Incidental Mutation 'R0143:C4b'
ID 22469
Institutional Source Beutler Lab
Gene Symbol C4b
Ensembl Gene ENSMUSG00000073418
Gene Name complement C4B (Chido blood group)
Synonyms Ss, C4
MMRRC Submission 038428-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0143 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34947354-34962856 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 34953193 bp (GRCm39)
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173669
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (76/78)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,988,288 (GRCm39) I145N probably benign Het
Ankrd1 G A 19: 36,096,713 (GRCm39) A38V probably benign Het
Ankrd34b A G 13: 92,576,268 (GRCm39) E500G probably damaging Het
Arhgef12 T C 9: 42,916,890 (GRCm39) T419A probably damaging Het
B3galt2 A T 1: 143,523,072 (GRCm39) N403Y possibly damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Cacna1e A T 1: 154,324,693 (GRCm39) probably null Het
Cdh3 T C 8: 107,237,857 (GRCm39) V17A probably benign Het
Cog7 A T 7: 121,550,387 (GRCm39) L379Q probably damaging Het
Cul9 T C 17: 46,837,336 (GRCm39) N1044S possibly damaging Het
Cyp4b1 C T 4: 115,493,071 (GRCm39) D258N probably damaging Het
Ddx39a T C 8: 84,447,179 (GRCm39) V113A probably benign Het
Dennd4b A T 3: 90,179,671 (GRCm39) H643L probably damaging Het
Dpy19l3 T C 7: 35,413,640 (GRCm39) T334A probably benign Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Dtx4 G A 19: 12,463,846 (GRCm39) T312I probably damaging Het
Dusp18 C T 11: 3,847,243 (GRCm39) R78C probably benign Het
Fes A C 7: 80,033,643 (GRCm39) F203V probably benign Het
Fhad1 C A 4: 141,656,957 (GRCm39) probably benign Het
Gjb2 T C 14: 57,337,526 (GRCm39) silent Het
Gm5828 T C 1: 16,838,579 (GRCm39) noncoding transcript Het
Gsdma A C 11: 98,557,080 (GRCm39) E65A probably damaging Het
Hck T A 2: 152,976,140 (GRCm39) probably null Het
Henmt1 A T 3: 108,861,118 (GRCm39) H47L probably damaging Het
Hivep2 T C 10: 14,005,099 (GRCm39) F566L probably damaging Het
Hnrnpl T C 7: 28,513,617 (GRCm39) probably benign Het
Igsf3 T C 3: 101,342,917 (GRCm39) I518T probably damaging Het
Ireb2 T C 9: 54,793,193 (GRCm39) F223L probably benign Het
Isoc2a T C 7: 4,894,331 (GRCm39) probably null Het
Krt73 T A 15: 101,709,208 (GRCm39) R200W probably damaging Het
Lgals9 T A 11: 78,854,361 (GRCm39) I308F probably damaging Het
Lrp1 A G 10: 127,429,811 (GRCm39) F420L probably damaging Het
Mep1b T C 18: 21,228,164 (GRCm39) probably benign Het
Mex3a G T 3: 88,443,562 (GRCm39) A213S probably benign Het
Mmp13 T C 9: 7,276,558 (GRCm39) F218L probably damaging Het
Ncf1 G T 5: 134,255,991 (GRCm39) probably benign Het
Notch2 A G 3: 98,053,433 (GRCm39) D2032G probably damaging Het
Or10h28 T C 17: 33,488,471 (GRCm39) S258P probably damaging Het
Or5p1 A G 7: 107,916,202 (GRCm39) I34V probably benign Het
Or9i1b A C 19: 13,896,614 (GRCm39) I77L probably damaging Het
Pex16 G A 2: 92,210,802 (GRCm39) G312D probably damaging Het
Pex5 A T 6: 124,375,448 (GRCm39) W525R probably damaging Het
Plcb4 T A 2: 135,818,131 (GRCm39) I799N probably damaging Het
Poldip3 G A 15: 83,012,144 (GRCm39) L372F probably damaging Het
Polg2 C A 11: 106,668,352 (GRCm39) V174L probably benign Het
Prrt4 C G 6: 29,170,670 (GRCm39) G594A probably damaging Het
