Mutagenetix > Incidental Mutation

Incidental Mutation 'R4686:Hc'

353652

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026874

Gene Name

hemolytic complement

Synonyms

C5, Hfib2, He, C5a

MMRRC Submission

041937-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.492) question?

Stock #

R4686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34873343-34951450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34929260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 279 (E279G)

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

possibly damaging
Transcript: ENSMUST00000028233
AA Change: E279G

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: E279G

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (68/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,983,837 (GRCm39)	N411S	probably damaging	Het
Adnp	A	C	2: 168,024,309 (GRCm39)	C995W	possibly damaging	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Ano2	T	G	6: 125,767,254 (GRCm39)	I228M	probably benign	Het
Arhgap21	T	C	2: 20,868,033 (GRCm39)	D830G	probably damaging	Het
Atp13a2	G	A	4: 140,730,587 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,159,052 (GRCm39)	S629N	probably damaging	Het
Cdhr4	T	C	9: 107,872,883 (GRCm39)	W311R	probably benign	Het
Chaf1b	A	G	16: 93,681,472 (GRCm39)	H30R	probably benign	Het
Clnk	G	A	5: 38,899,180 (GRCm39)		probably benign	Het
Copb1	A	G	7: 113,820,971 (GRCm39)	S773P	possibly damaging	Het
Cse1l	A	G	2: 166,774,080 (GRCm39)	D198G	probably damaging	Het
Ears2	A	G	7: 121,647,427 (GRCm39)	S286P	probably damaging	Het
Efcab7	A	G	4: 99,735,318 (GRCm39)	E114G	probably benign	Het
Fanca	G	C	8: 123,995,673 (GRCm39)		probably benign	Het
Flt3	A	G	5: 147,313,858 (GRCm39)	L64P	probably damaging	Het
Gabrb1	A	G	5: 71,857,365 (GRCm39)	T3A	possibly damaging	Het
Gm10384	T	C	15: 36,871,897 (GRCm39)		noncoding transcript	Het
Gm5117	G	A	8: 32,229,284 (GRCm39)		noncoding transcript	Het
Gpr141	T	A	13: 19,935,951 (GRCm39)	I275F	probably benign	Het
Greb1l	A	T	18: 10,522,112 (GRCm39)	E736V	probably damaging	Het
Hivep1	C	T	13: 42,309,326 (GRCm39)	T522M	probably benign	Het
Hspa12a	T	A	19: 58,788,181 (GRCm39)	E547V	possibly damaging	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Iqcf6	G	T	9: 106,504,543 (GRCm39)	W69L	probably damaging	Het
Iqgap2	T	C	13: 95,858,117 (GRCm39)	N379S	probably damaging	Het
Itpr2	A	G	6: 146,131,273 (GRCm39)	I1977T	probably damaging	Het
Kcnq1	A	T	7: 142,661,466 (GRCm39)	Y124F	probably benign	Het
Lamp5	C	T	2: 135,900,923 (GRCm39)	T41M	probably damaging	Het
Lgr5	A	G	10: 115,294,648 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,355 (GRCm39)	I167T	possibly damaging	Het
Myf6	A	G	10: 107,329,689 (GRCm39)	V198A	probably benign	Het
Nceh1	C	T	3: 27,295,818 (GRCm39)	R360C	probably damaging	Het
Nos2	C	A	11: 78,819,456 (GRCm39)	T56N	possibly damaging	Het
Npw	T	G	17: 24,876,386 (GRCm39)	H175P	probably benign	Het
Nrxn3	A	T	12: 89,477,421 (GRCm39)	I899F	probably damaging	Het
Ociad1	A	G	5: 73,464,078 (GRCm39)	T179A	possibly damaging	Het
Or1e19	A	G	11: 73,316,264 (GRCm39)	S182P	probably benign	Het
Or52b4	A	G	7: 102,184,356 (GRCm39)	Y134C	probably damaging	Het
Or8b48	T	A	9: 38,493,327 (GRCm39)	F251L	probably damaging	Het
Pacsin2	T	C	15: 83,265,976 (GRCm39)	N74D	probably benign	Het
Pcdh7	A	G	5: 58,286,511 (GRCm39)	I1196V	probably benign	Het
Pdxk	A	T	10: 78,282,837 (GRCm39)		probably null	Het
Phb2	G	A	6: 124,690,105 (GRCm39)		probably null	Het
Pus7l	T	A	15: 94,438,092 (GRCm39)	N251I	probably damaging	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Runx2	T	A	17: 44,950,572 (GRCm39)	D327V	probably damaging	Het
Srp68	A	T	11: 116,156,227 (GRCm39)	C172S	probably damaging	Het
Stk25	A	G	1: 93,551,142 (GRCm39)		probably null	Het
Tbrg4	C	T	11: 6,568,468 (GRCm39)	R437Q	probably benign	Het
Tedc2	C	T	17: 24,436,862 (GRCm39)		probably null	Het
Teddm1a	T	A	1: 153,768,196 (GRCm39)	I220N	probably damaging	Het
Thoc1	G	T	18: 9,970,312 (GRCm39)	E221*	probably null	Het
Tmem132d	G	T	5: 127,869,674 (GRCm39)	D553E	possibly damaging	Het
Topors	A	T	4: 40,261,694 (GRCm39)	V530D	probably benign	Het
Tpx2	T	C	2: 152,731,103 (GRCm39)	V515A	possibly damaging	Het
Trim24	A	G	6: 37,885,240 (GRCm39)	H191R	probably damaging	Het
Ttn	G	A	2: 76,567,914 (GRCm39)	R27660W	probably damaging	Het
Vmn1r203	T	C	13: 22,708,528 (GRCm39)	L103P	probably damaging	Het
Vmn1r233	C	T	17: 21,214,368 (GRCm39)	S194N	probably benign	Het
Vmn2r108	T	C	17: 20,691,636 (GRCm39)	K296E	probably damaging	Het
Vmn2r88	G	A	14: 51,650,796 (GRCm39)	E170K	probably benign	Het
Zfp740	C	T	15: 102,117,184 (GRCm39)		probably benign	Het
Zmym5	A	G	14: 57,049,618 (GRCm39)		probably benign	Het

Other mutations in Hc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTAACTGGCAAGGGAGGCTG -3'
(R):5'- GGCAGCATATCATGTGCCTTG -3'

Sequencing Primer
(F):5'- CCACCTTACTTATTGAGGCAGGG -3'
(R):5'- GCAGCATATCATGTGCCTTGTCTAAC -3'

Posted On

2015-10-21