Mutagenetix > Incidental Mutation

Incidental Mutation 'R4611:C8b'

344695

Institutional Source

Beutler Lab

Gene Symbol

C8b

Ensembl Gene

ENSMUSG00000029656

Gene Name

complement component 8, beta polypeptide

Synonyms

4930439B20Rik

MMRRC Submission

041822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104623514-104661745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104647841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 278 (I278T)

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: I344T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: I344T

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 damaging
Transcript: ENSMUST00000065072
AA Change: I278T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: I278T

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,259 (GRCm39)	R200C	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aoc1l1	A	T	6: 48,952,090 (GRCm39)	Q5L	probably benign	Het
Apc	T	C	18: 34,451,618 (GRCm39)	L2804P	probably damaging	Het
Apob	C	A	12: 8,061,331 (GRCm39)	A3271E	probably damaging	Het
Asl	G	T	5: 130,047,157 (GRCm39)	A147E	probably damaging	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bcl11b	T	C	12: 107,882,789 (GRCm39)	K509E	probably damaging	Het
Btnl1	T	C	17: 34,598,699 (GRCm39)	I105T	probably damaging	Het
Btnl10	A	G	11: 58,811,183 (GRCm39)	T169A	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd8b1	T	C	6: 71,309,459 (GRCm39)	V181A	probably benign	Het
Cdan1	A	T	2: 120,561,201 (GRCm39)	V189D	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap52	T	C	11: 67,817,247 (GRCm39)	N549D	probably damaging	Het
Cmklr1	C	T	5: 113,752,930 (GRCm39)	V24M	probably benign	Het
Cntnap4	G	T	8: 113,500,371 (GRCm39)		probably null	Het
Col27a1	G	A	4: 63,211,743 (GRCm39)	G91R	probably damaging	Het
Col5a3	A	G	9: 20,726,192 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,682,069 (GRCm39)		probably null	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah8	T	A	17: 30,903,211 (GRCm39)	L950H	probably damaging	Het
Dnajc7	A	T	11: 100,481,803 (GRCm39)	Y228*	probably null	Het
Eno1b	T	C	18: 48,180,770 (GRCm39)	V316A	probably damaging	Het
Exoc4	T	C	6: 33,415,340 (GRCm39)	M404T	possibly damaging	Het
Fignl1	A	T	11: 11,751,268 (GRCm39)	C596S	probably benign	Het
Fn1	A	C	1: 71,663,337 (GRCm39)	Y1050*	probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gba2	T	A	4: 43,568,092 (GRCm39)	S732C	probably damaging	Het
Gcnt4	C	A	13: 97,082,990 (GRCm39)	S95R	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gria2	A	T	3: 80,599,799 (GRCm39)	M695K	probably damaging	Het
Hoxa9	T	C	6: 52,202,690 (GRCm39)	K132R	probably damaging	Het
Ifi213	T	A	1: 173,417,480 (GRCm39)	T311S	possibly damaging	Het
Itgb2	T	A	10: 77,385,884 (GRCm39)	N282K	probably damaging	Het
Kcnh8	A	T	17: 52,909,864 (GRCm39)	Q11L	probably benign	Het
Klk14	T	C	7: 43,343,781 (GRCm39)	C163R	probably damaging	Het
Klk1b3	T	A	7: 43,850,689 (GRCm39)	W74R	possibly damaging	Het
Krtap13-1	G	T	16: 88,526,142 (GRCm39)	C122F	possibly damaging	Het
Luzp2	T	C	7: 54,713,104 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,570,576 (GRCm39)	V1211E	probably benign	Het
Myb	T	A	10: 21,021,223 (GRCm39)	D402V	probably damaging	Het
