Incidental Mutation 'R4093:Hc'
ID 317706
Institutional Source Beutler Lab
Gene Symbol Hc
Ensembl Gene ENSMUSG00000026874
Gene Name hemolytic complement
Synonyms C5, Hfib2, He, C5a
MMRRC Submission 041627-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.492) question?
Stock # R4093 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 34873343-34951450 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 34873819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 158 (Y158*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028233]
AlphaFold P06684
Predicted Effect probably null
Transcript: ENSMUST00000028233
AA Change: Y1638*
SMART Domains Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: Y1638*

DomainStartEndE-ValueType
Pfam:A2M_N 125 219 1.8e-15 PFAM
A2M_N_2 465 612 9.83e-34 SMART
ANATO 702 736 4.73e-12 SMART
A2M 776 863 2.44e-29 SMART
Pfam:A2M_comp 1055 1306 2.3e-68 PFAM
A2M_recep 1423 1513 7.29e-28 SMART
C345C 1553 1665 1.51e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000156412
AA Change: Y158*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 92% (69/75)
MGI Phenotype FUNCTION: This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mice with a homozygous mutation in this gene exhibit impaired bone fracture healing and an enhanced inflammatory response in an allergic lung disease model. [provided by RefSeq, Nov 2015]
PHENOTYPE: Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5.

The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.

[provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,093,996 (GRCm39) M2173V probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Angpt1 T C 15: 42,386,941 (GRCm39) T138A probably damaging Het
Atp2c2 G A 8: 120,476,610 (GRCm39) probably null Het
Cadm2 A G 16: 66,581,675 (GRCm39) V210A possibly damaging Het
Cfap70 A T 14: 20,459,181 (GRCm39) D671E probably damaging Het
Chd2 C T 7: 73,150,764 (GRCm39) E322K possibly damaging Het
Chrnd C T 1: 87,118,729 (GRCm39) Q29* probably null Het
Cip2a T C 16: 48,821,339 (GRCm39) probably benign Het
Cym A G 3: 107,121,582 (GRCm39) S237P probably benign Het
D030068K23Rik A G 8: 109,978,091 (GRCm39) noncoding transcript Het
Gsdma2 T A 11: 98,541,677 (GRCm39) S135T probably benign Het
Hoxb3 C A 11: 96,236,926 (GRCm39) H335N probably damaging Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Ighv1-19 G A 12: 114,672,350 (GRCm39) T90I probably damaging Het
Kansl3 C A 1: 36,384,035 (GRCm39) S729I probably damaging Het
Kcnab1 T C 3: 65,207,035 (GRCm39) I137T possibly damaging Het
Kcnt1 A T 2: 25,767,927 (GRCm39) E12V probably damaging Het
Klk15 A T 7: 43,588,204 (GRCm39) S171C possibly damaging Het
Lcn2 A T 2: 32,277,728 (GRCm39) M1K probably null Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp8 T A 4: 107,700,468 (GRCm39) C135* probably null Het
Lrrc31 C A 3: 30,749,671 (GRCm39) S54I probably damaging Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Med27 G A 2: 29,267,920 (GRCm39) probably benign Het
Mical1 T C 10: 41,362,933 (GRCm39) probably benign Het
Myt1 A T 2: 181,453,191 (GRCm39) M799L probably damaging Het
Nlrc4 T C 17: 74,752,953 (GRCm39) M477V probably benign Het
