Mutagenetix > Incidental Mutations

Incidental Mutation 'R7504:Hc'

581655

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026874

Gene Name

hemolytic complement

Synonyms

He, C5, C5a

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.694) question?

Stock #

R7504 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34983331-35061438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35061319 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 22 (T22I)

Ref Sequence

ENSEMBL: ENSMUSP00000028233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028233]

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

not run
Transcript: ENSMUST00000028233
AA Change: T22I

SMART Domains

Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: T22I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	G	17: 14,943,653	A14G	probably damaging	Het
6430573F11Rik	A	C	8: 36,512,155	N304T	probably benign	Het
Btn1a1	A	T	13: 23,461,716	M161K	probably benign	Het
Camkk2	G	A	5: 122,746,308	T350I	probably damaging	Het
Cdc42bpg	C	A	19: 6,306,784	D23E	possibly damaging	Het
Cdkn1a	T	C	17: 29,098,514	L36P	probably damaging	Het
Dek	A	G	13: 47,088,035	I351T	probably damaging	Het
Dst	T	C	1: 34,201,017	Y1816H	probably damaging	Het
Efl1	T	A	7: 82,683,049	N300K	probably damaging	Het
Ephx2	A	G	14: 66,101,617	Y294H	probably damaging	Het
Fancd2	T	A	6: 113,545,038	I198N	probably damaging	Het
Gm6502	G	T	5: 94,317,047	V431L	probably benign	Het
Grid1	G	T	14: 35,562,513	A738S	probably damaging	Het
Gsx2	G	A	5: 75,076,399		probably null	Het
Hps1	T	C	19: 42,766,720	D261G	probably benign	Het
Ift80	T	C	3: 68,918,005	Y539C	probably damaging	Het
Insc	G	T	7: 114,791,298		probably null	Het
Isg15	T	C	4: 156,200,045	M9V	probably damaging	Het
Kalrn	A	G	16: 34,256,233	L695P	unknown	Het
Nars	A	C	18: 64,512,022	F52V	probably benign	Het
Nmt1	T	G	11: 103,056,459	F225V	probably damaging	Het
Olfr1352	A	G	10: 78,984,660	Y290C	possibly damaging	Het
Olfr143	A	T	9: 38,254,243	K272N	possibly damaging	Het
Olfr1495	T	A	19: 13,768,732	I130N	probably damaging	Het
Pbx3	T	C	2: 34,175,924	T385A	probably damaging	Het
Pcdhb11	A	T	18: 37,421,799	T61S	probably benign	Het
Rab11fip1	T	C	8: 27,152,953	E606G	possibly damaging	Het
Rnf216	A	G	5: 143,075,759	Y589H	probably benign	Het
Scara3	A	G	14: 65,931,331	I279T	possibly damaging	Het
Sdk2	T	A	11: 113,867,967	Y477F	possibly damaging	Het
Secisbp2l	T	C	2: 125,758,171	K415E	probably benign	Het
Stag1	C	T	9: 100,888,328	T639I	probably benign	Het
Sv2b	A	T	7: 75,136,383	F430I	probably benign	Het
Tenm2	C	T	11: 36,139,743	C743Y	probably damaging	Het
Tet2	C	A	3: 133,487,339	V445L	probably benign	Het
Tmem132c	T	C	5: 127,554,632	S652P	probably damaging	Het
Togaram1	A	G	12: 64,992,617	D1155G	possibly damaging	Het
Traip	T	C	9: 107,961,544	I169T	probably benign	Het
Usp45	T	G	4: 21,816,892	M374R	possibly damaging	Het
Vmn2r81	A	T	10: 79,268,332	H263L	probably benign	Het
Wdr95	T	C	5: 149,581,846	V364A	probably damaging	Het
Zfp128	G	A	7: 12,890,478	D258N	probably damaging	Het
Zfp335	G	A	2: 164,909,418	T76I	probably benign	Het
Zfp688	C	A	7: 127,419,311	C214F	probably damaging	Het
Zfp760	T	C	17: 21,722,674	S277P	probably damaging	Het

Other mutations in Hc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Hc	APN	2	34991629	missense	probably benign	0.00
IGL00922:Hc	APN	2	34991668	missense	probably damaging	1.00
IGL01523:Hc	APN	2	35039238	missense	probably benign	0.04
IGL01746:Hc	APN	2	35057326	missense	probably damaging	0.98
IGL01793:Hc	APN	2	35028190	missense	probably damaging	1.00
IGL01972:Hc	APN	2	34983772	missense	probably damaging	1.00
IGL02037:Hc	APN	2	35013519	missense	probably benign	0.16
IGL02048:Hc	APN	2	34996027	missense	probably benign	0.00
IGL02227:Hc	APN	2	35009911	intron	probably benign
IGL02230:Hc	APN	2	35013670	missense	probably benign
IGL02254:Hc	APN	2	34984824	missense	probably damaging	1.00
IGL02363:Hc	APN	2	35000835	missense	probably benign
IGL02650:Hc	APN	2	35000874	missense	possibly damaging	0.49
IGL03053:Hc	APN	2	35024198	missense	probably benign	0.07
IGL03168:Hc	APN	2	35024198	missense	probably benign	0.07
IGL03341:Hc	APN	2	35003377	missense	probably damaging	0.98
PIT4142001:Hc	UTSW	2	35031821	splice site	probably benign
PIT4378001:Hc	UTSW	2	35031864	missense	probably benign	0.13
PIT4508001:Hc	UTSW	2	34984804	missense	probably damaging	0.96
PIT4812001:Hc	UTSW	2	35029452	missense	probably benign	0.16
R0025:Hc	UTSW	2	34986292	missense	probably damaging	1.00
R0053:Hc	UTSW	2	35057275	missense	probably benign	0.32
R0197:Hc	UTSW	2	34984750	missense	probably damaging	1.00
R0218:Hc	UTSW	2	35028074	missense	probably damaging	1.00
R0242:Hc	UTSW	2	35036154	splice site	probably benign
R0496:Hc	UTSW	2	35013571	missense	probably damaging	1.00
R1205:Hc	UTSW	2	35003524	missense	possibly damaging	0.50
R1468:Hc	UTSW	2	34983807	nonsense	probably null
R1468:Hc	UTSW	2	34983807	nonsense	probably null
R1574:Hc	UTSW	2	35000765	intron	probably benign
R1610:Hc	UTSW	2	35006161	missense	probably benign	0.44
R1640:Hc	UTSW	2	35057324	nonsense	probably null
R1887:Hc	UTSW	2	35034611	missense	probably benign
R1920:Hc	UTSW	2	35029395	splice site	probably benign
R2018:Hc	UTSW	2	35013528	missense	probably damaging	1.00
R2019:Hc	UTSW	2	35013528	missense	probably damaging	1.00
R2151:Hc	UTSW	2	34991103	intron	probably benign
R2366:Hc	UTSW	2	35013636	missense	probably benign
R4093:Hc	UTSW	2	34983807	nonsense	probably null
R4288:Hc	UTSW	2	35030402	missense	probably damaging	0.98
R4501:Hc	UTSW	2	34997476	splice site	probably null
R4502:Hc	UTSW	2	35006252	missense	probably benign	0.00
R4508:Hc	UTSW	2	35013065	missense	possibly damaging	0.94
R4583:Hc	UTSW	2	35028177	missense	probably benign	0.00
R4686:Hc	UTSW	2	35039248	missense	possibly damaging	0.49
R4776:Hc	UTSW	2	35039734	missense	probably benign	0.12
R4846:Hc	UTSW	2	35019670	missense	probably benign	0.00
R5032:Hc	UTSW	2	35013532	missense	probably benign	0.07
R5089:Hc	UTSW	2	35024890	missense	probably benign	0.01
R5289:Hc	UTSW	2	34996014	critical splice donor site	probably null
R5347:Hc	UTSW	2	35037624	missense	probably benign	0.04
R5356:Hc	UTSW	2	34994995	missense	probably benign	0.00
R5379:Hc	UTSW	2	34991065	missense	probably damaging	1.00
R5403:Hc	UTSW	2	35057434	missense	probably damaging	1.00
R5418:Hc	UTSW	2	35008183	critical splice donor site	probably null
R5450:Hc	UTSW	2	35013038	missense	possibly damaging	0.67
R5494:Hc	UTSW	2	35003539	splice site	probably null
R5713:Hc	UTSW	2	35013531	missense	probably damaging	0.99
R5898:Hc	UTSW	2	34997437	missense	probably benign	0.06
R5925:Hc	UTSW	2	35030450	missense	possibly damaging	0.92
R5942:Hc	UTSW	2	35028125	nonsense	probably null
R5991:Hc	UTSW	2	35006105	missense	possibly damaging	0.91
R6036:Hc	UTSW	2	35039684	missense	probably benign	0.00
R6036:Hc	UTSW	2	35039684	missense	probably benign	0.00
R6115:Hc	UTSW	2	35013038	missense	probably damaging	1.00
R6234:Hc	UTSW	2	35028046	missense	probably benign
R6264:Hc	UTSW	2	35006273	critical splice acceptor site	probably null
R6313:Hc	UTSW	2	34989839	splice site	probably null
R6525:Hc	UTSW	2	34991224	missense	probably benign	0.06
R6577:Hc	UTSW	2	35032126	missense	probably benign	0.00
R6601:Hc	UTSW	2	35045894	missense	probably benign	0.03
R6916:Hc	UTSW	2	35010032	nonsense	probably null
R7108:Hc	UTSW	2	35039694	missense	probably benign	0.03
R7143:Hc	UTSW	2	35050438	missense	probably benign	0.00
R7388:Hc	UTSW	2	34984847	splice site	probably null
R7468:Hc	UTSW	2	35028051	missense	probably benign	0.00
R7521:Hc	UTSW	2	35045332	missense	possibly damaging	0.80
R7582:Hc	UTSW	2	34991266	missense	possibly damaging	0.70
R7596:Hc	UTSW	2	35000847	missense	probably damaging	0.96
R7599:Hc	UTSW	2	35050419	missense	probably damaging	1.00
R7692:Hc	UTSW	2	35024149	missense	probably damaging	1.00
R7853:Hc	UTSW	2	35010033	missense	probably damaging	1.00
R7877:Hc	UTSW	2	34997399	nonsense	probably null
R8329:Hc	UTSW	2	35012898	splice site	probably null
R8375:Hc	UTSW	2	34983719	missense	probably benign	0.32
R8477:Hc	UTSW	2	34989170	missense	probably damaging	1.00
R8810:Hc	UTSW	2	35019523	missense	probably benign	0.06
R8888:Hc	UTSW	2	35000849	missense	not run
R8895:Hc	UTSW	2	35000849	missense	not run
X0066:Hc	UTSW	2	34983711	missense	probably damaging	1.00
Z1088:Hc	UTSW	2	35008249	missense	possibly damaging	0.94
Z1088:Hc	UTSW	2	35029470	missense	probably benign	0.02
Z1176:Hc	UTSW	2	35006273	critical splice acceptor site	probably null
Z1177:Hc	UTSW	2	35013610	missense	probably damaging	1.00

Predicted Primers

Posted On

2019-10-17