Mutagenetix > Incidental Mutation

Incidental Mutation 'R9789:C8b'

734510

Institutional Source

Beutler Lab

Gene Symbol

C8b

Ensembl Gene

ENSMUSG00000029656

Gene Name

complement component 8, beta polypeptide

Synonyms

4930439B20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104623514-104661745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104640191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 165 (M165L)

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: M165L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: M165L

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: M165L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: M165L

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,231,357 (GRCm39)	S1038R	probably benign	Het
Aar2	T	C	2: 156,392,745 (GRCm39)	F45L	probably damaging	Het
Abcg2	A	G	6: 58,641,533 (GRCm39)	Y122C	probably damaging	Het
Arfgef1	A	T	1: 10,243,427 (GRCm39)	W1041R	probably damaging	Het
Ash1l	A	G	3: 88,873,373 (GRCm39)	N52S	probably benign	Het
Asrgl1	T	A	19: 9,093,974 (GRCm39)	T185S	probably damaging	Het
Astl	T	A	2: 127,192,146 (GRCm39)	S234T	probably damaging	Het
Atp5mf	T	C	5: 145,120,656 (GRCm39)	Y87C	probably damaging	Het
Atxn7l1	A	T	12: 33,396,062 (GRCm39)	R264W	probably damaging	Het
Axin2	T	C	11: 108,840,180 (GRCm39)	Y828H	probably damaging	Het
Bnipl	T	C	3: 95,153,140 (GRCm39)	D145G	possibly damaging	Het
Cd109	T	C	9: 78,541,944 (GRCm39)	L87P	possibly damaging	Het
Cdk17	C	T	10: 93,060,891 (GRCm39)	P232S	probably damaging	Het
Cnot1	T	C	8: 96,455,772 (GRCm39)	E1995G	probably damaging	Het
Csf2rb2	G	A	15: 78,169,196 (GRCm39)	A653V	probably benign	Het
Cutc	A	G	19: 43,756,699 (GRCm39)	N264D	probably benign	Het
Cxcr4	C	T	1: 128,516,884 (GRCm39)	W259*	probably null	Het
Dnah8	T	C	17: 30,980,104 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,367,937 (GRCm39)	I652T	probably benign	Het
Dstyk	A	T	1: 132,381,859 (GRCm39)	M538L	probably benign	Het
Eppk1	T	A	15: 75,993,219 (GRCm39)	I1221F	probably benign	Het
Ern2	T	A	7: 121,769,485 (GRCm39)	Y847F	probably damaging	Het
Exosc7	T	A	9: 122,959,990 (GRCm39)	V197D	probably damaging	Het
Gabra1	T	C	11: 42,024,352 (GRCm39)	Y441C	probably damaging	Het
Garem1	G	A	18: 21,262,985 (GRCm39)	P610S	possibly damaging	Het
Garem2	T	A	5: 30,319,330 (GRCm39)	V264E	probably damaging	Het
Gata2	G	A	6: 88,177,272 (GRCm39)	G101S	probably benign	Het
Gcnt4	A	G	13: 97,083,429 (GRCm39)	T242A	probably benign	Het
Ghitm	A	C	14: 36,852,719 (GRCm39)	Y120*	probably null	Het
Gimap7	A	G	6: 48,700,470 (GRCm39)	S19G	probably damaging	Het
Gm5475	G	A	15: 100,324,881 (GRCm39)	G103E	unknown	Het
Gstcd	A	T	3: 132,790,357 (GRCm39)	C137S	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Hfm1	T	C	5: 107,065,346 (GRCm39)	D111G	probably benign	Het
Ighg2b	A	G	12: 113,270,304 (GRCm39)	I238T		Het
Il2ra	A	C	2: 11,685,161 (GRCm39)	M166L	probably benign	Het
Itga1	A	T	13: 115,171,820 (GRCm39)	L95*	probably null	Het
Itpr3	A	G	17: 27,308,915 (GRCm39)	T373A	probably benign	Het
Klhl28	A	G	12: 64,996,871 (GRCm39)	V490A	probably damaging	Het
Kntc1	A	T	5: 123,898,706 (GRCm39)	N200I	possibly damaging	Het
L3mbtl4	A	G	17: 68,766,794 (GRCm39)	K167R	probably benign	Het
Lgals1	A	T	15: 78,813,930 (GRCm39)	T63S	probably benign	Het
Lnpep	C	A	17: 17,795,596 (GRCm39)	C305F	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mcmbp	A	G	7: 128,311,583 (GRCm39)	I310T	possibly damaging	Het