Npy4r T C 14: 33,869,098 (GRCm39) I63M probably benign Het
Or2t43 A T 11: 58,457,655 (GRCm39) I172N probably damaging Het
Or52e15 C T 7: 104,645,842 (GRCm39) G90S probably benign Het
Or8b1b T A 9: 38,375,379 (GRCm39) L14Q probably null Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Piezo1 A C 8: 123,227,899 (GRCm39) probably null Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Proser1 T C 3: 53,387,133 (GRCm39) probably null Het
Psme2 A T 14: 55,825,734 (GRCm39) N143K probably benign Het
Pygo2 C A 3: 89,340,571 (GRCm39) P323Q probably damaging Het
Rab11b T C 17: 33,968,763 (GRCm39) T77A possibly damaging Het
Recql5 A G 11: 115,795,714 (GRCm39) S190P probably benign Het
Serpina12 A G 12: 104,004,183 (GRCm39) F150L probably damaging Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a2 C T 17: 12,831,281 (GRCm39) T357M probably damaging Het
Spag6l A C 16: 16,646,888 (GRCm39) N39K probably benign Het
Srl A G 16: 4,315,316 (GRCm39) S109P possibly damaging Het
Tagap A T 17: 8,148,255 (GRCm39) H152L probably damaging Het
Tbx3 T A 5: 119,818,813 (GRCm39) S463T probably benign Het
Tcaf2 A G 6: 42,619,772 (GRCm39) L85P probably damaging Het
Tenm4 A T 7: 96,544,979 (GRCm39) S2332C probably damaging Het
Trim60 A T 8: 65,454,030 (GRCm39) M73K probably benign Het
Trpc1 T C 9: 95,588,918 (GRCm39) T769A probably benign Het
Tubgcp4 T A 2: 121,025,958 (GRCm39) L601Q probably benign Het
Unc5d T C 8: 29,334,865 (GRCm39) Y154C possibly damaging Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Vmn1r57 G T 7: 5,223,856 (GRCm39) S127I possibly damaging Het
Vmn1r62 T A 7: 5,678,943 (GRCm39) M208K probably damaging Het
Vmn2r110 T C 17: 20,803,642 (GRCm39) D311G possibly damaging Het
Vmn2r48 C A 7: 9,676,185 (GRCm39) S432I probably benign Het
Vmn2r48 T A 7: 9,676,186 (GRCm39) S432C probably damaging Het
Vmn2r71 T C 7: 85,270,442 (GRCm39) V536A probably benign Het
Vstm2a A G 11: 16,209,884 (GRCm39) T37A probably damaging Het
Wfs1 T C 5: 37,124,809 (GRCm39) H694R probably damaging Het
Zdbf2 T C 1: 63,348,940 (GRCm39) S2440P possibly damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null Het
Zfp64 T C 2: 168,767,855 (GRCm39) T586A probably benign Het
Zfp943 T A 17: 22,211,963 (GRCm39) C350S probably damaging Het
Other mutations in Hc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Hc APN 2 34,881,641 (GRCm39) missense probably benign 0.00
IGL00922:Hc APN 2 34,881,680 (GRCm39) missense probably damaging 1.00
IGL01523:Hc APN 2 34,929,250 (GRCm39) missense probably benign 0.04
IGL01746:Hc APN 2 34,947,338 (GRCm39) missense probably damaging 0.98
IGL01793:Hc APN 2 34,918,202 (GRCm39) missense probably damaging 1.00
IGL01972:Hc APN 2 34,873,784 (GRCm39) missense probably damaging 1.00
IGL02037:Hc APN 2 34,903,531 (GRCm39) missense probably benign 0.16
IGL02048:Hc APN 2 34,886,039 (GRCm39) missense probably benign 0.00
IGL02227:Hc APN 2 34,899,923 (GRCm39) intron probably benign
IGL02230:Hc APN 2 34,903,682 (GRCm39) missense probably benign
IGL02254:Hc APN 2 34,874,836 (GRCm39) missense probably damaging 1.00
IGL02363:Hc APN 2 34,890,847 (GRCm39) missense probably benign
