Mutagenetix > Incidental Mutation

Incidental Mutation 'R5925:Hc'

461768

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026874

Gene Name

hemolytic complement

Synonyms

C5, Hfib2, He, C5a

MMRRC Submission

044120-MU

Accession Numbers

Essential gene?

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

Stock #

R5925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34873343-34951450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34920462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 628 (D628V)

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: D628V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: D628V

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

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.4%
20x: 91.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	C	T	5: 66,147,735 (GRCm39)	W16*	probably null	Het
Abca8a	T	C	11: 109,948,049 (GRCm39)	D985G	probably damaging	Het
Afp	T	A	5: 90,645,147 (GRCm39)	C188S	probably damaging	Het
Ank2	A	C	3: 126,726,612 (GRCm39)	L894R	probably benign	Het
Antxr1	A	G	6: 87,289,344 (GRCm39)	I60T	probably damaging	Het
Bltp2	T	C	11: 78,175,064 (GRCm39)	V1733A	probably benign	Het
Ccdc187	A	G	2: 26,183,593 (GRCm39)	S136P	probably benign	Het
Cep95	T	C	11: 106,703,227 (GRCm39)	S393P	probably benign	Het
Cyfip2	T	C	11: 46,098,263 (GRCm39)	Y1053C	probably damaging	Het
Diaph1	A	G	18: 38,024,988 (GRCm39)	V491A	unknown	Het
Dync2i1	A	T	12: 116,197,014 (GRCm39)	F448I	possibly damaging	Het
Ehf	T	C	2: 103,097,338 (GRCm39)		probably null	Het
Eif2b5	C	T	16: 20,326,874 (GRCm39)	H99Y	probably benign	Het
Exosc10	C	A	4: 148,657,819 (GRCm39)	T655K	probably benign	Het
Flg	A	T	3: 93,186,706 (GRCm39)	I53F	probably damaging	Het
Lmo4	A	T	3: 143,900,252 (GRCm39)	N83K	probably benign	Het
Lrp4	A	T	2: 91,342,029 (GRCm39)	T1881S	probably benign	Het
Malt1	T	A	18: 65,564,439 (GRCm39)	L66Q	possibly damaging	Het
Map3k3	T	C	11: 106,040,376 (GRCm39)	S314P	probably benign	Het
Mpzl3	G	T	9: 44,973,412 (GRCm39)	K50N	probably damaging	Het
Nbeal2	G	T	9: 110,458,948 (GRCm39)	Q1992K	probably benign	Het
Nlrp14	T	A	7: 106,785,860 (GRCm39)	N645K	probably benign	Het
Or2g1	T	C	17: 38,106,482 (GRCm39)	I49T	probably benign	Het
Or6c76b	A	G	10: 129,692,744 (GRCm39)	D119G	probably damaging	Het
Pcdha1	T	A	18: 37,063,724 (GRCm39)	D129E	probably damaging	Het
Prb1a	A	G	6: 132,187,475 (GRCm39)	L2P	unknown	Het
Rhbdf1	A	G	11: 32,162,906 (GRCm39)	Y454H	probably benign	Het
Satb2	C	T	1: 56,836,097 (GRCm39)	A565T	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,256,051 (GRCm39)	L889Q	probably damaging	Het
Sis	T	C	3: 72,828,713 (GRCm39)		probably null	Het
Slc35e2	T	C	4: 155,696,084 (GRCm39)	V157A	probably damaging	Het
Slc35f3	T	C	8: 127,115,946 (GRCm39)	V291A	probably benign	Het
Snph	T	C	2: 151,436,151 (GRCm39)	D190G	probably damaging	Het
Tpd52l1	T	C	10: 31,208,943 (GRCm39)	H170R	probably benign	Het
Trav18	A	G	14: 54,069,152 (GRCm39)	T65A	probably benign	Het
Trip12	G	A	1: 84,726,974 (GRCm39)	Q9*	probably null	Het
Ttn	C	T	2: 76,632,592 (GRCm39)	C12408Y	probably damaging	Het
Ttn	T	C	2: 76,639,355 (GRCm39)	D13806G	probably damaging	Het
Unc79	G	C	12: 103,091,989 (GRCm39)		probably null	Het
Vmn2r81	T	C	10: 79,083,637 (GRCm39)	S4P	probably damaging	Het
Zfp37	G	A	4: 62,109,450 (GRCm39)	T576I	possibly damaging	Het
Zfp39	A	T	11: 58,782,099 (GRCm39)	L221Q	possibly damaging	Het
Zgrf1	A	G	3: 127,366,853 (GRCm39)	H744R	possibly damaging	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
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
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'- CATTGATAGTCTTAGGAAGTGGGATAG -3'
(R):5'- GCTCTGGGATAATTCCTAAGATTCTAC -3'

Sequencing Primer
(F):5'- AGTGGGATAGGAATGATGTCTG -3'
(R):5'- ACTCATCAATGCTATTTGCTTAAGG -3'

Posted On

2017-02-28