Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:C4b'

160270

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 34730719 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	T	1: 26,685,341 (GRCm38)	Q253K	possibly damaging	Het
9330182L06Rik	A	G	5: 9,380,297 (GRCm38)	Y69C	probably damaging	Het
Abca17	T	C	17: 24,328,537 (GRCm38)	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,256,736 (GRCm38)		probably null	Het
Anks1b	A	G	10: 90,050,029 (GRCm38)	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926 (GRCm38)	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,295,296 (GRCm38)		probably benign	Het
Cacna2d1	G	A	5: 16,357,766 (GRCm38)	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822 (GRCm38)	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,781,971 (GRCm38)		probably benign	Het
Cep63	A	T	9: 102,603,086 (GRCm38)		probably benign	Het
Chil4	T	A	3: 106,219,509 (GRCm38)		probably null	Het
Cnot11	A	G	1: 39,545,180 (GRCm38)	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,638,625 (GRCm38)	S254P	probably damaging	Het
Dnah11	T	A	12: 118,057,106 (GRCm38)	K87*	probably null	Het
Dpy19l2	T	A	9: 24,581,263 (GRCm38)		probably benign	Het
Dsc1	A	T	18: 20,088,336 (GRCm38)	I694N	probably damaging	Het
Ehd4	A	T	2: 120,127,600 (GRCm38)	I168K	probably benign	Het
Eif4e	A	T	3: 138,546,375 (GRCm38)	N25Y	probably damaging	Het
Eme2	G	A	17: 24,892,918 (GRCm38)	S263F	probably damaging	Het
Fam160b1	T	A	19: 57,372,926 (GRCm38)		probably benign	Het
Fgfrl1	T	A	5: 108,706,281 (GRCm38)		probably benign	Het
Gm3159	T	A	14: 4,398,586 (GRCm38)	Y92*	probably null	Het
Gm4922	T	A	10: 18,783,748 (GRCm38)	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,714,262 (GRCm38)		probably benign	Het
Grsf1	A	G	5: 88,665,847 (GRCm38)	Y231H	probably benign	Het
Heatr4	T	A	12: 83,967,621 (GRCm38)	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Isg20l2	C	A	3: 87,938,754 (GRCm38)	L325I	probably benign	Het
Kalrn	A	G	16: 34,212,820 (GRCm38)	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,436,226 (GRCm38)	W318L	probably damaging	Het
Kctd1	T	C	18: 15,062,597 (GRCm38)	E323G	possibly damaging	Het
Kif4	G	T	X: 100,689,097 (GRCm38)	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,627,732 (GRCm38)	T151A	unknown	Het
Ldlr	A	T	9: 21,739,542 (GRCm38)	Q449L	probably benign	Het
Lepr	T	A	4: 101,792,019 (GRCm38)	D872E	probably damaging	Het
Lgals12	C	T	19: 7,603,957 (GRCm38)		probably benign	Het
Lrig3	C	T	10: 126,003,088 (GRCm38)	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,462,452 (GRCm38)	I583L	probably benign	Het
Lyst	T	C	13: 13,740,536 (GRCm38)	S3272P	possibly damaging	Het
March2	T	C	17: 33,696,122 (GRCm38)	H166R	probably damaging	Het
Mtbp	C	A	15: 55,577,537 (GRCm38)	Y373*	probably null	Het
Myh2	C	T	11: 67,185,287 (GRCm38)	H767Y	probably benign	Het
Ncam1	G	A	9: 49,517,589 (GRCm38)		probably benign	Het
Neb	T	A	2: 52,289,646 (GRCm38)	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,448,756 (GRCm38)	Y428H	possibly damaging	Het
Nrros	A	T	16: 32,143,144 (GRCm38)	I649N	probably damaging	Het
Nvl	A	T	1: 181,097,126 (GRCm38)		probably benign	Het
Olfr495	T	A	7: 108,395,501 (GRCm38)	V127E	probably damaging	Het
Pms1	A	T	1: 53,207,276 (GRCm38)	V368E	possibly damaging	Het
Polq	T	A	16: 37,062,495 (GRCm38)	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,542,879 (GRCm38)	V31A	probably damaging	Het
Rev3l	T	A	10: 39,821,583 (GRCm38)	V692E	probably benign	Het
Robo4	T	C	9: 37,408,076 (GRCm38)		probably null	Het
Rps6kc1	T	C	1: 190,800,015 (GRCm38)	I597V	probably damaging	Het
Rtel1	T	A	2: 181,335,865 (GRCm38)		probably null	Het
Scn9a	A	G	2: 66,484,586 (GRCm38)	M1587T	probably benign	Het
Sec31b	T	A	19: 44,523,665 (GRCm38)	I597F	probably benign	Het
Skint5	T	C	4: 113,779,071 (GRCm38)	N650S	unknown	Het
Slc22a28	G	T	19: 8,130,202 (GRCm38)	S167*	probably null	Het
Slfn1	T	A	11: 83,121,142 (GRCm38)	M28K	probably damaging	Het
Smc6	T	C	12: 11,271,879 (GRCm38)		probably benign	Het
Sox8	T	C	17: 25,567,883 (GRCm38)	H282R	probably benign	Het
Syngr3	C	A	17: 24,686,440 (GRCm38)	V161L	probably benign	Het
Trak1	C	T	9: 121,454,359 (GRCm38)	S397F	probably damaging	Het
Uso1	C	T	5: 92,181,468 (GRCm38)	A405V	probably benign	Het
Uvrag	G	T	7: 99,065,820 (GRCm38)	Y190*	probably null	Het
Vps13d	A	T	4: 145,099,983 (GRCm38)	L1726Q	probably null	Het
Vwf	A	T	6: 125,603,457 (GRCm38)	Q556L	probably benign	Het
Wdr70	T	A	15: 8,035,844 (GRCm38)	M246L	probably benign	Het
Yipf3	T	C	17: 46,251,446 (GRCm38)	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,826,873 (GRCm38)	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,627,297 (GRCm38)	F125L	probably benign	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
R0143:C4b	UTSW	17	34,734,219 (GRCm38)	unclassified	probably benign
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
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'- TCAAAGTGACTCACGTAACGGTCAG -3'
(R):5'- ACTACTATGACATGCCAGCCGCAG -3'

Sequencing Primer
(F):5'- CAGGGACCCTGGTCATTGTG -3'
(R):5'- ATGCCAGCCGCAGATGAC -3'

Posted On

2014-03-14