Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03061:C4bp'

409444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C4bp

Ensembl Gene

ENSMUSG00000026405

Gene Name

complement component 4 binding protein

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03061

Quality Score

Status

Chromosome

Chromosomal Location

130563658-130589394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130564454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 410 (V410A)

Ref Sequence

ENSEMBL: ENSMUSP00000027657 (fasta)

Gene Model

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

AlphaFold

P08607

Predicted Effect

probably damaging
Transcript: ENSMUST00000027657
AA Change: V410A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: V410A

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 benign
Transcript: ENSMUST00000171642

SMART Domains

Protein: ENSMUSP00000130533
Gene: ENSMUSG00000026405

Domain	Start	End	E-Value	Type
CCP	16	75	4.59e-10	SMART
CCP	80	124	1.38e0	SMART
CCP	125	177	7.28e-13	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	A	8: 46,961,374 (GRCm39)	N106K	probably damaging	Het
Ak8	T	C	2: 28,632,767 (GRCm39)		probably benign	Het
BC016579	C	T	16: 45,449,849 (GRCm39)	G190S	probably damaging	Het
Cacna2d3	T	C	14: 28,780,388 (GRCm39)	T658A	probably damaging	Het
Cadps2	T	C	6: 23,287,659 (GRCm39)		probably null	Het
Car10	G	T	11: 93,381,351 (GRCm39)	V105F	probably damaging	Het
Car15	C	T	16: 17,653,249 (GRCm39)	C306Y	possibly damaging	Het
Casr	C	T	16: 36,316,250 (GRCm39)	A530T	probably benign	Het
Col5a3	A	G	9: 20,708,868 (GRCm39)		probably null	Het
Creld1	A	G	6: 113,465,058 (GRCm39)	E95G	probably damaging	Het
Dcstamp	T	A	15: 39,623,793 (GRCm39)	D366E	possibly damaging	Het
Dnah11	T	C	12: 117,866,856 (GRCm39)	Y4095C	probably damaging	Het
Eps8l2	A	G	7: 140,937,148 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,172,471 (GRCm39)		probably benign	Het
Ifi27l2a	T	C	12: 103,401,803 (GRCm39)	V30A	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,124 (GRCm39)	R164Q	probably benign	Het
Impg2	T	C	16: 56,088,779 (GRCm39)	S1102P	probably damaging	Het
Kif24	G	T	4: 41,394,323 (GRCm39)	P984Q	possibly damaging	Het
Krtap29-1	T	A	11: 99,869,455 (GRCm39)	Q142L	possibly damaging	Het
Lpar6	C	T	14: 73,476,510 (GRCm39)	T157I	probably benign	Het
Lrrc32	A	T	7: 98,148,629 (GRCm39)	T470S	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mroh9	A	T	1: 162,854,071 (GRCm39)	H776Q	probably damaging	Het
Myh7	T	C	14: 55,228,661 (GRCm39)		probably benign	Het
Myh7b	A	G	2: 155,462,031 (GRCm39)	N309S	possibly damaging	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Myo5b	G	A	18: 74,713,615 (GRCm39)		probably benign	Het
Npas4	C	T	19: 5,036,365 (GRCm39)	V600M	probably damaging	Het
Nrxn3	T	A	12: 89,478,698 (GRCm39)	Y557*	probably null	Het
Or2aj4	T	C	16: 19,385,463 (GRCm39)	T57A	possibly damaging	Het
Or52k2	A	G	7: 102,253,946 (GRCm39)	I128M	probably damaging	Het
Or8g53	T	A	9: 39,683,458 (GRCm39)	T213S	probably benign	Het
Pcdh15	A	G	10: 74,152,843 (GRCm39)	I383V	probably damaging	Het
Pdzrn3	C	A	6: 101,128,816 (GRCm39)	D617Y	probably damaging	Het
Prodh2	A	T	7: 30,212,258 (GRCm39)	K408*	probably null	Het
Ptprs	T	C	17: 56,725,830 (GRCm39)	I1052V	probably damaging	Het
Rpl14	T	C	9: 120,401,193 (GRCm39)	V12A	probably damaging	Het
Sf3a1	C	T	11: 4,125,493 (GRCm39)	R428C	probably damaging	Het
Sgsm2	G	T	11: 74,741,962 (GRCm39)	N1009K	probably damaging	Het
Slc28a2	A	T	2: 122,284,980 (GRCm39)	I323F	probably damaging	Het
Snx19	T	A	9: 30,344,928 (GRCm39)	F676I	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tg	A	C	15: 66,543,254 (GRCm39)	D56A	probably damaging	Het
Tln1	G	T	4: 43,545,694 (GRCm39)	A928E	probably damaging	Het
Tmem94	T	C	11: 115,683,247 (GRCm39)	S677P	possibly damaging	Het
Ttc41	C	A	10: 86,572,721 (GRCm39)	H698N	possibly damaging	Het
Vcan	T	C	13: 89,851,394 (GRCm39)	T1189A	probably benign	Het
Vmn1r215	G	T	13: 23,260,088 (GRCm39)	V43F	probably damaging	Het
Vmn2r28	A	T	7: 5,487,015 (GRCm39)	N549K	probably damaging	Het
Zfp598	T	C	17: 24,898,566 (GRCm39)	V455A	probably benign	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
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
R6964:C4bp	UTSW	1	130,585,009 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2016-08-02