Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02926:C4b'

363870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02926

Quality Score

Status

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34730712 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1468 (R1468Q)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069507]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069507
AA Change: R1468Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: R1468Q

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:A2M_N	138	231	2e-19	PFAM
A2M_N_2	470	609	2.87e-26	SMART
ANATO	700	734	3.58e-12	SMART
low complexity region	761	771	N/A	INTRINSIC
A2M	779	867	1.46e-27	SMART
Pfam:Thiol-ester_cl	995	1024	7.7e-13	PFAM
Pfam:A2M_comp	1047	1313	1.3e-82	PFAM
low complexity region	1441	1447	N/A	INTRINSIC
A2M_recep	1475	1564	1.03e-36	SMART
C345C	1608	1720	5.69e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173057

SMART Domains

Protein: ENSMUSP00000134611
Gene: ENSMUSG00000073418

Domain	Start	End	E-Value	Type
Pfam:A2M	1	62	6.5e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173669

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous C4 deficient mice have compromised immune responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,712,366	R921K	probably benign	Het
Alms1	A	T	6: 85,641,450	D2826V	probably damaging	Het
Alpl	C	T	4: 137,742,634	A460T	probably damaging	Het
C2cd5	A	G	6: 143,031,237		probably benign	Het
Calu	A	G	6: 29,366,920	T44A	possibly damaging	Het
Cgn	T	C	3: 94,778,016	K399R	probably benign	Het
Cyp2t4	G	A	7: 27,157,803	V356M	probably damaging	Het
D430041D05Rik	T	C	2: 104,214,259	D683G	probably damaging	Het
Dhcr24	T	A	4: 106,586,355	I410N	probably damaging	Het
Dmap1	T	A	4: 117,681,888	E17V	probably benign	Het
Dnah7a	A	G	1: 53,495,950	I2717T	possibly damaging	Het
Epb41l3	G	T	17: 69,247,746	K280N	probably damaging	Het
Espl1	T	A	15: 102,299,855	M432K	probably damaging	Het
Fgf5	C	A	5: 98,262,015	A141E	probably damaging	Het
Fto	T	A	8: 91,485,167	F373L	probably damaging	Het
Gpatch1	T	C	7: 35,308,269	D122G	probably damaging	Het
Ints11	T	C	4: 155,888,111		probably null	Het
Jarid2	A	G	13: 44,902,929	Q398R	probably benign	Het
Kcnh1	A	G	1: 192,276,900	D254G	probably damaging	Het
Lamc3	C	T	2: 31,935,725		probably benign	Het
Lamc3	C	T	2: 31,935,726		probably benign	Het
Ltbp4	T	C	7: 27,328,872		probably null	Het
Mcm6	A	G	1: 128,339,382	Y575H	probably damaging	Het
Myh9	A	C	15: 77,787,626	Y422D	probably damaging	Het
Narfl	A	G	17: 25,782,154	H460R	probably benign	Het
Olfr1260	T	C	2: 89,978,162	L128P	probably damaging	Het
Olfr1458	A	C	19: 13,102,823	N160K	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,523,725		probably benign	Het
Plcb1	T	C	2: 135,364,762		probably benign	Het
Pmfbp1	A	G	8: 109,520,249	E251G	probably damaging	Het
Psg27	A	T	7: 18,557,129	V383E	probably damaging	Het
Ptprn	A	T	1: 75,247,873	H946Q	possibly damaging	Het
Rbl1	A	G	2: 157,167,413	V734A	probably benign	Het
Rspry1	T	A	8: 94,649,811	N320K	probably damaging	Het
Ryr1	A	T	7: 29,061,540	V3219D	probably damaging	Het
Ryr2	C	A	13: 11,759,835	W1145L	probably damaging	Het
Scel	A	T	14: 103,576,247	R319*	probably null	Het
Stxbp2	C	T	8: 3,635,629	T226I	probably benign	Het
Tac1	A	T	6: 7,562,410	N106I	possibly damaging	Het
Trim13	G	T	14: 61,605,244		probably null	Het
Tspan31	T	G	10: 127,068,909		probably null	Het
Usp36	C	T	11: 118,264,783	V723M	probably benign	Het
Utrn	A	T	10: 12,690,760	N1219K	probably damaging	Het
Vcan	G	T	13: 89,688,623	T2934K	probably damaging	Het

