Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:C4b'

22469

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 34734219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably benign
Transcript: ENSMUST00000069507

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418

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: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,855,217 (GRCm38)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,119,313 (GRCm38)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,439,760 (GRCm38)	E500G	probably damaging	Het
Arhgef12	T	C	9: 43,005,594 (GRCm38)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,647,334 (GRCm38)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,280,392 (GRCm38)	E47K	probably benign	Het
Cacna1e	A	T	1: 154,448,947 (GRCm38)		probably null	Het
Cdh3	T	C	8: 106,511,225 (GRCm38)	V17A	probably benign	Het
Cog7	A	T	7: 121,951,164 (GRCm38)	L379Q	probably damaging	Het
Cul9	T	C	17: 46,526,410 (GRCm38)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,635,874 (GRCm38)	D258N	probably damaging	Het
Ddx39	T	C	8: 83,720,550 (GRCm38)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,272,364 (GRCm38)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,714,215 (GRCm38)	T334A	probably benign	Het
Dsg3	T	C	18: 20,536,825 (GRCm38)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,486,482 (GRCm38)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,897,243 (GRCm38)	R78C	probably benign	Het
Fes	A	C	7: 80,383,895 (GRCm38)	F203V	probably benign	Het
Fhad1	C	A	4: 141,929,646 (GRCm38)		probably benign	Het
Gjb2	T	C	14: 57,100,069 (GRCm38)		silent	Het
Gm5828	T	C	1: 16,768,355 (GRCm38)		noncoding transcript	Het
Gsdma	A	C	11: 98,666,254 (GRCm38)	E65A	probably damaging	Het
Hck	T	A	2: 153,134,220 (GRCm38)		probably null	Het
Henmt1	A	T	3: 108,953,802 (GRCm38)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,129,355 (GRCm38)	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,814,192 (GRCm38)		probably benign	Het
Igsf3	T	C	3: 101,435,601 (GRCm38)	I518T	probably damaging	Het
Ireb2	T	C	9: 54,885,909 (GRCm38)	F223L	probably benign	Het
Isoc2a	T	C	7: 4,891,332 (GRCm38)		probably null	Het
Krt73	T	A	15: 101,800,773 (GRCm38)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,963,535 (GRCm38)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,593,942 (GRCm38)	F420L	probably damaging	Het
Mep1b	T	C	18: 21,095,107 (GRCm38)		probably benign	Het
Mex3a	G	T	3: 88,536,255 (GRCm38)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm38)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,227,137 (GRCm38)		probably benign	Het
Notch2	A	G	3: 98,146,117 (GRCm38)	D2032G	probably damaging	Het
Olfr1505	A	C	19: 13,919,250 (GRCm38)	I77L	probably damaging	Het
Olfr491	A	G	7: 108,316,995 (GRCm38)	I34V	probably benign	Het
Olfr63	T	C	17: 33,269,497 (GRCm38)	S258P	probably damaging	Het
Pex16	G	A	2: 92,380,457 (GRCm38)	G312D	probably damaging	Het
Pex5	A	T	6: 124,398,489 (GRCm38)	W525R	probably damaging	Het
Plcb4	T	A	2: 135,976,211 (GRCm38)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,127,943 (GRCm38)	L372F	probably damaging	Het
Polg2	C	A	11: 106,777,526 (GRCm38)	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,671 (GRCm38)	G594A	probably damaging	Het
Prss1	A	G	6: 41,463,588 (GRCm38)	D199G	probably damaging	Het
Rbms2	T	A	10: 128,137,954 (GRCm38)	Q207L	probably benign	Het
Retreg2	A	G	1: 75,146,430 (GRCm38)	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,418,068 (GRCm38)	C622G	probably benign	Het
Spdya	T	A	17: 71,558,640 (GRCm38)	D84E	probably damaging	Het
Stat3	A	T	11: 100,895,156 (GRCm38)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,898,200 (GRCm38)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,652 (GRCm38)		probably benign	Het
Tnrc6c	A	C	11: 117,752,985 (GRCm38)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,883,525 (GRCm38)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 156,059,548 (GRCm38)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,343,444 (GRCm38)	H303L	probably benign	Het
Traf3	T	A	12: 111,261,576 (GRCm38)	V407D	probably damaging	Het
Trim33	T	A	3: 103,352,101 (GRCm38)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,853,719 (GRCm38)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,355,457 (GRCm38)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,755,089 (GRCm38)		probably benign	Het
Zdbf2	A	T	1: 63,308,074 (GRCm38)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,472,555 (GRCm38)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm38)		probably benign	Het
Zfp81	G	A	17: 33,335,121 (GRCm38)	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,765,168 (GRCm38)	D266G	possibly damaging	Het

