Mutagenetix > Incidental Mutation

Incidental Mutation 'R3735:C8a'

270048

Institutional Source

Beutler Lab

Gene Symbol

C8a

Ensembl Gene

ENSMUSG00000035031

Gene Name

complement component 8, alpha polypeptide

Synonyms

MMRRC Submission

040722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3735 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104672876-104733595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104674812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 509 (E509G)

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: E553G

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: E553G

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: E553G

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: E553G

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: E509G

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: E509G

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	G	4: 103,123,603 (GRCm39)	E90Q	probably damaging	Het
Acadl	G	A	1: 66,892,448 (GRCm39)	A125V	probably benign	Het
Acot12	T	A	13: 91,932,465 (GRCm39)	I487N	probably benign	Het
Acox3	A	G	5: 35,768,497 (GRCm39)	K686R	probably benign	Het
Adam17	T	C	12: 21,375,413 (GRCm39)	D802G	probably benign	Het
Aoc3	A	T	11: 101,223,045 (GRCm39)	D427V	probably damaging	Het
Bivm	C	T	1: 44,165,594 (GRCm39)	H15Y	probably benign	Het
Ccdc158	A	C	5: 92,780,283 (GRCm39)	L930R	possibly damaging	Het
Cdca7	T	A	2: 72,314,209 (GRCm39)		probably null	Het
Cep170b	A	T	12: 112,707,438 (GRCm39)	I395F	probably damaging	Het
Champ1	T	C	8: 13,928,735 (GRCm39)	S298P	probably damaging	Het
Cimip2c	A	T	5: 30,639,442 (GRCm39)	Y123F	probably benign	Het
Cyp2j8	T	A	4: 96,332,836 (GRCm39)	R503S	probably damaging	Het
Dcaf10	C	T	4: 45,348,117 (GRCm39)	T191I	probably benign	Het
Dido1	A	G	2: 180,325,829 (GRCm39)		probably benign	Het
Dnah7b	C	T	1: 46,339,035 (GRCm39)	T3361I	probably benign	Het
Dync1h1	G	A	12: 110,598,109 (GRCm39)	V1767I	probably benign	Het
Eml5	G	A	12: 98,822,248 (GRCm39)	T721I	possibly damaging	Het
F8	G	A	X: 74,254,981 (GRCm39)	P2138S	probably damaging	Het
Fam169b	G	T	7: 68,000,049 (GRCm39)	R198S	probably damaging	Het
Gm7694	A	G	1: 170,130,330 (GRCm39)	S23P	probably damaging	Het
Grk3	T	A	5: 113,101,697 (GRCm39)	T248S	probably benign	Het
Helq	T	G	5: 100,938,054 (GRCm39)	D464A	possibly damaging	Het
Ido2	C	T	8: 25,025,209 (GRCm39)	V273M	probably damaging	Het
Il12rb1	T	C	8: 71,269,862 (GRCm39)	L518P	probably damaging	Het
Irag2	G	A	6: 145,106,596 (GRCm39)		probably benign	Het
Kansl1l	A	G	1: 66,840,409 (GRCm39)	V297A	possibly damaging	Het
Kcnj10	A	G	1: 172,197,533 (GRCm39)	Y349C	possibly damaging	Het
Krt18	A	G	15: 101,936,936 (GRCm39)	T75A	probably benign	Het
Lrp4	A	T	2: 91,328,716 (GRCm39)	I1539F	probably damaging	Het