Prss1 A G 6: 41,440,522 (GRCm39) D199G probably damaging Het
Rbms2 T A 10: 127,973,823 (GRCm39) Q207L probably benign Het
Retreg2 A G 1: 75,123,074 (GRCm39) D334G possibly damaging Het
Slc6a15 T G 10: 103,253,929 (GRCm39) C622G probably benign Het
Spdya T A 17: 71,865,635 (GRCm39) D84E probably damaging Het
Stat3 A T 11: 100,785,982 (GRCm39) S432T possibly damaging Het
Tiam1 A T 16: 89,695,088 (GRCm39) V123E probably benign Het
Tnpo3 A G 6: 29,565,651 (GRCm39) probably benign Het
Tnrc6c A C 11: 117,643,811 (GRCm39) N1481H probably damaging Het
Top3b T C 16: 16,701,389 (GRCm39) S234P probably damaging Het
Tor1aip2 A T 1: 155,935,294 (GRCm39) T10S probably benign Het
Tpsab1 T A 17: 25,562,418 (GRCm39) H303L probably benign Het
Traf3 T A 12: 111,228,010 (GRCm39) V407D probably damaging Het
Trim33 T A 3: 103,259,417 (GRCm39) D1035E probably benign Het
Ttc38 T C 15: 85,737,920 (GRCm39) V402A possibly damaging Het
Ube4b C T 4: 149,439,914 (GRCm39) R646H possibly damaging Het
Usp8 C A 2: 126,597,009 (GRCm39) probably benign Het
Zdbf2 A T 1: 63,347,233 (GRCm39) I1871F probably benign Het
Zfp345 T A 2: 150,314,475 (GRCm39) Q354L probably benign Het
Zfp462 C A 4: 55,023,402 (GRCm39) probably benign Het
Zfp81 G A 17: 33,554,095 (GRCm39) H240Y possibly damaging Het
Zfp830 A G 11: 82,655,994 (GRCm39) D266G possibly damaging Het
Other mutations in C4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:C4b APN 17 34,953,402 (GRCm39) missense probably damaging 1.00
IGL00433:C4b APN 17 34,961,015 (GRCm39) missense possibly damaging 0.75
IGL00471:C4b APN 17 34,953,403 (GRCm39) missense probably damaging 1.00
IGL00515:C4b APN 17 34,947,865 (GRCm39) missense probably damaging 1.00
IGL01599:C4b APN 17 34,961,993 (GRCm39) splice site probably benign
IGL01761:C4b APN 17 34,958,912 (GRCm39) missense possibly damaging 0.56
IGL02004:C4b APN 17 34,957,984 (GRCm39) unclassified probably benign
IGL02215:C4b APN 17 34,953,465 (GRCm39) missense probably damaging 1.00
IGL02517:C4b APN 17 34,953,382 (GRCm39) missense probably benign 0.01
IGL02926:C4b APN 17 34,949,686 (GRCm39) missense possibly damaging 0.95
IGL03031:C4b APN 17 34,950,104 (GRCm39) missense possibly damaging 0.47
IGL03057:C4b APN 17 34,956,738 (GRCm39) unclassified probably benign
IGL03165:C4b APN 17 34,958,929 (GRCm39) missense probably benign 0.13
IGL03380:C4b APN 17 34,959,260 (GRCm39) missense probably benign 0.01
Aspiration UTSW 17 34,953,416 (GRCm39) missense probably benign 0.00
Inspiration UTSW 17 34,951,140 (GRCm39) splice site probably null
Peroration UTSW 17 34,948,373 (GRCm39) critical splice donor site probably null
perspiration UTSW 17 34,948,805 (GRCm39) missense probably damaging 1.00
FR4548:C4b UTSW 17 34,959,971 (GRCm39) missense probably benign 0.00
PIT4142001:C4b UTSW 17 34,952,675 (GRCm39) missense probably benign 0.01
R0064:C4b UTSW 17 34,957,830 (GRCm39) missense probably damaging 1.00
R0113:C4b UTSW 17 34,960,214 (GRCm39) missense probably damaging 0.98
R0254:C4b UTSW 17 34,953,750 (GRCm39) missense probably benign 0.00
R0320:C4b UTSW 17 34,952,135 (GRCm39) missense probably benign 0.01
R0391:C4b UTSW 17 34,954,588 (GRCm39) splice site probably benign
R0399:C4b UTSW 17 34,947,843 (GRCm39) missense probably damaging 1.00
R0467:C4b UTSW 17 34,955,101 (GRCm39) missense probably benign 0.01
