Incidental Mutation 'IGL00465:C4bp'
ID332147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C4bp
Ensembl Gene ENSMUSG00000026405
Gene Namecomplement component 4 binding protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00465
Quality Score
Status
Chromosome1
Chromosomal Location130634773-130661632 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 130639134 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 335 (L335Q)
Ref Sequence ENSEMBL: ENSMUSP00000027657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027657] [ENSMUST00000137276]
Predicted Effect probably damaging
Transcript: ENSMUST00000027657
AA Change: L335Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: L335Q

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 unknown
Transcript: ENSMUST00000171642
AA Change: L156Q
SMART Domains Protein: ENSMUSP00000130533
Gene: ENSMUSG00000026405
AA Change: L156Q

DomainStartEndE-ValueType
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A G 7: 140,294,842 Y411C probably damaging Het
A1bg A T 15: 60,921,253 S2T probably damaging Het
Adamts13 T A 2: 26,973,555 W7R probably benign Het
Anks6 T A 4: 47,046,054 D279V probably damaging Het
Cd109 A T 9: 78,660,934 K299* probably null Het
Cd200r2 A T 16: 44,909,288 H102L probably damaging Het
Col12a1 A G 9: 79,697,581 Y662H probably damaging Het
Cyp2c37 T C 19: 40,001,997 F380L probably benign Het
Deup1 A G 9: 15,561,370 S549P probably damaging Het
Dysf G T 6: 84,199,848 probably null Het
Etaa1 A T 11: 17,947,825 C166* probably null Het
Fam227b T C 2: 126,144,325 probably null Het
Gucy1b2 T G 14: 62,403,200 Q752P probably benign Het
Hal T C 10: 93,490,069 probably null Het
Hao1 C A 2: 134,554,270 K21N probably damaging Het
Itga4 T C 2: 79,292,050 F536L probably benign Het
Lmod3 A T 6: 97,247,861 I333N probably damaging Het
Mgme1 T A 2: 144,279,516 D297E probably damaging Het
Myh2 G T 11: 67,178,833 probably benign Het
Myo7a A G 7: 98,102,626 M70T probably damaging Het
Nav3 T C 10: 109,852,746 T557A probably damaging Het
Nif3l1 C A 1: 58,455,686 H271Q possibly damaging Het
Nostrin A G 2: 69,185,554 probably benign Het
Nxn C A 11: 76,274,655 probably benign Het
Pcdhb22 A T 18: 37,520,132 D551V probably damaging Het
Pde4d A G 13: 109,936,687 D339G possibly damaging Het
Pkp4 T A 2: 59,338,755 S408T probably damaging Het
Pxmp2 T C 5: 110,283,716 T54A probably benign Het
Rif1 T A 2: 52,121,007 V2362E probably damaging Het
Rps6kl1 A G 12: 85,139,429 S276P probably benign Het
Scaf4 C A 16: 90,247,281 M601I unknown Het
Setd7 T A 3: 51,550,308 T33S probably benign Het
Shroom1 T A 11: 53,464,094 D280E probably benign Het
Slc35f2 G T 9: 53,798,014 probably null Het
Slitrk3 T A 3: 73,051,103 N112I probably damaging Het
Spag1 A G 15: 36,183,821 probably benign Het
Stx6 C T 1: 155,201,933 probably benign Het
Sun1 A T 5: 139,234,685 probably null Het
Tbl1xr1 G A 3: 22,192,268 probably null Het
Tmc2 T C 2: 130,261,304 S787P possibly damaging Het
Traf3ip3 C T 1: 193,194,820 probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Trpm1 G T 7: 64,247,467 M272I possibly damaging Het
Ttc21b T C 2: 66,242,775 E189G probably benign Het
Tubd1 T C 11: 86,555,068 probably benign Het
Vps13a T A 19: 16,752,175 T167S probably damaging Het
Zbtb3 A G 19: 8,803,665 D214G possibly damaging Het
Zfp658 A G 7: 43,567,356 D50G probably benign Het
Zfp976 T A 7: 42,613,685 I243L unknown Het
Other mutations in C4bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:C4bp APN 1 130642928 intron probably benign
IGL01401:C4bp APN 1 130648064 missense possibly damaging 0.95
IGL02252:C4bp APN 1 130636787 missense probably damaging 1.00
IGL02903:C4bp APN 1 130655985 missense probably damaging 1.00
IGL02958:C4bp APN 1 130636795 missense probably damaging 1.00
IGL03061:C4bp APN 1 130636717 missense probably damaging 0.98
PIT4434001:C4bp UTSW 1 130657210 missense probably benign 0.14
R0989:C4bp UTSW 1 130643053 missense probably benign 0.02
R1728:C4bp UTSW 1 130642988 missense probably benign 0.04
R1729:C4bp UTSW 1 130642988 missense probably benign 0.04
R1730:C4bp UTSW 1 130642988 missense probably benign 0.04
R1739:C4bp UTSW 1 130642988 missense probably benign 0.04
R1762:C4bp UTSW 1 130642988 missense probably benign 0.04
R1783:C4bp UTSW 1 130642988 missense probably benign 0.04
R1784:C4bp UTSW 1 130642988 missense probably benign 0.04
R1785:C4bp UTSW 1 130642988 missense probably benign 0.04
R1942:C4bp UTSW 1 130656067 splice site probably benign
R2006:C4bp UTSW 1 130648032 nonsense probably null
R3877:C4bp UTSW 1 130648027 critical splice donor site probably null
R4446:C4bp UTSW 1 130642955 missense probably benign 0.06
R4551:C4bp UTSW 1 130636727 missense possibly damaging 0.46
R4552:C4bp UTSW 1 130636727 missense possibly damaging 0.46
R4727:C4bp UTSW 1 130639185 missense probably benign 0.19
R4761:C4bp UTSW 1 130653421 missense possibly damaging 0.83
R5620:C4bp UTSW 1 130653353 missense probably damaging 1.00
R6110:C4bp UTSW 1 130639072 nonsense probably null
R6189:C4bp UTSW 1 130636819 missense probably damaging 1.00
R6344:C4bp UTSW 1 130656015 missense probably benign 0.12
R6418:C4bp UTSW 1 130656013 missense probably damaging 1.00
R6895:C4bp UTSW 1 130636206 makesense probably null
R6964:C4bp UTSW 1 130657272 missense probably damaging 0.97
R8051:C4bp UTSW 1 130655968 missense probably damaging 1.00
Posted On2015-08-05