Mutagenetix > Incidental Mutation

Incidental Mutation 'R7224:C8b'

562010

Institutional Source

Beutler Lab

Gene Symbol

C8b

Ensembl Gene

ENSMUSG00000029656

Gene Name

complement component 8, beta polypeptide

Synonyms

4930439B20Rik

MMRRC Submission

045296-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104623514-104661745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104637795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 89 (L89P)

Ref Sequence

ENSEMBL: ENSMUSP00000031663 (fasta)

Gene Model

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

AlphaFold

Q8BH35

Predicted Effect

probably damaging
Transcript: ENSMUST00000031663
AA Change: L89P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: L89P

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: L89P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: L89P

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

Meta Mutation Damage Score

0.3002

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,943,275 (GRCm39)	T60M	probably benign	Het
Actn4	C	T	7: 28,661,509 (GRCm39)	A34T	probably benign	Het
Acvrl1	A	G	15: 101,041,245 (GRCm39)	M466V	probably benign	Het
Adamts7	T	C	9: 90,067,868 (GRCm39)	Y453H	probably damaging	Het
Amfr	G	A	8: 94,711,484 (GRCm39)	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,516,688 (GRCm39)	T492M	probably benign	Het
Anxa6	A	G	11: 54,876,993 (GRCm39)	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,318,384 (GRCm39)	Y394D	unknown	Het
Atic	G	A	1: 71,610,014 (GRCm39)	V342I	probably benign	Het
Atl1	C	A	12: 70,002,127 (GRCm39)	T362N	probably benign	Het
Atp10a	A	T	7: 58,447,219 (GRCm39)	M654L	probably benign	Het
B3gnt5	A	T	16: 19,588,503 (GRCm39)	M241L	probably benign	Het
Bbs7	A	G	3: 36,659,877 (GRCm39)	V186A	possibly damaging	Het
Brme1	A	G	8: 84,898,842 (GRCm39)	T577A	probably benign	Het
Capn7	G	T	14: 31,092,678 (GRCm39)	E742*	probably null	Het
Ccdc162	G	A	10: 41,437,187 (GRCm39)	R1741C	probably damaging	Het
Cdhr17	T	C	5: 17,041,592 (GRCm39)	V615A	possibly damaging	Het
Chsy3	T	A	18: 59,542,047 (GRCm39)	L395H	probably damaging	Het
Cnot9	A	G	1: 74,556,388 (GRCm39)	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp2d12	T	A	15: 82,441,849 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,436,420 (GRCm39)	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,584,196 (GRCm39)	G533D	possibly damaging	Het
Eddm13	T	G	7: 6,271,801 (GRCm39)	M77R	probably benign	Het
Elfn1	A	G	5: 139,958,228 (GRCm39)	S411G	probably benign	Het
Enpp3	T	C	10: 24,652,782 (GRCm39)	D725G	possibly damaging	Het
Fmnl1	T	C	11: 103,073,595 (GRCm39)		probably null	Het
Fndc8	T	C	11: 82,783,151 (GRCm39)	M44T	probably benign	Het
Gcgr	A	T	11: 120,425,538 (GRCm39)		probably benign	Het
Ggt1	T	A	10: 75,410,110 (GRCm39)	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,331,447 (GRCm39)	I198M	unknown	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm6034	T	A	17: 36,367,331 (GRCm39)	S59T	unknown	Het
Gm6408	G	A	5: 146,421,180 (GRCm39)	V270I	probably benign	Het
Gpr20	A	T	15: 73,567,981 (GRCm39)	I136N	probably damaging	Het
Ide	T	C	19: 37,268,160 (GRCm39)	E565G		Het
Igsf9	T	C	1: 172,322,349 (GRCm39)	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,590,965 (GRCm39)	R416*	probably null	Het
Kcnd3	A	T	3: 105,576,400 (GRCm39)	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,756,805 (GRCm39)	M265L	probably benign	Het
Klhdc1	G	A	12: 69,309,923 (GRCm39)	S275N	probably damaging	Het
Ldc1	C	G	4: 130,112,992 (GRCm39)	A135P	probably damaging	Het
Lrba	A	C	3: 86,302,553 (GRCm39)	N1871T	probably damaging	Het
Lrrk1	A	G	7: 65,982,134 (GRCm39)	V169A	probably damaging	Het
Magi1	A	G	6: 93,660,070 (GRCm39)	I1175T	probably benign	Het
Man1a2	T	C	3: 100,489,369 (GRCm39)	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,459,209 (GRCm39)	N129S	probably damaging	Het
Mup5	G	A	4: 61,750,622 (GRCm39)	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,488,877 (GRCm39)	R216C	probably damaging	Het
Neb	T	C	2: 52,224,671 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or52m2	A	T	7: 102,263,974 (GRCm39)	M74K	probably damaging	Het
Or5a1	T	C	19: 12,097,912 (GRCm39)	T55A	probably benign	Het
Or8b12b	G	A	9: 37,684,711 (GRCm39)	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,110,872 (GRCm39)	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,706,511 (GRCm39)	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,895,241 (GRCm39)	L623P		Het
Plxdc1	T	C	11: 97,823,153 (GRCm39)	T363A	possibly damaging	Het
Pole3	T	C	4: 62,442,287 (GRCm39)	D111G	unknown	Het
R3hdm2	T	A	10: 127,294,022 (GRCm39)	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,599,322 (GRCm39)	V90A		Het
Rcbtb1	C	G	14: 59,465,828 (GRCm39)	I390M	probably damaging	Het
Romo1	G	A	2: 155,986,295 (GRCm39)		probably benign	Het
Sars1	A	G	3: 108,335,519 (GRCm39)	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,224,724 (GRCm39)	T327A	probably benign	Het
Slc30a5	A	G	13: 100,945,762 (GRCm39)	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,473,044 (GRCm39)	E43K	probably benign	Het
Slc38a2	A	C	15: 96,589,240 (GRCm39)	L418W	probably damaging	Het
Snx14	T	C	9: 88,276,614 (GRCm39)	E557G	possibly damaging	Het
Spata33	T	A	8: 123,948,737 (GRCm39)	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,714,839 (GRCm39)	H170L	probably damaging	Het
Trpm1	A	G	7: 63,868,854 (GRCm39)		probably null	Het
Tsr3	A	T	17: 25,461,569 (GRCm39)	E302D	probably benign	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Usp2	C	T	9: 43,987,266 (GRCm39)	T188M	possibly damaging	Het
Usp44	A	G	10: 93,681,855 (GRCm39)	I102V	probably benign	Het
Wasf1	A	G	10: 40,802,546 (GRCm39)	N67S	probably benign	Het
Zfp445	T	C	9: 122,681,208 (GRCm39)	N911S	probably benign	Het
Zfp467	A	G	6: 48,421,903 (GRCm39)		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
R7088:C8b	UTSW	4	104,650,540 (GRCm39)	missense	probably benign	0.12
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'- AGCCTTGCATAGAACCTCAG -3'
(R):5'- GCAACCCTGATCTTCATGAACC -3'

Sequencing Primer
(F):5'- GCCTTGCATAGAACCTCAGTGTATG -3'
(R):5'- TCCATCATTGCATGCTACTTTATG -3'

Posted On

2019-06-26