Incidental Mutation 'R7853:Hc'
ID 607035
Institutional Source Beutler Lab
Gene Symbol Hc
Ensembl Gene ENSMUSG00000026874
Gene Name hemolytic complement
Synonyms C5, Hfib2, He, C5a
MMRRC Submission 045906-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.492) question?
Stock # R7853 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 34873343-34951450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34900045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1096 (Y1096F)
Ref Sequence ENSEMBL: ENSMUSP00000028233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028233]
AlphaFold P06684
PDB Structure Crystal structure of the mouse C5a anaphylatoxin [X-RAY DIFFRACTION]
Crystal structure of the mouse C5a-desArg anaphylatoxin [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028233
AA Change: Y1096F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: Y1096F

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 benign
Transcript: ENSMUST00000156412
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,600 (GRCm39) I26T probably damaging Het
Aadacl4 G T 4: 144,344,592 (GRCm39) A123S probably benign Het
Adamts20 A C 15: 94,243,871 (GRCm39) C619G probably damaging Het
Ahcyl1 C A 3: 107,575,604 (GRCm39) V394L probably benign Het
Ankrd17 A C 5: 90,386,825 (GRCm39) L2378V possibly damaging Het
B3gnt3 T C 8: 72,145,357 (GRCm39) Y337C probably damaging Het
Bcl10 A G 3: 145,630,266 (GRCm39) K18R possibly damaging Het
Calcr G A 6: 3,707,499 (GRCm39) A267V probably benign Het
Ces1d C T 8: 93,901,695 (GRCm39) G425S probably benign Het
Col1a1 G T 11: 94,838,505 (GRCm39) R899L unknown Het
Commd1 C T 11: 22,906,532 (GRCm39) R168H possibly damaging Het
Cps1 T C 1: 67,213,640 (GRCm39) S791P possibly damaging Het
Ctsj T A 13: 61,151,884 (GRCm39) I58F probably damaging Het
Cyp2j5 T A 4: 96,529,656 (GRCm39) K238N probably benign Het
Dlgap4 A G 2: 156,547,802 (GRCm39) D423G probably benign Het
Eef1ece2 T A 16: 20,463,010 (GRCm39) probably null Het
Egln1 T C 8: 125,675,256 (GRCm39) N180D probably benign Het
Ehd1 T C 19: 6,327,225 (GRCm39) F74S probably damaging Het
Ext1 G A 15: 52,970,881 (GRCm39) A350V probably damaging Het
Fam186b T A 15: 99,178,628 (GRCm39) I233F probably damaging Het
Fam193a T G 5: 34,597,473 (GRCm39) N91K probably benign Het
Far1 T A 7: 113,153,355 (GRCm39) N329K probably damaging Het
Fhad1 A G 4: 141,637,134 (GRCm39) S1111P probably damaging Het
Fhl2 A G 1: 43,180,984 (GRCm39) S69P probably damaging Het
Flg2 C A 3: 93,128,054 (GRCm39) P2322Q unknown Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fos T A 12: 85,522,792 (GRCm39) S235T probably benign Het
Foxf1 T A 8: 121,811,438 (GRCm39) S101T probably damaging Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Ggps1 T C 13: 14,229,034 (GRCm39) I50V probably benign Het
Gkn2 A G 6: 87,355,255 (GRCm39) T155A probably benign Het
Gna12 C T 5: 140,746,449 (GRCm39) C332Y probably damaging Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Hsd17b8 T G 17: 34,246,411 (GRCm39) D117A probably benign Het
Ifi206 A T 1: 173,299,100 (GRCm39) Y835* probably null Het
