Incidental Mutation 'IGL02004:C4b'
ID 182230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C4b
Ensembl Gene ENSMUSG00000073418
Gene Name complement component 4B (Chido blood group)
Synonyms C4, Ss
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02004
Quality Score
Status
Chromosome 17
Chromosomal Location 34728380-34743882 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 34739010 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000069507]
AlphaFold P01029
Predicted Effect probably benign
Transcript: ENSMUST00000069507
SMART Domains Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:A2M_N 138 231 2e-19 PFAM
A2M_N_2 470 609 2.87e-26 SMART
ANATO 700 734 3.58e-12 SMART
low complexity region 761 771 N/A INTRINSIC
A2M 779 867 1.46e-27 SMART
Pfam:Thiol-ester_cl 995 1024 7.7e-13 PFAM
Pfam:A2M_comp 1047 1313 1.3e-82 PFAM
low complexity region 1441 1447 N/A INTRINSIC
A2M_recep 1475 1564 1.03e-36 SMART
C345C 1608 1720 5.69e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173057
SMART Domains Protein: ENSMUSP00000134611
Gene: ENSMUSG00000073418

DomainStartEndE-ValueType
Pfam:A2M 1 62 6.5e-20 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous C4 deficient mice have compromised immune responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G T 11: 72,191,597 (GRCm38) A301E possibly damaging Het
Cep85 A G 4: 134,167,387 (GRCm38) V36A probably damaging Het
Cnot10 A T 9: 114,622,930 (GRCm38) F259L probably damaging Het
Crim1 T C 17: 78,372,575 (GRCm38) probably benign Het
Crispld1 G A 1: 17,747,520 (GRCm38) A216T probably damaging Het
Cyp8b1 T C 9: 121,914,992 (GRCm38) I425V probably benign Het
Fat2 A T 11: 55,282,840 (GRCm38) V2349D probably damaging Het
Fer G T 17: 63,924,179 (GRCm38) probably null Het
Galnt3 T C 2: 66,095,926 (GRCm38) T313A probably damaging Het
Gm4450 T A 3: 98,456,419 (GRCm38) R37W probably damaging Het
Igkv10-94 A T 6: 68,704,944 (GRCm38) L12* probably null Het
Kcnj3 G A 2: 55,437,231 (GRCm38) D11N probably benign Het
Kit T A 5: 75,621,014 (GRCm38) S368T probably benign Het
Mark1 G A 1: 184,912,589 (GRCm38) S390L possibly damaging Het
Mpped1 C A 15: 83,800,156 (GRCm38) S126R probably damaging Het
Myh15 A C 16: 49,110,529 (GRCm38) probably benign Het
Nat1 G A 8: 67,491,226 (GRCm38) E85K probably benign Het
Olfr1500 T C 19: 13,828,063 (GRCm38) D111G possibly damaging Het
Pde3b A T 7: 114,519,617 (GRCm38) M664L possibly damaging Het
Phrf1 A G 7: 141,260,333 (GRCm38) D1147G probably benign Het
Pth1r G T 9: 110,742,308 (GRCm38) probably benign Het
Shank3 C T 15: 89,503,299 (GRCm38) probably benign Het
Slc39a7 A C 17: 34,031,121 (GRCm38) probably benign Het
Slc6a1 A G 6: 114,314,325 (GRCm38) T520A probably benign Het
St3gal2 C A 8: 110,970,172 (GRCm38) A317E probably damaging Het
St3gal3 C A 4: 117,960,039 (GRCm38) L139F possibly damaging Het
Sval3 T A 6: 41,972,842 (GRCm38) probably benign Het
