Incidental Mutation 'IGL01349:C4bp'
ID |
75293 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
C4bp
|
Ensembl Gene |
ENSMUSG00000026405 |
Gene Name |
complement component 4 binding protein |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01349
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
130563658-130589394 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 130570665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027657]
[ENSMUST00000137276]
|
AlphaFold |
P08607 |
Predicted Effect |
probably benign
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 benign
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 benign
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,242,076 (GRCm39) |
S1313L |
probably benign |
Het |
Adam28 |
T |
C |
14: 68,848,455 (GRCm39) |
H667R |
probably benign |
Het |
Arap1 |
T |
C |
7: 101,036,359 (GRCm39) |
V382A |
possibly damaging |
Het |
Arih2 |
T |
C |
9: 108,482,609 (GRCm39) |
Y444C |
probably damaging |
Het |
Asxl3 |
T |
G |
18: 22,657,294 (GRCm39) |
V1768G |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,798,979 (GRCm39) |
M869K |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,881,126 (GRCm39) |
Y1167F |
probably benign |
Het |
Cgn |
T |
A |
3: 94,674,486 (GRCm39) |
K884* |
probably null |
Het |
Chd1l |
T |
C |
3: 97,498,550 (GRCm39) |
Y283C |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,984,603 (GRCm39) |
V157A |
probably benign |
Het |
Dcc |
T |
A |
18: 71,503,808 (GRCm39) |
D950V |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,050,978 (GRCm39) |
F918L |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,366,432 (GRCm39) |
N1890S |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,295,059 (GRCm39) |
|
probably benign |
Het |
Eif4b |
C |
T |
15: 101,999,858 (GRCm39) |
T412I |
probably benign |
Het |
Eloa |
A |
C |
4: 135,741,758 (GRCm39) |
Y29D |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,385,752 (GRCm39) |
F279S |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,718,207 (GRCm39) |
D316G |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,058,531 (GRCm39) |
S363G |
probably benign |
Het |
Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
Il17rd |
T |
A |
14: 26,817,901 (GRCm39) |
S197T |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,450,083 (GRCm39) |
E147G |
possibly damaging |
Het |
Itk |
T |
A |
11: 46,232,027 (GRCm39) |
T303S |
possibly damaging |
Het |
Kcnh6 |
A |
G |
11: 105,914,743 (GRCm39) |
D716G |
possibly damaging |
Het |
Lca5 |
A |
G |
9: 83,308,670 (GRCm39) |
S59P |
probably damaging |
Het |
Lrrc40 |
T |
C |
3: 157,764,302 (GRCm39) |
|
probably benign |
Het |
Mmp7 |
T |
C |
9: 7,699,335 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,359,983 (GRCm39) |
T4427A |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,734,472 (GRCm39) |
D513G |
possibly damaging |
Het |
Or2y1b |
T |
A |
11: 49,209,127 (GRCm39) |
Y251* |
probably null |
Het |
Pde7a |
C |
T |
3: 19,283,843 (GRCm39) |
|
probably benign |
Het |
Pira2 |
T |
C |
7: 3,847,138 (GRCm39) |
T135A |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,506,558 (GRCm39) |
Y397C |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,927,122 (GRCm39) |
M2187K |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,602,125 (GRCm39) |
I4586F |
possibly damaging |
Het |
Serpinb3c |
A |
T |
1: 107,200,513 (GRCm39) |
M210K |
probably damaging |
Het |
Slc22a19 |
C |
A |
19: 7,651,792 (GRCm39) |
V472F |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,528,863 (GRCm39) |
I462T |
probably benign |
Het |
Spag11b |
A |
T |
8: 19,191,492 (GRCm39) |
H55L |
probably damaging |
Het |
Trpv5 |
G |
T |
6: 41,652,309 (GRCm39) |
N125K |
possibly damaging |
Het |
Ubr4 |
G |
T |
4: 139,208,039 (GRCm39) |
R4940L |
unknown |
Het |
Vcan |
T |
A |
13: 89,852,062 (GRCm39) |
H966L |
probably damaging |
Het |
Vmn1r204 |
T |
A |
13: 22,740,504 (GRCm39) |
I45K |
probably damaging |
Het |
Vnn3 |
A |
T |
10: 23,727,814 (GRCm39) |
I75F |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,794,091 (GRCm39) |
M2256L |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,259,353 (GRCm39) |
L1642M |
probably damaging |
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 |
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 |
|
R3877:C4bp
|
UTSW |
1 |
130,575,764 (GRCm39) |
critical splice donor site |
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 |
|
Posted On |
2013-10-07 |