Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:C8a'

161524

Institutional Source

Beutler Lab

Gene Symbol

C8a

Ensembl Gene

ENSMUSG00000035031

Gene Name

complement component 8, alpha polypeptide

Synonyms

MMRRC Submission

039497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104672876-104733595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104685275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 323 (T323S)

Ref Sequence

ENSEMBL: ENSMUSP00000102420 (fasta)

Gene Model

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

AlphaFold

Q8K182

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048947
AA Change: T367S

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: T367S

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: T367S

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: T367S

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

possibly damaging
Transcript: ENSMUST00000106808
AA Change: T323S

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: T323S

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

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,833 (GRCm39)		probably benign	Het
Adamts7	T	A	9: 90,070,823 (GRCm39)	I648N	probably damaging	Het
Akap13	T	A	7: 75,385,526 (GRCm39)	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,507,159 (GRCm39)	H314L	probably damaging	Het
Anxa3	T	A	5: 96,976,549 (GRCm39)		probably null	Het
Apob	T	G	12: 8,036,165 (GRCm39)	F298V	probably benign	Het
Atp8a2	A	C	14: 60,097,772 (GRCm39)		probably benign	Het
Atp8b5	A	T	4: 43,334,313 (GRCm39)	T360S	probably damaging	Het
BC051665	A	T	13: 60,932,555 (GRCm39)	N43K	probably benign	Het
Bicral	T	A	17: 47,112,650 (GRCm39)	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,339,011 (GRCm39)	D227G	probably damaging	Het
Cep89	T	C	7: 35,117,636 (GRCm39)		probably benign	Het
Cercam	G	T	2: 29,770,652 (GRCm39)	V408L	probably benign	Het
CN725425	G	A	15: 91,123,158 (GRCm39)	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,532,835 (GRCm39)	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,865 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,600,268 (GRCm39)	I287F	probably damaging	Het
Defb10	A	T	8: 22,348,944 (GRCm39)	M1L	probably benign	Het
Dscam	C	A	16: 96,409,274 (GRCm39)	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,595,717 (GRCm39)	I640N	possibly damaging	Het
Duox2	G	C	2: 122,112,232 (GRCm39)	P1318R	probably benign	Het
Dzip3	T	C	16: 48,765,985 (GRCm39)	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,824,462 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,102,652 (GRCm39)	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,266,360 (GRCm39)	S9P	probably benign	Het
Etaa1	A	T	11: 17,897,201 (GRCm39)	D305E	probably benign	Het
Fads6	C	A	11: 115,188,235 (GRCm39)	R23L	probably benign	Het
Flrt2	T	C	12: 95,746,979 (GRCm39)	V439A	probably damaging	Het
Galm	A	C	17: 80,452,614 (GRCm39)	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,744,303 (GRCm39)		probably benign	Het
Irf7	T	C	7: 140,843,935 (GRCm39)	T246A	probably damaging	Het
Kif28	A	G	1: 179,532,697 (GRCm39)	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,385 (GRCm39)	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,059,469 (GRCm39)	H252R	probably benign	Het
Lzts1	G	T	8: 69,591,638 (GRCm39)	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,403,461 (GRCm39)	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,160,075 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myh3	A	G	11: 66,978,103 (GRCm39)	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,262,328 (GRCm39)		probably benign	Het
Npc1	T	A	18: 12,328,106 (GRCm39)	M1068L	probably benign	Het
Nup58	T	A	14: 60,469,992 (GRCm39)		probably benign	Het
Or10c1	T	C	17: 37,522,595 (GRCm39)	T50A	probably benign	Het
Or4k40	A	T	2: 111,250,438 (GRCm39)	I286N	probably damaging	Het
Or8b1	A	T	9: 38,399,939 (GRCm39)	I205F	probably benign	Het
Or8s16	T	C	15: 98,211,068 (GRCm39)	Y121C	probably damaging	Het
Parp2	T	G	14: 51,056,732 (GRCm39)		probably null	Het
Ppp4r4	T	C	12: 103,564,504 (GRCm39)	V9A	probably damaging	Het
Ptprc	T	A	1: 138,000,050 (GRCm39)	D856V	probably damaging	Het
Ptpru	T	A	4: 131,535,580 (GRCm39)	T466S	probably benign	Het
Rhob	A	G	12: 8,549,325 (GRCm39)	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,378,510 (GRCm39)	S775R	probably benign	Het
Slit2	T	G	5: 48,395,725 (GRCm39)	D709E	probably damaging	Het
Smok2b	C	G	17: 13,454,390 (GRCm39)	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,648,780 (GRCm39)	D158V	probably damaging	Het
Syne2	T	C	12: 75,993,489 (GRCm39)	I2087T	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tecta	T	A	9: 42,243,778 (GRCm39)	I2025F	probably damaging	Het
Themis	T	C	10: 28,658,131 (GRCm39)	V386A	probably damaging	Het
Ubr5	G	A	15: 38,015,168 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,033,446 (GRCm39)	I134N	probably damaging	Het
Vegfa	G	A	17: 46,336,418 (GRCm39)	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,692,623 (GRCm39)	K78*	probably null	Het
Vmn2r82	A	T	10: 79,215,201 (GRCm39)	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,198,407 (GRCm39)	S315P	probably benign	Het
Zfp566	T	C	7: 29,777,344 (GRCm39)	Y279C	probably damaging	Het
Zmym2	T	C	14: 57,180,784 (GRCm39)	Y899H	probably 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
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'- ACTTGAAATGGAATCCGCTGGAGG -3'
(R):5'- AATCTAGAGCCGCTTGTGCCCATC -3'

Sequencing Primer
(F):5'- ATTGCCCGAATGATGTGTCC -3'
(R):5'- TTGTGCCCATCCCCCAC -3'

Posted On

2014-03-14