Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:C8a'

32747

Institutional Source

Beutler Lab

Gene Symbol

C8a

Ensembl Gene

ENSMUSG00000035031

Gene Name

complement component 8, alpha polypeptide

Synonyms

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0045 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

104672876-104733595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104684012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 368 (K368E)

Ref Sequence

ENSEMBL: ENSMUSP00000102420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048947] [ENSMUST00000064873] [ENSMUST00000106808]

AlphaFold

Q8K182

Predicted Effect

probably benign
Transcript: ENSMUST00000048947
AA Change: K412E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: K412E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
TSP1	41	91	1.33e-1	SMART
LDLa	95	132	2.07e-11	SMART
MACPF	288	492	5.26e-58	SMART
Blast:EGF	496	529	3e-13	BLAST
Blast:TSP1	545	573	3e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000064873
AA Change: K412E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: K412E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
TSP1	41	91	1.33e-1	SMART
LDLa	95	132	2.07e-11	SMART
MACPF	288	492	5.26e-58	SMART
Blast:EGF	496	529	4e-13	BLAST
TSP1	545	587	1.86e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106808
AA Change: K368E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: K368E

Domain	Start	End	E-Value	Type
Blast:TSP1	4	47	3e-15	BLAST
LDLa	51	88	2.07e-11	SMART
MACPF	244	448	5.26e-58	SMART
Blast:EGF	452	485	4e-13	BLAST
Blast:TSP1	501	543	3e-22	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152146

Meta Mutation Damage Score

0.1378

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: This gene encodes the alpha subunit of complement component C8 that participates in the assembly of the complement membrane attack complex. The encoded preproprotein undergoes proteolytic processing to generate the alpha subunit, which associates with the beta and gamma subunits to form a trimeric complement component, C8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. This gene is located adjacent to the gene encoding the beta subunit. [provided by RefSeq, Oct 2015]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mavs	G	A	2: 131,080,751 (GRCm39)	R13Q	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Nnat	A	T	2: 157,402,408 (GRCm39)		probably benign	Het
Or14c40	T	C	7: 86,313,548 (GRCm39)	L226S	possibly damaging	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or5h17	G	A	16: 58,820,854 (GRCm39)	D269N	probably benign	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Slc25a13	A	T	6: 6,109,277 (GRCm39)	S362T	probably benign	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	Het
Wdr31	G	T	4: 62,382,270 (GRCm39)	L4I	possibly damaging	Het

Other mutations in C8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:C8a	APN	4	104,722,642 (GRCm39)	intron	probably benign
IGL01326:C8a	APN	4	104,713,617 (GRCm39)	missense	probably damaging	1.00
IGL01339:C8a	APN	4	104,685,182 (GRCm39)	missense	probably benign	0.00
IGL01809:C8a	APN	4	104,703,139 (GRCm39)	missense	probably benign	0.06
IGL01843:C8a	APN	4	104,719,808 (GRCm39)	nonsense	probably null
IGL01988:C8a	APN	4	104,683,891 (GRCm39)	missense	probably damaging	1.00
IGL02187:C8a	APN	4	104,719,933 (GRCm39)	missense	probably damaging	1.00
IGL02430:C8a	APN	4	104,674,719 (GRCm39)	missense	probably damaging	0.97
IGL02537:C8a	APN	4	104,703,148 (GRCm39)	missense	probably damaging	1.00
derogation	UTSW	4	104,685,275 (GRCm39)	missense	possibly damaging	0.50
insult	UTSW	4	104,685,236 (GRCm39)	missense	probably benign	0.00
R0045:C8a	UTSW	4	104,684,012 (GRCm39)	missense	probably benign	0.00
R0367:C8a	UTSW	4	104,719,791 (GRCm39)	critical splice donor site	probably null
R0632:C8a	UTSW	4	104,713,689 (GRCm39)	missense	probably damaging	1.00
R1013:C8a	UTSW	4	104,685,236 (GRCm39)	missense	probably benign	0.00
R1442:C8a	UTSW	4	104,685,275 (GRCm39)	missense	possibly damaging	0.50
R1902:C8a	UTSW	4	104,713,798 (GRCm39)	critical splice acceptor site	probably null
R2969:C8a	UTSW	4	104,710,974 (GRCm39)	missense	probably damaging	0.97
R3735:C8a	UTSW	4	104,674,812 (GRCm39)	missense	probably benign	0.43
R3736:C8a	UTSW	4	104,674,812 (GRCm39)	missense	probably benign	0.43
R4245:C8a	UTSW	4	104,733,543 (GRCm39)	missense	probably benign	0.00
R4707:C8a	UTSW	4	104,713,618 (GRCm39)	missense	probably damaging	1.00
R4812:C8a	UTSW	4	104,719,788 (GRCm39)	splice site	probably null
R5221:C8a	UTSW	4	104,703,122 (GRCm39)	missense	probably damaging	1.00
R5279:C8a	UTSW	4	104,703,185 (GRCm39)	missense	probably damaging	1.00
R5461:C8a	UTSW	4	104,673,042 (GRCm39)	utr 3 prime	probably benign
R5881:C8a	UTSW	4	104,711,129 (GRCm39)	missense	probably damaging	0.99
R6039:C8a	UTSW	4	104,703,139 (GRCm39)	missense	probably benign	0.00
R6039:C8a	UTSW	4	104,703,139 (GRCm39)	missense	probably benign	0.00
R6191:C8a	UTSW	4	104,703,100 (GRCm39)	missense	probably benign	0.00
R6626:C8a	UTSW	4	104,703,164 (GRCm39)	missense	probably benign	0.01
R7438:C8a	UTSW	4	104,718,626 (GRCm39)	missense	probably damaging	0.97
R7471:C8a	UTSW	4	104,674,822 (GRCm39)	missense	probably benign	0.01
R7514:C8a	UTSW	4	104,703,247 (GRCm39)	missense	possibly damaging	0.94
R7596:C8a	UTSW	4	104,711,064 (GRCm39)	missense	possibly damaging	0.49
R8947:C8a	UTSW	4	104,679,326 (GRCm39)	missense	probably damaging	1.00
R9039:C8a	UTSW	4	104,679,200 (GRCm39)	missense	probably benign
R9248:C8a	UTSW	4	104,703,199 (GRCm39)	missense	probably damaging	1.00
X0012:C8a	UTSW	4	104,683,979 (GRCm39)	missense	probably damaging	1.00
X0019:C8a	UTSW	4	104,674,783 (GRCm39)	missense	probably damaging	1.00
Z1176:C8a	UTSW	4	104,719,883 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGAAATGATCTGCTCGGCTTCAC -3'
(R):5'- GGATGAACTACCGTTGACCTTCCC -3'

Sequencing Primer
(F):5'- ATGGACGTAGGGTTTCTTCAAC -3'
(R):5'- AGCCATTTATCACCCATGTTGG -3'

Posted On

2013-05-09