Mutagenetix > Incidental Mutations

Incidental Mutation 'R6191:C8a'

502549

Institutional Source

Beutler Lab

Gene Symbol

C8a

Ensembl Gene

ENSMUSG00000035031

Gene Name

complement component 8, alpha polypeptide

Synonyms

MMRRC Submission

044331-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104815679-104876398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104845903 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 363 (K363R)

Ref Sequence

ENSEMBL: ENSMUSP00000047606 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048947
AA Change: K363R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: K363R

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: K363R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: K363R

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: K319R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: K319R

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 56,002,523	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,245,538	K334N	probably benign	Het
Ano6	T	C	15: 95,948,499		probably null	Het
Ap1m2	C	A	9: 21,299,305	V343F	probably benign	Het
Apol6	T	C	15: 77,055,898	V307A	probably benign	Het
Arsi	C	A	18: 60,912,472	A78E	probably damaging	Het
B2m	A	T	2: 122,150,915	N37I	possibly damaging	Het
Ccdc117	C	A	11: 5,534,242		probably null	Het
Ccdc154	C	A	17: 25,167,971	Q325K	probably damaging	Het
Cd300e	A	T	11: 115,054,533	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,317,393	P673Q	probably damaging	Het
Csn2	A	G	5: 87,696,026		probably null	Het
Ctnna1	T	C	18: 35,174,355	V135A	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dnah12	A	G	14: 26,710,257	H410R	probably benign	Het
Dock2	C	T	11: 34,231,652	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,177,348	N526D	unknown	Het
Frem2	T	C	3: 53,655,280	H602R	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Grina	T	C	15: 76,249,018	V262A	probably damaging	Het
Gse1	G	A	8: 120,553,803		probably null	Het
H2-Oa	C	A	17: 34,093,868	Q40K	probably damaging	Het
Hfm1	C	A	5: 106,886,553	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,458,746	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,889,203	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itpr2	A	G	6: 146,328,335	V1221A	probably benign	Het
K230010J24Rik	T	C	15: 76,046,369		probably null	Het
Kdm6b	T	C	11: 69,406,758	N285S	probably benign	Het
Klk1b1	T	A	7: 43,970,657	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,826,828		probably benign	Het
Lama5	T	A	2: 180,180,611	T2890S	probably damaging	Het
Lama5	T	C	2: 180,185,959	D2170G	probably damaging	Het
Lsm2	T	A	17: 34,982,155		probably benign	Het
Map3k5	G	T	10: 20,023,669	C232F	probably damaging	Het
Mapk9	T	G	11: 49,863,556	D45E	probably damaging	Het
Mpnd	T	C	17: 56,012,482	V315A	possibly damaging	Het
Msh2	A	G	17: 87,723,472	I926V	probably benign	Het
Mtcl1	C	T	17: 66,343,526	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,627,990		probably null	Het
Neo1	T	C	9: 58,889,029	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,570,859	S259G	probably benign	Het
Nkain4	G	A	2: 180,936,003	P186L	probably damaging	Het
Nkain4	G	A	2: 180,936,004	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,457	R73*	probably null	Het
Nr5a2	T	C	1: 136,890,798	D330G	probably damaging	Het
Nup54	A	G	5: 92,424,294	L299P	probably damaging	Het
Olfr259	A	G	2: 87,107,952	V145A	probably damaging	Het
Olfr56	T	C	11: 49,135,050	L286P	probably damaging	Het
Pcdhb8	T	A	18: 37,356,226	V319E	probably benign	Het
Pcsk6	T	A	7: 65,929,127	D129E	probably benign	Het
Pld5	G	A	1: 175,970,534	T433I	probably benign	Het
Plin1	A	T	7: 79,721,599	L459H	probably benign	Het
Psd4	T	C	2: 24,394,487	V121A	probably damaging	Het
Pxdn	A	T	12: 29,982,717	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,484,515	S569P	probably damaging	Het
Rfng	T	A	11: 120,782,690	T202S	probably damaging	Het
Robo1	T	C	16: 72,933,808	S266P	probably benign	Het
Sema3c	G	T	5: 17,653,806	V68L	probably damaging	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Slfn8	A	G	11: 83,016,800	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,838,052	D144G	probably damaging	Het
St7l	T	G	3: 104,868,033	F75C	probably damaging	Het
Stard10	A	G	7: 101,343,261	I145V	probably damaging	Het
Tekt3	C	T	11: 63,078,173	A242V	probably damaging	Het
Tex44	A	G	1: 86,426,584		probably benign	Het
Thg1l	T	C	11: 45,954,161	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,346,287	I67N	probably damaging	Het
Ttn	G	A	2: 76,847,426		probably benign	Het
Ube4a	A	T	9: 44,949,753	L253*	probably null	Het
Uggt1	A	T	1: 36,162,208	N1150K	probably damaging	Het
Uhrf1bp1l	G	T	10: 89,805,318	G784C	possibly damaging	Het
Ush2a	T	A	1: 188,263,101	L23*	probably null	Het
Usp22	T	A	11: 61,174,776	N37I	probably benign	Het
Usp53	T	A	3: 122,949,741	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,415,281	K6E	probably benign	Het
Vps13d	C	T	4: 145,149,348	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,114,531	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,264,330	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,990,170		probably benign	Het
Zfp345	A	C	2: 150,473,090	Y176D	probably benign	Het
Zfp598	T	C	17: 24,677,876	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,502,994	D10G	probably damaging	Het
Zmat4	T	G	8: 23,902,067	M13R	probably damaging	Het

