Mutagenetix > Incidental Mutation

Incidental Mutation 'R4790:C4b'

368518

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

MMRRC Submission

042418-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4790 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34734143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1069 (D1069E)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably benign
Transcript: ENSMUST00000069507
AA Change: D1069E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: D1069E

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	A	6: 48,930,552	I162N	probably damaging	Het
Abca5	T	G	11: 110,311,410	T390P	possibly damaging	Het
Acss3	A	T	10: 107,023,702	Y345*	probably null	Het
Adam26b	A	T	8: 43,520,727	S413T	probably benign	Het
Angpt2	T	A	8: 18,714,082	Q148L	probably damaging	Het
Ank3	T	A	10: 69,988,151	Y883*	probably null	Het
Ankrd52	A	G	10: 128,380,945	K190E	possibly damaging	Het
Anks1b	A	G	10: 90,163,275	R415G	probably damaging	Het
Ano3	T	A	2: 110,884,919	Q58L	probably benign	Het
Arhgap39	A	T	15: 76,726,731	M924K	possibly damaging	Het
AU040320	A	G	4: 126,847,215	M910V	possibly damaging	Het
BC051019	T	A	7: 109,716,346	H86L	probably benign	Het
C1qbp	G	A	11: 70,980,030	Q151*	probably null	Het
C77080	C	A	4: 129,223,302	R523L	probably damaging	Het
Casp1	C	T	9: 5,303,020	T158I	probably benign	Het
Casq1	T	C	1: 172,216,837	D141G	probably damaging	Het
Ccdc33	T	A	9: 58,029,957	E653V	probably damaging	Het
Cd180	C	T	13: 102,702,822	T71M	probably damaging	Het
Cdk4	T	C	10: 127,064,701	L112P	probably damaging	Het
Celf2	A	G	2: 6,549,903	F425S	probably damaging	Het
Chrm3	A	T	13: 9,877,662	V446E	probably benign	Het
Chst9	A	T	18: 15,453,050	L152H	probably damaging	Het
Cib2	A	G	9: 54,549,803		probably null	Het
Clec18a	T	C	8: 111,072,085	S366G	probably damaging	Het
Crebbp	A	G	16: 4,180,119	F34L	probably damaging	Het
Dapk1	AT	A	13: 60,723,105		probably null	Het
Ddi1	T	A	9: 6,265,761	M203L	probably benign	Het
Ddx20	G	T	3: 105,683,169	S270R	probably benign	Het
Epp13	A	T	7: 6,266,318	K31*	probably null	Het
Espnl	A	T	1: 91,344,424	E458V	probably damaging	Het
Fat3	T	C	9: 15,998,484	D2074G	probably damaging	Het
Fcf1	A	G	12: 84,974,128	T61A	probably benign	Het
Fkbp15	T	C	4: 62,307,997	R772G	probably benign	Het
Flnb	T	C	14: 7,905,661	V1137A	probably benign	Het
Fosb	C	A	7: 19,309,388	C15F	probably damaging	Het
Frem2	A	T	3: 53,516,741	W3092R	probably benign	Het
Gm3248	T	C	14: 5,945,831	I28V	probably damaging	Het
Gm4922	G	T	10: 18,784,168	L269I	possibly damaging	Het
Gucy2e	G	A	11: 69,228,448	R627W	probably damaging	Het
Hephl1	T	A	9: 15,059,171	E1009V	probably damaging	Het
Hsf4	A	T	8: 105,270,605	Q61L	probably damaging	Het
Itgam	T	A	7: 128,116,273	N1046K	probably benign	Het
Itgav	G	A	2: 83,755,810	C138Y	probably damaging	Het
Itih4	A	T	14: 30,889,910	Y157F	probably damaging	Het
Kcnt2	C	T	1: 140,354,516	R80C	probably damaging	Het
Kdm4b	G	A	17: 56,401,618	V986M	probably damaging	Het
Lamb3	T	A	1: 193,339,886	V1014D	probably damaging	Het
Lrrc74b	G	T	16: 17,549,853	N282K	probably damaging	Het
Map3k20	T	A	2: 72,441,704	H725Q	probably benign	Het
