Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:C8a'

59693

Institutional Source

Beutler Lab

Gene Symbol

C8a

Ensembl Gene

ENSMUSG00000035031

Gene Name

complement component 8, alpha polypeptide

Synonyms

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104815679-104876398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104856492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 147 (D147G)

Ref Sequence

ENSEMBL: ENSMUSP00000102420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048947] [ENSMUST00000064873] [ENSMUST00000106808] [ENSMUST00000179793]

AlphaFold

Q8K182

Predicted Effect

probably damaging
Transcript: ENSMUST00000048947
AA Change: D191G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: D191G

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 damaging
Transcript: ENSMUST00000064873
AA Change: D191G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: D191G

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 damaging
Transcript: ENSMUST00000106808
AA Change: D147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: D147G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179793

Meta Mutation Damage Score

0.2084

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	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
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
R6191:C8a	UTSW	4	104845903	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
R8947:C8a	UTSW	4	104822129	missense	probably damaging	1.00
R9039:C8a	UTSW	4	104822003	missense	probably benign
R9248:C8a	UTSW	4	104846002	missense	probably damaging	1.00
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'- GCCTTCAGTCACCTCAAACCCTATG -3'
(R):5'- CCAGATGCTCTGGCTAACAGCTAC -3'

Sequencing Primer
(F):5'- CCTATGGAAAATAAAAGCCTTCAGAG -3'
(R):5'- ggttctctacctgtaagtcctg -3'

Posted On

2013-07-11