Incidental Mutation 'IGL02957:C8b'
ID365179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C8b
Ensembl Gene ENSMUSG00000029656
Gene Namecomplement component 8, beta polypeptide
Synonyms4930439B20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02957
Quality Score
Status
Chromosome4
Chromosomal Location104766317-104804548 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104766455 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 20 (T20A)
Ref Sequence ENSEMBL: ENSMUSP00000066940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031663] [ENSMUST00000065072]
Predicted Effect probably benign
Transcript: ENSMUST00000031663
AA Change: T20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: T20A

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TSP1 66 116 3.17e-7 SMART
LDLa 120 156 1.78e-10 SMART
MACPF 290 497 3.6e-65 SMART
Blast:EGF 501 534 9e-12 BLAST
TSP1 547 584 1.17e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065072
AA Change: T20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: T20A

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TSP1 66 116 3.17e-7 SMART
LDLa 120 156 1.78e-10 SMART
MACPF 224 431 3.6e-65 SMART
Blast:EGF 435 468 1e-11 BLAST
TSP1 481 518 1.17e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the beta subunit of complement component C8 that participates in the assembly of the complement membrane attack complex. The encoded preproprotein undergoes proteolytic processing to generate the beta subunit, which associates with the alpha and gamma subunits to form a trimeric complement component, C8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. This gene is located adjacent to the gene encoding the alpha subunit. [provided by RefSeq, Oct 2015]
PHENOTYPE: In a controlled microbial environment ("clean") laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095E13Rik G T 9: 36,637,850 T38K probably benign Het
Abi2 A G 1: 60,470,786 D262G probably damaging Het
Ahcyl1 G T 3: 107,667,642 Q462K probably damaging Het
Btbd11 T A 10: 85,633,837 M405K probably damaging Het
Btbd11 C T 10: 85,631,286 probably benign Het
Casd1 T A 6: 4,634,068 Y594N possibly damaging Het
Crtc2 C T 3: 90,262,533 P412L probably damaging Het
Cyp3a44 T A 5: 145,779,662 R373* probably null Het
Dnah10 A G 5: 124,763,133 D1277G probably benign Het
Dnah2 A T 11: 69,448,507 V3058E possibly damaging Het
Eif3l T C 15: 79,089,828 L481P probably benign Het
Fbxw7 A T 3: 84,976,237 T573S probably benign Het
Fcgbp C A 7: 28,091,847 Y844* probably null Het
Fcrls C A 3: 87,262,194 V13F possibly damaging Het
Gbx2 T G 1: 89,930,653 S35R probably benign Het
Gm10767 A T 13: 66,908,213 probably benign Het
H2-M9 A G 17: 36,642,157 L86S probably benign Het
Hebp1 C T 6: 135,137,992 G157D probably benign Het
Igf2bp3 C A 6: 49,087,404 V560L probably benign Het
Igsf10 A G 3: 59,330,864 I632T probably damaging Het
Kcnab2 A T 4: 152,435,869 S5T possibly damaging Het
Kcnh5 T C 12: 75,007,665 S502G probably benign Het
Lpcat2 T A 8: 92,875,584 Y224* probably null Het
Mcrip2 A G 17: 25,868,525 V24A probably damaging Het
Mttp T C 3: 138,109,081 K493E possibly damaging Het
Myl7 A G 11: 5,897,137 S139P possibly damaging Het
Npepps C T 11: 97,242,652 R268H probably damaging Het
Oas1c C T 5: 120,805,413 W18* probably null Het
Olfr1328 G T 4: 118,934,119 T241N probably damaging Het
P4ha3 T C 7: 100,318,905 probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkhd1l1 T A 15: 44,512,908 W989R probably damaging Het
Podxl A G 6: 31,528,449 probably benign Het
Pot1b T C 17: 55,700,009 Y36C probably damaging Het
Ppme1 A T 7: 100,338,440 I103K possibly damaging Het
Ppp1r12a T C 10: 108,198,918 I108T probably damaging Het
Pramel1 A G 4: 143,397,598 H281R probably benign Het
Prep T C 10: 45,126,030 V427A probably benign Het
Prkce A G 17: 86,496,026 D451G possibly damaging Het
Prrc2c A G 1: 162,706,535 probably benign Het
Rrm2 A G 12: 24,708,441 N32S probably damaging Het
Sema6a A G 18: 47,249,224 L752P probably damaging Het
Sik3 T A 9: 46,195,845 I429N possibly damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Stk32a A T 18: 43,311,992 M284L probably benign Het
Syde2 T C 3: 145,989,179 probably benign Het
Tcta G A 9: 108,305,332 S91F possibly damaging Het
Traf3ip2 A T 10: 39,654,410 T517S probably damaging Het
Trpv3 A G 11: 73,285,872 Y359C probably damaging Het
Vmn1r66 A G 7: 10,274,810 S99P probably damaging Het
Vmn2r8 G A 5: 108,802,225 T252M probably benign Het
Wdr27 A T 17: 14,910,110 probably benign Het
Yipf1 A G 4: 107,336,150 T78A probably damaging Het
Zfp735 A T 11: 73,710,929 Y233F probably benign Het
Other mutations in C8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:C8b APN 4 104801334 splice site probably benign
IGL01145:C8b APN 4 104780580 missense probably benign 0.25
IGL01768:C8b APN 4 104786954 missense probably benign 0.00
IGL02347:C8b APN 4 104786954 missense probably benign 0.00
IGL02488:C8b APN 4 104804081 missense probably benign
IGL02979:C8b APN 4 104774388 missense probably damaging 0.99
IGL02995:C8b APN 4 104801328 splice site probably benign
IGL03294:C8b APN 4 104780691 missense probably benign 0.06
R0568:C8b UTSW 4 104793380 missense probably benign 0.39
R1015:C8b UTSW 4 104786960 missense probably benign 0.19
R1191:C8b UTSW 4 104793323 missense probably damaging 1.00
R1401:C8b UTSW 4 104784482 missense possibly damaging 0.72
R3824:C8b UTSW 4 104783009 missense probably benign 0.42
R4611:C8b UTSW 4 104790644 missense probably damaging 0.98
R4756:C8b UTSW 4 104786886 missense probably benign
R4845:C8b UTSW 4 104791812 missense possibly damaging 0.87
R5355:C8b UTSW 4 104780663 missense probably benign 0.01
R5436:C8b UTSW 4 104800349 nonsense probably null
R5561:C8b UTSW 4 104784448 missense possibly damaging 0.89
R5967:C8b UTSW 4 104793333 missense possibly damaging 0.79
R6744:C8b UTSW 4 104774346 missense probably damaging 1.00
R6899:C8b UTSW 4 104786874 missense probably benign 0.02
R6977:C8b UTSW 4 104786996 missense possibly damaging 0.82
R7088:C8b UTSW 4 104793343 missense probably benign 0.12
R7224:C8b UTSW 4 104780598 missense probably damaging 1.00
R7278:C8b UTSW 4 104780627 missense probably damaging 1.00
R8058:C8b UTSW 4 104790614 missense probably damaging 0.96
Posted On2015-12-18