Other mutations in C4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:C4b	APN	17	34,734,428 (GRCm38)	missense	probably damaging	1.00
IGL00433:C4b	APN	17	34,742,041 (GRCm38)	missense	possibly damaging	0.75
IGL00471:C4b	APN	17	34,734,429 (GRCm38)	missense	probably damaging	1.00
IGL00515:C4b	APN	17	34,728,891 (GRCm38)	missense	probably damaging	1.00
IGL01599:C4b	APN	17	34,743,019 (GRCm38)	splice site	probably benign
IGL01761:C4b	APN	17	34,739,938 (GRCm38)	missense	possibly damaging	0.56
IGL02004:C4b	APN	17	34,739,010 (GRCm38)	unclassified	probably benign
IGL02215:C4b	APN	17	34,734,491 (GRCm38)	missense	probably damaging	1.00
IGL02517:C4b	APN	17	34,734,408 (GRCm38)	missense	probably benign	0.01
IGL02926:C4b	APN	17	34,730,712 (GRCm38)	missense	possibly damaging	0.95
IGL03031:C4b	APN	17	34,731,130 (GRCm38)	missense	possibly damaging	0.47
IGL03057:C4b	APN	17	34,737,764 (GRCm38)	unclassified	probably benign
IGL03165:C4b	APN	17	34,739,955 (GRCm38)	missense	probably benign	0.13
IGL03380:C4b	APN	17	34,740,286 (GRCm38)	missense	probably benign	0.01
Aspiration	UTSW	17	34,734,442 (GRCm38)	missense	probably benign	0.00
Inspiration	UTSW	17	34,732,166 (GRCm38)	splice site	probably null
Peroration	UTSW	17	34,729,399 (GRCm38)	critical splice donor site	probably null
perspiration	UTSW	17	34,729,831 (GRCm38)	missense	probably damaging	1.00
FR4548:C4b	UTSW	17	34,740,997 (GRCm38)	missense	probably benign	0.00
PIT4142001:C4b	UTSW	17	34,733,701 (GRCm38)	missense	probably benign	0.01
R0064:C4b	UTSW	17	34,738,856 (GRCm38)	missense	probably damaging	1.00
R0113:C4b	UTSW	17	34,741,240 (GRCm38)	missense	probably damaging	0.98
R0254:C4b	UTSW	17	34,734,776 (GRCm38)	missense	probably benign	0.00
R0320:C4b	UTSW	17	34,733,161 (GRCm38)	missense	probably benign	0.01
R0391:C4b	UTSW	17	34,735,614 (GRCm38)	splice site	probably benign
R0399:C4b	UTSW	17	34,728,869 (GRCm38)	missense	probably damaging	1.00
R0467:C4b	UTSW	17	34,736,127 (GRCm38)	missense	probably benign	0.01
R0549:C4b	UTSW	17	34,735,415 (GRCm38)	missense	probably damaging	1.00
R0561:C4b	UTSW	17	34,734,417 (GRCm38)	missense	probably damaging	0.99
R0662:C4b	UTSW	17	34,730,888 (GRCm38)	missense	probably damaging	1.00
R0941:C4b	UTSW	17	34,740,055 (GRCm38)	missense	probably benign
R1161:C4b	UTSW	17	34,729,593 (GRCm38)	missense	probably damaging	1.00
R1169:C4b	UTSW	17	34,742,972 (GRCm38)	missense	probably benign	0.14
R1186:C4b	UTSW	17	34,736,309 (GRCm38)	missense	possibly damaging	0.47
R1310:C4b	UTSW	17	34,729,593 (GRCm38)	missense	probably damaging	1.00
R1398:C4b	UTSW	17	34,730,719 (GRCm38)	unclassified	probably benign
R1472:C4b	UTSW	17	34,743,769 (GRCm38)	nonsense	probably null
R1496:C4b	UTSW	17	34,740,021 (GRCm38)	missense	probably benign	0.30
R1544:C4b	UTSW	17	34,738,967 (GRCm38)	missense	probably benign	0.13
R1588:C4b	UTSW	17	34,741,025 (GRCm38)	missense	probably benign
