) |
S161P |
possibly damaging |
Het |
Ckap5 |
A |
G |
2: 91,445,495 (GRCm39) |
K1711E |
possibly damaging |
Het |
Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,251,427 (GRCm39) |
S1900P |
probably benign |
Het |
Dnah17 |
T |
G |
11: 117,915,533 (GRCm39) |
N4334T |
probably damaging |
Het |
Dpm2 |
G |
A |
2: 32,462,412 (GRCm39) |
|
probably null |
Het |
Eef1a2 |
A |
T |
2: 180,794,626 (GRCm39) |
V191E |
probably damaging |
Het |
Gmds |
G |
A |
13: 32,411,248 (GRCm39) |
T62I |
probably damaging |
Het |
Hyal5 |
A |
T |
6: 24,876,630 (GRCm39) |
I168F |
probably damaging |
Het |
Idh3a |
T |
C |
9: 54,499,679 (GRCm39) |
V31A |
probably benign |
Het |
Inf2 |
C |
A |
12: 112,577,264 (GRCm39) |
A1036E |
unknown |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,051,564 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrp1b |
A |
G |
2: 41,335,206 (GRCm39) |
C779R |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,289,816 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
A |
2: 69,379,391 (GRCm39) |
T107M |
probably damaging |
Het |
Lrpap1 |
T |
C |
5: 35,255,547 (GRCm39) |
E184G |
probably benign |
Het |
Mapre1 |
C |
T |
2: 153,588,201 (GRCm39) |
T8M |
possibly damaging |
Het |
Mms19 |
G |
A |
19: 41,954,695 (GRCm39) |
Q75* |
probably null |
Het |
Mtcl1 |
T |
C |
17: 66,649,949 (GRCm39) |
I1390V |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,411,289 (GRCm39) |
S1412G |
unknown |
Het |
Myh4 |
A |
T |
11: 67,148,009 (GRCm39) |
Q1686L |
probably benign |
Het |
Or1e25 |
A |
T |
11: 73,493,979 (GRCm39) |
D191V |
probably damaging |
Het |
Or9s13 |
A |
T |
1: 92,547,805 (GRCm39) |
D59V |
probably damaging |
Het |
Rcvrn |
A |
T |
11: 67,590,802 (GRCm39) |
I129F |
probably damaging |
Het |
Reg3b |
T |
A |
6: 78,348,216 (GRCm39) |
M10K |
possibly damaging |
Het |
Rimbp2 |
T |
A |
5: 128,850,529 (GRCm39) |
E918V |
probably damaging |
Het |
Rpl5 |
A |
G |
5: 108,051,667 (GRCm39) |
T154A |
probably benign |
Het |
Sall4 |
A |
C |
2: 168,598,162 (GRCm39) |
L195R |
probably damaging |
Het |
Sh3gl2 |
T |
C |
4: 85,297,618 (GRCm39) |
S199P |
possibly damaging |
Het |
Shank1 |
G |
T |
7: 43,994,416 (GRCm39) |
R859L |
unknown |
Het |
Thsd7b |
A |
G |
1: 130,117,919 (GRCm39) |
E1445G |
possibly damaging |
Het |
Tnfaip6 |
A |
G |
2: 51,942,339 (GRCm39) |
E216G |
probably benign |
Het |
Tram1 |
T |
C |
1: 13,639,827 (GRCm39) |
T307A |
probably benign |
Het |
Trpv5 |
A |
G |
6: 41,637,277 (GRCm39) |
V354A |
probably benign |
Het |
Tyro3 |
A |
G |
2: 119,643,774 (GRCm39) |
E745G |
probably damaging |
Het |
Vmn1r68 |
A |
T |
7: 10,261,408 (GRCm39) |
I230N |
probably damaging |
Het |
Vmn2r28 |
A |
T |
7: 5,491,357 (GRCm39) |
W297R |
probably damaging |
Het |
Vrk3 |
A |
T |
7: 44,412,460 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
T |
C |
3: 5,465,845 (GRCm39) |
V2001A |
probably benign |
Het |
Zfp512b |
AG |
AGG |
2: 181,230,556 (GRCm39) |
|
probably null |
Het |
|
Other mutations in C4bp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:C4bp
|
APN |
1 |
130,566,871 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01349:C4bp
|
APN |
1 |
130,570,665 (GRCm39) |
intron |
