Mutagenetix > Incidental Mutation

Incidental Mutation 'R0113:C4b'

20610

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

MMRRC Submission

038399-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0113 (G1)

Quality Score

114

Status

Validated (trace)

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34741240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 279 (Y279F)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably damaging
Transcript: ENSMUST00000069507
AA Change: Y279F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: Y279F

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

noncoding transcript
Transcript: ENSMUST00000174597

Meta Mutation Damage Score

0.2014

Coding Region Coverage

1x: 99.2%
3x: 98.1%
10x: 95.2%
20x: 87.5%

Validation Efficiency

99% (70/71)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	A	G	8: 10,926,126 (GRCm38)		noncoding transcript	Het
4930432K21Rik	C	T	8: 84,167,242 (GRCm38)	T311I	probably damaging	Het
Abca13	A	T	11: 9,292,114 (GRCm38)	I1326F	possibly damaging	Het
Arnt2	G	A	7: 84,347,530 (GRCm38)	R63C	probably damaging	Het
Aspscr1	C	G	11: 120,688,925 (GRCm38)	Q97E	probably damaging	Het
Atad2	A	G	15: 58,120,934 (GRCm38)		probably benign	Het
Atcay	A	T	10: 81,214,720 (GRCm38)		probably null	Het
Cav1	A	T	6: 17,308,049 (GRCm38)	S67C	possibly damaging	Het
Celf2	A	C	2: 6,624,714 (GRCm38)	H113Q	probably damaging	Het
Cep170	A	C	1: 176,758,455 (GRCm38)	N590K	probably damaging	Het
Ces1f	A	T	8: 93,279,699 (GRCm38)	M1K	probably null	Het
Chrna1	C	A	2: 73,566,836 (GRCm38)	D370Y	possibly damaging	Het
Csmd1	C	A	8: 15,984,849 (GRCm38)	G2441C	probably damaging	Het
D630003M21Rik	C	T	2: 158,196,575 (GRCm38)	D984N	possibly damaging	Het
Dhrs1	T	C	14: 55,739,939 (GRCm38)	T241A	probably benign	Het
Edar	A	C	10: 58,629,449 (GRCm38)	C31G	probably damaging	Het
Eps8	A	G	6: 137,537,684 (GRCm38)	S24P	possibly damaging	Het
Fam149a	T	C	8: 45,341,024 (GRCm38)	E669G	probably damaging	Het
Fcrla	A	T	1: 170,922,299 (GRCm38)	M1K	probably null	Het
G3bp1	T	A	11: 55,495,426 (GRCm38)	V237E	probably benign	Het
Galnt5	A	G	2: 57,998,877 (GRCm38)	E163G	probably benign	Het
Gm5155	G	A	7: 17,908,948 (GRCm38)		noncoding transcript	Het
Gpr87	T	C	3: 59,179,511 (GRCm38)	D192G	possibly damaging	Het
Ino80	G	A	2: 119,382,960 (GRCm38)	R1249C	probably damaging	Het
Ints1	T	C	5: 139,765,213 (GRCm38)	T810A		Het
Kalrn	A	G	16: 34,049,936 (GRCm38)		probably benign	Het
Kcnk6	T	C	7: 29,232,209 (GRCm38)	D92G	probably damaging	Het
Marf1	C	T	16: 14,142,534 (GRCm38)	A549T	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504 (GRCm38)	T40I	probably benign	Het
Mfsd6	A	T	1: 52,709,189 (GRCm38)	N172K	probably damaging	Het
Mtcl1	G	T	17: 66,354,242 (GRCm38)	Q1225K	possibly damaging	Het
Nav2	C	T	7: 49,535,953 (GRCm38)	T948M	probably damaging	Het
Nfic	T	C	10: 81,420,585 (GRCm38)	K104E	probably damaging	Het
Nupl1	G	A	14: 60,251,291 (GRCm38)		probably benign	Het
Nwd2	A	T	5: 63,807,898 (GRCm38)	K1608N	probably damaging	Het
Olfr148	T	A	9: 39,614,002 (GRCm38)	I145K	probably benign	Het
Olfr50	G	T	2: 36,793,995 (GRCm38)	G253V	probably damaging	Het
Olfr50	G	A	2: 36,793,994 (GRCm38)	G253R	probably damaging	Het
Phf21b	T	C	15: 84,804,767 (GRCm38)	D186G	probably damaging	Het
Poli	C	T	18: 70,528,758 (GRCm38)	C57Y	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799 (GRCm38)		probably benign	Het
Psg23	T	C	7: 18,612,002 (GRCm38)	Y256C	probably benign	Het
Satb1	C	A	17: 51,782,698 (GRCm38)	E374*	probably null	Het
Scn4a	C	T	11: 106,345,436 (GRCm38)	E333K	probably benign	Het
Sec14l2	C	T	11: 4,103,661 (GRCm38)		probably benign	Het
Slain1	T	C	14: 103,685,825 (GRCm38)		probably benign	Het
Snapc1	C	T	12: 73,975,032 (GRCm38)	R81C	probably damaging	Het
Syne2	A	G	12: 76,033,722 (GRCm38)	E4810G	probably damaging	Het
Syne2	T	C	12: 75,930,578 (GRCm38)	S1266P	probably damaging	Het
Tbck	T	C	3: 132,743,080 (GRCm38)	I618T	probably damaging	Het
Tmem132d	A	T	5: 127,784,593 (GRCm38)	N821K	probably benign	Het
Trim28	T	A	7: 13,028,701 (GRCm38)	V381E	probably damaging	Het
Ttc1	T	C	11: 43,745,288 (GRCm38)	S43G	probably benign	Het
Ube2u	A	G	4: 100,481,655 (GRCm38)	E39G	possibly damaging	Het
Urb2	T	C	8: 124,030,926 (GRCm38)	V1124A	probably benign	Het
Usp13	A	G	3: 32,817,876 (GRCm38)		probably benign	Het
Vmn1r216	A	T	13: 23,099,461 (GRCm38)	S105C	probably damaging	Het
Yipf2	T	C	9: 21,590,116 (GRCm38)	T23A	probably damaging	Het
Zfp521	G	A	18: 13,845,091 (GRCm38)	T755M	probably damaging	Het
Zfp619	T	A	7: 39,537,759 (GRCm38)	M1071K	probably benign	Het
Zfp942	A	T	17: 21,929,085 (GRCm38)	C188S	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
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
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'- GCCTGGAACTGGTCCTTTGAGATG -3'
(R):5'- TGCCCAGCAACAGTGATGAAATCC -3'

Sequencing Primer
(F):5'- AACTGGTCCTTTGAGATGGAAATG -3'
(R):5'- ccctcagaacccccacc -3'

Posted On

2013-04-11