Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02363:Hc'

290616

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000026874

Gene Name

hemolytic complement

Synonyms

He, C5, C5a

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

IGL02363

Quality Score

Status

Chromosome

Chromosomal Location

34983331-35061438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35000835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1323 (H1323R)

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: H1323R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: H1323R

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

noncoding transcript
Transcript: ENSMUST00000125549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153559

Predicted Effect

probably benign
Transcript: ENSMUST00000156412

Coding Region Coverage

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,218,437	H1490L	possibly damaging	Het
Ak8	T	C	2: 28,812,898	S425P	probably damaging	Het
Comt	T	C	16: 18,411,131	D153G	probably benign	Het
Exoc6	T	C	19: 37,608,954	I601T	probably damaging	Het
F11	A	T	8: 45,241,531	C598S	probably damaging	Het
Galnt13	G	T	2: 55,112,860	D524Y	probably damaging	Het
Glb1l3	T	C	9: 26,853,644	E157G	probably damaging	Het
Hsd3b5	T	C	3: 98,630,105	I32V	probably benign	Het
Il6ra	A	G	3: 89,871,253	S430P	probably benign	Het
Lama2	G	T	10: 27,366,066	T298K	probably damaging	Het
Nedd4l	T	C	18: 65,208,045		probably benign	Het
Ntrk3	T	C	7: 78,453,337	D405G	probably benign	Het
Opn5	T	C	17: 42,557,491	D371G	probably benign	Het
Pcdh15	G	T	10: 74,317,086	A408S	probably damaging	Het
Pim3	T	C	15: 88,862,913	V54A	probably benign	Het
Prdm5	T	C	6: 65,794,319	F38S	probably damaging	Het
Ptgs2	C	T	1: 150,105,709		probably null	Het
Rnf185	A	G	11: 3,418,015	I221T	possibly damaging	Het
Slc27a2	T	C	2: 126,578,950	F318L	possibly damaging	Het
Spata1	T	C	3: 146,487,364	Y124C	possibly damaging	Het
Tmie	G	T	9: 110,870,753		probably benign	Het
Tph2	T	C	10: 115,079,981	K429R	probably benign	Het
Usp32	A	G	11: 85,044,787	Y388H	probably benign	Het
Vmn2r60	A	T	7: 42,195,154	Q647L	probably benign	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
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
R7504:Hc	UTSW	2	35061319	missense	not run
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	probably benign	0.00
R8895:Hc	UTSW	2	35000849	missense	probably benign	0.00
R8968:Hc	UTSW	2	35032305	missense	possibly damaging	0.91
R8969:Hc	UTSW	2	35019463	critical splice donor site	probably null
R9146:Hc	UTSW	2	35034559	missense	probably damaging	1.00
R9218:Hc	UTSW	2	35032191	missense	probably damaging	1.00
R9340:Hc	UTSW	2	34986282	missense	probably damaging	0.99
R9396:Hc	UTSW	2	35037603	nonsense	probably null
R9569:Hc	UTSW	2	35036347	missense	probably benign	0.00
R9576:Hc	UTSW	2	34983755	missense	probably benign	0.01
R9706:Hc	UTSW	2	35024184	missense	probably damaging	1.00
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

Posted On

2015-04-16