Incidental Mutation 'IGL01327:C8g'
ID 74335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C8g
Ensembl Gene ENSMUSG00000015083
Gene Name complement component 8, gamma polypeptide
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01327
Quality Score
Status
Chromosome 2
Chromosomal Location 25498651-25501719 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25499077 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 165 (F165L)
Ref Sequence ENSEMBL: ENSMUSP00000041855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015227] [ENSMUST00000015239] [ENSMUST00000040042] [ENSMUST00000124375]
AlphaFold Q8VCG4
Predicted Effect probably damaging
Transcript: ENSMUST00000015227
AA Change: F131L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083
AA Change: F131L

DomainStartEndE-ValueType
Pfam:Lipocalin 14 152 3.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000015239
SMART Domains Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095

DomainStartEndE-ValueType
FBOX 9 49 7.7e-6 SMART
WD40 81 120 3.11e-10 SMART
WD40 456 500 1.98e1 SMART
WD40 503 542 6.28e-6 SMART
low complexity region 553 563 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000040042
AA Change: F165L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041855
Gene: ENSMUSG00000015083
AA Change: F165L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Lipocalin 48 186 3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124258
Predicted Effect probably benign
Transcript: ENSMUST00000124375
SMART Domains Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095

DomainStartEndE-ValueType
SCOP:d1jjub_ 116 246 1e-11 SMART
Blast:WD40 172 216 2e-25 BLAST
Blast:WD40 219 246 7e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153139
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted protein that is a core component of the complement 8 (C8) complex. C8 is part of the membrane attack complex which participates in the innate immune response against bacterial pathogens. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 147,945,064 V497E probably damaging Het
4930563D23Rik T C 16: 92,320,773 Y209C probably benign Het
Adcy7 T G 8: 88,318,790 probably benign Het
Aldh1a2 T A 9: 71,285,966 F486I possibly damaging Het
Alox12 T A 11: 70,254,549 H66L probably benign Het
Apoh T G 11: 108,397,361 Y102D probably damaging Het
Arl9 T C 5: 77,006,554 V43A possibly damaging Het
Atf6 A G 1: 170,788,606 probably null Het
Atp4a T A 7: 30,713,250 I127N possibly damaging Het
AY358078 T A 14: 51,805,709 probably benign Het
Baat T G 4: 49,490,338 K249Q probably damaging Het
Brat1 C T 5: 140,718,208 Q739* probably null Het
Cel T G 2: 28,557,955 D353A possibly damaging Het
Col6a1 G T 10: 76,710,979 T803K unknown Het
Cpxm1 A G 2: 130,396,357 L95P probably benign Het
Ctsr A G 13: 61,162,675 probably benign Het
Cyth1 A G 11: 118,193,613 probably null Het
Dync1h1 A T 12: 110,616,692 probably benign Het
Ezh1 C T 11: 101,203,436 C407Y probably damaging Het
Gm3696 A T 14: 7,090,701 W38R probably benign Het
Gm9611 T C 14: 42,294,665 T39A possibly damaging Het
Gnpat T A 8: 124,878,633 L287H probably damaging Het
Golm1 G T 13: 59,645,144 N182K possibly damaging Het
Hdac6 T C X: 7,931,774 M899V probably benign Het
Hsf3 T A X: 96,314,972 M272L probably benign Het
Kif19a C T 11: 114,781,799 probably benign Het
Lcn2 T G 2: 32,386,018 Y100S possibly damaging Het
Lrrc8d T A 5: 105,812,265 S180R probably damaging Het
Ly6h A G 15: 75,565,099 probably benign Het
Macf1 T C 4: 123,509,912 N705D probably benign Het
Mst1r C T 9: 107,907,844 P234S probably benign Het
Msto1 T A 3: 88,910,632 probably null Het
Myo5a T A 9: 75,187,538 probably benign Het
Nipa1 T C 7: 55,979,661 I235V probably benign Het
Nlgn3 T C X: 101,318,622 V399A probably benign Het
Olfr1367 A G 13: 21,347,207 N93S probably benign Het
Olfr412 T A 11: 74,364,912 M81K possibly damaging Het
Pih1d1 T C 7: 45,159,975 S289P probably benign Het
Ppl T C 16: 5,087,644 N1596D probably benign Het
Psmb6 T A 11: 70,526,586 S114R possibly damaging Het
Pum1 C A 4: 130,730,543 Q289K probably damaging Het
Shkbp1 T C 7: 27,355,251 I75V probably benign Het
Slc24a3 T A 2: 145,602,558 I284N probably benign Het
Slc44a3 C T 3: 121,527,193 G53D probably damaging Het
Slc9a4 A C 1: 40,629,405 D736A probably benign Het
Stra6 A G 9: 58,152,571 D605G probably benign Het
Tas2r126 T A 6: 42,434,750 H72Q probably benign Het
Tbrg1 C T 9: 37,653,112 R166Q probably benign Het
Thumpd1 C T 7: 119,720,702 G14R probably benign Het
Ticrr C T 7: 79,694,461 T1358I probably benign Het
Tmtc2 A T 10: 105,348,479 N518K probably benign Het
Trpm4 C A 7: 45,315,073 W533C probably damaging Het
Tsen54 T C 11: 115,821,712 Y119H possibly damaging Het
Tulp3 G A 6: 128,327,634 T219M probably damaging Het
Usp19 T C 9: 108,498,961 L1000S possibly damaging Het
Vps16 A T 2: 130,437,696 Y43F probably benign Het
Vsig1 T A X: 140,937,680 V283E possibly damaging Het
Other mutations in C8g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02176:C8g APN 2 25499110 missense probably damaging 1.00
IGL03002:C8g APN 2 25498811 makesense probably null
IGL03402:C8g APN 2 25498812 makesense probably null
R1466:C8g UTSW 2 25500216 missense probably benign 0.00
R1466:C8g UTSW 2 25500216 missense probably benign 0.00
R1584:C8g UTSW 2 25500216 missense probably benign 0.00
R1782:C8g UTSW 2 25499082 missense possibly damaging 0.58
R4063:C8g UTSW 2 25499413 missense probably damaging 0.99
R5864:C8g UTSW 2 25498943 missense probably damaging 1.00
X0060:C8g UTSW 2 25499974 missense probably damaging 1.00
Posted On 2013-10-07