Mutagenetix > Incidental Mutation

Incidental Mutation 'R6036:Hc'

479194

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026874

Gene Name

hemolytic complement

Synonyms

C5, Hfib2, He, C5a

MMRRC Submission

043257-MU

Accession Numbers

Essential gene?

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

Stock #

R6036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34873343-34951450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34929696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 249 (T249A)

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 benign
Transcript: ENSMUST00000028233
AA Change: T249A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: T249A

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: 99.0%
10x: 92.6%
20x: 72.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,723,684 (GRCm39)		probably benign	Het
Ago1	C	T	4: 126,337,021 (GRCm39)	R228H	probably damaging	Het
Alpk3	G	A	7: 80,743,005 (GRCm39)	V941M	probably benign	Het
Ano4	A	G	10: 88,818,127 (GRCm39)	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 43,919,194 (GRCm39)	Y464H	probably benign	Het
Barx2	A	T	9: 31,824,304 (GRCm39)	D28E	probably damaging	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Col10a1	A	G	10: 34,271,278 (GRCm39)	T417A	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,189,420 (GRCm39)	S227P	probably damaging	Het
Erv3	G	A	2: 131,697,925 (GRCm39)	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,251,779 (GRCm39)	T591A	possibly damaging	Het
F5	A	T	1: 164,012,565 (GRCm39)	E493V	probably damaging	Het
Gm8444	G	T	15: 81,727,794 (GRCm39)		probably benign	Het
Gria4	T	A	9: 4,537,646 (GRCm39)	I221L	probably benign	Het
H2bc13	A	T	13: 21,900,148 (GRCm39)	S56T	probably damaging	Het
Herc2	A	G	7: 55,717,801 (GRCm39)	T48A	probably benign	Het
Hp	A	G	8: 110,303,406 (GRCm39)		probably null	Het
Ifna15	T	G	4: 88,476,310 (GRCm39)	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,308,421 (GRCm39)	M262L	probably benign	Het
Krt87	A	C	15: 101,385,412 (GRCm39)	I320S	possibly damaging	Het
Megf10	A	G	18: 57,375,799 (GRCm39)	N242D	probably damaging	Het
Nup155	A	G	15: 8,157,895 (GRCm39)	T451A	probably benign	Het
Or2ag2b	A	T	7: 106,417,667 (GRCm39)	I126F	probably damaging	Het
Or4g7	T	C	2: 111,309,333 (GRCm39)	L68P	probably damaging	Het
Or4k35	C	T	2: 111,099,957 (GRCm39)	G252R	probably damaging	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Or8d23	A	G	9: 38,842,216 (GRCm39)	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,293,641 (GRCm39)	P403S	probably damaging	Het
Piezo2	G	A	18: 63,248,019 (GRCm39)	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618 (GRCm39)	E191G	possibly damaging	Het
Pou4f2	A	T	8: 79,162,103 (GRCm39)	S167T	probably damaging	Het
Scd4	G	A	19: 44,333,231 (GRCm39)	D319N	probably damaging	Het
Senp2	A	T	16: 21,847,308 (GRCm39)	R279*	probably null	Het
Sh3rf3	G	A	10: 58,649,806 (GRCm39)	G137D	probably benign	Het
Simc1	C	T	13: 54,672,434 (GRCm39)	P261S	probably benign	Het
Slc26a1	T	A	5: 108,821,436 (GRCm39)	D151V	probably damaging	Het
Snx29	A	G	16: 11,556,301 (GRCm39)		probably null	Het
Stard9	C	T	2: 120,530,556 (GRCm39)	A2271V	probably benign	Het
Stat6	A	G	10: 127,491,313 (GRCm39)	N485D	possibly damaging	Het
Tpcn2	T	C	7: 144,822,606 (GRCm39)	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,361,114 (GRCm39)	I378V	possibly damaging	Het
Ttc29	A	G	8: 79,052,205 (GRCm39)	D362G	probably benign	Het
Ttll7	A	G	3: 146,645,917 (GRCm39)	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,172 (GRCm39)	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,367,830 (GRCm39)	Q87R	probably damaging	Het
Wdfy4	G	T	14: 32,868,947 (GRCm39)	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,662,993 (GRCm39)	Y521H	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
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

Posted On

2017-06-26