R0549:C4b UTSW 17 34,954,389 (GRCm39) missense probably damaging 1.00
R0561:C4b UTSW 17 34,953,391 (GRCm39) missense probably damaging 0.99
R0662:C4b UTSW 17 34,949,862 (GRCm39) missense probably damaging 1.00
R0941:C4b UTSW 17 34,959,029 (GRCm39) missense probably benign
R1161:C4b UTSW 17 34,948,567 (GRCm39) missense probably damaging 1.00
R1169:C4b UTSW 17 34,961,946 (GRCm39) missense probably benign 0.14
R1186:C4b UTSW 17 34,955,283 (GRCm39) missense possibly damaging 0.47
R1310:C4b UTSW 17 34,948,567 (GRCm39) missense probably damaging 1.00
R1398:C4b UTSW 17 34,949,693 (GRCm39) unclassified probably benign
R1472:C4b UTSW 17 34,962,743 (GRCm39) nonsense probably null
R1496:C4b UTSW 17 34,958,995 (GRCm39) missense probably benign 0.30
R1544:C4b UTSW 17 34,957,941 (GRCm39) missense probably benign 0.13
R1588:C4b UTSW 17 34,959,999 (GRCm39) missense probably benign
R1645:C4b UTSW 17 34,959,571 (GRCm39) missense probably damaging 1.00
R1664:C4b UTSW 17 34,951,952 (GRCm39) missense probably damaging 1.00
R1678:C4b UTSW 17 34,962,624 (GRCm39) missense probably benign 0.05
R1710:C4b UTSW 17 34,962,638 (GRCm39) splice site probably benign
R1713:C4b UTSW 17 34,948,245 (GRCm39) splice site probably benign
R1770:C4b UTSW 17 34,955,901 (GRCm39) missense possibly damaging 0.78
R1859:C4b UTSW 17 34,954,527 (GRCm39) missense probably benign
R1924:C4b UTSW 17 34,948,631 (GRCm39) missense probably damaging 1.00
R2057:C4b UTSW 17 34,947,594 (GRCm39) missense probably damaging 1.00
R2060:C4b UTSW 17 34,955,075 (GRCm39) missense probably damaging 1.00
R2184:C4b UTSW 17 34,956,676 (GRCm39) missense probably benign 0.27
R2306:C4b UTSW 17 34,947,492 (GRCm39) missense probably benign 0.00
R2363:C4b UTSW 17 34,955,032 (GRCm39) splice site probably benign
R2365:C4b UTSW 17 34,955,032 (GRCm39) splice site probably benign
R2379:C4b UTSW 17 34,954,717 (GRCm39) missense possibly damaging 0.81
R2860:C4b UTSW 17 34,953,732 (GRCm39) missense probably damaging 0.99
R2861:C4b UTSW 17 34,953,732 (GRCm39) missense probably damaging 0.99
R3551:C4b UTSW 17 34,960,846 (GRCm39) missense possibly damaging 0.75
R3765:C4b UTSW 17 34,948,814 (GRCm39) missense probably damaging 0.98
R4157:C4b UTSW 17 34,961,829 (GRCm39) missense probably damaging 1.00
R4299:C4b UTSW 17 34,950,118 (GRCm39) missense possibly damaging 0.52
R4365:C4b UTSW 17 34,953,717 (GRCm39) missense possibly damaging 0.65
R4411:C4b UTSW 17 34,947,838 (GRCm39) missense probably damaging 1.00
R4613:C4b UTSW 17 34,953,525 (GRCm39) missense probably benign 0.12
R4784:C4b UTSW 17 34,952,380 (GRCm39) missense probably benign 0.00
R4790:C4b UTSW 17 34,953,117 (GRCm39) missense probably benign 0.01
R4831:C4b UTSW 17 34,955,864 (GRCm39) splice site probably null
R4879:C4b UTSW 17 34,962,621 (GRCm39) missense probably damaging 0.99
R5036:C4b UTSW 17 34,959,419 (GRCm39) critical splice acceptor site probably null
R5361:C4b UTSW 17 34,960,212 (GRCm39) missense probably benign 0.15
R5384:C4b UTSW 17 34,956,635 (GRCm39) missense possibly damaging 0.89
R5518:C4b UTSW 17 34,953,416 (GRCm39) missense probably benign 0.00
R5590:C4b UTSW 17 34,959,309 (GRCm39) missense probably damaging 0.98
R5643:C4b UTSW 17 34,961,391 (GRCm39) missense probably benign 0.01
R5644:C4b UTSW 17 34,961,391 (GRCm39) missense probably benign 0.01