Other mutations in C4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:C4b	APN	17	34734428	missense	probably damaging	1.00
IGL00433:C4b	APN	17	34742041	missense	possibly damaging	0.75
IGL00471:C4b	APN	17	34734429	missense	probably damaging	1.00
IGL00515:C4b	APN	17	34728891	missense	probably damaging	1.00
IGL01599:C4b	APN	17	34743019	splice site	probably benign
IGL01761:C4b	APN	17	34739938	missense	possibly damaging	0.56
IGL02004:C4b	APN	17	34739010	unclassified	probably benign
IGL02215:C4b	APN	17	34734491	missense	probably damaging	1.00
IGL02517:C4b	APN	17	34734408	missense	probably benign	0.01
IGL03031:C4b	APN	17	34731130	missense	possibly damaging	0.47
IGL03057:C4b	APN	17	34737764	unclassified	probably benign
IGL03165:C4b	APN	17	34739955	missense	probably benign	0.13
IGL03380:C4b	APN	17	34740286	missense	probably benign	0.01
FR4548:C4b	UTSW	17	34740997	missense	probably benign	0.00
PIT4142001:C4b	UTSW	17	34733701	missense	probably benign	0.01
R0064:C4b	UTSW	17	34738856	missense	probably damaging	1.00
R0113:C4b	UTSW	17	34741240	missense	probably damaging	0.98
R0143:C4b	UTSW	17	34734219	unclassified	probably benign
R0254:C4b	UTSW	17	34734776	missense	probably benign	0.00
R0320:C4b	UTSW	17	34733161	missense	probably benign	0.01
R0391:C4b	UTSW	17	34735614	splice site	probably benign
R0399:C4b	UTSW	17	34728869	missense	probably damaging	1.00
R0467:C4b	UTSW	17	34736127	missense	probably benign	0.01
R0549:C4b	UTSW	17	34735415	missense	probably damaging	1.00
R0561:C4b	UTSW	17	34734417	missense	probably damaging	0.99
R0662:C4b	UTSW	17	34730888	missense	probably damaging	1.00
R0941:C4b	UTSW	17	34740055	missense	probably benign
R1161:C4b	UTSW	17	34729593	missense	probably damaging	1.00
R1169:C4b	UTSW	17	34742972	missense	probably benign	0.14
R1186:C4b	UTSW	17	34736309	missense	possibly damaging	0.47
R1310:C4b	UTSW	17	34729593	missense	probably damaging	1.00
R1398:C4b	UTSW	17	34730719	unclassified	probably benign
R1472:C4b	UTSW	17	34743769	nonsense	probably null
R1496:C4b	UTSW	17	34740021	missense	probably benign	0.30
R1544:C4b	UTSW	17	34738967	missense	probably benign	0.13
R1588:C4b	UTSW	17	34741025	missense	probably benign
R1645:C4b	UTSW	17	34740597	missense	probably damaging	1.00
R1664:C4b	UTSW	17	34732978	missense	probably damaging	1.00
R1678:C4b	UTSW	17	34743650	missense	probably benign	0.05
R1710:C4b	UTSW	17	34743664	splice site	probably benign
R1713:C4b	UTSW	17	34729271	splice site	probably benign
R1770:C4b	UTSW	17	34736927	missense	possibly damaging	0.78
R1859:C4b	UTSW	17	34735553	missense	probably benign
R1924:C4b	UTSW	17	34729657	missense	probably damaging	1.00
R2057:C4b	UTSW	17	34728620	missense	probably damaging	1.00
R2060:C4b	UTSW	17	34736101	missense	probably damaging	1.00
R2184:C4b	UTSW	17	34737702	missense	probably benign	0.27
R2306:C4b	UTSW	17	34728518	missense	probably benign	0.00
R2363:C4b	UTSW	17	34736058	splice site	probably benign
R2365:C4b	UTSW	17	34736058	splice site	probably benign
R2379:C4b	UTSW	17	34735743	missense	possibly damaging	0.81
R2860:C4b	UTSW	17	34734758	missense	probably damaging	0.99
R2861:C4b	UTSW	17	34734758	missense	probably damaging	0.99
R3551:C4b	UTSW	17	34741872	missense	possibly damaging	0.75
R3765:C4b	UTSW	17	34729840	missense	probably damaging	0.98
R4157:C4b	UTSW	17	34742855	missense	probably damaging	1.00
R4299:C4b	UTSW	17	34731144	missense	possibly damaging	0.52
R4365:C4b	UTSW	17	34734743	missense	possibly damaging	0.65
R4411:C4b	UTSW	17	34728864	missense	probably damaging	1.00
R4613:C4b	UTSW	17	34734551	missense	probably benign	0.12
R4784:C4b	UTSW	17	34733406	missense	probably benign	0.00
R4790:C4b	UTSW	17	34734143	missense	probably benign	0.01
R4831:C4b	UTSW	17	34736890	splice site	probably null
R4879:C4b	UTSW	17	34743647	missense	probably damaging	0.99
R5036:C4b	UTSW	17	34740445	critical splice acceptor site	probably null
R5361:C4b	UTSW	17	34741238	missense	probably benign	0.15
R5384:C4b	UTSW	17	34737661	missense	possibly damaging	0.89
R5518:C4b	UTSW	17	34734442	missense	probably benign	0.00
R5590:C4b	UTSW	17	34740335	missense	probably damaging	0.98
R5643:C4b	UTSW	17	34742417	missense	probably benign	0.01
R5644:C4b	UTSW	17	34742417	missense	probably benign	0.01
R5833:C4b	UTSW	17	34730673	missense	probably damaging	1.00
R5931:C4b	UTSW	17	34729193	missense	probably damaging	0.99
R6178:C4b	UTSW	17	34733406	missense	probably benign	0.00
R6209:C4b	UTSW	17	34741087	missense	possibly damaging	0.93
R6225:C4b	UTSW	17	34738874	missense	possibly damaging	0.64
R6518:C4b	UTSW	17	34734205	missense	probably damaging	0.98
R6613:C4b	UTSW	17	34733565	missense	probably damaging	0.99
R6781:C4b	UTSW	17	34742954	missense	probably damaging	0.99
R6807:C4b	UTSW	17	34730956	missense	probably benign	0.17
R6858:C4b	UTSW	17	34729831	missense	probably damaging	1.00

Posted On

2015-12-18