IGL02650:Hc APN 2 34,890,886 (GRCm39) missense possibly damaging 0.49
IGL03053:Hc APN 2 34,914,210 (GRCm39) missense probably benign 0.07
IGL03168:Hc APN 2 34,914,210 (GRCm39) missense probably benign 0.07
IGL03341:Hc APN 2 34,893,389 (GRCm39) missense probably damaging 0.98
PIT4142001:Hc UTSW 2 34,921,833 (GRCm39) splice site probably benign
PIT4378001:Hc UTSW 2 34,921,876 (GRCm39) missense probably benign 0.13
PIT4508001:Hc UTSW 2 34,874,816 (GRCm39) missense probably damaging 0.96
PIT4812001:Hc UTSW 2 34,919,464 (GRCm39) missense probably benign 0.16
R0025:Hc UTSW 2 34,876,304 (GRCm39) missense probably damaging 1.00
R0053:Hc UTSW 2 34,947,287 (GRCm39) missense probably benign 0.32
R0197:Hc UTSW 2 34,874,762 (GRCm39) missense probably damaging 1.00
R0218:Hc UTSW 2 34,918,086 (GRCm39) missense probably damaging 1.00
R0242:Hc UTSW 2 34,926,166 (GRCm39) splice site probably benign
R0496:Hc UTSW 2 34,903,583 (GRCm39) missense probably damaging 1.00
R1205:Hc UTSW 2 34,893,536 (GRCm39) missense possibly damaging 0.50
R1468:Hc UTSW 2 34,873,819 (GRCm39) nonsense probably null
R1468:Hc UTSW 2 34,873,819 (GRCm39) nonsense probably null
R1574:Hc UTSW 2 34,890,777 (GRCm39) intron probably benign
R1610:Hc UTSW 2 34,896,173 (GRCm39) missense probably benign 0.44
R1640:Hc UTSW 2 34,947,336 (GRCm39) nonsense probably null
R1887:Hc UTSW 2 34,924,623 (GRCm39) missense probably benign
R1920:Hc UTSW 2 34,919,407 (GRCm39) splice site probably benign
R2018:Hc UTSW 2 34,903,540 (GRCm39) missense probably damaging 1.00
R2019:Hc UTSW 2 34,903,540 (GRCm39) missense probably damaging 1.00
R2151:Hc UTSW 2 34,881,115 (GRCm39) intron probably benign
R2366:Hc UTSW 2 34,903,648 (GRCm39) missense probably benign
R4288:Hc UTSW 2 34,920,414 (GRCm39) missense probably damaging 0.98
R4501:Hc UTSW 2 34,887,488 (GRCm39) splice site probably null
R4502:Hc UTSW 2 34,896,264 (GRCm39) missense probably benign 0.00
R4508:Hc UTSW 2 34,903,077 (GRCm39) missense possibly damaging 0.94
R4583:Hc UTSW 2 34,918,189 (GRCm39) missense probably benign 0.00
R4686:Hc UTSW 2 34,929,260 (GRCm39) missense possibly damaging 0.49
R4776:Hc UTSW 2 34,929,746 (GRCm39) missense probably benign 0.12
R4846:Hc UTSW 2 34,909,682 (GRCm39) missense probably benign 0.00
R5032:Hc UTSW 2 34,903,544 (GRCm39) missense probably benign 0.07
R5089:Hc UTSW 2 34,914,902 (GRCm39) missense probably benign 0.01
R5289:Hc UTSW 2 34,886,026 (GRCm39) critical splice donor site probably null
R5347:Hc UTSW 2 34,927,636 (GRCm39) missense probably benign 0.04
R5356:Hc UTSW 2 34,885,007 (GRCm39) missense probably benign 0.00
R5379:Hc UTSW 2 34,881,077 (GRCm39) missense probably damaging 1.00
R5403:Hc UTSW 2 34,947,446 (GRCm39) missense probably damaging 1.00
R5418:Hc UTSW 2 34,898,195 (GRCm39) critical splice donor site probably null
R5450:Hc UTSW 2 34,903,050 (GRCm39) missense possibly damaging 0.67
R5494:Hc UTSW 2 34,893,551 (GRCm39) splice site probably null
R5713:Hc UTSW 2 34,903,543 (GRCm39) missense probably damaging 0.99
R5898:Hc UTSW 2 34,887,449 (GRCm39) missense probably benign 0.06
R5925:Hc UTSW 2 34,920,462 (GRCm39) missense possibly damaging 0.92