Syvn1 G A 19: 6,052,407 (GRCm38) A502T probably benign Het
Tm4sf1 T C 3: 57,293,078 (GRCm38) I68V possibly damaging Het
Tnrc6a T A 7: 123,181,366 (GRCm38) N1326K possibly damaging Het
Tvp23b G A 11: 62,892,000 (GRCm38) C174Y probably damaging Het
Zfp750 T C 11: 121,512,149 (GRCm38) D591G probably benign Het
Other mutations in C4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:C4b APN 17 34,734,428 (GRCm38) missense probably damaging 1.00
IGL00433:C4b APN 17 34,742,041 (GRCm38) missense possibly damaging 0.75
IGL00471:C4b APN 17 34,734,429 (GRCm38) missense probably damaging 1.00
IGL00515:C4b APN 17 34,728,891 (GRCm38) missense probably damaging 1.00
IGL01599:C4b APN 17 34,743,019 (GRCm38) splice site probably benign
IGL01761:C4b APN 17 34,739,938 (GRCm38) missense possibly damaging 0.56
IGL02215:C4b APN 17 34,734,491 (GRCm38) missense probably damaging 1.00
IGL02517:C4b APN 17 34,734,408 (GRCm38) missense probably benign 0.01
IGL02926:C4b APN 17 34,730,712 (GRCm38) missense possibly damaging 0.95
IGL03031:C4b APN 17 34,731,130 (GRCm38) missense possibly damaging 0.47
IGL03057:C4b APN 17 34,737,764 (GRCm38) unclassified probably benign
IGL03165:C4b APN 17 34,739,955 (GRCm38) missense probably benign 0.13
IGL03380:C4b APN 17 34,740,286 (GRCm38) missense probably benign 0.01
Aspiration UTSW 17 34,734,442 (GRCm38) missense probably benign 0.00
Inspiration UTSW 17 34,732,166 (GRCm38) splice site probably null
Peroration UTSW 17 34,729,399 (GRCm38) critical splice donor site probably null
perspiration UTSW 17 34,729,831 (GRCm38) missense probably damaging 1.00
FR4548:C4b UTSW 17 34,740,997 (GRCm38) missense probably benign 0.00
PIT4142001:C4b UTSW 17 34,733,701 (GRCm38) missense probably benign 0.01
R0064:C4b UTSW 17 34,738,856 (GRCm38) missense probably damaging 1.00
R0113:C4b UTSW 17 34,741,240 (GRCm38) missense probably damaging 0.98
R0143:C4b UTSW 17 34,734,219 (GRCm38) unclassified probably benign
R0254:C4b UTSW 17 34,734,776 (GRCm38) missense probably benign 0.00
R0320:C4b UTSW 17 34,733,161 (GRCm38) missense probably benign 0.01
R0391:C4b UTSW 17 34,735,614 (GRCm38) splice site probably benign
R0399:C4b UTSW 17 34,728,869 (GRCm38) missense probably damaging 1.00
R0467:C4b UTSW 17 34,736,127 (GRCm38) missense probably benign 0.01
R0549:C4b UTSW 17 34,735,415 (GRCm38) missense probably damaging 1.00
R0561:C4b UTSW 17 34,734,417 (GRCm38) missense probably damaging 0.99
R0662:C4b UTSW 17 34,730,888 (GRCm38) missense probably damaging 1.00
R0941:C4b UTSW 17 34,740,055 (GRCm38) missense probably benign
R1161:C4b UTSW 17 34,729,593 (GRCm38) missense probably damaging 1.00
R1169:C4b UTSW 17 34,742,972 (GRCm38) missense probably benign 0.14
R1186:C4b UTSW 17 34,736,309 (GRCm38) missense possibly damaging 0.47
R1310:C4b UTSW 17 34,729,593 (GRCm38) missense probably damaging 1.00
R1398:C4b UTSW 17 34,730,719 (GRCm38) unclassified probably benign
