Mutagenetix > Incidental Mutation

Incidental Mutation 'R4845:C8b'

372100

Institutional Source

Beutler Lab

Gene Symbol

C8b

Ensembl Gene

ENSMUSG00000029656

Gene Name

complement component 8, beta polypeptide

Synonyms

4930439B20Rik

MMRRC Submission

042458-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104623514-104661745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104649009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 308 (V308F)

Ref Sequence

ENSEMBL: ENSMUSP00000066940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031663] [ENSMUST00000065072]

AlphaFold

Q8BH35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031663
AA Change: V374F

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: V374F

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
TSP1	66	116	3.17e-7	SMART
LDLa	120	156	1.78e-10	SMART
MACPF	290	497	3.6e-65	SMART
Blast:EGF	501	534	9e-12	BLAST
TSP1	547	584	1.17e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065072
AA Change: V308F

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: V308F

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
TSP1	66	116	3.17e-7	SMART
LDLa	120	156	1.78e-10	SMART
MACPF	224	431	3.6e-65	SMART
Blast:EGF	435	468	1e-11	BLAST
TSP1	481	518	1.17e-1	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the beta 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 beta subunit, which associates with the alpha 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 alpha subunit. [provided by RefSeq, Oct 2015]
PHENOTYPE: In a controlled microbial environment ("clean") laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	C	T	17: 31,333,057 (GRCm39)	S600F	possibly damaging	Het
Arhgap21	T	A	2: 20,885,998 (GRCm39)	N393I	probably damaging	Het
Atp5pf	T	A	16: 84,628,365 (GRCm39)	I6F	possibly damaging	Het
B4galt6	A	G	18: 20,821,517 (GRCm39)	L337S	probably benign	Het
Cables1	A	G	18: 12,077,545 (GRCm39)	R558G	probably damaging	Het
Chmp2b	T	A	16: 65,347,862 (GRCm39)	Q38L	probably damaging	Het
Clca3b	A	T	3: 144,531,031 (GRCm39)	I773K	probably benign	Het
Cnmd	T	C	14: 79,899,448 (GRCm39)	T2A	probably benign	Het
Crb1	C	T	1: 139,170,772 (GRCm39)	D812N	probably benign	Het
Dnah7c	T	A	1: 46,832,692 (GRCm39)	D3901E	probably damaging	Het
Dst	T	C	1: 34,232,208 (GRCm39)	V3445A	probably benign	Het
Epn1	T	A	7: 5,096,908 (GRCm39)	I230N	possibly damaging	Het
Exoc6b	G	T	6: 84,812,119 (GRCm39)	D627E	probably benign	Het
Exosc1	T	C	19: 41,919,797 (GRCm39)	K74E	possibly damaging	Het
Extl3	T	C	14: 65,315,024 (GRCm39)	T53A	probably benign	Het
Fam227a	C	T	15: 79,533,912 (GRCm39)	R17H	probably damaging	Het
Faxc	G	T	4: 21,993,358 (GRCm39)	W334L	probably damaging	Het
Gabrr3	T	C	16: 59,246,833 (GRCm39)	I94T	probably damaging	Het
Ifi203	A	T	1: 173,754,595 (GRCm39)	M298K	probably benign	Het
Igkv4-78	A	T	6: 69,037,207 (GRCm39)	M1K	probably null	Het
Iqcm	G	T	8: 76,472,980 (GRCm39)	R273I	probably damaging	Het
Itga1	G	T	13: 115,110,708 (GRCm39)	S961*	probably null	Het
Jmy	T	A	13: 93,576,246 (GRCm39)	M886L	possibly damaging	Het
Lrp2	T	C	2: 69,339,585 (GRCm39)	T1109A	possibly damaging	Het
Mastl	A	G	2: 23,030,010 (GRCm39)	S239P	probably benign	Het
Mettl14	T	A	3: 123,165,004 (GRCm39)	E112V	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Musk	A	G	4: 58,296,679 (GRCm39)	D93G	probably damaging	Het
Myoc	C	T	1: 162,475,034 (GRCm39)	T195M	possibly damaging	Het
Ncapg2	A	G	12: 116,404,208 (GRCm39)	D893G	probably damaging	Het
Nrap	C	T	19: 56,339,902 (GRCm39)	V908M	probably benign	Het
Or4a79	T	C	2: 89,552,120 (GRCm39)	I112V	probably benign	Het
Or52n5	T	C	7: 104,588,570 (GRCm39)	V279A	possibly damaging	Het
Or5g9	T	A	2: 85,551,836 (GRCm39)	L29*	probably null	Het
Orc4	T	C	2: 48,799,478 (GRCm39)	N333S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb8	G	A	18: 37,489,771 (GRCm39)	G483D	probably benign	Het
Pclo	A	T	5: 14,729,132 (GRCm39)		probably benign	Het
Ppm1k	A	T	6: 57,499,753 (GRCm39)	Y174*	probably null	Het
Ptprq	A	T	10: 107,489,393 (GRCm39)	S911T	probably benign	Het
Rp1	C	A	1: 4,419,451 (GRCm39)	A554S	probably benign	Het
Sema3f	T	C	9: 107,562,700 (GRCm39)	Y427C	probably damaging	Het
Slc12a1	A	T	2: 125,030,146 (GRCm39)	I573F	probably damaging	Het
Slc17a1	A	T	13: 24,060,601 (GRCm39)	Y201F	probably damaging	Het
Slc4a7	A	T	14: 14,733,803 (GRCm38)	H71L	probably damaging	Het
Spata6l	G	T	19: 28,905,148 (GRCm39)	D305E	probably benign	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Tab1	C	T	15: 80,036,964 (GRCm39)	R217W	probably damaging	Het
Taf6	T	A	5: 138,180,909 (GRCm39)	Y224F	possibly damaging	Het
Tmc5	C	G	7: 118,241,604 (GRCm39)	F432L	probably damaging	Het
Trbc1	A	T	6: 41,516,169 (GRCm39)		probably benign	Het
Trbv21	A	G	6: 41,179,879 (GRCm39)	N65S	probably benign	Het
Trim15	G	A	17: 37,177,875 (GRCm39)	P40L	probably benign	Het
Txnip	T	C	3: 96,466,916 (GRCm39)	S197P	probably benign	Het
Vmn1r167	T	A	7: 23,204,158 (GRCm39)	Q286L	probably benign	Het
Wnt9a	A	G	11: 59,222,067 (GRCm39)	I322V	probably benign	Het
Zfp879	T	C	11: 50,724,672 (GRCm39)	E128G	probably damaging	Het

