Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02903:C4bp'

363691

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C4bp

Ensembl Gene

ENSMUSG00000026405

Gene Name

complement component 4 binding protein

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02903

Quality Score

Status

Chromosome

Chromosomal Location

130634773-130661632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130655985 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 82 (T82I)

Ref Sequence

ENSEMBL: ENSMUSP00000121185 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027657
AA Change: T82I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027657
Gene: ENSMUSG00000026405
AA Change: T82I

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: T82I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121185
Gene: ENSMUSG00000026405
AA Change: T82I

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

noncoding transcript
Transcript: ENSMUST00000190624

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	T	15: 8,269,779	R3150S	unknown	Het
2410089E03Rik	G	T	15: 8,269,778	R3150M	unknown	Het
4931417E11Rik	A	G	6: 73,469,120	Y149H	probably damaging	Het
Alox5	T	G	6: 116,420,335	N296T	probably damaging	Het
Anks6	C	T	4: 47,045,004	E301K	probably damaging	Het
Astn1	A	G	1: 158,688,550	S1237G	probably damaging	Het
Atf6	G	A	1: 170,799,714	P394S	probably benign	Het
Atp4a	G	A	7: 30,715,919	M321I	probably benign	Het
Cask	A	T	X: 13,552,447		probably benign	Het
Cenpf	A	T	1: 189,646,876	S2906T	probably damaging	Het
Cfl1	T	C	19: 5,492,800	F103L	probably benign	Het
Chrnb3	A	T	8: 27,386,806	T83S	probably damaging	Het
Cmtr2	A	G	8: 110,222,878	T607A	probably benign	Het
Cts7	A	T	13: 61,356,626		probably benign	Het
Dgkz	A	T	2: 91,939,962	Y514N	possibly damaging	Het
Dmrtc1b	T	A	X: 102,713,567	L206Q	probably benign	Het
Dus3l	C	T	17: 56,768,363	L397F	probably damaging	Het
Fam159b	T	A	13: 104,863,610	Y35F	probably benign	Het
Gm13089	A	T	4: 143,699,166	M69K	probably benign	Het
Gm6356	C	T	14: 6,973,735	G27E	probably damaging	Het
Hkdc1	C	T	10: 62,400,191		probably null	Het
Kcmf1	A	T	6: 72,858,883	V21E	possibly damaging	Het
Kcnh4	T	A	11: 100,757,654	T75S	possibly damaging	Het
Lemd2	A	G	17: 27,193,210		probably benign	Het
Magee1	G	T	X: 105,123,339	R910L	probably damaging	Het
Mcm3ap	T	C	10: 76,471,258		probably benign	Het
Mfsd4b3	T	A	10: 39,947,643	E207V	possibly damaging	Het
Olfr1354	A	G	10: 78,917,416	D192G	probably damaging	Het
Olfr697	A	G	7: 106,741,710	S75P	probably damaging	Het
Pappa	T	C	4: 65,261,980	V1026A	probably damaging	Het
Paxip1	A	G	5: 27,748,872	L942P	probably damaging	Het
Ppp1r12b	A	T	1: 134,955,649	L45Q	probably benign	Het
Ptprq	T	C	10: 107,666,586	T824A	possibly damaging	Het
Rfwd3	T	C	8: 111,278,229	T574A	probably benign	Het
Rsbn1	T	C	3: 103,928,569	S308P	probably damaging	Het
Smr2	A	T	5: 88,108,630	I56F	probably benign	Het
Wdfy4	C	T	14: 33,109,650	R873H	probably 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
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
R8400:C4bp	UTSW	1	130636747	missense	probably damaging	1.00

Posted On

2015-12-18