Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:C4bp'

541861

Institutional Source

Beutler Lab

Gene Symbol

C4bp

Ensembl Gene

ENSMUSG00000026405

Gene Name

complement component 4 binding protein

Synonyms

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130563658-130589394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130585009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 9 (L9Q)

Ref Sequence

ENSEMBL: ENSMUSP00000121185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027657] [ENSMUST00000137276]

AlphaFold

P08607

Predicted Effect

probably damaging
Transcript: ENSMUST00000027657
AA Change: L9Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: L9Q

Domain	Start	End	E-Value	Type
CCP	58	115	3.45e-5	SMART
CCP	120	176	3.17e-13	SMART
CCP	181	240	4.59e-10	SMART
CCP	245	299	3.12e-12	SMART
CCP	303	355	7.28e-13	SMART
CCP	359	413	1.07e-10	SMART
PDB:4B0F\|G	416	459	6e-9	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000137276
AA Change: L9Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121185
Gene: ENSMUSG00000026405
AA Change: L9Q

Domain	Start	End	E-Value	Type
CCP	58	115	3.45e-5	SMART
CCP	120	176	3.17e-13	SMART
CCP	181	240	4.59e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,866,959 (GRCm39)	Y334*	probably null	Het
Abcc2	A	C	19: 43,786,515 (GRCm39)	I116L	probably benign	Het
Adamts17	T	A	7: 66,559,148 (GRCm39)	Y313N	possibly damaging	Het
Adamts17	A	G	7: 66,654,101 (GRCm39)	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,075,091 (GRCm39)	I153V	probably damaging	Het
Ambra1	C	T	2: 91,747,761 (GRCm39)	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,336,722 (GRCm39)	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,507,519 (GRCm39)		probably null	Het
Cadps2	A	C	6: 23,583,458 (GRCm39)	V344G	probably damaging	Het
Car7	A	G	8: 105,270,213 (GRCm39)	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,101 (GRCm39)	H157Q	probably null	Het
Chst11	C	T	10: 83,027,215 (GRCm39)	T214I	probably damaging	Het
Cntrob	G	A	11: 69,200,317 (GRCm39)	R526*	probably null	Het
Cul1	A	G	6: 47,493,443 (GRCm39)	T445A	probably benign	Het
Dclre1c	T	C	2: 3,454,206 (GRCm39)	V363A	possibly damaging	Het
Dock10	T	A	1: 80,481,365 (GRCm39)		probably benign	Het
Donson	A	G	16: 91,478,107 (GRCm39)	Y465H	probably benign	Het
Eif3e	G	A	15: 43,135,685 (GRCm39)	A118V	probably benign	Het
Fam47e	A	T	5: 92,713,911 (GRCm39)	Q180L	probably damaging	Het
Fat1	T	G	8: 45,496,982 (GRCm39)	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,702,599 (GRCm39)	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,282,158 (GRCm39)	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,946,415 (GRCm39)	A71V	probably damaging	Het
Gfap	G	A	11: 102,787,783 (GRCm39)	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,955,759 (GRCm39)	M175I	probably benign	Het
Gm10645	C	T	8: 83,892,581 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,357,040 (GRCm39)	P464S	probably benign	Het
Helz2	T	A	2: 180,872,221 (GRCm39)	I2584F	probably damaging	Het
Mak	T	A	13: 41,186,067 (GRCm39)	I534L	probably benign	Het
Map3k9	T	C	12: 81,819,777 (GRCm39)	D159G	probably benign	Het
Mcat	A	G	15: 83,432,132 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Ntng2	T	A	2: 29,087,041 (GRCm39)	Y452F	probably benign	Het
Or10ag60	T	C	2: 87,437,957 (GRCm39)	L75P	probably damaging	Het
Or4a72	T	A	2: 89,405,333 (GRCm39)	I246F	probably benign	Het
Or5b118	T	A	19: 13,448,725 (GRCm39)	Y130*	probably null	Het
Or5p53	A	T	7: 107,532,966 (GRCm39)	I80L	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pianp	T	A	6: 124,976,353 (GRCm39)	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,237,293 (GRCm39)	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,250,279 (GRCm39)	V268A	probably benign	Het
Rhoj	T	A	12: 75,422,163 (GRCm39)	Y74N	probably damaging	Het
Rigi	A	G	4: 40,225,697 (GRCm39)	S235P	probably benign	Het
Snx13	A	C	12: 35,169,788 (GRCm39)	T578P	possibly damaging	Het
Star	T	A	8: 26,301,851 (GRCm39)	H227Q	probably benign	Het
Stau2	A	C	1: 16,460,229 (GRCm39)	M204R	probably damaging	Het
Steap4	A	G	5: 8,025,568 (GRCm39)	Y43C	probably damaging	Het
Syt8	A	G	7: 141,993,158 (GRCm39)	E21G	probably benign	Het
Tacr3	T	C	3: 134,535,500 (GRCm39)	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,422 (GRCm39)	T199M	probably benign	Het
Tmem131	T	C	1: 36,835,373 (GRCm39)	T1583A	probably damaging	Het
Tom1	G	A	8: 75,778,593 (GRCm39)	V87I	probably null	Het
Treml4	G	T	17: 48,579,847 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,544,457 (GRCm39)	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,505,315 (GRCm39)	C223W	probably damaging	Het
Wipi1	C	T	11: 109,494,590 (GRCm39)	R81Q	probably benign	Het
Zc3h7a	G	A	16: 10,967,088 (GRCm39)	T568I	probably benign	Het
Zfp287	A	T	11: 62,615,643 (GRCm39)	I228N	probably damaging	Het
Zfp606	T	A	7: 12,223,519 (GRCm39)	V10E	probably damaging	Het