R1645:C4b	UTSW	17	34,740,597 (GRCm38)	missense	probably damaging	1.00
R1664:C4b	UTSW	17	34,732,978 (GRCm38)	missense	probably damaging	1.00
R1678:C4b	UTSW	17	34,743,650 (GRCm38)	missense	probably benign	0.05
R1710:C4b	UTSW	17	34,743,664 (GRCm38)	splice site	probably benign
R1713:C4b	UTSW	17	34,729,271 (GRCm38)	splice site	probably benign
R1770:C4b	UTSW	17	34,736,927 (GRCm38)	missense	possibly damaging	0.78
R1859:C4b	UTSW	17	34,735,553 (GRCm38)	missense	probably benign
R1924:C4b	UTSW	17	34,729,657 (GRCm38)	missense	probably damaging	1.00
R2057:C4b	UTSW	17	34,728,620 (GRCm38)	missense	probably damaging	1.00
R2060:C4b	UTSW	17	34,736,101 (GRCm38)	missense	probably damaging	1.00
R2184:C4b	UTSW	17	34,737,702 (GRCm38)	missense	probably benign	0.27
R2306:C4b	UTSW	17	34,728,518 (GRCm38)	missense	probably benign	0.00
R2363:C4b	UTSW	17	34,736,058 (GRCm38)	splice site	probably benign
R2365:C4b	UTSW	17	34,736,058 (GRCm38)	splice site	probably benign
R2379:C4b	UTSW	17	34,735,743 (GRCm38)	missense	possibly damaging	0.81
R2860:C4b	UTSW	17	34,734,758 (GRCm38)	missense	probably damaging	0.99
R2861:C4b	UTSW	17	34,734,758 (GRCm38)	missense	probably damaging	0.99
R3551:C4b	UTSW	17	34,741,872 (GRCm38)	missense	possibly damaging	0.75
R3765:C4b	UTSW	17	34,729,840 (GRCm38)	missense	probably damaging	0.98
R4157:C4b	UTSW	17	34,742,855 (GRCm38)	missense	probably damaging	1.00
R4299:C4b	UTSW	17	34,731,144 (GRCm38)	missense	possibly damaging	0.52
R4365:C4b	UTSW	17	34,734,743 (GRCm38)	missense	possibly damaging	0.65
R4411:C4b	UTSW	17	34,728,864 (GRCm38)	missense	probably damaging	1.00
R4613:C4b	UTSW	17	34,734,551 (GRCm38)	missense	probably benign	0.12
R4784:C4b	UTSW	17	34,733,406 (GRCm38)	missense	probably benign	0.00
R4790:C4b	UTSW	17	34,734,143 (GRCm38)	missense	probably benign	0.01
R4831:C4b	UTSW	17	34,736,890 (GRCm38)	splice site	probably null
R4879:C4b	UTSW	17	34,743,647 (GRCm38)	missense	probably damaging	0.99
R5036:C4b	UTSW	17	34,740,445 (GRCm38)	critical splice acceptor site	probably null
R5361:C4b	UTSW	17	34,741,238 (GRCm38)	missense	probably benign	0.15
R5384:C4b	UTSW	17	34,737,661 (GRCm38)	missense	possibly damaging	0.89
R5518:C4b	UTSW	17	34,734,442 (GRCm38)	missense	probably benign	0.00
R5590:C4b	UTSW	17	34,740,335 (GRCm38)	missense	probably damaging	0.98
R5643:C4b	UTSW	17	34,742,417 (GRCm38)	missense	probably benign	0.01
R5644:C4b	UTSW	17	34,742,417 (GRCm38)	missense	probably benign	0.01
R5833:C4b	UTSW	17	34,730,673 (GRCm38)	missense	probably damaging	1.00
R5931:C4b	UTSW	17	34,729,193 (GRCm38)	missense	probably damaging	0.99
R6178:C4b	UTSW	17	34,733,406 (GRCm38)	missense	probably benign	0.00
R6209:C4b	UTSW	17	34,741,087 (GRCm38)	missense	possibly damaging	0.93
R6225:C4b	UTSW	17	34,738,874 (GRCm38)	missense	possibly damaging	0.64
R6518:C4b	UTSW	17	34,734,205 (GRCm38)	missense	probably damaging	0.98
