Mutagenetix > Incidental Mutation

Incidental Mutation 'R5620:C4bp'

439758

Institutional Source

Beutler Lab

Gene Symbol

C4bp

Ensembl Gene

ENSMUSG00000026405

Gene Name

complement component 4 binding protein

Synonyms

MMRRC Submission

043160-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5620 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130563658-130589394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130581090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 140 (S140P)

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: S140P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: S140P

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: S140P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121185
Gene: ENSMUSG00000026405
AA Change: S140P

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190624

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,246,826 (GRCm39)	S511A	probably benign	Het
Abca3	C	T	17: 24,615,444 (GRCm39)	T845I	probably benign	Het
Acaa2	G	A	18: 74,938,945 (GRCm39)	A377T	possibly damaging	Het
Adcy4	C	A	14: 56,009,824 (GRCm39)	E743*	probably null	Het
Ahnak	T	A	19: 8,990,458 (GRCm39)	L3914*	probably null	Het
Akap1	G	T	11: 88,736,343 (GRCm39)	N106K	possibly damaging	Het
Arid2	C	T	15: 96,270,387 (GRCm39)	T1500I	probably benign	Het
Atp6v0a2	T	A	5: 124,783,909 (GRCm39)	Y252*	probably null	Het
Cald1	A	G	6: 34,739,047 (GRCm39)	I384M	probably damaging	Het
Cdk12	A	G	11: 98,101,809 (GRCm39)	I556V	unknown	Het
Chmp2a	T	C	7: 12,766,237 (GRCm39)	S174G	probably benign	Het
Clybl	T	A	14: 122,548,755 (GRCm39)	N52K	probably damaging	Het
Cyp4a29	C	A	4: 115,108,088 (GRCm39)	S303R	probably benign	Het
Dab2	T	A	15: 6,447,796 (GRCm39)	D59E	probably damaging	Het
Dag1	C	A	9: 108,086,214 (GRCm39)	R309L	probably damaging	Het
Dync1i2	T	A	2: 71,088,483 (GRCm39)	M505K	probably benign	Het
Eif2b1	A	T	5: 124,717,075 (GRCm39)	M1K	probably null	Het
Epc1	A	G	18: 6,448,917 (GRCm39)	S577P	probably benign	Het
Eps8l1	T	A	7: 4,463,945 (GRCm39)	I23N	possibly damaging	Het
Etl4	A	G	2: 20,535,037 (GRCm39)	E164G	probably damaging	Het
Firrm	C	A	1: 163,789,613 (GRCm39)	G641*	probably null	Het
Gadl1	A	T	9: 115,766,230 (GRCm39)	M1L	probably benign	Het
Gda	T	C	19: 21,374,908 (GRCm39)	D336G	probably damaging	Het
Grm2	A	T	9: 106,527,645 (GRCm39)	V413D	probably damaging	Het
Hnrnpll	G	T	17: 80,346,051 (GRCm39)	N403K	probably damaging	Het
Ifit1	T	A	19: 34,625,238 (GRCm39)	F125I	probably damaging	Het
Igkv5-43	C	T	6: 69,800,892 (GRCm39)	V2I	probably benign	Het
Kat5	A	C	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Klc2	A	G	19: 5,162,884 (GRCm39)	V205A	probably damaging	Het
Klrb1c	T	A	6: 128,761,706 (GRCm39)	T133S	possibly damaging	Het
Krt20	A	G	11: 99,326,283 (GRCm39)	L157P	probably damaging	Het
Krt26	G	T	11: 99,228,597 (GRCm39)	T45N	possibly damaging	Het
Lama2	C	T	10: 26,866,876 (GRCm39)	D2873N	probably damaging	Het
Lig1	T	A	7: 13,020,532 (GRCm39)	C114S	possibly damaging	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Maml2	A	T	9: 13,608,616 (GRCm39)	R21S	probably damaging	Het
Mrpl35	C	T	6: 71,794,720 (GRCm39)	V83I	probably benign	Het
Myo3b	A	G	2: 70,069,254 (GRCm39)	R498G	probably benign	Het
Nup153	C	A	13: 46,837,482 (GRCm39)	E1247*	probably null	Het
Or2t48	A	T	11: 58,420,557 (GRCm39)	M85K	probably damaging	Het
Pcdhac2	A	G	18: 37,277,257 (GRCm39)	N79S	probably benign	Het
Pcgf6	C	T	19: 47,036,406 (GRCm39)	G221D	probably damaging	Het
Phf11b	C	T	14: 59,558,953 (GRCm39)	D260N	probably benign	Het
Pla2g5	T	C	4: 138,531,921 (GRCm39)	M28V	possibly damaging	Het
Prpf8	T	C	11: 75,395,927 (GRCm39)	S1934P	possibly damaging	Het
Prr5	A	G	15: 84,640,570 (GRCm39)	S140G	probably benign	Het
Prrc2c	T	C	1: 162,501,098 (GRCm39)	D1235G	probably damaging	Het
Rasgrp2	T	C	19: 6,455,031 (GRCm39)	S254P	probably damaging	Het
Rassf8	C	T	6: 145,765,907 (GRCm39)		probably benign	Het
Rgs20	T	A	1: 4,982,666 (GRCm39)	E167D	probably damaging	Het
Rmnd1	G	T	10: 4,372,159 (GRCm39)	A180E	probably damaging	Het
Rnf103	A	G	6: 71,486,992 (GRCm39)	D541G	probably benign	Het
Rpl9	G	T	5: 65,546,468 (GRCm39)	Q140K	probably benign	Het
Sfmbt1	T	G	14: 30,506,148 (GRCm39)		probably null	Het
Shank1	C	A	7: 43,962,160 (GRCm39)	D10E	unknown	Het
Srrm4	G	T	5: 116,587,672 (GRCm39)		probably benign	Het
Sucla2	T	A	14: 73,832,836 (GRCm39)	V447E	probably damaging	Het
Tbc1d1	A	G	5: 64,331,055 (GRCm39)	D78G	probably benign	Het
Tcp1	T	A	17: 13,138,224 (GRCm39)		probably null	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Thsd7b	G	A	1: 130,090,673 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,797,811 (GRCm39)	M621V	probably benign	Het
Tnxb	A	T	17: 34,936,504 (GRCm39)	K2756*	probably null	Het
Trpm8	G	A	1: 88,287,373 (GRCm39)		probably null	Het
Txndc16	C	A	14: 45,373,335 (GRCm39)	V764F	possibly damaging	Het
Ush2a	A	T	1: 188,492,020 (GRCm39)	D3103V	possibly damaging	Het
Usp22	A	T	11: 61,049,206 (GRCm39)	I381N	probably damaging	Het
Zfp462	T	A	4: 55,013,464 (GRCm39)	M1810K	probably benign	Het
Zfp64	T	A	2: 168,741,888 (GRCm39)	M347L	possibly damaging	Het
Zfp69	T	C	4: 120,787,719 (GRCm39)	D532G	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
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'- AGATGGGATCAAAGTGAGAATTCTC -3'
(R):5'- AGTCAGACTCAGACGAACATG -3'

Sequencing Primer
(F):5'- AGTTTTTATATCTCAATTGCTCCCC -3'
(R):5'- CAGACGAACATGACTCTAAACATTAG -3'

Posted On

2016-11-08