R1472:C4b UTSW 17 34,743,769 (GRCm38) nonsense probably null
R1496:C4b UTSW 17 34,740,021 (GRCm38) missense probably benign 0.30
R1544:C4b UTSW 17 34,738,967 (GRCm38) missense probably benign 0.13
R1588:C4b UTSW 17 34,741,025 (GRCm38) missense probably benign
R1645:C4b UTSW 17 34,740,597 (GRCm38) missense probably damaging 1.00
R1664:C4b UTSW 17 34,732,978 (GRCm38) missense probably damaging 1.00
R1678:C4b UTSW 17 34,743,650 (GRCm38) missense probably benign 0.05
R1710:C4b UTSW 17 34,743,664 (GRCm38) splice site probably benign
R1713:C4b UTSW 17 34,729,271 (GRCm38) splice site probably benign
R1770:C4b UTSW 17 34,736,927 (GRCm38) missense possibly damaging 0.78
R1859:C4b UTSW 17 34,735,553 (GRCm38) missense probably benign
R1924:C4b UTSW 17 34,729,657 (GRCm38) missense probably damaging 1.00
R2057:C4b UTSW 17 34,728,620 (GRCm38) missense probably damaging 1.00
R2060:C4b UTSW 17 34,736,101 (GRCm38) missense probably damaging 1.00
R2184:C4b UTSW 17 34,737,702 (GRCm38) missense probably benign 0.27
R2306:C4b UTSW 17 34,728,518 (GRCm38) missense probably benign 0.00
R2363:C4b UTSW 17 34,736,058 (GRCm38) splice site probably benign
R2365:C4b UTSW 17 34,736,058 (GRCm38) splice site probably benign
R2379:C4b UTSW 17 34,735,743 (GRCm38) missense possibly damaging 0.81
R2860:C4b UTSW 17 34,734,758 (GRCm38) missense probably damaging 0.99
R2861:C4b UTSW 17 34,734,758 (GRCm38) missense probably damaging 0.99
R3551:C4b UTSW 17 34,741,872 (GRCm38) missense possibly damaging 0.75
R3765:C4b UTSW 17 34,729,840 (GRCm38) missense probably damaging 0.98
R4157:C4b UTSW 17 34,742,855 (GRCm38) missense probably damaging 1.00
R4299:C4b UTSW 17 34,731,144 (GRCm38) missense possibly damaging 0.52
R4365:C4b UTSW 17 34,734,743 (GRCm38) missense possibly damaging 0.65
R4411:C4b UTSW 17 34,728,864 (GRCm38) missense probably damaging 1.00
R4613:C4b UTSW 17 34,734,551 (GRCm38) missense probably benign 0.12
R4784:C4b UTSW 17 34,733,406 (GRCm38) missense probably benign 0.00
R4790:C4b UTSW 17 34,734,143 (GRCm38) missense probably benign 0.01
R4831:C4b UTSW 17 34,736,890 (GRCm38) splice site probably null
R4879:C4b UTSW 17 34,743,647 (GRCm38) missense probably damaging 0.99
R5036:C4b UTSW 17 34,740,445 (GRCm38) critical splice acceptor site probably null
R5361:C4b UTSW 17 34,741,238 (GRCm38) missense probably benign 0.15
R5384:C4b UTSW 17 34,737,661 (GRCm38) missense possibly damaging 0.89
R5518:C4b UTSW 17 34,734,442 (GRCm38) missense probably benign 0.00
R5590:C4b UTSW 17 34,740,335 (GRCm38) missense probably damaging 0.98
R5643:C4b UTSW 17 34,742,417 (GRCm38) missense probably benign 0.01
R5644:C4b UTSW 17 34,742,417 (GRCm38) missense probably benign 0.01
R5833:C4b UTSW 17 34,730,673 (GRCm38) missense probably damaging 1.00
R5931:C4b UTSW 17 34,729,193 (GRCm38) missense probably damaging 0.99
R6178:C4b UTSW 17 34,733,406 (GRCm38) missense probably benign 0.00
