Incidental Mutation 'IGL02903:C4bp'
ID |
363691 |
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 # |
IGL02903
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
130563658-130589394 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 130583722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 82
(T82I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027657]
[ENSMUST00000137276]
|
AlphaFold |
P08607 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027657
AA Change: T82I
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027657 Gene: ENSMUSG00000026405 AA Change: T82I
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 damaging
Transcript: ENSMUST00000137276
AA Change: T82I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121185 Gene: ENSMUSG00000026405 AA Change: T82I
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 |
noncoding transcript
Transcript: ENSMUST00000190624
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
T |
G |
6: 116,397,296 (GRCm39) |
N296T |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,045,004 (GRCm39) |
E301K |
probably damaging |
Het |
Astn1 |
A |
G |
1: 158,516,120 (GRCm39) |
S1237G |
probably damaging |
Het |
Atf6 |
G |
A |
1: 170,627,283 (GRCm39) |
P394S |
probably benign |
Het |
Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
Cask |
A |
T |
X: 13,418,686 (GRCm39) |
|
probably benign |
Het |
Cenpf |
A |
T |
1: 189,379,073 (GRCm39) |
S2906T |
probably damaging |
Het |
Cfl1 |
T |
C |
19: 5,542,828 (GRCm39) |
F103L |
probably benign |
Het |
Chrnb3 |
A |
T |
8: 27,876,834 (GRCm39) |
T83S |
probably damaging |
Het |
Cmtr2 |
A |
G |
8: 110,949,510 (GRCm39) |
T607A |
probably benign |
Het |
Cplane1 |
G |
T |
15: 8,299,262 (GRCm39) |
R3150M |
unknown |
Het |
Cplane1 |
G |
T |
15: 8,299,263 (GRCm39) |
R3150S |
unknown |
Het |
Cts7 |
A |
T |
13: 61,504,440 (GRCm39) |
|
probably benign |
Het |
Dgkz |
A |
T |
2: 91,770,307 (GRCm39) |
Y514N |
possibly damaging |
Het |
Dmrtc1b |
T |
A |
X: 101,757,173 (GRCm39) |
L206Q |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,075,363 (GRCm39) |
L397F |
probably damaging |
Het |
Gm6356 |
C |
T |
14: 6,973,735 (GRCm38) |
G27E |
probably damaging |
Het |
Hkdc1 |
C |
T |
10: 62,235,970 (GRCm39) |
|
probably null |
Het |
Jkampl |
A |
G |
6: 73,446,103 (GRCm39) |
Y149H |
probably damaging |
Het |
Kcmf1 |
A |
T |
6: 72,835,866 (GRCm39) |
V21E |
possibly damaging |
Het |
Kcnh4 |
T |
A |
11: 100,648,480 (GRCm39) |
T75S |
possibly damaging |
Het |
Lemd2 |
A |
G |
17: 27,412,184 (GRCm39) |
|
probably benign |
Het |
Magee1 |
G |
T |
X: 104,166,945 (GRCm39) |
R910L |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,307,092 (GRCm39) |
|
probably benign |
Het |
Mfsd4b3-ps |
T |
A |
10: 39,823,639 (GRCm39) |
E207V |
possibly damaging |
Het |
Or2ag15 |
A |
G |
7: 106,340,917 (GRCm39) |
S75P |
probably damaging |
Het |
Or7a38 |
A |
G |
10: 78,753,250 (GRCm39) |
D192G |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,180,217 (GRCm39) |
V1026A |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,953,870 (GRCm39) |
L942P |
probably damaging |
Het |
Ppp1r12b |
A |
T |
1: 134,883,387 (GRCm39) |
L45Q |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,425,736 (GRCm39) |
M69K |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,502,447 (GRCm39) |
T824A |
possibly damaging |
Het |
Rfwd3 |
T |
C |
8: 112,004,861 (GRCm39) |
T574A |
probably benign |
Het |
Rsbn1 |
T |
C |
3: 103,835,885 (GRCm39) |
S308P |
probably damaging |
Het |
Shisal2b |
T |
A |
13: 105,000,118 (GRCm39) |
Y35F |
probably benign |
Het |
Smr2 |
A |
T |
5: 88,256,489 (GRCm39) |
I56F |
probably benign |
Het |
Wdfy4 |
C |
T |
14: 32,831,607 (GRCm39) |
R873H |
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 |
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 |
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 |
2015-12-18 |