Mutagenetix > Incidental Mutation

Incidental Mutation 'R8375:Hc'

646607

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026874

Gene Name

hemolytic complement

Synonyms

C5, Hfib2, He, C5a

MMRRC Submission

067743-MU

Accession Numbers

Essential gene?

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

Stock #

R8375 (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 A at 34873731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1668 (N1668Y)

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: N1668Y

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: N1668Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,265,416 (GRCm39)	F3030L	probably benign	Het
Abca13	A	T	11: 9,347,841 (GRCm39)	I3565F	probably damaging	Het
Ak7	A	T	12: 105,708,600 (GRCm39)	I352F	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Anapc7	C	T	5: 122,566,342 (GRCm39)	P84S	probably benign	Het
Apol7a	A	T	15: 77,273,547 (GRCm39)	I305N	probably damaging	Het
Asf1b	C	T	8: 84,694,559 (GRCm39)	R108C	probably damaging	Het
Bicd1	A	T	6: 149,421,989 (GRCm39)	E903D	probably benign	Het
Bpifb3	A	T	2: 153,767,715 (GRCm39)	I263F	probably benign	Het
Cavin3	T	A	7: 105,130,228 (GRCm39)	S195C	probably damaging	Het
Chsy3	C	A	18: 59,312,585 (GRCm39)	R353S	probably damaging	Het
Col5a2	A	G	1: 45,481,890 (GRCm39)	V78A	unknown	Het
Cpxm1	C	T	2: 130,236,146 (GRCm39)	E339K	probably damaging	Het
Cyp26c1	G	T	19: 37,675,660 (GRCm39)	A175S	probably benign	Het
Dnah5	A	T	15: 28,327,489 (GRCm39)	T2069S	probably benign	Het
Ednrb	A	G	14: 104,057,383 (GRCm39)	F393S	probably damaging	Het
Fstl4	T	C	11: 53,053,502 (GRCm39)	S385P	possibly damaging	Het
Gabpb2	G	A	3: 95,112,109 (GRCm39)	S40L	probably damaging	Het
Gabrb1	T	C	5: 72,187,172 (GRCm39)	I155T	probably damaging	Het
Kcnh1	A	G	1: 192,117,124 (GRCm39)	H670R	probably damaging	Het
Krt31	G	A	11: 99,938,603 (GRCm39)	A330V	probably benign	Het
Lrfn2	T	A	17: 49,403,851 (GRCm39)	M658K	possibly damaging	Het
Lrrc1	T	A	9: 77,365,129 (GRCm39)	N184I	probably damaging	Het
Lrrc69	T	C	4: 14,795,994 (GRCm39)	I18V	probably benign	Het
Lvrn	G	A	18: 46,983,289 (GRCm39)	V11M	probably damaging	Het
Map4k4	T	C	1: 40,063,801 (GRCm39)	S1199P	possibly damaging	Het
Mib1	T	C	18: 10,768,233 (GRCm39)		probably null	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Myo18b	C	T	5: 112,908,259 (GRCm39)	V2005I	possibly damaging	Het
Myo6	T	A	9: 80,162,206 (GRCm39)	H314Q	unknown	Het
Nat8f6	A	C	6: 85,785,888 (GRCm39)	M87R	probably benign	Het
Net1	A	G	13: 3,943,458 (GRCm39)		probably benign	Het
Notch4	C	T	17: 34,787,228 (GRCm39)	T294I	possibly damaging	Het
Nrros	A	G	16: 31,966,456 (GRCm39)	L36P	probably damaging	Het
Or8b12i	T	C	9: 20,082,037 (GRCm39)	M277V	probably benign	Het
Or8c9	G	C	9: 38,241,231 (GRCm39)	W113S	probably benign	Het
Padi3	T	C	4: 140,525,407 (GRCm39)	H202R	probably damaging	Het
Pik3ap1	A	T	19: 41,316,538 (GRCm39)	M284K	probably damaging	Het
Prr27	C	A	5: 87,990,710 (GRCm39)	Y107*	probably null	Het
Rab5c	G	T	11: 100,607,609 (GRCm39)	N188K	probably damaging	Het
Rlf	A	T	4: 121,005,532 (GRCm39)	S1259R	probably damaging	Het
Rrm2	T	C	12: 24,762,751 (GRCm39)	V298A	probably damaging	Het
Rtn4rl2	A	T	2: 84,711,033 (GRCm39)	L77H	possibly damaging	Het
Skint4	A	G	4: 111,975,173 (GRCm39)	I44M	probably damaging	Het
Spaca7	T	C	8: 12,648,998 (GRCm39)	I164T	probably benign	Het
Spg7	A	G	8: 123,800,568 (GRCm39)	S153G	probably damaging	Het
Spink5	T	C	18: 44,123,786 (GRCm39)	S358P	probably benign	Het
Stx5a	T	C	19: 8,732,462 (GRCm39)	M377T	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttc41	A	G	10: 86,599,844 (GRCm39)	D1048G	probably damaging	Het
Ttn	A	T	2: 76,557,509 (GRCm39)	W29862R	probably damaging	Het
Vmn1r203	T	G	13: 22,709,154 (GRCm39)	*312G	probably null	Het
Vmn2r74	T	G	7: 85,601,914 (GRCm39)	T575P	possibly damaging	Het
Zfp14	A	T	7: 29,738,579 (GRCm39)	N135K	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
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
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'- ATCCATTTCACAAAGTCGTAACTC -3'
(R):5'- TCTGTAAAGAGCTGGCCTTC -3'

Sequencing Primer
(F):5'- CAAAGTCGTAACTCATCAGCTTGTGC -3'
(R):5'- ACTCCAATTCCAGGGGATTG -3'

Posted On

2020-09-02