Incidental Mutation 'R6895:C4bp'
| ID |
538267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C4bp
|
| Ensembl Gene |
ENSMUSG00000026405 |
| Gene Name |
complement component 4 binding protein |
| Synonyms |
|
| MMRRC Submission |
044989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6895 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130563658-130589394 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 130563943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 470
(*470W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027657]
|
| AlphaFold |
P08607 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027657
AA Change: *470W
|
| SMART Domains |
Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: *470W
| 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: 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
A |
G |
18: 12,394,046 (GRCm39) |
V256A |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,110,076 (GRCm39) |
D139G |
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,685,723 (GRCm39) |
W100R |
probably damaging |
Het |
| Capn8 |
C |
A |
1: 182,456,234 (GRCm39) |
D661E |
possibly damaging |
Het |
| Car14 |
T |
C |
3: 95,805,472 (GRCm39) |
T334A |
probably benign |
Het |
| Cfhr4 |
G |
A |
1: 139,668,210 (GRCm39) |
P308S |
possibly damaging |
Het |
| Chd6 |
T |
A |
2: 160,830,260 (GRCm39) |
T1012S |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,529,910 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
G |
12: 69,244,437 (GRCm39) |
V208A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,958,926 (GRCm39) |
W2986R |
probably damaging |
Het |
| Epb42 |
G |
A |
2: 120,867,104 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
G |
13: 49,045,497 (GRCm39) |
F780L |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,372,283 (GRCm39) |
F655S |
probably damaging |
Het |
| Homer3 |
T |
C |
8: 70,737,955 (GRCm39) |
S2P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,038,883 (GRCm39) |
V207A |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,557 (GRCm39) |
|
probably null |
Het |
| Jak1 |
C |
T |
4: 101,011,734 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,052,869 (GRCm39) |
I220V |
probably benign |
Het |
| Kat6a |
T |
G |
8: 23,425,799 (GRCm39) |
S1115A |
possibly damaging |
Het |
| Larp4 |
T |
G |
15: 99,905,611 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
T |
G |
12: 36,259,717 (GRCm39) |
D43A |
probably damaging |
Het |
| Mptx2 |
A |
C |
1: 173,105,252 (GRCm39) |
V13G |
probably benign |
Het |
| Nmbr |
A |
T |
10: 14,645,704 (GRCm39) |
*258Y |
probably null |
Het |
| Nup210l |
C |
T |
3: 90,067,231 (GRCm39) |
A757V |
probably damaging |
Het |
| Nup62 |
A |
G |
7: 44,479,157 (GRCm39) |
K391E |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 94,970,314 (GRCm39) |
I71K |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,323 (GRCm39) |
C177S |
probably damaging |
Het |
| Or8b51 |
A |
C |
9: 38,569,385 (GRCm39) |
L101R |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,254,346 (GRCm39) |
M547T |
possibly damaging |
Het |
| Ropn1 |
A |
T |
16: 34,497,668 (GRCm39) |
I187F |
possibly damaging |
Het |
| Rtp3 |
T |
C |
9: 110,816,264 (GRCm39) |
R96G |
possibly damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,188,227 (GRCm39) |
S197R |
probably damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,185,440 (GRCm39) |
H903R |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,513,523 (GRCm39) |
A482S |
probably damaging |
Het |
| Slc2a12 |
G |
T |
10: 22,568,084 (GRCm39) |
A504S |
probably damaging |
Het |
| Slitrk5 |
C |
A |
14: 111,919,085 (GRCm39) |
P903Q |
probably damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,133 (GRCm39) |
H10L |
probably benign |
Het |
| Tex46 |
T |
C |
4: 136,340,212 (GRCm39) |
V99A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,413,604 (GRCm38) |
V1024A |
probably benign |
Het |
| Ugt2b36 |
G |
A |
5: 87,240,157 (GRCm39) |
T76I |
probably benign |
Het |
| Usp31 |
G |
T |
7: 121,252,399 (GRCm39) |
T747K |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly 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 |
|
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 |
|
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'- CCAAAGTGAATTGTGCACCTC -3'
(R):5'- CTTTCAGGAGGCCTCTGAAGAC -3'
Sequencing Primer
(F):5'- GAGCCACAAGATGATAGTTTCATAG -3'
(R):5'- TCTGAAGACCTTAAGCCTGCG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation