Mutagenetix > Incidental Mutation

Incidental Mutation 'R7596:Hc'

587703

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026874

Gene Name

hemolytic complement

Synonyms

C5, Hfib2, He, C5a

MMRRC Submission

045671-MU

Accession Numbers

Essential gene?

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

Stock #

R7596 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34873343-34951450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34890859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1319 (V1319A)

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 damaging
Transcript: ENSMUST00000028233
AA Change: V1319A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: V1319A

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

95% (53/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	A	16: 88,556,224 (GRCm39)	S146N	probably damaging	Het
Adam26b	A	C	8: 43,973,237 (GRCm39)	D588E	probably benign	Het
Ankrd13b	C	A	11: 77,363,140 (GRCm39)	R547L	probably benign	Het
Bckdk	G	T	7: 127,505,572 (GRCm39)	E232*	probably null	Het
C8a	T	C	4: 104,711,064 (GRCm39)	K244E	possibly damaging	Het
Cad	A	G	5: 31,226,392 (GRCm39)	I1145V	probably benign	Het
Cd28	C	A	1: 60,802,487 (GRCm39)	H135Q	possibly damaging	Het
Ceacam19	A	G	7: 19,615,812 (GRCm39)	I209T	possibly damaging	Het
Cecr2	A	G	6: 120,739,167 (GRCm39)	N1298S	probably benign	Het
Cpne5	C	T	17: 29,445,191 (GRCm39)	D38N	possibly damaging	Het
Dcn	A	T	10: 97,345,871 (GRCm39)	I228F	probably damaging	Het
Gm5591	T	G	7: 38,219,608 (GRCm39)	I422L	probably benign	Het
Gnptab	T	G	10: 88,279,232 (GRCm39)	F1201V	probably damaging	Het
Htr3b	T	C	9: 48,847,361 (GRCm39)	N385D	probably benign	Het
Ikbip	A	T	10: 90,918,891 (GRCm39)		probably benign	Het
Kcnk1	T	C	8: 126,722,350 (GRCm39)	L51P	probably damaging	Het
Lcn2	A	G	2: 32,275,721 (GRCm39)	Y160H	probably damaging	Het
Lig1	T	C	7: 13,039,923 (GRCm39)	S712P	probably damaging	Het
Lrrc19	T	G	4: 94,531,592 (GRCm39)	M7L	probably benign	Het
Lrrc4b	C	T	7: 44,111,310 (GRCm39)	T394M	probably damaging	Het
Map7	A	G	10: 20,153,927 (GRCm39)	N681S	unknown	Het
Mdga2	A	T	12: 66,552,897 (GRCm39)	M912K	probably damaging	Het
Mlst8	C	T	17: 24,697,084 (GRCm39)		probably null	Het
Ms4a13	A	T	19: 11,147,329 (GRCm39)	V195D	unknown	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Nr4a2	G	C	2: 56,998,243 (GRCm39)	F574L	probably damaging	Het
Nup107	T	C	10: 117,613,065 (GRCm39)	N288D	probably damaging	Het
Or11g26	A	T	14: 50,753,002 (GRCm39)	T114S	probably benign	Het
Or13a1	T	A	6: 116,471,158 (GRCm39)	V196D	probably benign	Het
Or5b3	C	T	19: 13,388,511 (GRCm39)	H193Y	probably benign	Het
Pcolce	A	G	5: 137,605,087 (GRCm39)		probably null	Het
Pik3cg	A	G	12: 32,254,740 (GRCm39)	F416L	probably damaging	Het
Podnl1	A	G	8: 84,853,024 (GRCm39)	I65V		Het
Prpf8	T	C	11: 75,382,330 (GRCm39)	F387S	probably benign	Het
Rev3l	A	G	10: 39,697,534 (GRCm39)	Y677C	probably damaging	Het
Rhpn1	A	G	15: 75,584,162 (GRCm39)	T430A	probably benign	Het
Rnf187	T	C	11: 58,829,241 (GRCm39)	R124G	possibly damaging	Het
Rpl9-ps6	C	T	19: 32,443,783 (GRCm39)	V57I	probably benign	Het
Samhd1	A	T	2: 156,943,754 (GRCm39)	F587I	probably damaging	Het
Slc30a6	A	G	17: 74,722,664 (GRCm39)	T244A	probably benign	Het
Slc35f4	T	A	14: 49,543,666 (GRCm39)	Y310F	probably damaging	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Smc5	A	C	19: 23,191,533 (GRCm39)	V889G	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spopfm2	T	A	3: 94,083,737 (GRCm39)	T25S	probably benign	Het
Tango2	A	G	16: 18,120,574 (GRCm39)	V229A	probably damaging	Het
Tnks1bp1	A	G	2: 84,893,057 (GRCm39)	T995A	probably benign	Het
Trio	A	T	15: 27,749,912 (GRCm39)	I2263N	probably damaging	Het
Ttc28	T	C	5: 111,427,990 (GRCm39)	F1829L	probably damaging	Het
Ttn	A	G	2: 76,638,923 (GRCm39)	S13920P	probably damaging	Het
Ube2b	T	C	11: 51,877,570 (GRCm39)	N133S	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Ubtf	G	A	11: 102,197,533 (GRCm39)	T705M	unknown	Het
Vmn2r109	A	T	17: 20,760,942 (GRCm39)	M805K	probably damaging	Het
Vsig10	T	C	5: 117,472,848 (GRCm39)	V147A	possibly damaging	Het
Zbtb16	C	A	9: 48,743,704 (GRCm39)	V203L	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
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
R7582:Hc	UTSW	2	34,881,278 (GRCm39)	missense	possibly damaging	0.70
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'- CTCAACACTTGTTTAAGCAGCG -3'
(R):5'- CACATAAGTGTTTAGGAGGCTGAAG -3'

Sequencing Primer
(F):5'- CTTGTTTAAGCAGCGAATAAAAGCAC -3'
(R):5'- AGTCTATGTATCAGAATCCCGTTC -3'

Posted On

2019-10-24