Mutagenetix > Incidental Mutation

Incidental Mutation 'R1588:C4b'

177675

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement C4B (Chido blood group)

Synonyms

Ss, C4

MMRRC Submission

039625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1588 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

34947354-34962856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34959999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 326 (I326V)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably benign
Transcript: ENSMUST00000069507
AA Change: I326V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: I326V

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: ENSMUST00000174597

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,771,484 (GRCm39)	V869A	probably benign	Het
Ablim1	C	T	19: 57,071,979 (GRCm39)	M1I	probably null	Het
Adamts13	A	T	2: 26,865,687 (GRCm39)	I81F	probably benign	Het
Akap11	A	T	14: 78,747,685 (GRCm39)	N1567K	possibly damaging	Het
Arrdc4	G	A	7: 68,391,484 (GRCm39)	T261M	possibly damaging	Het
Casp8ap2	G	A	4: 32,640,541 (GRCm39)	A532T	probably benign	Het
Ccdc134	A	G	15: 82,019,337 (GRCm39)	T187A	probably benign	Het
Cdh8	T	C	8: 99,917,039 (GRCm39)	N359D	probably damaging	Het
Cep97	A	G	16: 55,748,184 (GRCm39)	L82P	probably damaging	Het
Cfap53	A	T	18: 74,440,444 (GRCm39)	R404S	probably benign	Het
Chrng	C	A	1: 87,135,229 (GRCm39)	F179L	probably damaging	Het
Ddi1	A	T	9: 6,265,391 (GRCm39)	I326K	probably damaging	Het
Decr2	T	C	17: 26,302,002 (GRCm39)	T243A	possibly damaging	Het
Dip2c	T	C	13: 9,715,900 (GRCm39)	V1502A	probably damaging	Het
Edem1	T	C	6: 108,818,640 (GRCm39)	V216A	probably damaging	Het
Fat2	A	C	11: 55,174,230 (GRCm39)	V2161G	probably damaging	Het
Fbn1	T	C	2: 125,161,034 (GRCm39)	T2169A	probably benign	Het
Fmn1	T	C	2: 113,196,043 (GRCm39)	V581A	unknown	Het
Hip1r	A	T	5: 124,134,638 (GRCm39)	D350V	probably damaging	Het
Ift140	G	A	17: 25,306,959 (GRCm39)	R898H	probably damaging	Het
Il12a	A	G	3: 68,602,896 (GRCm39)	I159V	probably benign	Het
Itprid1	A	G	6: 55,955,488 (GRCm39)	E1032G	possibly damaging	Het
Kl	A	G	5: 150,906,097 (GRCm39)	E489G	probably benign	Het
Klhl3	T	C	13: 58,161,712 (GRCm39)	E461G	probably damaging	Het
Masp1	T	C	16: 23,313,404 (GRCm39)	Y177C	probably damaging	Het
Nop58	T	A	1: 59,742,031 (GRCm39)	Y187N	probably damaging	Het
Npc1l1	A	G	11: 6,167,785 (GRCm39)	V1002A	probably benign	Het
Ntaq1	T	A	15: 58,021,285 (GRCm39)		probably null	Het
Ntrk1	A	T	3: 87,687,384 (GRCm39)	Y683*	probably null	Het
Or11g26	A	G	14: 50,753,584 (GRCm39)	I308V	probably benign	Het
Or13j1	C	T	4: 43,705,923 (GRCm39)	C215Y	probably damaging	Het
Or2w4	C	T	13: 21,796,083 (GRCm39)	D19N	probably benign	Het
Or8k21	T	C	2: 86,144,874 (GRCm39)	Y252C	probably damaging	Het
Osbpl6	T	C	2: 76,409,560 (GRCm39)	V367A	probably benign	Het
Phip	A	G	9: 82,782,881 (GRCm39)	W855R	probably damaging	Het
Phlpp1	A	G	1: 106,308,115 (GRCm39)	S1131G	probably damaging	Het
Pkdrej	A	T	15: 85,701,442 (GRCm39)	V1498E	probably benign	Het
Pramel22	G	T	4: 143,382,121 (GRCm39)	L192M	probably damaging	Het
Prkaa2	T	C	4: 104,908,420 (GRCm39)	N152D	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,052,558 (GRCm39)	V732M	probably damaging	Het
Rccd1	C	T	7: 79,969,859 (GRCm39)	W223*	probably null	Het
Riox2	T	A	16: 59,295,946 (GRCm39)	S16T	possibly damaging	Het
Scn5a	C	T	9: 119,350,367 (GRCm39)	V836I	probably damaging	Het
Serpinf1	G	A	11: 75,301,076 (GRCm39)	R380C	probably damaging	Het
Sf3b1	A	T	1: 55,036,336 (GRCm39)	N912K	probably benign	Het
Shprh	T	A	10: 11,040,488 (GRCm39)	C134S	probably damaging	Het
Skint8	T	A	4: 111,785,924 (GRCm39)	C123*	probably null	Het
Slc16a13	G	T	11: 70,109,421 (GRCm39)	S360*	probably null	Het
Srr	A	G	11: 74,799,629 (GRCm39)	I282T	possibly damaging	Het
Trpm1	T	C	7: 63,873,565 (GRCm39)	F607L	possibly damaging	Het
Ttn	T	C	2: 76,539,870 (GRCm39)	D34372G	probably benign	Het
Tub	C	T	7: 108,628,888 (GRCm39)	T401I	probably damaging	Het
Wdhd1	T	C	14: 47,493,693 (GRCm39)	E9G	probably damaging	Het
Yipf3	T	A	17: 46,561,787 (GRCm39)	F198Y	possibly damaging	Het
Zfp955a	C	T	17: 33,460,791 (GRCm39)	R447K	probably benign	Het

