Mutagenetix > Incidental Mutation

Incidental Mutation 'R4552:C4bp'

333992

Institutional Source

Beutler Lab

Gene Symbol

C4bp

Ensembl Gene

ENSMUSG00000026405

Gene Name

complement component 4 binding protein

Synonyms

MMRRC Submission

041783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130563658-130589394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130564464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 407 (Y407H)

Ref Sequence

ENSEMBL: ENSMUSP00000027657 (fasta)

Gene Model

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

AlphaFold

P08607

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027657
AA Change: Y407H

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: Y407H

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

Meta Mutation Damage Score

0.1407

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Arhgap33	A	T	7: 30,218,533 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Camta1	T	C	4: 151,876,959 (GRCm39)	R79G	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cep128	T	C	12: 91,260,936 (GRCm39)	E309G	probably damaging	Het
Chit1	A	G	1: 134,071,789 (GRCm39)	T100A	probably benign	Het
Dalrd3	A	G	9: 108,449,429 (GRCm39)	D454G	possibly damaging	Het
Ddx19a	G	A	8: 111,705,198 (GRCm39)	Q308*	probably null	Het
Dmxl2	T	C	9: 54,359,047 (GRCm39)	N395S	probably damaging	Het
Dnah17	T	C	11: 117,943,769 (GRCm39)	D3125G	possibly damaging	Het
Dnah5	T	C	15: 28,397,300 (GRCm39)	V3331A	probably benign	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dner	T	C	1: 84,361,578 (GRCm39)	Y677C	probably damaging	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Hid1	G	A	11: 115,249,505 (GRCm39)	T240M	possibly damaging	Het
Igbp1b	T	A	6: 138,635,112 (GRCm39)	M111L	probably benign	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Klk4	C	A	7: 43,533,443 (GRCm39)	H101N	probably benign	Het
Mrgpra2b	C	A	7: 47,113,754 (GRCm39)	S300I	probably benign	Het
Mtss2	A	G	8: 111,465,137 (GRCm39)	T464A	probably damaging	Het
Nbas	T	C	12: 13,385,938 (GRCm39)		probably null	Het
Nif3l1	C	T	1: 58,488,483 (GRCm39)		probably benign	Het
Noct	T	A	3: 51,157,589 (GRCm39)	I309N	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odf2l	A	T	3: 144,856,844 (GRCm39)	T600S	probably benign	Het
Odf4	C	T	11: 68,812,866 (GRCm39)	S264N	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or1m1	A	G	9: 18,666,430 (GRCm39)	V167A	possibly damaging	Het
Or2y1e	A	T	11: 49,218,777 (GRCm39)	M180L	probably benign	Het
Or6c217	T	C	10: 129,737,992 (GRCm39)	M196V	probably benign	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pclo	T	C	5: 14,719,285 (GRCm39)	S1141P	unknown	Het
Plcb1	T	C	2: 135,177,413 (GRCm39)	S582P	probably benign	Het
Ppargc1a	C	T	5: 51,620,557 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,346 (GRCm39)	I416L	probably benign	Het
Rhpn1	G	A	15: 75,585,968 (GRCm39)	R627H	probably benign	Het
Ric8a	G	A	7: 140,441,250 (GRCm39)	G182S	probably damaging	Het
Rims1	T	C	1: 22,443,718 (GRCm39)	D895G	probably damaging	Het
Rrp1b	G	A	17: 32,274,984 (GRCm39)		probably benign	Het
Rtf1	T	A	2: 119,561,210 (GRCm39)	D636E	probably benign	Het
Scn3a	T	C	2: 65,354,523 (GRCm39)	D333G	probably benign	Het
Sema6a	A	G	18: 47,424,990 (GRCm39)	L207P	probably damaging	Het
Shcbp1	A	T	8: 4,799,779 (GRCm39)	Y160*	probably null	Het
Slc27a1	A	T	8: 72,032,710 (GRCm39)		probably null	Het
Ston2	C	T	12: 91,608,646 (GRCm39)	R818Q	probably damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tjap1	A	T	17: 46,570,953 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,517 (GRCm39)	F177Y	probably damaging	Het
Vmn1r57	A	G	7: 5,223,667 (GRCm39)	D64G	possibly damaging	Het
Vmn2r73	T	A	7: 85,525,055 (GRCm39)	D31V	probably benign	Het
Vmn2r-ps41	A	T	7: 9,180,063 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- GTTCTATGCCAACTCCCCAAATG -3'
(R):5'- GCATACACTGTCACAAATGTTCAAC -3'

Sequencing Primer
(F):5'- TATGCCAACTCCCCAAATGACATG -3'
(R):5'- AGCTACTTCAAGTTCAGTTCATTC -3'

Posted On

2015-08-18