R6613:C4b	UTSW	17	34,733,565 (GRCm38)	missense	probably damaging	0.99
R6781:C4b	UTSW	17	34,742,954 (GRCm38)	missense	probably damaging	0.99
R6807:C4b	UTSW	17	34,730,956 (GRCm38)	missense	probably benign	0.17
R6858:C4b	UTSW	17	34,729,831 (GRCm38)	missense	probably damaging	1.00
R6962:C4b	UTSW	17	34,732,166 (GRCm38)	splice site	probably null
R7068:C4b	UTSW	17	34,733,477 (GRCm38)	missense	probably damaging	1.00
R7081:C4b	UTSW	17	34,735,443 (GRCm38)	missense	probably benign	0.27
R7105:C4b	UTSW	17	34,730,911 (GRCm38)	missense	possibly damaging	0.52
R7211:C4b	UTSW	17	34,735,534 (GRCm38)	missense	possibly damaging	0.92
R7296:C4b	UTSW	17	34,743,659 (GRCm38)	missense	probably damaging	1.00
R7314:C4b	UTSW	17	34,740,356 (GRCm38)	missense	probably benign
R7330:C4b	UTSW	17	34,730,472 (GRCm38)	missense	probably damaging	1.00
R7397:C4b	UTSW	17	34,742,390 (GRCm38)	missense	possibly damaging	0.80
R7437:C4b	UTSW	17	34,734,733 (GRCm38)	missense	probably benign	0.10
R7490:C4b	UTSW	17	34,731,080 (GRCm38)	nonsense	probably null
R7597:C4b	UTSW	17	34,739,675 (GRCm38)	missense	probably benign
R7633:C4b	UTSW	17	34,729,399 (GRCm38)	critical splice donor site	probably null
R7900:C4b	UTSW	17	34,739,777 (GRCm38)	missense	probably benign	0.03
R7910:C4b	UTSW	17	34,740,352 (GRCm38)	missense	probably benign	0.00
R7923:C4b	UTSW	17	34,742,380 (GRCm38)	missense	probably damaging	1.00
R7960:C4b	UTSW	17	34,741,278 (GRCm38)	splice site	probably null
R8420:C4b	UTSW	17	34,734,539 (GRCm38)	missense	probably damaging	0.97
R8467:C4b	UTSW	17	34,732,813 (GRCm38)	missense	possibly damaging	0.51
R8558:C4b	UTSW	17	34,736,567 (GRCm38)	missense	probably damaging	1.00
R8725:C4b	UTSW	17	34,734,485 (GRCm38)	missense	probably damaging	1.00
R8727:C4b	UTSW	17	34,734,485 (GRCm38)	missense	probably damaging	1.00
R8853:C4b	UTSW	17	34,729,905 (GRCm38)	missense	possibly damaging	0.91
R8934:C4b	UTSW	17	34,732,984 (GRCm38)	missense	possibly damaging	0.78
R8944:C4b	UTSW	17	34,742,939 (GRCm38)	missense	probably benign	0.00
R8960:C4b	UTSW	17	34,733,918 (GRCm38)	missense	probably damaging	1.00
R8982:C4b	UTSW	17	34,734,364 (GRCm38)	critical splice donor site	probably null
R9104:C4b	UTSW	17	34,729,259 (GRCm38)	missense	probably benign	0.39
R9114:C4b	UTSW	17	34,729,430 (GRCm38)	missense	probably damaging	0.99
R9348:C4b	UTSW	17	34,733,185 (GRCm38)	missense	probably benign	0.01
R9428:C4b	UTSW	17	34,730,911 (GRCm38)	missense	possibly damaging	0.52
R9533:C4b	UTSW	17	34,737,724 (GRCm38)	nonsense	probably null
R9591:C4b	UTSW	17	34,738,955 (GRCm38)	missense	probably benign	0.00
R9678:C4b	UTSW	17	34,741,789 (GRCm38)	critical splice donor site	probably null
Z1176:C4b	UTSW	17	34,731,147 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGGCCAAACTCAGAATCTTCAGCAC -3'
(R):5'- TGGAGCAAACTGTCCCCTGAAAC -3'

Sequencing Primer
(F):5'- TCTTCAGCACGAAGGCAGTC -3'
(R):5'- CTGAAACAAAGGACCATGCTGTG -3'

Posted On

2013-04-16