Ighv13-2 T G 12: 114,321,544 (GRCm39) E65A probably damaging Het
Kif5a A T 10: 127,071,537 (GRCm39) Y770* probably null Het
Lfng A G 5: 140,593,384 (GRCm39) S72G probably benign Het
Lipo2 C T 19: 33,737,344 (GRCm39) probably benign Het
Lnpep C T 17: 17,783,109 (GRCm39) S564N probably benign Het
Mfhas1 T A 8: 36,057,025 (GRCm39) L500* probably null Het
Mllt6 G A 11: 97,561,142 (GRCm39) V277I probably benign Het
Mroh5 C T 15: 73,663,189 (GRCm39) D192N probably benign Het
Myo1f T A 17: 33,795,672 (GRCm39) V106D probably damaging Het
Mypn T A 10: 62,981,652 (GRCm39) I643F probably benign Het
Nup188 A G 2: 30,213,575 (GRCm39) N669D possibly damaging Het
Or14j5 C G 17: 38,161,714 (GRCm39) T77R probably damaging Het
Or2r11 A T 6: 42,437,573 (GRCm39) C127S probably damaging Het
Or5g26 T C 2: 85,494,689 (GRCm39) T30A probably benign Het
Or8s8 T C 15: 98,354,866 (GRCm39) V225A probably benign Het
Osbpl10 A G 9: 115,036,726 (GRCm39) T241A probably damaging Het
Peg3 C T 7: 6,711,839 (GRCm39) E1128K possibly damaging Het
Plch1 C A 3: 63,681,068 (GRCm39) M186I probably benign Het
Pon3 A C 6: 5,236,911 (GRCm39) L152R probably damaging Het
Prr36 G A 8: 4,263,905 (GRCm39) P587L unknown Het
Psma2 T A 13: 14,799,832 (GRCm39) I192N probably damaging Het
Rbm11 T C 16: 75,389,923 (GRCm39) F30L probably damaging Het
Rpap3 G A 15: 97,576,299 (GRCm39) A622V possibly damaging Het
Scgb2b11 T A 7: 31,908,807 (GRCm39) N98Y probably damaging Het
Siglec1 A G 2: 130,923,212 (GRCm39) L511P probably damaging Het
Sirpb1c C T 3: 15,887,156 (GRCm39) V228M probably damaging Het
Smpd4 T A 16: 17,460,605 (GRCm39) Y804N probably damaging Het
Sult6b2 T C 6: 142,747,524 (GRCm39) D75G not run Het
Sycp3 A C 10: 88,302,368 (GRCm39) K119N probably damaging Het
Syne2 T C 12: 76,078,278 (GRCm39) L4703P probably damaging Het
Tex12 C G 9: 50,470,523 (GRCm39) L20F possibly damaging Het
Them5 T A 3: 94,250,603 (GRCm39) Y55* probably null Het
Tmem43 A T 6: 91,458,968 (GRCm39) D213V probably benign Het
Tnfrsf10b A C 14: 70,005,239 (GRCm39) Q44P unknown Het
Trbv2 A T 6: 41,024,836 (GRCm39) Q84L probably benign Het
Trim2 C T 3: 84,212,537 (GRCm39) probably benign Het
Trim36 A G 18: 46,305,558 (GRCm39) V475A probably benign Het
Ttbk1 C A 17: 46,758,269 (GRCm39) E788D probably benign Het
Ttn T C 2: 76,543,626 (GRCm39) D33120G probably damaging Het
Ttn T A 2: 76,576,256 (GRCm39) N24879I probably damaging Het
Ube4a T A 9: 44,864,308 (GRCm39) Q76L probably benign Het
Vmn2r27 T A 6: 124,168,980 (GRCm39) I717F probably damaging Het
Vmn2r45 T C 7: 8,485,987 (GRCm39) K434E possibly damaging Het
Vta1 T C 10: 14,531,461 (GRCm39) T305A probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign 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
R4093:Hc UTSW 2 34,873,819 (GRCm39) nonsense probably null
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
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'- TCCTTAACCTCCTATAATAGAATGGG -3'
(R):5'- TCATCAGCAAAGGTGTGTTGTTC -3'

Sequencing Primer
(F):5'- TCTGATTTCCTCACCTGTAA -3'
(R):5'- TCCCTTTGTCATCCTGTAAAATGATG -3'
Posted On 2019-12-20