Ncor2	G	A	5: 125,107,923 (GRCm39)	T1593I	probably damaging	Het
Ndst3	A	G	3: 123,465,198 (GRCm39)	I258T	probably benign	Het
Npy6r	C	A	18: 44,409,468 (GRCm39)	H296Q	probably damaging	Het
Olfml2b	T	A	1: 170,472,516 (GRCm39)	L9H	probably damaging	Het
Or10a3n	A	G	7: 108,493,324 (GRCm39)	C97R	probably damaging	Het
Or1a1b	A	T	11: 74,097,361 (GRCm39)	V227D	possibly damaging	Het
Or2w2	A	T	13: 21,757,744 (GRCm39)	V294D	probably damaging	Het
Or4k15	C	A	14: 50,364,530 (GRCm39)	N165K	probably benign	Het
Or5b119	C	T	19: 13,457,376 (GRCm39)	C62Y	probably damaging	Het
Or5b94	T	A	19: 12,652,318 (GRCm39)	Y250N	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parg	G	A	14: 31,996,821 (GRCm39)	R304Q	probably damaging	Het
Pdf	T	G	8: 107,775,167 (GRCm39)	S22R	probably benign	Het
Phlpp2	A	T	8: 110,603,515 (GRCm39)	R60S	possibly damaging	Het
Piwil2	C	T	14: 70,639,646 (GRCm39)	E401K	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Polr3a	T	C	14: 24,502,576 (GRCm39)		probably null	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ptch2	G	A	4: 116,967,575 (GRCm39)	D748N	probably benign	Het
Rai14	A	C	15: 10,592,224 (GRCm39)	Y224D	probably damaging	Het
Rft1	A	G	14: 30,411,747 (GRCm39)	I432V	probably damaging	Het
Rictor	C	T	15: 6,816,625 (GRCm39)	A1299V	possibly damaging	Het
Sall2	A	G	14: 52,551,210 (GRCm39)	C662R	probably damaging	Het
Scn4b	A	G	9: 45,061,737 (GRCm39)	N208D	probably damaging	Het
Sdhb	G	A	4: 140,700,226 (GRCm39)	G109R	probably damaging	Het
Sec16a	A	G	2: 26,331,817 (GRCm39)	V66A	probably benign	Het
Sema4g	A	G	19: 44,990,051 (GRCm39)	Y710C	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Shc4	T	A	2: 125,497,602 (GRCm39)	D369V	probably benign	Het
Siglech	T	C	7: 55,421,441 (GRCm39)	L285P	probably damaging	Het
Skint6	A	G	4: 112,931,273 (GRCm39)	M506T	probably benign	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Slfn14	T	A	11: 83,174,140 (GRCm39)	K284*	probably null	Het
Sox14	A	G	9: 99,757,715 (GRCm39)	I8T	probably damaging	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Tdpoz3	A	T	3: 93,734,330 (GRCm39)	H335L	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tnik	T	C	3: 28,596,249 (GRCm39)		probably null	Het
Tnpo2	T	C	8: 85,780,432 (GRCm39)	S720P	probably benign	Het
Tpst1	A	G	5: 130,130,547 (GRCm39)	K6E	probably damaging	Het
Trank1	T	A	9: 111,191,329 (GRCm39)	I446N	probably damaging	Het
Trmt44	A	T	5: 35,732,351 (GRCm39)	D13E	probably benign	Het
Ubr4	T	A	4: 139,126,890 (GRCm39)	V471E	possibly damaging	Het
Ubtd1	A	G	19: 42,022,030 (GRCm39)	T101A	probably benign	Het
Ugt3a1	A	T	15: 9,306,486 (GRCm39)	K212*	probably null	Het
Zbtb7c	C	T	18: 76,269,918 (GRCm39)	A2V	possibly damaging	Het
Zfp423	C	T	8: 88,414,709 (GRCm39)	G1182D	possibly damaging	Het
Zfp618	G	A	4: 63,051,216 (GRCm39)	V666M	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo
Zscan20	T	C	4: 128,481,899 (GRCm39)	T588A	probably benign	Het
Zscan25	G	A	5: 145,227,926 (GRCm39)	R530H	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
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
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'- AAAGCAAGTTCCTCCACGCG -3'
(R):5'- ATCAGGAATTTCTGGAGGTAAGGTG -3'

Sequencing Primer
(F):5'- CGCGCTCTGTCCTTGAAGTG -3'
(R):5'- GGATTGACCATAGTCTGTGGAC -3'

Posted On

2015-09-25