Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:C4bp'

647795

Institutional Source

Beutler Lab

Gene Symbol

C4bp

Ensembl Gene

ENSMUSG00000026405

Gene Name

complement component 4 binding protein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130634773-130661632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130636747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 400 (C400F)

Ref Sequence

ENSEMBL: ENSMUSP00000027657 (fasta)

Gene Model

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

AlphaFold

P08607

Predicted Effect

probably damaging
Transcript: ENSMUST00000027657
AA Change: C400F

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

SMART Domains

Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: C400F

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,293,925	M1929I	probably benign	Het
Abca13	T	C	11: 9,298,218	I2655T	probably damaging	Het
Acad10	A	G	5: 121,626,205	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,172	E161G	possibly damaging	Het
Astn1	C	T	1: 158,657,100	P919L	probably benign	Het
Atp1a4	T	A	1: 172,234,494	D688V	probably damaging	Het
Col6a6	A	C	9: 105,774,796	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
Cutc	T	C	19: 43,753,205	S15P	probably benign	Het
Dgkb	T	C	12: 38,602,838		probably null	Het
Disc1	T	C	8: 125,232,993	V748A	probably benign	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dmxl2	T	C	9: 54,383,753	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,438,816	N243K	probably benign	Het
Fchsd2	A	T	7: 101,253,573	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,643,417	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,470,477	R59C	probably damaging	Het
Ier5l	A	G	2: 30,473,093	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,497,092	T906K	probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,810,476	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,565,006	M784L	probably benign	Het
Nlrp9b	T	A	7: 20,024,012	C391*	probably null	Het
Nubp2	A	C	17: 24,884,465	M146R	probably damaging	Het
Olfr1295	A	T	2: 111,565,402	L14H	probably damaging	Het
Olfr1359	G	A	13: 21,703,915	V305M	probably benign	Het
Olfr1419	T	A	19: 11,871,214	M1L	probably damaging	Het
Olfr43	C	T	11: 74,206,395	V274M	possibly damaging	Het
Olfr694	T	A	7: 106,689,669	S21C	probably benign	Het
Olfr857	A	T	9: 19,713,093	N89Y	probably benign	Het
Otud1	T	C	2: 19,658,378	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,092,400	Y755*	probably null	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,572		probably benign	Het
Samhd1	T	C	2: 157,099,433	E648G	probably benign	Het
Smarca5	T	C	8: 80,709,127	T794A	probably benign	Het
Spc24	A	T	9: 21,757,730	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Stra6l	G	A	4: 45,864,905	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,848,649	V472M	probably benign	Het
Tsc2	A	T	17: 24,604,987	I948K	possibly damaging	Het
Ttc39d	T	C	17: 80,216,005	V31A	probably benign	Het
Vmn1r158	A	T	7: 22,789,880	C301*	probably null	Het
Vmn2r22	A	T	6: 123,637,527	L368*	probably null	Het
Vmn2r79	A	G	7: 87,002,100	T236A	probably benign	Het
Vwa1	T	C	4: 155,772,768	H191R	probably benign	Het
Zdbf2	T	A	1: 63,304,976	V838E	possibly damaging	Het

Other mutations in C4bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:C4bp	APN	1	130639134	missense	probably damaging	1.00
IGL01349:C4bp	APN	1	130642928	intron	probably benign
IGL01401:C4bp	APN	1	130648064	missense	possibly damaging	0.95
IGL02252:C4bp	APN	1	130636787	missense	probably damaging	1.00
IGL02903:C4bp	APN	1	130655985	missense	probably damaging	1.00
IGL02958:C4bp	APN	1	130636795	missense	probably damaging	1.00
IGL03061:C4bp	APN	1	130636717	missense	probably damaging	0.98
PIT4434001:C4bp	UTSW	1	130657210	missense	probably benign	0.14
R0989:C4bp	UTSW	1	130643053	missense	probably benign	0.02
R1728:C4bp	UTSW	1	130642988	missense	probably benign	0.04
R1729:C4bp	UTSW	1	130642988	missense	probably benign	0.04
R1730:C4bp	UTSW	1	130642988	missense	probably benign	0.04
R1739:C4bp	UTSW	1	130642988	missense	probably benign	0.04
R1762:C4bp	UTSW	1	130642988	missense	probably benign	0.04
R1783:C4bp	UTSW	1	130642988	missense	probably benign	0.04
R1784:C4bp	UTSW	1	130642988	missense	probably benign	0.04
R1785:C4bp	UTSW	1	130642988	missense	probably benign	0.04
R1942:C4bp	UTSW	1	130656067	splice site	probably benign
R2006:C4bp	UTSW	1	130648032	nonsense	probably null
R3877:C4bp	UTSW	1	130648027	critical splice donor site	probably null
R4446:C4bp	UTSW	1	130642955	missense	probably benign	0.06
R4551:C4bp	UTSW	1	130636727	missense	possibly damaging	0.46
R4552:C4bp	UTSW	1	130636727	missense	possibly damaging	0.46
R4727:C4bp	UTSW	1	130639185	missense	probably benign	0.19
R4761:C4bp	UTSW	1	130653421	missense	possibly damaging	0.83
R5620:C4bp	UTSW	1	130653353	missense	probably damaging	1.00
R6110:C4bp	UTSW	1	130639072	nonsense	probably null
R6189:C4bp	UTSW	1	130636819	missense	probably damaging	1.00
R6344:C4bp	UTSW	1	130656015	missense	probably benign	0.12
R6418:C4bp	UTSW	1	130656013	missense	probably damaging	1.00
R6895:C4bp	UTSW	1	130636206	makesense	probably null
R6964:C4bp	UTSW	1	130657272	missense	probably damaging	0.97
R8051:C4bp	UTSW	1	130655968	missense	probably damaging	1.00
R8156:C4bp	UTSW	1	130639087	missense	probably benign	0.06
R8297:C4bp	UTSW	1	130636745	missense	probably damaging	1.00
R9424:C4bp	UTSW	1	130657175	missense	probably damaging	1.00
R9428:C4bp	UTSW	1	130653357	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

2020-09-02