Incidental Mutation 'R6110:C4bp'
ID 484758
Institutional Source Beutler Lab
Gene Symbol C4bp
Ensembl Gene ENSMUSG00000026405
Gene Name complement component 4 binding protein
Synonyms
MMRRC Submission 044428-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6110 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 130563658-130589394 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 130566809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 177 (K177*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027657] [ENSMUST00000137276]
AlphaFold P08607
Predicted Effect probably null
Transcript: ENSMUST00000027657
AA Change: K356*
SMART Domains Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: K356*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
AA Change: K177*
SMART Domains Protein: ENSMUSP00000130533
Gene: ENSMUSG00000026405
AA Change: K177*

DomainStartEndE-ValueType
CCP 16 75 4.59e-10 SMART
CCP 80 124 1.38e0 SMART
CCP 125 177 7.28e-13 SMART
Meta Mutation Damage Score 0.9716 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.7%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7b T C 4: 56,740,224 (GRCm39) E378G probably damaging Het
Adam17 A T 12: 21,403,949 (GRCm39) V99E probably damaging Het
Alkal2 G A 12: 30,937,057 (GRCm39) R90Q probably damaging Het
Amy1 C T 3: 113,355,549 (GRCm39) V309M probably damaging Het
Apob T C 12: 8,061,883 (GRCm39) L3455P probably damaging Het
Ash1l T A 3: 88,892,436 (GRCm39) H1438Q probably damaging Het
BC024139 A G 15: 76,003,996 (GRCm39) S757P probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
C2cd3 T A 7: 100,090,283 (GRCm39) F462Y probably damaging Het
Cacna1h G T 17: 25,610,250 (GRCm39) P752Q probably benign Het
Cd34 G A 1: 194,631,877 (GRCm39) probably null Het
Cimap1a G T 7: 140,428,554 (GRCm39) R73L possibly damaging Het
Clptm1 G A 7: 19,367,731 (GRCm39) probably benign Het
Dip2c T C 13: 9,673,802 (GRCm39) S1081P probably damaging Het
Dnm3 CAGCCTTCGTTGGGTG C 1: 161,838,637 (GRCm39) probably benign Het
Efcab6 T G 15: 83,763,835 (GRCm39) M1166L possibly damaging Het
Fam151a G A 4: 106,605,395 (GRCm39) V586M probably damaging Het
Fap T G 2: 62,385,114 (GRCm39) Y54S possibly damaging Het
Grhl1 A G 12: 24,630,746 (GRCm39) probably null Het
Hcrtr2 T C 9: 76,167,064 (GRCm39) Y91C probably damaging Het
Ift70b T C 2: 75,768,144 (GRCm39) Y203C probably damaging Het
Kat6b C T 14: 21,720,555 (GRCm39) R1745C probably damaging Het
Kdm5a T C 6: 120,389,267 (GRCm39) L898P probably damaging Het
Lipo5 T C 19: 33,445,317 (GRCm39) Q84R unknown Het
Mfn1 G A 3: 32,617,173 (GRCm39) M18I probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Mtfmt T C 9: 65,354,586 (GRCm39) probably null Het
Nsun2 C G 13: 69,775,767 (GRCm39) Q404E probably benign Het
Or1j17 T C 2: 36,578,559 (GRCm39) S182P probably benign Het
Or2at4 C T 7: 99,384,377 (GRCm39) S9L possibly damaging Het
Or52d1 A G 7: 103,755,779 (GRCm39) M98V probably damaging Het
Or5b123 C T 19: 13,597,249 (GRCm39) A241V probably benign Het
Or5j3 T A 2: 86,129,019 (GRCm39) N286K probably damaging Het
Or5p70 G T 7: 107,995,035 (GRCm39) S236I possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Parp9 A G 16: 35,773,996 (GRCm39) I90V possibly damaging Het
Pate7 A T 9: 35,688,442 (GRCm39) S48T possibly damaging Het
Pax2 T A 19: 44,779,175 (GRCm39) S183T probably damaging Het
Pcdha11 T C 18: 37,144,509 (GRCm39) L200P probably damaging Het
Pcdhb4 T C 18: 37,441,482 (GRCm39) V264A possibly damaging Het
Plch1 G T 3: 63,606,279 (GRCm39) N1199K possibly damaging Het
Ptpn22 A G 3: 103,819,331 (GRCm39) N795S probably damaging Het
Qars1 T C 9: 108,385,297 (GRCm39) S6P probably benign Het
Sema3a T C 5: 13,630,969 (GRCm39) Y502H probably damaging Het
Sema4f A G 6: 82,914,085 (GRCm39) I91T probably damaging Het
Setx T G 2: 29,030,302 (GRCm39) I247S probably damaging Het
Slc9c1 T C 16: 45,395,731 (GRCm39) L594P probably damaging Het
Tnfrsf19 A T 14: 61,208,588 (GRCm39) M311K probably benign Het
Tubgcp4 T C 2: 121,024,589 (GRCm39) I588T probably benign Het
Tyro3 T C 2: 119,643,304 (GRCm39) V655A probably damaging Het
Uba7 T A 9: 107,856,138 (GRCm39) D504E probably benign Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Vldlr A G 19: 27,215,477 (GRCm39) E117G possibly damaging Het
Vmn2r44 A T 7: 8,381,005 (GRCm39) I296K probably damaging Het
Vmn2r80 T A 10: 79,017,837 (GRCm39) C521S probably damaging Het
Wnk1 A T 6: 119,949,958 (GRCm39) probably benign Het
Xpo1 T C 11: 23,237,434 (GRCm39) S766P probably damaging Het
Zcchc4 A G 5: 52,953,486 (GRCm39) N165S possibly damaging Het
Other mutations in C4bp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAAGGTTGGAAACTGCCATG -3'
(R):5'- GACACATCTTACAAGCTTACCTTC -3'

Sequencing Primer
(F):5'- CCATGGGCATGTACCGAGAG -3'
(R):5'- TCCCTTGTTTCATCATCAAGACTGTG -3'
Posted On 2017-08-16