probably benign |
|
IGL01401:C4bp
|
APN |
1 |
130,575,801 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02252:C4bp
|
APN |
1 |
130,564,524 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02903:C4bp
|
APN |
1 |
130,583,722 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02958:C4bp
|
APN |
1 |
130,564,532 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03061:C4bp
|
APN |
1 |
130,564,454 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4434001:C4bp
|
UTSW |
1 |
130,584,947 (GRCm39) |
missense |
probably benign |
0.14 |
R0989:C4bp
|
UTSW |
1 |
130,570,790 (GRCm39) |
missense |
probably benign |
0.02 |
R1728:C4bp
|
UTSW |
1 |
130,570,725 (GRCm39) |
missense |
probably benign |
0.04 |
R1729:C4bp
|
UTSW |
1 |
130,570,725 (GRCm39) |
missense |
probably benign |
0.04 |
R1730:C4bp
|
UTSW |
1 |
130,570,725 (GRCm39) |
missense |
probably benign |
0.04 |
R1739:C4bp
|
UTSW |
1 |
130,570,725 (GRCm39) |
missense |
probably benign |
0.04 |
R1762:C4bp
|
UTSW |
1 |
130,570,725 (GRCm39) |
missense |
probably benign |
0.04 |
R1783:C4bp
|
UTSW |
1 |
130,570,725 (GRCm39) |
missense |
probably benign |
0.04 |
R1784:C4bp
|
UTSW |
1 |
130,570,725 (GRCm39) |
missense |
probably benign |
0.04 |
R1785:C4bp
|
UTSW |
1 |
130,570,725 (GRCm39) |
missense |
probably benign |
0.04 |
R1942:C4bp
|
UTSW |
1 |
130,583,804 (GRCm39) |
splice site |
probably benign |
|
R2006:C4bp
|
UTSW |
1 |
130,575,769 (GRCm39) |
nonsense |
probably null |
|
R4446:C4bp
|
UTSW |
1 |
130,570,692 (GRCm39) |
missense |
probably benign |
0.06 |
R4551:C4bp
|
UTSW |
1 |
130,564,464 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4552:C4bp
|
UTSW |
1 |
130,564,464 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4727:C4bp
|
UTSW |
1 |
130,566,922 (GRCm39) |
missense |
probably benign |
0.19 |
R4761:C4bp
|
UTSW |
1 |
130,581,158 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5620:C4bp
|
UTSW |
1 |
130,581,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R6110:C4bp
|
UTSW |
1 |
130,566,809 (GRCm39) |
nonsense |
probably null |
|
R6189:C4bp
|
UTSW |
1 |
130,564,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R6344:C4bp
|
UTSW |
1 |
130,583,752 (GRCm39) |
missense |
probably benign |
0.12 |
R6418:C4bp
|
UTSW |
1 |
130,583,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R6895:C4bp
|
UTSW |
1 |
130,563,943 (GRCm39) |
makesense |
probably null |
|
R6964:C4bp
|
UTSW |
1 |
130,585,009 (GRCm39) |
missense |
probably damaging |
0.97 |
R8051:C4bp
|
UTSW |
1 |
130,583,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R8156:C4bp
|
UTSW |
1 |
130,566,824 (GRCm39) |
missense |
probably benign |
0.06 |
R8297:C4bp
|
UTSW |
1 |
130,564,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R8400:C4bp
|
UTSW |
1 |
130,564,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9424:C4bp
|
UTSW |
1 |
130,584,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R9428:C4bp
|
UTSW |
1 |
130,581,094 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACCTTAATGCATTGAGTAGC -3'
(R):5'- GCTATGATGCCTGTCCCTGAAC -3'
Sequencing Primer
(F):5'- ATGCATTGAGTAGCTCTTAGCC -3'
(R):5'- ATCAGTTGTAAAGTGTGGGCCCC -3'
|
Posted On |
2015-04-06 |