R5833:C4b UTSW 17 34,949,647 (GRCm39) missense probably damaging 1.00
R5931:C4b UTSW 17 34,948,167 (GRCm39) missense probably damaging 0.99
R6178:C4b UTSW 17 34,952,380 (GRCm39) missense probably benign 0.00
R6209:C4b UTSW 17 34,960,061 (GRCm39) missense possibly damaging 0.93
R6225:C4b UTSW 17 34,957,848 (GRCm39) missense possibly damaging 0.64
R6518:C4b UTSW 17 34,953,179 (GRCm39) missense probably damaging 0.98
R6613:C4b UTSW 17 34,952,539 (GRCm39) missense probably damaging 0.99
R6781:C4b UTSW 17 34,961,928 (GRCm39) missense probably damaging 0.99
R6807:C4b UTSW 17 34,949,930 (GRCm39) missense probably benign 0.17
R6858:C4b UTSW 17 34,948,805 (GRCm39) missense probably damaging 1.00
R6962:C4b UTSW 17 34,951,140 (GRCm39) splice site probably null
R7068:C4b UTSW 17 34,952,451 (GRCm39) missense probably damaging 1.00
R7081:C4b UTSW 17 34,954,417 (GRCm39) missense probably benign 0.27
R7105:C4b UTSW 17 34,949,885 (GRCm39) missense possibly damaging 0.52
R7211:C4b UTSW 17 34,954,508 (GRCm39) missense possibly damaging 0.92
R7296:C4b UTSW 17 34,962,633 (GRCm39) missense probably damaging 1.00
R7314:C4b UTSW 17 34,959,330 (GRCm39) missense probably benign
R7330:C4b UTSW 17 34,949,446 (GRCm39) missense probably damaging 1.00
R7397:C4b UTSW 17 34,961,364 (GRCm39) missense possibly damaging 0.80
R7437:C4b UTSW 17 34,953,707 (GRCm39) missense probably benign 0.10
R7490:C4b UTSW 17 34,950,054 (GRCm39) nonsense probably null
R7597:C4b UTSW 17 34,958,649 (GRCm39) missense probably benign
R7633:C4b UTSW 17 34,948,373 (GRCm39) critical splice donor site probably null
R7900:C4b UTSW 17 34,958,751 (GRCm39) missense probably benign 0.03
R7910:C4b UTSW 17 34,959,326 (GRCm39) missense probably benign 0.00
R7923:C4b UTSW 17 34,961,354 (GRCm39) missense probably damaging 1.00
R7960:C4b UTSW 17 34,960,252 (GRCm39) splice site probably null
R8420:C4b UTSW 17 34,953,513 (GRCm39) missense probably damaging 0.97
R8467:C4b UTSW 17 34,951,787 (GRCm39) missense possibly damaging 0.51
R8558:C4b UTSW 17 34,955,541 (GRCm39) missense probably damaging 1.00
R8725:C4b UTSW 17 34,953,459 (GRCm39) missense probably damaging 1.00
R8727:C4b UTSW 17 34,953,459 (GRCm39) missense probably damaging 1.00
R8853:C4b UTSW 17 34,948,879 (GRCm39) missense possibly damaging 0.91
R8934:C4b UTSW 17 34,951,958 (GRCm39) missense possibly damaging 0.78
R8944:C4b UTSW 17 34,961,913 (GRCm39) missense probably benign 0.00
R8960:C4b UTSW 17 34,952,892 (GRCm39) missense probably damaging 1.00
R8982:C4b UTSW 17 34,953,338 (GRCm39) critical splice donor site probably null
R9104:C4b UTSW 17 34,948,233 (GRCm39) missense probably benign 0.39
R9114:C4b UTSW 17 34,948,404 (GRCm39) missense probably damaging 0.99
R9348:C4b UTSW 17 34,952,159 (GRCm39) missense probably benign 0.01
R9428:C4b UTSW 17 34,949,885 (GRCm39) missense possibly damaging 0.52
R9533:C4b UTSW 17 34,956,698 (GRCm39) nonsense probably null
R9591:C4b UTSW 17 34,957,929 (GRCm39) missense probably benign 0.00
R9678:C4b UTSW 17 34,960,763 (GRCm39) critical splice donor site probably null
Z1176:C4b UTSW 17 34,950,121 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GGGCCAAACTCAGAATCTTCAGCAC -3'
(R):5'- TGGAGCAAACTGTCCCCTGAAAC -3'

Sequencing Primer
(F):5'- TCTTCAGCACGAAGGCAGTC -3'
(R):5'- CTGAAACAAAGGACCATGCTGTG -3'
Posted On 2013-04-16