Other mutations in C8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:C8a	APN	4	104865445	intron	probably benign
IGL01326:C8a	APN	4	104856420	missense	probably damaging	1.00
IGL01339:C8a	APN	4	104827985	missense	probably benign	0.00
IGL01809:C8a	APN	4	104845942	missense	probably benign	0.06
IGL01843:C8a	APN	4	104862611	nonsense	probably null
IGL01988:C8a	APN	4	104826694	missense	probably damaging	1.00
IGL02187:C8a	APN	4	104862736	missense	probably damaging	1.00
IGL02430:C8a	APN	4	104817522	missense	probably damaging	0.97
IGL02537:C8a	APN	4	104845951	missense	probably damaging	1.00
derogation	UTSW	4	104828078	missense	possibly damaging	0.50
insult	UTSW	4	104828039	missense	probably benign	0.00
R0045:C8a	UTSW	4	104826815	missense	probably benign	0.00
R0045:C8a	UTSW	4	104826815	missense	probably benign	0.00
R0367:C8a	UTSW	4	104862594	critical splice donor site	probably null
R0632:C8a	UTSW	4	104856492	missense	probably damaging	1.00
R1013:C8a	UTSW	4	104828039	missense	probably benign	0.00
R1442:C8a	UTSW	4	104828078	missense	possibly damaging	0.50
R1902:C8a	UTSW	4	104856601	critical splice acceptor site	probably null
R2969:C8a	UTSW	4	104853777	missense	probably damaging	0.97
R3735:C8a	UTSW	4	104817615	missense	probably benign	0.43
R3736:C8a	UTSW	4	104817615	missense	probably benign	0.43
R4245:C8a	UTSW	4	104876346	missense	probably benign	0.00
R4707:C8a	UTSW	4	104856421	missense	probably damaging	1.00
R4812:C8a	UTSW	4	104862591	splice site	probably null
R5221:C8a	UTSW	4	104845925	missense	probably damaging	1.00
R5279:C8a	UTSW	4	104845988	missense	probably damaging	1.00
R5461:C8a	UTSW	4	104815845	utr 3 prime	probably benign
R5881:C8a	UTSW	4	104853932	missense	probably damaging	0.99
R6039:C8a	UTSW	4	104845942	missense	probably benign	0.00
R6039:C8a	UTSW	4	104845942	missense	probably benign	0.00
R6626:C8a	UTSW	4	104845967	missense	probably benign	0.01
R7438:C8a	UTSW	4	104861429	missense	probably damaging	0.97
R7471:C8a	UTSW	4	104817625	missense	probably benign	0.01
R7514:C8a	UTSW	4	104846050	missense	possibly damaging	0.94
R7596:C8a	UTSW	4	104853867	missense	possibly damaging	0.49
X0012:C8a	UTSW	4	104826782	missense	probably damaging	1.00
X0019:C8a	UTSW	4	104817586	missense	probably damaging	1.00
Z1176:C8a	UTSW	4	104862686	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTAGACACTAACAGCATGC -3'
(R):5'- ACAGACTGCACAGTTTAAGATGAG -3'

Sequencing Primer
(F):5'- GGAAAACTATCCCCTTGGTAGGATC -3'
(R):5'- TGAGAAGGAACAATATTGTGCTG -3'

Posted On

2018-02-27