Other mutations in C8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:C8b	APN	4	104,658,531 (GRCm39)	splice site	probably benign
IGL01145:C8b	APN	4	104,637,777 (GRCm39)	missense	probably benign	0.25
IGL01768:C8b	APN	4	104,644,151 (GRCm39)	missense	probably benign	0.00
IGL02347:C8b	APN	4	104,644,151 (GRCm39)	missense	probably benign	0.00
IGL02488:C8b	APN	4	104,661,278 (GRCm39)	missense	probably benign
IGL02957:C8b	APN	4	104,623,652 (GRCm39)	missense	probably benign
IGL02979:C8b	APN	4	104,631,585 (GRCm39)	missense	probably damaging	0.99
IGL02995:C8b	APN	4	104,658,525 (GRCm39)	splice site	probably benign
IGL03294:C8b	APN	4	104,637,888 (GRCm39)	missense	probably benign	0.06
R0568:C8b	UTSW	4	104,650,577 (GRCm39)	missense	probably benign	0.39
R1015:C8b	UTSW	4	104,644,157 (GRCm39)	missense	probably benign	0.19
R1191:C8b	UTSW	4	104,650,520 (GRCm39)	missense	probably damaging	1.00
R1401:C8b	UTSW	4	104,641,679 (GRCm39)	missense	possibly damaging	0.72
R3824:C8b	UTSW	4	104,640,206 (GRCm39)	missense	probably benign	0.42
R4611:C8b	UTSW	4	104,647,841 (GRCm39)	missense	probably damaging	0.98
R4756:C8b	UTSW	4	104,644,083 (GRCm39)	missense	probably benign
R5355:C8b	UTSW	4	104,637,860 (GRCm39)	missense	probably benign	0.01
R5436:C8b	UTSW	4	104,657,546 (GRCm39)	nonsense	probably null
R5561:C8b	UTSW	4	104,641,645 (GRCm39)	missense	possibly damaging	0.89
R5967:C8b	UTSW	4	104,650,530 (GRCm39)	missense	possibly damaging	0.79
R6744:C8b	UTSW	4	104,631,543 (GRCm39)	missense	probably damaging	1.00
R6899:C8b	UTSW	4	104,644,071 (GRCm39)	missense	probably benign	0.02
R6977:C8b	UTSW	4	104,644,193 (GRCm39)	missense	possibly damaging	0.82
R7088:C8b	UTSW	4	104,650,540 (GRCm39)	missense	probably benign	0.12
R7224:C8b	UTSW	4	104,637,795 (GRCm39)	missense	probably damaging	1.00
R7278:C8b	UTSW	4	104,637,824 (GRCm39)	missense	probably damaging	1.00
R8058:C8b	UTSW	4	104,647,811 (GRCm39)	missense	probably damaging	0.96
R8437:C8b	UTSW	4	104,644,040 (GRCm39)	missense	probably damaging	1.00
R8821:C8b	UTSW	4	104,647,874 (GRCm39)	missense	probably damaging	1.00
R8831:C8b	UTSW	4	104,647,874 (GRCm39)	missense	probably damaging	1.00
R9139:C8b	UTSW	4	104,641,631 (GRCm39)	missense	probably damaging	1.00
R9237:C8b	UTSW	4	104,650,481 (GRCm39)	missense	probably benign	0.00
R9294:C8b	UTSW	4	104,644,192 (GRCm39)	missense	probably benign	0.04
R9789:C8b	UTSW	4	104,640,191 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTCACAGGCTTGGAGAAG -3'
(R):5'- ACTTAAAGAAAGCCTGGGACC -3'

Sequencing Primer
(F):5'- GAGAGAAACTGTGACTGATCCCC -3'
(R):5'- CTGGGACCAATGAGGCTG -3'

Posted On

2016-03-01