Incidental Mutation 'R8400:C4bp'
| ID |
647795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C4bp
|
| Ensembl Gene |
ENSMUSG00000026405 |
| Gene Name |
complement component 4 binding protein |
| Synonyms |
|
| MMRRC Submission |
067763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
130563658-130589394 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 130564484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 400
(C400F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027657]
|
| AlphaFold |
P08607 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027657
AA Change: C400F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: C400F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,243,925 (GRCm39) |
M1929I |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,248,218 (GRCm39) |
I2655T |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,764,268 (GRCm39) |
V887A |
possibly damaging |
Het |
| Acot10 |
T |
C |
15: 20,666,258 (GRCm39) |
E161G |
possibly damaging |
Het |
| Astn1 |
C |
T |
1: 158,484,670 (GRCm39) |
P919L |
probably benign |
Het |
| Atp1a4 |
T |
A |
1: 172,062,061 (GRCm39) |
D688V |
probably damaging |
Het |
| Col6a6 |
A |
C |
9: 105,651,995 (GRCm39) |
D1005E |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,086,360 (GRCm39) |
R422C |
probably benign |
Het |
| Cutc |
T |
C |
19: 43,741,644 (GRCm39) |
S15P |
probably benign |
Het |
| Dgkb |
T |
C |
12: 38,652,837 (GRCm39) |
|
probably null |
Het |
| Disc1 |
T |
C |
8: 125,959,732 (GRCm39) |
V748A |
probably benign |
Het |
| Dmbt1 |
C |
G |
7: 130,684,317 (GRCm39) |
D778E |
unknown |
Het |
| Dmxl2 |
T |
C |
9: 54,291,037 (GRCm39) |
Y2471C |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,643,814 (GRCm39) |
N243K |
probably benign |
Het |
| Fchsd2 |
A |
T |
7: 100,902,780 (GRCm39) |
Q386L |
possibly damaging |
Het |
| Gm904 |
C |
A |
13: 50,797,453 (GRCm39) |
P49Q |
probably damaging |
Het |
| H2-Q10 |
C |
T |
17: 35,781,374 (GRCm39) |
R59C |
probably damaging |
Het |
| Ier5l |
A |
G |
2: 30,363,105 (GRCm39) |
Y307H |
possibly damaging |
Het |
| Kmt2e |
C |
A |
5: 23,702,090 (GRCm39) |
T906K |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,493,434 (GRCm39) |
R467W |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,364,213 (GRCm39) |
T2508K |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,264,431 (GRCm39) |
M784L |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,937 (GRCm39) |
C391* |
probably null |
Het |
| Nubp2 |
A |
C |
17: 25,103,439 (GRCm39) |
M146R |
probably damaging |
Het |
| Or10q3 |
T |
A |
19: 11,848,578 (GRCm39) |
M1L |
probably damaging |
Het |
| Or1a1b |
C |
T |
11: 74,097,221 (GRCm39) |
V274M |
possibly damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,876 (GRCm39) |
S21C |
probably benign |
Het |
| Or2b2 |
G |
A |
13: 21,888,085 (GRCm39) |
V305M |
probably benign |
Het |
| Or4k45 |
A |
T |
2: 111,395,747 (GRCm39) |
L14H |
probably damaging |
Het |
| Or7e166 |
A |
T |
9: 19,624,389 (GRCm39) |
N89Y |
probably benign |
Het |
| Otud1 |
T |
C |
2: 19,663,189 (GRCm39) |
V106A |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,453 (GRCm39) |
Y755* |
probably null |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,477 (GRCm39) |
|
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,941,353 (GRCm39) |
E648G |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,435,756 (GRCm39) |
T794A |
probably benign |
Het |
| Spc24 |
A |
T |
9: 21,669,026 (GRCm39) |
L87H |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Stra6l |
G |
A |
4: 45,864,905 (GRCm39) |
R77Q |
probably damaging |
Het |
| Tdrd1 |
G |
A |
19: 56,837,081 (GRCm39) |
V472M |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,823,961 (GRCm39) |
I948K |
possibly damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,434 (GRCm39) |
V31A |
probably benign |
Het |
| Vmn1r158 |
A |
T |
7: 22,489,305 (GRCm39) |
C301* |
probably null |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,486 (GRCm39) |
L368* |
probably null |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,308 (GRCm39) |
T236A |
probably benign |
Het |
| Vwa1 |
T |
C |
4: 155,857,225 (GRCm39) |
H191R |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,344,135 (GRCm39) |
V838E |
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 |
|
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 |
|
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'- GTTCTATGCCAACTCCCCAAATG -3'
(R):5'- GCATACACTGTCACAAATGTTCAAC -3'
Sequencing Primer
(F):5'- TATGCCAACTCCCCAAATGACATG -3'
(R):5'- AGCTACTTCAAGTTCAGTTCATTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation