Incidental Mutation 'R1544:C4b'
ID 172075
Institutional Source Beutler Lab
Gene Symbol C4b
Ensembl Gene ENSMUSG00000073418
Gene Name complement C4B (Chido blood group)
Synonyms Ss, C4
MMRRC Submission 039583-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1544 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34947354-34962856 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34957941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 580 (R580L)
Ref Sequence ENSEMBL: ENSMUSP00000069418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069507]
AlphaFold P01029
Predicted Effect probably benign
Transcript: ENSMUST00000069507
AA Change: R580L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: R580L

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
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 86.9%
Validation Efficiency 99% (114/115)
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: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,147,543 (GRCm39) I182T possibly damaging Het
4933406P04Rik A G 10: 20,187,105 (GRCm39) probably benign Het
A730018C14Rik A G 12: 112,381,924 (GRCm39) noncoding transcript Het
Aacs A T 5: 125,593,394 (GRCm39) I666F possibly damaging Het
Abcb9 C T 5: 124,221,694 (GRCm39) V227I probably benign Het
Abcd3 T C 3: 121,578,122 (GRCm39) Q168R probably benign Het
Adamts4 A G 1: 171,080,311 (GRCm39) Q288R probably benign Het
Atad2 G A 15: 57,966,760 (GRCm39) A611V probably damaging Het
Aup1 T C 6: 83,032,187 (GRCm39) V118A possibly damaging Het
Bend7 T A 2: 4,768,122 (GRCm39) probably benign Het
Brd4 A G 17: 32,417,646 (GRCm39) probably benign Het
Cct8 G T 16: 87,288,342 (GRCm39) probably benign Het
Cfhr4 A T 1: 139,664,608 (GRCm39) C484S probably damaging Het
Cilp T C 9: 65,183,127 (GRCm39) Y344H probably benign Het
Clic6 A T 16: 92,288,961 (GRCm39) probably benign Het
Colgalt2 T C 1: 152,360,703 (GRCm39) S247P probably damaging Het
Csf2rb G T 15: 78,224,955 (GRCm39) A212S probably benign Het
Csmd3 A C 15: 47,475,294 (GRCm39) probably null Het
Cyp26c1 A G 19: 37,679,393 (GRCm39) D366G probably benign Het
Dhx33 A G 11: 70,890,354 (GRCm39) S222P probably damaging Het
Dhx40 T A 11: 86,697,379 (GRCm39) I63F possibly damaging Het
Dipk2b A C X: 18,286,701 (GRCm39) L285V possibly damaging Het
Dlgap2 T A 8: 14,879,861 (GRCm39) probably null Het
Dnah7b T A 1: 46,105,957 (GRCm39) D20E unknown Het
Dnase2b C A 3: 146,290,312 (GRCm39) A220S probably benign Het
Dock10 T C 1: 80,570,352 (GRCm39) E362G probably benign Het
Ect2l C T 10: 18,044,182 (GRCm39) V226I probably benign Het
Epha10 C A 4: 124,779,389 (GRCm39) N78K probably damaging Het
Epha3 A G 16: 63,593,416 (GRCm39) V224A probably damaging Het
Fcgr4 C A 1: 170,847,523 (GRCm39) D40E probably damaging Het
Fer1l4 T C 2: 155,887,553 (GRCm39) M548V probably benign Het
Flii C T 11: 60,610,518 (GRCm39) probably null Het
Flnc A T 6: 29,444,079 (GRCm39) Y631F probably benign Het
Gm6871 A C 7: 41,195,514 (GRCm39) probably null Het
Gtf2ird1 A T 5: 134,387,772 (GRCm39) S1028T possibly damaging Het
Hycc1 A T 5: 24,170,139 (GRCm39) D403E probably benign Het
Hydin A G 8: 111,301,486 (GRCm39) H3739R probably benign Het
Iqcg A T 16: 32,865,895 (GRCm39) N149K probably benign Het
Iqgap3 A G 3: 88,006,200 (GRCm39) D537G probably benign Het
Itih2 T G 2: 10,110,025 (GRCm39) D576A probably benign Het
Kcmf1 T C 6: 72,825,212 (GRCm39) T243A probably benign Het
Kif1a A G 1: 93,002,670 (GRCm39) probably benign Het
Klf10 C T 15: 38,297,030 (GRCm39) G337S probably damaging Het
Krt31 T C 11: 99,938,699 (GRCm39) N298S possibly damaging Het
Lmnb1 A G 18: 56,882,823 (GRCm39) E556G probably benign Het
Mael A T 1: 166,029,859 (GRCm39) S354T probably benign Het
Mast3 T C 8: 71,238,816 (GRCm39) D496G probably damaging Het
Med12l A G 3: 59,172,661 (GRCm39) T1806A possibly damaging Het
Mms19 A G 19: 41,944,260 (GRCm39) probably null Het
Moap1 A T 12: 102,709,504 (GRCm39) M15K possibly damaging Het
Mpv17l G T 16: 13,764,683 (GRCm39) W70L probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myo7b T C 18: 32,127,962 (GRCm39) I577V probably benign Het
Myo9b T A 8: 71,743,620 (GRCm39) L227Q probably damaging Het
Myom2 T C 8: 15,154,059 (GRCm39) probably benign Het
Naip6 C A 13: 100,452,983 (GRCm39) R26L probably benign Het
Nbea T C 3: 55,966,248 (GRCm39) T405A probably damaging Het
Nrp2 T A 1: 62,802,063 (GRCm39) I502N probably damaging Het
Nt5el A T 13: 105,246,129 (GRCm39) H230L probably benign Het
Nufip2 G A 11: 77,582,733 (GRCm39) E216K possibly damaging Het
Oaf A G 9: 43,133,930 (GRCm39) Y264H probably damaging Het
Or51a42 A G 7: 103,708,431 (GRCm39) V126A probably damaging Het
Or5m10 T C 2: 85,717,615 (GRCm39) L157P probably damaging Het
Or6c217 A T 10: 129,738,293 (GRCm39) C95* probably null Het
Pax1 T C 2: 147,210,321 (GRCm39) V352A probably damaging Het
Pkd1l2 TGGG TGG 8: 117,764,974 (GRCm39) probably null Het
Plxna3 G A X: 73,383,772 (GRCm39) probably null Het
Pnpla3 T C 15: 84,065,247 (GRCm39) V347A probably benign Het
Ppl T A 16: 4,920,461 (GRCm39) K350* probably null Het
Pramel28 T C 4: 143,692,632 (GRCm39) D123G probably benign Het
Prb1a T A 6: 132,186,424 (GRCm39) probably null Het
Prb1a C A 6: 132,186,423 (GRCm39) probably null Het
Ptpn11 G A 5: 121,275,574 (GRCm39) H540Y probably benign Het
Ptprz1 C A 6: 23,000,747 (GRCm39) H946N possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rad51b A G 12: 79,349,317 (GRCm39) E51G possibly damaging Het
Rin2 T C 2: 145,700,366 (GRCm39) V181A probably damaging Het
Rnf157 T A 11: 116,245,188 (GRCm39) probably null Het
Rnf207 A G 4: 152,398,328 (GRCm39) probably benign Het
Ror1 A T 4: 100,299,183 (GRCm39) K852M probably damaging Het
Sbp T A 17: 24,164,043 (GRCm39) I102K probably benign Het
Scaf8 T C 17: 3,195,429 (GRCm39) I33T probably damaging Het
Scn5a C T 9: 119,315,699 (GRCm39) V1670I probably damaging Het
Serhl C T 15: 82,989,877 (GRCm39) T42M probably damaging Het
Sin3a A G 9: 57,011,281 (GRCm39) probably benign Het
Slc12a2 A G 18: 58,012,374 (GRCm39) S166G probably benign Het
Slc15a4 G A 5: 127,680,832 (GRCm39) H396Y probably benign Het
Slc2a7 A T 4: 150,239,143 (GRCm39) N123Y probably damaging Het
Smpd3 G A 8: 106,992,199 (GRCm39) T118M possibly damaging Het
Spns2 A T 11: 72,347,193 (GRCm39) I427N probably benign Het
Ssmem1 T A 6: 30,519,650 (GRCm39) S112T probably damaging Het
Stard10 A T 7: 100,993,233 (GRCm39) D190V probably damaging Het
Stil A T 4: 114,881,049 (GRCm39) K531M probably damaging Het
Strc T C 2: 121,203,219 (GRCm39) probably null Het
Svil T A 18: 5,046,817 (GRCm39) I21N possibly damaging Het
Syt11 T C 3: 88,656,110 (GRCm39) M14V probably benign Het
Tasor2 A T 13: 3,640,413 (GRCm39) H241Q possibly damaging Het
Tg A T 15: 66,577,081 (GRCm39) Q1468L probably benign Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmprss11d A C 5: 86,486,658 (GRCm39) S77R probably damaging Het
Tsnaxip1 A G 8: 106,554,383 (GRCm39) probably benign Het
Tyr C A 7: 87,141,914 (GRCm39) L138F probably damaging Het
Ubash3b A G 9: 40,927,901 (GRCm39) V469A probably damaging Het
Ugt8a T C 3: 125,709,098 (GRCm39) Y4C probably benign Het
Vmn1r201 A T 13: 22,658,968 (GRCm39) T61S probably benign Het
Vmn1r204 A G 13: 22,740,465 (GRCm39) H32R probably benign Het
Vmn1r228 T A 17: 20,997,285 (GRCm39) I78L probably benign Het
Wdr90 T C 17: 26,068,284 (GRCm39) D1348G possibly damaging Het
Zfp563 T A 17: 33,324,187 (GRCm39) C261S probably benign Het
Zfp809 T A 9: 22,146,395 (GRCm39) L28Q probably damaging Het
Znrf3 T A 11: 5,239,066 (GRCm39) Q99L probably 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
R0143:C4b UTSW 17 34,953,193 (GRCm39) unclassified probably benign
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
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
Posted On 2014-04-13