Map3k6	T	C	4: 132,973,683 (GRCm39)	V458A	probably benign	Het
Med12l	T	A	3: 58,998,916 (GRCm39)	H614Q	probably damaging	Het
Med13	A	C	11: 86,170,484 (GRCm39)	M1850R	probably benign	Het
Mfsd13a	A	G	19: 46,356,767 (GRCm39)	Y256C	probably damaging	Het
Mogs	C	A	6: 83,093,757 (GRCm39)	T242K	possibly damaging	Het
Myo9b	T	C	8: 71,801,241 (GRCm39)	V1133A	probably benign	Het
Myom2	A	T	8: 15,119,676 (GRCm39)	H144L	probably benign	Het
Ncapg	A	T	5: 45,853,469 (GRCm39)	Q906L	probably benign	Het
Nkx1-1	C	T	5: 33,591,074 (GRCm39)	V83I	unknown	Het
Npy4r	T	A	14: 33,869,226 (GRCm39)	T21S	probably benign	Het
Nup88	A	G	11: 70,847,018 (GRCm39)	S331P	probably damaging	Het
Olr1	T	A	6: 129,476,838 (GRCm39)		probably benign	Het
Or4k44	T	A	2: 111,368,241 (GRCm39)	H131L	probably damaging	Het
Osmr	A	T	15: 6,851,561 (GRCm39)	Y656N	probably damaging	Het
Otogl	A	T	10: 107,735,390 (GRCm39)	Y131*	probably null	Het
Pgr	G	A	9: 8,901,534 (GRCm39)	G356S	probably damaging	Het
Prdm2	T	C	4: 142,860,929 (GRCm39)	E787G	probably damaging	Het
Prpf18	A	G	2: 4,648,484 (GRCm39)	I114T	probably benign	Het
R3hdm2	T	A	10: 127,300,879 (GRCm39)	I280N	probably benign	Het
Rims4	T	C	2: 163,705,905 (GRCm39)	D243G	possibly damaging	Het
Rmnd5a	T	C	6: 71,373,846 (GRCm39)	D316G	possibly damaging	Het
Rpap2	T	C	5: 107,803,017 (GRCm39)		probably benign	Het
Sdr16c5	G	A	4: 4,005,614 (GRCm39)	T240I	probably benign	Het
Shroom3	T	C	5: 93,112,303 (GRCm39)	V1888A	possibly damaging	Het
Slc36a4	T	A	9: 15,649,569 (GRCm39)	Y466*	probably null	Het
Slco3a1	A	G	7: 74,154,245 (GRCm39)	I80T	probably damaging	Het
Sptlc2	G	A	12: 87,388,339 (GRCm39)	A381V	probably benign	Het
Stam	A	T	2: 14,133,823 (GRCm39)	Q190L	probably damaging	Het
Suclg2	T	A	6: 95,474,677 (GRCm39)	I363F	probably damaging	Het
Tacstd2	A	G	6: 67,511,843 (GRCm39)	V283A	probably damaging	Het
Tln1	G	T	4: 43,549,370 (GRCm39)	A616E	probably damaging	Het
Trdmt1	A	T	2: 13,524,684 (GRCm39)	F257Y	possibly damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,792,511 (GRCm39)		probably null	Het
Trps1	A	G	15: 50,709,456 (GRCm39)	I298T	possibly damaging	Het
Tti2	T	C	8: 31,645,925 (GRCm39)	L413P	probably damaging	Het
Utrn	A	G	10: 12,354,228 (GRCm39)	V343A	probably damaging	Het
Vwf	G	T	6: 125,565,576 (GRCm39)	W288L	probably damaging	Het
Zfp629	T	A	7: 127,211,950 (GRCm39)		probably benign	Het
Zfp873	G	A	10: 81,897,015 (GRCm39)	S582N	probably benign	Het
Zfp979	A	G	4: 147,697,939 (GRCm39)	Y257H	possibly damaging	Het
Zfpm1	G	A	8: 123,050,475 (GRCm39)	C117Y	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
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
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'- GTTTGCATTTACTCAGAGCAGC -3'
(R):5'- TGCAAGCACAGAGGTCTTG -3'

Sequencing Primer
(F):5'- GCAGCAAGCAGTCCTAACCAG -3'
(R):5'- CAAGCACAGAGGTCTTGGTTTGC -3'

Posted On

2015-03-18