Other mutations in C4bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:C4bp	APN	1	130,566,871 (GRCm39)	missense	probably damaging	1.00
IGL01349:C4bp	APN	1	130,570,665 (GRCm39)	intron	probably benign
IGL01401:C4bp	APN	1	130,575,801 (GRCm39)	missense	possibly damaging	0.95
IGL02252:C4bp	APN	1	130,564,524 (GRCm39)	missense	probably damaging	1.00
IGL02903:C4bp	APN	1	130,583,722 (GRCm39)	missense	probably damaging	1.00
IGL02958:C4bp	APN	1	130,564,532 (GRCm39)	missense	probably damaging	1.00
IGL03061:C4bp	APN	1	130,564,454 (GRCm39)	missense	probably damaging	0.98
PIT4434001:C4bp	UTSW	1	130,584,947 (GRCm39)	missense	probably benign	0.14
R0989:C4bp	UTSW	1	130,570,790 (GRCm39)	missense	probably benign	0.02
R1728:C4bp	UTSW	1	130,570,725 (GRCm39)	missense	probably benign	0.04
R1729:C4bp	UTSW	1	130,570,725 (GRCm39)	missense	probably benign	0.04
R1730:C4bp	UTSW	1	130,570,725 (GRCm39)	missense	probably benign	0.04
R1739:C4bp	UTSW	1	130,570,725 (GRCm39)	missense	probably benign	0.04
R1762:C4bp	UTSW	1	130,570,725 (GRCm39)	missense	probably benign	0.04
R1783:C4bp	UTSW	1	130,570,725 (GRCm39)	missense	probably benign	0.04
R1784:C4bp	UTSW	1	130,570,725 (GRCm39)	missense	probably benign	0.04
R1785:C4bp	UTSW	1	130,570,725 (GRCm39)	missense	probably benign	0.04
R1942:C4bp	UTSW	1	130,583,804 (GRCm39)	splice site	probably benign
R2006:C4bp	UTSW	1	130,575,769 (GRCm39)	nonsense	probably null
R3877:C4bp	UTSW	1	130,575,764 (GRCm39)	critical splice donor site	probably null
R4446:C4bp	UTSW	1	130,570,692 (GRCm39)	missense	probably benign	0.06
R4551:C4bp	UTSW	1	130,564,464 (GRCm39)	missense	possibly damaging	0.46
R4552:C4bp	UTSW	1	130,564,464 (GRCm39)	missense	possibly damaging	0.46
R4727:C4bp	UTSW	1	130,566,922 (GRCm39)	missense	probably benign	0.19
R4761:C4bp	UTSW	1	130,581,158 (GRCm39)	missense	possibly damaging	0.83
R5620:C4bp	UTSW	1	130,581,090 (GRCm39)	missense	probably damaging	1.00
R6110:C4bp	UTSW	1	130,566,809 (GRCm39)	nonsense	probably null
R6189:C4bp	UTSW	1	130,564,556 (GRCm39)	missense	probably damaging	1.00
R6344:C4bp	UTSW	1	130,583,752 (GRCm39)	missense	probably benign	0.12
R6418:C4bp	UTSW	1	130,583,750 (GRCm39)	missense	probably damaging	1.00
R6895:C4bp	UTSW	1	130,563,943 (GRCm39)	makesense	probably null
R8051:C4bp	UTSW	1	130,583,705 (GRCm39)	missense	probably damaging	1.00
R8156:C4bp	UTSW	1	130,566,824 (GRCm39)	missense	probably benign	0.06
R8297:C4bp	UTSW	1	130,564,482 (GRCm39)	missense	probably damaging	1.00
R8400:C4bp	UTSW	1	130,564,484 (GRCm39)	missense	probably damaging	1.00
R9424:C4bp	UTSW	1	130,584,912 (GRCm39)	missense	probably damaging	1.00
R9428:C4bp	UTSW	1	130,581,094 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- ACTGTTGGCTGTCCATCTGG -3'
(R):5'- GACTGAATTTCTCTTCCTAGAGGTGG -3'

Sequencing Primer
(F):5'- ATCTGGACTGGTTGCCCAC -3'
(R):5'- GTCACTGTGTCATGTTGTAACATC -3'

Posted On

2018-11-28