R5942:Hc UTSW 2 34,918,137 (GRCm39) nonsense probably null
R5991:Hc UTSW 2 34,896,117 (GRCm39) missense possibly damaging 0.91
R6036:Hc UTSW 2 34,929,696 (GRCm39) missense probably benign 0.00
R6036:Hc UTSW 2 34,929,696 (GRCm39) missense probably benign 0.00
R6115:Hc UTSW 2 34,903,050 (GRCm39) missense probably damaging 1.00
R6234:Hc UTSW 2 34,918,058 (GRCm39) missense probably benign
R6264:Hc UTSW 2 34,896,285 (GRCm39) critical splice acceptor site probably null
R6313:Hc UTSW 2 34,879,851 (GRCm39) splice site probably null
R6525:Hc UTSW 2 34,881,236 (GRCm39) missense probably benign 0.06
R6577:Hc UTSW 2 34,922,138 (GRCm39) missense probably benign 0.00
R6601:Hc UTSW 2 34,935,906 (GRCm39) missense probably benign 0.03
R6916:Hc UTSW 2 34,900,044 (GRCm39) nonsense probably null
R7108:Hc UTSW 2 34,929,706 (GRCm39) missense probably benign 0.03
R7143:Hc UTSW 2 34,940,450 (GRCm39) missense probably benign 0.00
R7388:Hc UTSW 2 34,874,859 (GRCm39) splice site probably null
R7468:Hc UTSW 2 34,918,063 (GRCm39) missense probably benign 0.00
R7504:Hc UTSW 2 34,951,331 (GRCm39) missense not run
R7521:Hc UTSW 2 34,935,344 (GRCm39) missense possibly damaging 0.80
R7582:Hc UTSW 2 34,881,278 (GRCm39) missense possibly damaging 0.70
R7596:Hc UTSW 2 34,890,859 (GRCm39) missense probably damaging 0.96
R7599:Hc UTSW 2 34,940,431 (GRCm39) missense probably damaging 1.00
R7692:Hc UTSW 2 34,914,161 (GRCm39) missense probably damaging 1.00
R7853:Hc UTSW 2 34,900,045 (GRCm39) missense probably damaging 1.00
R7877:Hc UTSW 2 34,887,411 (GRCm39) nonsense probably null
R8329:Hc UTSW 2 34,902,910 (GRCm39) splice site probably null
R8375:Hc UTSW 2 34,873,731 (GRCm39) missense probably benign 0.32
R8477:Hc UTSW 2 34,879,182 (GRCm39) missense probably damaging 1.00
R8810:Hc UTSW 2 34,909,535 (GRCm39) missense probably benign 0.06
R8888:Hc UTSW 2 34,890,861 (GRCm39) missense probably benign 0.00
R8895:Hc UTSW 2 34,890,861 (GRCm39) missense probably benign 0.00
R8968:Hc UTSW 2 34,922,317 (GRCm39) missense possibly damaging 0.91
R8969:Hc UTSW 2 34,909,475 (GRCm39) critical splice donor site probably null
R9146:Hc UTSW 2 34,924,571 (GRCm39) missense probably damaging 1.00
R9218:Hc UTSW 2 34,922,203 (GRCm39) missense probably damaging 1.00
R9340:Hc UTSW 2 34,876,294 (GRCm39) missense probably damaging 0.99
R9396:Hc UTSW 2 34,927,615 (GRCm39) nonsense probably null
R9569:Hc UTSW 2 34,926,359 (GRCm39) missense probably benign 0.00
R9576:Hc UTSW 2 34,873,767 (GRCm39) missense probably benign 0.01
R9706:Hc UTSW 2 34,914,196 (GRCm39) missense probably damaging 1.00
X0066:Hc UTSW 2 34,873,723 (GRCm39) missense probably damaging 1.00
Z1088:Hc UTSW 2 34,919,482 (GRCm39) missense probably benign 0.02
Z1088:Hc UTSW 2 34,898,261 (GRCm39) missense possibly damaging 0.94
Z1176:Hc UTSW 2 34,896,285 (GRCm39) critical splice acceptor site probably null
Z1177:Hc UTSW 2 34,903,622 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGAGGAGGAGCAATCCC -3'
(R):5'- ATCTGTAAAGAGCTGGCCTTC -3'

Sequencing Primer
(F):5'- CTTCGTGCAGCAGAACT -3'
(R):5'- ACTCCAATTCCAGGGGATTG -3'
Posted On 2015-05-15