Mutagenetix > Incidental Mutation

Incidental Mutation 'R7088:C8b'

549994

Institutional Source

Beutler Lab

Gene Symbol

C8b

Ensembl Gene

ENSMUSG00000029656

Gene Name

complement component 8, beta polypeptide

Synonyms

4930439B20Rik

MMRRC Submission

045182-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104623514-104661745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104650540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 449 (E449D)

Ref Sequence

ENSEMBL: ENSMUSP00000031663 (fasta)

Gene Model

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

AlphaFold

Q8BH35

Predicted Effect

probably benign
Transcript: ENSMUST00000031663
AA Change: E449D

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: E449D

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

probably benign
Transcript: ENSMUST00000065072
AA Change: E383D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: E383D

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,331,232 (GRCm39)	E48*	probably null	Het
Acaca	T	C	11: 84,169,783 (GRCm39)		probably null	Het
Albfm1	T	A	5: 90,720,609 (GRCm39)	L260*	probably null	Het
Alkbh3	A	G	2: 93,835,097 (GRCm39)	S83P	possibly damaging	Het
Ammecr1l	T	C	18: 31,904,872 (GRCm39)	S38P	probably benign	Het
Armc10	T	C	5: 21,858,390 (GRCm39)	V145A	probably damaging	Het
BC048671	A	G	6: 90,280,222 (GRCm39)	K46R	probably null	Het
C2cd3	A	G	7: 100,065,388 (GRCm39)	T347A		Het
Camk4	T	C	18: 33,072,584 (GRCm39)	S46P	probably benign	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Cd177	A	T	7: 24,444,558 (GRCm39)	C674*	probably null	Het
Cdc6	T	A	11: 98,810,065 (GRCm39)	V458D	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Ckap2	G	T	8: 22,659,882 (GRCm39)	P533Q	possibly damaging	Het
Cma1	T	A	14: 56,181,273 (GRCm39)	H44L	probably damaging	Het
Cmya5	A	T	13: 93,228,372 (GRCm39)	S2239T	possibly damaging	Het
Cntnap5b	T	A	1: 100,087,802 (GRCm39)	I141N	probably damaging	Het
Col6a4	T	A	9: 105,877,885 (GRCm39)	T2031S	possibly damaging	Het
Cplane1	C	T	15: 8,248,431 (GRCm39)	T1660M	probably benign	Het
Cxcr5	T	A	9: 44,424,683 (GRCm39)	T325S	possibly damaging	Het
Dhx32	A	T	7: 133,344,417 (GRCm39)	L204Q	probably damaging	Het
Dse	A	G	10: 34,029,885 (GRCm39)	Y402H	probably damaging	Het
Ecpas	A	T	4: 58,849,766 (GRCm39)	L458I	possibly damaging	Het
Exoc6	G	T	19: 37,565,458 (GRCm39)	C178F	probably damaging	Het
Fam149a	A	G	8: 45,803,582 (GRCm39)	V384A	probably benign	Het
Fcrl5	T	C	3: 87,365,141 (GRCm39)	*597Q	probably null	Het
Fer1l6	A	G	15: 58,435,899 (GRCm39)	K431E	possibly damaging	Het
Fmo3	T	A	1: 162,796,434 (GRCm39)	H46L	probably benign	Het
Gcm2	T	C	13: 41,256,840 (GRCm39)	D303G	probably damaging	Het
Gk2	T	C	5: 97,603,534 (GRCm39)	M435V	probably damaging	Het
Gli1	C	A	10: 127,171,868 (GRCm39)	M295I	probably damaging	Het
Gm11444	G	T	11: 85,737,862 (GRCm39)	H109Q		Het
Gtpbp1	T	A	15: 79,603,483 (GRCm39)	D182E		Het
Hnf4g	A	T	3: 3,713,185 (GRCm39)		probably null	Het