Mink1	A	G	11: 70,599,041	N81S	probably damaging	Het
Mmp21	A	G	7: 133,675,030	Y415H	probably damaging	Het
Mycbp2	A	T	14: 103,229,437	W1297R	probably damaging	Het
Myh8	T	C	11: 67,279,963	M95T	probably damaging	Het
Myo7b	A	T	18: 32,000,105		probably null	Het
Nanog	A	G	6: 122,707,915	M20V	probably benign	Het
Ncapd3	A	G	9: 27,051,850	I484V	probably benign	Het
Ndufa12	A	T	10: 94,220,758	N116I	probably benign	Het
Nedd4l	A	G	18: 65,203,945	I668V	possibly damaging	Het
Nobox	T	C	6: 43,305,546	D309G	probably benign	Het
Npnt	A	G	3: 132,890,762		probably benign	Het
Nrxn1	A	C	17: 90,455,049	Y2D	possibly damaging	Het
Obox6	G	T	7: 15,834,577	P125T	possibly damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1079	T	C	2: 86,538,880	T10A	possibly damaging	Het
Olfr1193	T	A	2: 88,678,387	N177K	possibly damaging	Het
Olfr1436	A	G	19: 12,298,941	Y64H	possibly damaging	Het
Olfr202	A	T	16: 59,284,458	V13D	probably damaging	Het
Olfr679	T	C	7: 105,086,637		probably benign	Het
Olfr697	C	G	7: 106,741,791	V48L	probably benign	Het
Olfr761	T	C	17: 37,952,742	Y94C	probably damaging	Het
Osm	A	T	11: 4,238,435	M21L	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otud4	T	G	8: 79,666,773	S493A	possibly damaging	Het
Pars2	A	G	4: 106,651,111		probably benign	Het
Phlda3	T	A	1: 135,766,819	V124E	possibly damaging	Het
Pias4	T	C	10: 81,157,492	D199G	probably damaging	Het
Pm20d1	T	C	1: 131,812,039	L375P	probably benign	Het
Pole2	T	C	12: 69,226,365	I48V	probably benign	Het
Prrc2c	T	C	1: 162,710,481	R527G	unknown	Het
Rasgrf2	G	T	13: 91,988,016	N592K	probably damaging	Het
Rbm7	A	G	9: 48,495,174	L26P	probably damaging	Het
Rhag	A	G	17: 40,831,290	H208R	probably benign	Het
Rnf17	A	G	14: 56,434,355	E268G	probably damaging	Het
Rnf220	A	G	4: 117,289,055	V23A	probably benign	Het
Rnf7	A	T	9: 96,478,419	V55D	probably damaging	Het
Sdr9c7	C	A	10: 127,903,579	R188S	possibly damaging	Het
Senp6	T	A	9: 80,089,858	N51K	probably benign	Het
Skint3	C	A	4: 112,255,898	T235K	possibly damaging	Het
Slc10a5	A	G	3: 10,335,036	F188S	probably damaging	Het
Slc41a1	G	A	1: 131,830,952	G111R	probably damaging	Het
Smarca1	T	C	X: 47,884,067	D132G	probably null	Het
Snrnp48	C	T	13: 38,221,323	R299W	probably damaging	Het
Sspo	G	A	6: 48,460,771	G1413D	probably benign	Het
Star	T	A	8: 25,808,616	H16Q	probably damaging	Het
Strc	T	C	2: 121,375,594	D779G	probably benign	Het
Sulf2	T	C	2: 166,089,295	Y264C	probably damaging	Het
Supt7l	A	G	5: 31,522,904	S6P	possibly damaging	Het
Syne2	A	G	12: 76,020,391	D4289G	probably benign	Het
Szrd1	A	T	4: 141,139,690		probably null	Het
Tada1	T	C	1: 166,391,954	V275A	possibly damaging	Het
Tbr1	A	T	2: 61,811,588	Y136F	probably benign	Het
Tbx20	T	A	9: 24,725,714	H359L	probably benign	Het
Thbs4	G	T	13: 92,762,806	D560E	probably damaging	Het
Tnfsf14	T	C	17: 57,190,740	H164R	probably damaging	Het
Trmu	T	C	15: 85,882,805	S72P	probably damaging	Het
Tsnaxip1	C	A	8: 105,833,523	Q36K	probably benign	Het
Ttc28	T	A	5: 111,224,217	M844K	possibly damaging	Het
Tubgcp2	T	C	7: 139,999,288	Y695C	probably damaging	Het
Ugt1a10	T	A	1: 88,056,287	M269K	probably damaging	Het
Urb1	A	T	16: 90,769,555	L1448*	probably null	Het