R6209:C4b UTSW 17 34,741,087 (GRCm38) missense possibly damaging 0.93
R6225:C4b UTSW 17 34,738,874 (GRCm38) missense possibly damaging 0.64
R6518:C4b UTSW 17 34,734,205 (GRCm38) missense probably damaging 0.98
R6613:C4b UTSW 17 34,733,565 (GRCm38) missense probably damaging 0.99
R6781:C4b UTSW 17 34,742,954 (GRCm38) missense probably damaging 0.99
R6807:C4b UTSW 17 34,730,956 (GRCm38) missense probably benign 0.17
R6858:C4b UTSW 17 34,729,831 (GRCm38) missense probably damaging 1.00
R6962:C4b UTSW 17 34,732,166 (GRCm38) splice site probably null
R7068:C4b UTSW 17 34,733,477 (GRCm38) missense probably damaging 1.00
R7081:C4b UTSW 17 34,735,443 (GRCm38) missense probably benign 0.27
R7105:C4b UTSW 17 34,730,911 (GRCm38) missense possibly damaging 0.52
R7211:C4b UTSW 17 34,735,534 (GRCm38) missense possibly damaging 0.92
R7296:C4b UTSW 17 34,743,659 (GRCm38) missense probably damaging 1.00
R7314:C4b UTSW 17 34,740,356 (GRCm38) missense probably benign
R7330:C4b UTSW 17 34,730,472 (GRCm38) missense probably damaging 1.00
R7397:C4b UTSW 17 34,742,390 (GRCm38) missense possibly damaging 0.80
R7437:C4b UTSW 17 34,734,733 (GRCm38) missense probably benign 0.10
R7490:C4b UTSW 17 34,731,080 (GRCm38) nonsense probably null
R7597:C4b UTSW 17 34,739,675 (GRCm38) missense probably benign
R7633:C4b UTSW 17 34,729,399 (GRCm38) critical splice donor site probably null
R7900:C4b UTSW 17 34,739,777 (GRCm38) missense probably benign 0.03
R7910:C4b UTSW 17 34,740,352 (GRCm38) missense probably benign 0.00
R7923:C4b UTSW 17 34,742,380 (GRCm38) missense probably damaging 1.00
R7960:C4b UTSW 17 34,741,278 (GRCm38) splice site probably null
R8420:C4b UTSW 17 34,734,539 (GRCm38) missense probably damaging 0.97
R8467:C4b UTSW 17 34,732,813 (GRCm38) missense possibly damaging 0.51
R8558:C4b UTSW 17 34,736,567 (GRCm38) missense probably damaging 1.00
R8725:C4b UTSW 17 34,734,485 (GRCm38) missense probably damaging 1.00
R8727:C4b UTSW 17 34,734,485 (GRCm38) missense probably damaging 1.00
R8853:C4b UTSW 17 34,729,905 (GRCm38) missense possibly damaging 0.91
R8934:C4b UTSW 17 34,732,984 (GRCm38) missense possibly damaging 0.78
R8944:C4b UTSW 17 34,742,939 (GRCm38) missense probably benign 0.00
R8960:C4b UTSW 17 34,733,918 (GRCm38) missense probably damaging 1.00
R8982:C4b UTSW 17 34,734,364 (GRCm38) critical splice donor site probably null
R9104:C4b UTSW 17 34,729,259 (GRCm38) missense probably benign 0.39
R9114:C4b UTSW 17 34,729,430 (GRCm38) missense probably damaging 0.99
R9348:C4b UTSW 17 34,733,185 (GRCm38) missense probably benign 0.01
R9428:C4b UTSW 17 34,730,911 (GRCm38) missense possibly damaging 0.52
R9533:C4b UTSW 17 34,737,724 (GRCm38) nonsense probably null
R9591:C4b UTSW 17 34,738,955 (GRCm38) missense probably benign 0.00
R9678:C4b UTSW 17 34,741,789 (GRCm38) critical splice donor site probably null
Z1176:C4b UTSW 17 34,731,147 (GRCm38) missense probably damaging 0.97
Posted On 2014-05-07