Mical2	G	A	7: 111,945,996 (GRCm39)	R986H	probably damaging	Het
Muc5b	A	T	7: 141,415,330 (GRCm39)	S2759C	possibly damaging	Het
Myh7	A	G	14: 55,229,384 (GRCm39)	V138A	possibly damaging	Het
Ncr1	T	G	7: 4,344,300 (GRCm39)		probably null	Het
Ndufa10	A	T	1: 92,397,610 (GRCm39)	D145E	possibly damaging	Het
Neo1	T	A	9: 58,801,307 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,701 (GRCm39)	S941T	probably benign	Het
Nrm	T	A	17: 36,172,411 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,907,227 (GRCm39)	V1018A	possibly damaging	Het
Odf1	A	G	15: 38,219,716 (GRCm39)	I15V	probably benign	Het
Or10al2	T	A	17: 37,983,059 (GRCm39)	N48K	probably damaging	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or1e1c	A	T	11: 73,265,710 (GRCm39)	N48I	probably damaging	Het
Or4b1d	T	A	2: 89,969,004 (GRCm39)	T160S	probably benign	Het
Or52e18	A	T	7: 104,609,657 (GRCm39)	I94N	probably damaging	Het
Or5m10	C	T	2: 85,717,338 (GRCm39)	H65Y	probably damaging	Het
Or5p66	A	T	7: 107,885,898 (GRCm39)	V145D	probably benign	Het
Or7g32	C	A	9: 19,389,382 (GRCm39)	D55Y	probably benign	Het
Osgin2	A	T	4: 15,998,957 (GRCm39)	Y222N	probably damaging	Het
Pcdhga10	T	C	18: 37,882,363 (GRCm39)	V708A	probably benign	Het
Pfn3	T	C	13: 55,562,900 (GRCm39)	D27G	possibly damaging	Het
Plch2	A	G	4: 155,095,322 (GRCm39)		probably null	Het
Plin2	C	A	4: 86,576,914 (GRCm39)	Q270H	probably damaging	Het
Polk	A	G	13: 96,630,403 (GRCm39)	F386S	probably damaging	Het
Prkar1a	G	A	11: 109,556,778 (GRCm39)	G286E	probably damaging	Het
Prodh	A	T	16: 17,898,049 (GRCm39)	L276Q	probably damaging	Het
Ranbp10	T	C	8: 106,513,306 (GRCm39)	N202S	probably damaging	Het
Rapgef6	C	A	11: 54,540,097 (GRCm39)	T724K	probably benign	Het
Rnf144a	T	A	12: 26,377,574 (GRCm39)	K56N	probably benign	Het
Rpa1	T	A	11: 75,203,938 (GRCm39)	K303I	probably damaging	Het
Slc16a9	A	C	10: 70,118,340 (GRCm39)	N220H	possibly damaging	Het
Slc28a3	T	C	13: 58,724,664 (GRCm39)	I197V	probably benign	Het
Slc35d1	A	T	4: 103,071,946 (GRCm39)	F19I		Het
Sohlh2	A	T	3: 55,099,721 (GRCm39)	E164D	probably damaging	Het
Sord	A	T	2: 122,093,765 (GRCm39)	K295*	probably null	Het
Spata31d1b	A	G	13: 59,860,196 (GRCm39)	Y23C	probably benign	Het
Stard9	T	A	2: 120,510,417 (GRCm39)	Y333N	probably damaging	Het
Tas2r107	A	G	6: 131,636,753 (GRCm39)	F99L	probably damaging	Het
Thap12	C	T	7: 98,352,592 (GRCm39)		probably benign	Het
Tmprss9	A	T	10: 80,730,993 (GRCm39)	T840S	probably benign	Het
Trim16	T	A	11: 62,720,026 (GRCm39)		probably null	Het
Ttc16	C	T	2: 32,664,805 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Unc80	A	T	1: 66,651,371 (GRCm39)	Y1572F	possibly damaging	Het
Usp42	G	T	5: 143,706,060 (GRCm39)	A320D	possibly damaging	Het
Vmn2r94	T	C	17: 18,464,038 (GRCm39)	T751A	probably damaging	Het
Zbtb41	C	T	1: 139,368,084 (GRCm39)	L591F	probably damaging	Het
Zdhhc5	T	A	2: 84,524,662 (GRCm39)	E219D	probably damaging	Het
Zfp248	A	T	6: 118,406,012 (GRCm39)	F526I	probably damaging	Het
Zfp322a	T	C	13: 23,540,558 (GRCm39)	K395E	possibly damaging	Het
Zfp423	G	A	8: 88,506,877 (GRCm39)	P1156S	probably benign	Het
Zfp644	T	C	5: 106,786,131 (GRCm39)	T139A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TCAGAATGGGCACTAGAGGC -3'
(R):5'- GAATTGACCTCAGAGAACACATGG -3'

Sequencing Primer
(F):5'- GCACTAGAGGCCACATGC -3'
(R):5'- ATGGAGGTACCTACTCCTACTACCG -3'

Posted On

2022-11-14