Vmn2r124	A	T	17: 18,049,593	H37L	probably damaging	Het
Vmn2r44	T	C	7: 8,367,950	N699S	probably damaging	Het
Vps35	A	T	8: 85,278,857		probably null	Het
Yipf1	G	T	4: 107,336,199		probably null	Het
Zfp395	A	G	14: 65,386,541	N153S	possibly damaging	Het
Zfp395	A	G	14: 65,393,207	D402G	probably damaging	Het
Zfp652	T	C	11: 95,749,609	V120A	probably damaging	Het
Zp3r	T	C	1: 130,582,892	I364M	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
IGL02926:C4b	APN	17	34730712	missense	possibly damaging	0.95
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
Aspiration	UTSW	17	34734442	missense	probably benign	0.00
Inspiration	UTSW	17	34732166	splice site	probably null
Peroration	UTSW	17	34729399	critical splice donor site	probably null
perspiration	UTSW	17	34729831	missense	probably damaging	1.00
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
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
R6962:C4b	UTSW	17	34732166	splice site	probably null
R7068:C4b	UTSW	17	34733477	missense	probably damaging	1.00
R7081:C4b	UTSW	17	34735443	missense	probably benign	0.27
R7105:C4b	UTSW	17	34730911	missense	possibly damaging	0.52
R7211:C4b	UTSW	17	34735534	missense	possibly damaging	0.92
R7296:C4b	UTSW	17	34743659	missense	probably damaging	1.00
R7314:C4b	UTSW	17	34740356	missense	probably benign
R7330:C4b	UTSW	17	34730472	missense	probably damaging	1.00
R7397:C4b	UTSW	17	34742390	missense	possibly damaging	0.80
R7437:C4b	UTSW	17	34734733	missense	probably benign	0.10
R7490:C4b	UTSW	17	34731080	nonsense	probably null
R7597:C4b	UTSW	17	34739675	missense	probably benign
R7633:C4b	UTSW	17	34729399	critical splice donor site	probably null
R7900:C4b	UTSW	17	34739777	missense	probably benign	0.03
R7910:C4b	UTSW	17	34740352	missense	probably benign	0.00
R7923:C4b	UTSW	17	34742380	missense	probably damaging	1.00
R7960:C4b	UTSW	17	34741278	splice site	probably null
R8420:C4b	UTSW	17	34734539	missense	probably damaging	0.97
R8467:C4b	UTSW	17	34732813	missense	possibly damaging	0.51
R8558:C4b	UTSW	17	34736567	missense	probably damaging	1.00
R8725:C4b	UTSW	17	34734485	missense	probably damaging	1.00
R8727:C4b	UTSW	17	34734485	missense	probably damaging	1.00
R8853:C4b	UTSW	17	34729905	missense	possibly damaging	0.91
R8934:C4b	UTSW	17	34732984	missense	possibly damaging	0.78
R8944:C4b	UTSW	17	34742939	missense	probably benign	0.00
R8960:C4b	UTSW	17	34733918	missense	probably damaging	1.00
R8982:C4b	UTSW	17	34734364	critical splice donor site	probably null
R9104:C4b	UTSW	17	34729259	missense	probably benign	0.39
R9114:C4b	UTSW	17	34729430	missense	probably damaging	0.99
R9348:C4b	UTSW	17	34733185	missense	probably benign	0.01
R9428:C4b	UTSW	17	34730911	missense	possibly damaging	0.52
R9533:C4b	UTSW	17	34737724	nonsense	probably null
R9591:C4b	UTSW	17	34738955	missense	probably benign	0.00
R9678:C4b	UTSW	17	34741789	critical splice donor site	probably null
Z1176:C4b	UTSW	17	34731147	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGACTGGACATGGGTCGTG -3'
(R):5'- TGAAACAAAGGACCATGCTGTG -3'

Sequencing Primer
(F):5'- TCGTGGAAGGAGCCATCAC -3'
(R):5'- TCTGATCCAAAAAGGTTCTGGG -3'

Posted On

2016-02-04