Incidental Mutation 'IGL02903:C4bp'
ID363691
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 #IGL02903
Quality Score
Status
Chromosome1
Chromosomal Location130634773-130661632 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 130655985 bp
ZygosityHeterozygous
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]
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

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 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

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 noncoding transcript
Transcript: ENSMUST00000190624
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
4931417E11Rik A G 6: 73,469,120 Y149H probably damaging Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cmtr2 A G 8: 110,222,878 T607A probably benign Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dmrtc1b T A X: 102,713,567 L206Q probably benign Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcmf1 A T 6: 72,858,883 V21E possibly damaging Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Lemd2 A G 17: 27,193,210 probably benign Het
Magee1 G T X: 105,123,339 R910L probably damaging Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Mfsd4b3 T A 10: 39,947,643 E207V possibly damaging Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Rsbn1 T C 3: 103,928,569 S308P probably damaging Het
Smr2 A T 5: 88,108,630 I56F probably benign Het
Wdfy4 C T 14: 33,109,650 R873H probably damaging Het
Other mutations in C4bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:C4bp APN 1 130639134 missense probably damaging 1.00
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
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
R8156:C4bp UTSW 1 130639087 missense probably benign 0.06
R8297:C4bp UTSW 1 130636745 missense probably damaging 1.00
R8400:C4bp UTSW 1 130636747 missense probably damaging 1.00
Posted On2015-12-18