Mutagenetix > Incidental Mutation

Incidental Mutation 'R7582:Hc'

586779

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026874

Gene Name

hemolytic complement

Synonyms

C5, Hfib2, He, C5a

MMRRC Submission

045665-MU

Accession Numbers

Essential gene?

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

Stock #

R7582 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34873343-34951450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34881278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1447 (V1447E)

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: V1447E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: V1447E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156412

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,266,565 (GRCm39)	V1007A	probably damaging	Het
Adgrl3	T	C	5: 81,841,523 (GRCm39)	V800A	probably damaging	Het
Ankfn1	T	A	11: 89,417,445 (GRCm39)	M56L	probably benign	Het
Arfgap3	A	C	15: 83,187,302 (GRCm39)	V72G	possibly damaging	Het
B3galnt2	C	T	13: 14,165,986 (GRCm39)	R294W	probably damaging	Het
Cadm1	G	T	9: 47,708,740 (GRCm39)	D157Y	probably damaging	Het
Castor1	T	C	11: 4,170,457 (GRCm39)	V151A	probably benign	Het
Ccdc81	A	T	7: 89,525,353 (GRCm39)	Y474N	probably damaging	Het
Cdkl4	T	A	17: 80,841,264 (GRCm39)	K297I	probably benign	Het
Cep128	G	A	12: 91,314,340 (GRCm39)	T146M	probably damaging	Het
Cfap161	T	C	7: 83,426,290 (GRCm39)	N236S	possibly damaging	Het
Chil3	A	T	3: 106,071,572 (GRCm39)	W31R	probably damaging	Het
Cmtm2b	C	T	8: 105,049,353 (GRCm39)	S86F	probably damaging	Het
Cntnap5a	G	A	1: 116,374,362 (GRCm39)	G958D	probably damaging	Het
Col6a5	A	G	9: 105,822,625 (GRCm39)	L244P	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cul9	A	G	17: 46,821,905 (GRCm39)	Y1857H	probably damaging	Het
Dst	A	G	1: 34,208,964 (GRCm39)	Q1154R	probably damaging	Het
Fgg	G	A	3: 82,921,445 (GRCm39)	G376D	probably damaging	Het
Fmn2	T	C	1: 174,526,356 (GRCm39)	S1392P	probably damaging	Het
Focad	T	C	4: 88,147,615 (GRCm39)	V418A	probably benign	Het
Foxf1	A	T	8: 121,811,430 (GRCm39)	H98L	possibly damaging	Het
Frmd4a	C	CA	2: 4,599,408 (GRCm39)		probably null	Het
Fry	C	A	5: 150,419,847 (GRCm39)	T639K		Het
Fryl	A	G	5: 73,179,843 (GRCm39)		probably null	Het
Gdpd4	A	G	7: 97,607,012 (GRCm39)		probably null	Het
Gpt2	A	G	8: 86,246,145 (GRCm39)	K368R	probably damaging	Het
Kmt5a	A	G	5: 124,597,982 (GRCm39)	T280A	probably benign	Het
Lrrc4b	G	T	7: 44,111,234 (GRCm39)	V369L	probably benign	Het
Ly6g5c	A	G	17: 35,330,783 (GRCm39)	M102V	probably benign	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mib2	T	C	4: 155,739,267 (GRCm39)	N904S	probably benign	Het
Mug2	G	A	6: 122,056,603 (GRCm39)	V1183I	probably damaging	Het
Nckap1l	C	T	15: 103,390,587 (GRCm39)	T786I	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,174 (GRCm39)	V183A	probably benign	Het
Nod1	A	G	6: 54,921,292 (GRCm39)	L342P	probably damaging	Het
Nop58	T	C	1: 59,740,097 (GRCm39)	V163A	probably damaging	Het
Npr3	C	T	15: 11,895,768 (GRCm39)	G293R	probably null	Het
Obscn	T	A	11: 58,952,253 (GRCm39)	K3939*	probably null	Het
Or4d10c	G	A	19: 12,065,370 (GRCm39)	A262V	probably benign	Het
Or4g16	T	A	2: 111,136,793 (GRCm39)	M81K	probably damaging	Het
Or5k16	A	T	16: 58,736,410 (GRCm39)	M198K	possibly damaging	Het
Or5p76	A	G	7: 108,123,058 (GRCm39)	I33T	probably benign	Het
Or8b12b	T	C	9: 37,684,117 (GRCm39)	L54P	probably damaging	Het
P2ry6	A	G	7: 100,587,784 (GRCm39)	Y192H	probably damaging	Het
Paxbp1	A	G	16: 90,819,555 (GRCm39)		probably null	Het
Pign	G	A	1: 105,577,092 (GRCm39)	T197I	probably benign	Het
Pirb	A	T	7: 3,716,817 (GRCm39)		probably null	Het
Pkdrej	C	A	15: 85,703,122 (GRCm39)	R938L	possibly damaging	Het
Psg21	A	G	7: 18,381,128 (GRCm39)	*472R	probably null	Het
Rabgap1l	A	T	1: 160,509,654 (GRCm39)	S474R	probably benign	Het
Rrn3	C	T	16: 13,628,375 (GRCm39)	Q519*	probably null	Het
Seh1l	A	T	18: 67,908,188 (GRCm39)	K37*	probably null	Het
Shprh	A	G	10: 11,040,449 (GRCm39)	S641G	probably benign	Het
Slc4a1	T	G	11: 102,243,403 (GRCm39)	S743R	probably damaging	Het
Snx13	C	T	12: 35,174,534 (GRCm39)	R688*	probably null	Het
Tlr11	C	T	14: 50,599,186 (GRCm39)	Q391*	probably null	Het
Tmbim4	A	G	10: 120,053,471 (GRCm39)	H90R	probably benign	Het
Trav8d-1	T	C	14: 53,016,326 (GRCm39)	S71P	possibly damaging	Het
Trbv5	G	A	6: 41,039,617 (GRCm39)	R74Q	probably benign	Het
Tril	A	G	6: 53,795,921 (GRCm39)	S434P	probably benign	Het
Uhmk1	A	G	1: 170,027,570 (GRCm39)	Y376H	probably damaging	Het
Uty	A	G	Y: 1,170,914 (GRCm39)	C317R	probably damaging	Het
Vmp1	C	T	11: 86,476,225 (GRCm39)	C377Y	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr41	T	C	13: 95,142,275 (GRCm39)	S150P	probably damaging	Het
Zfp617	T	A	8: 72,685,864 (GRCm39)	Y65N	probably benign	Het
Zfp800	A	C	6: 28,244,089 (GRCm39)	V292G	probably 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
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
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'- GAGGGGATCTGTTTGACAAAGTC -3'
(R):5'- GCTGCAAGTGTTCCCTTTGAG -3'

Sequencing Primer
(F):5'- AGTCAAGGTTTTAAGGAAGGTGTG -3'
(R):5'- CCCTTTGAGATGTCGTGAATGC -3'

Posted On

2019-10-24