Hsf2	G	A	10: 57,388,188 (GRCm39)	R483H	probably damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Lama3	T	C	18: 12,715,602 (GRCm39)	V1686A	possibly damaging	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Mboat1	T	G	13: 30,379,772 (GRCm39)		probably null	Het
Mdh1	T	C	11: 21,508,484 (GRCm39)	Y286C	probably damaging	Het
Mga	G	T	2: 119,792,417 (GRCm39)	K2607N	probably damaging	Het
Morf4l1	C	A	9: 89,979,433 (GRCm39)	V183F	possibly damaging	Het
Mroh4	G	A	15: 74,497,993 (GRCm39)	R196W	probably benign	Het
Muc16	C	A	9: 18,503,976 (GRCm39)	M6438I	probably damaging	Het
Myom3	A	G	4: 135,530,589 (GRCm39)	Y1167C	probably damaging	Het
Neurl3	T	C	1: 36,308,302 (GRCm39)	E170G	possibly damaging	Het
Nsd3	T	C	8: 26,156,050 (GRCm39)	I539T	probably benign	Het
Nup155	T	C	15: 8,186,177 (GRCm39)	F1313S	probably benign	Het
Nxn	A	T	11: 76,153,974 (GRCm39)	V287E	possibly damaging	Het
Or4a80	G	A	2: 89,582,443 (GRCm39)	T243I	probably benign	Het
Or7a38	A	C	10: 78,753,593 (GRCm39)	L306F	probably benign	Het
Or8c13	C	A	9: 38,091,748 (GRCm39)	V124F	probably damaging	Het
Pax6	A	G	2: 105,526,753 (GRCm39)	N220D	probably benign	Het
Pcdha11	G	A	18: 37,138,470 (GRCm39)	R33H	probably benign	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pear1	C	A	3: 87,661,945 (GRCm39)	V477F	possibly damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pidd1	A	T	7: 141,020,400 (GRCm39)	V539E	probably damaging	Het
Ptprg	A	T	14: 12,207,365 (GRCm38)	I878F	probably damaging	Het
Rabepk	T	C	2: 34,675,711 (GRCm39)	T140A	probably benign	Het
Ranbp2	G	T	10: 58,299,728 (GRCm39)	R454L	probably damaging	Het
Rnf123	C	T	9: 107,935,735 (GRCm39)	R943Q	probably null	Het
Sash1	G	A	10: 8,605,481 (GRCm39)	R970*	probably null	Het
Serpinb2	C	A	1: 107,452,422 (GRCm39)	F333L	probably damaging	Het
Shank3	T	A	15: 89,387,728 (GRCm39)		probably null	Het
Slc9a2	A	C	1: 40,765,539 (GRCm39)	I310L	probably damaging	Het
Strip2	T	A	6: 29,920,532 (GRCm39)		probably null	Het
Thoc3	T	C	13: 54,611,565 (GRCm39)	T241A	probably damaging	Het
Tmem139	T	A	6: 42,240,199 (GRCm39)	V2E	probably damaging	Het
Usp24	G	T	4: 106,244,743 (GRCm39)	V1233F	probably damaging	Het
Vnn1	A	G	10: 23,776,645 (GRCm39)	Q332R	probably benign	Het
Wac	T	A	18: 7,921,455 (GRCm39)	H530Q	probably damaging	Het
Wdr35	T	A	12: 9,028,659 (GRCm39)	N92K	probably benign	Het
Zbtb18	T	G	1: 177,274,820 (GRCm39)	L60R	probably damaging	Het
Zfp184	T	A	13: 22,144,162 (GRCm39)	C623S	probably damaging	Het
Zfp292	A	G	4: 34,806,796 (GRCm39)	Y2088H	probably damaging	Het
Zfp975	G	T	7: 42,312,096 (GRCm39)	S172R	probably benign	Het
Zswim2	G	A	2: 83,746,071 (GRCm39)	Q456*	probably null	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
R4845:C8b	UTSW	4	104,649,009 (GRCm39)	missense	possibly damaging	0.87
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
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'- GTCTCCCAGAAAGGTTCACTAC -3'
(R):5'- AAGTAACTCAAGCATGGGGC -3'

Sequencing Primer
(F):5'- TAGCTGCAGTAAATTCCAAGGC -3'
(R):5'- TAACTCAAGCATGGGGCCTGTG -3'

Posted On

2019-05-15