Other mutations in C4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:C4b	APN	17	34,953,402 (GRCm39)	missense	probably damaging	1.00
IGL00433:C4b	APN	17	34,961,015 (GRCm39)	missense	possibly damaging	0.75
IGL00471:C4b	APN	17	34,953,403 (GRCm39)	missense	probably damaging	1.00
IGL00515:C4b	APN	17	34,947,865 (GRCm39)	missense	probably damaging	1.00
IGL01599:C4b	APN	17	34,961,993 (GRCm39)	splice site	probably benign
IGL01761:C4b	APN	17	34,958,912 (GRCm39)	missense	possibly damaging	0.56
IGL02004:C4b	APN	17	34,957,984 (GRCm39)	unclassified	probably benign
IGL02215:C4b	APN	17	34,953,465 (GRCm39)	missense	probably damaging	1.00
IGL02517:C4b	APN	17	34,953,382 (GRCm39)	missense	probably benign	0.01
IGL02926:C4b	APN	17	34,949,686 (GRCm39)	missense	possibly damaging	0.95
IGL03031:C4b	APN	17	34,950,104 (GRCm39)	missense	possibly damaging	0.47
IGL03057:C4b	APN	17	34,956,738 (GRCm39)	unclassified	probably benign
IGL03165:C4b	APN	17	34,958,929 (GRCm39)	missense	probably benign	0.13
IGL03380:C4b	APN	17	34,959,260 (GRCm39)	missense	probably benign	0.01
Aspiration	UTSW	17	34,953,416 (GRCm39)	missense	probably benign	0.00
Inspiration	UTSW	17	34,951,140 (GRCm39)	splice site	probably null
Peroration	UTSW	17	34,948,373 (GRCm39)	critical splice donor site	probably null
perspiration	UTSW	17	34,948,805 (GRCm39)	missense	probably damaging	1.00
FR4548:C4b	UTSW	17	34,959,971 (GRCm39)	missense	probably benign	0.00
PIT4142001:C4b	UTSW	17	34,952,675 (GRCm39)	missense	probably benign	0.01
R0064:C4b	UTSW	17	34,957,830 (GRCm39)	missense	probably damaging	1.00
R0113:C4b	UTSW	17	34,960,214 (GRCm39)	missense	probably damaging	0.98
R0143:C4b	UTSW	17	34,953,193 (GRCm39)	unclassified	probably benign
R0254:C4b	UTSW	17	34,953,750 (GRCm39)	missense	probably benign	0.00
R0320:C4b	UTSW	17	34,952,135 (GRCm39)	missense	probably benign	0.01
R0391:C4b	UTSW	17	34,954,588 (GRCm39)	splice site	probably benign
R0399:C4b	UTSW	17	34,947,843 (GRCm39)	missense	probably damaging	1.00
R0467:C4b	UTSW	17	34,955,101 (GRCm39)	missense	probably benign	0.01
R0549:C4b	UTSW	17	34,954,389 (GRCm39)	missense	probably damaging	1.00
R0561:C4b	UTSW	17	34,953,391 (GRCm39)	missense	probably damaging	0.99
R0662:C4b	UTSW	17	34,949,862 (GRCm39)	missense	probably damaging	1.00
R0941:C4b	UTSW	17	34,959,029 (GRCm39)	missense	probably benign
R1161:C4b	UTSW	17	34,948,567 (GRCm39)	missense	probably damaging	1.00
R1169:C4b	UTSW	17	34,961,946 (GRCm39)	missense	probably benign	0.14
R1186:C4b	UTSW	17	34,955,283 (GRCm39)	missense	possibly damaging	0.47
R1310:C4b	UTSW	17	34,948,567 (GRCm39)	missense	probably damaging	1.00
R1398:C4b	UTSW	17	34,949,693 (GRCm39)	unclassified	probably benign
R1472:C4b	UTSW	17	34,962,743 (GRCm39)	nonsense	probably null
R1496:C4b	UTSW	17	34,958,995 (GRCm39)	missense	probably benign	0.30
R1544:C4b	UTSW	17	34,957,941 (GRCm39)	missense	probably benign	0.13
R1645:C4b	UTSW	17	34,959,571 (GRCm39)	missense	probably damaging	1.00
R1664:C4b	UTSW	17	34,951,952 (GRCm39)	missense	probably damaging	1.00
R1678:C4b	UTSW	17	34,962,624 (GRCm39)	missense	probably benign	0.05
R1710:C4b	UTSW	17	34,962,638 (GRCm39)	splice site	probably benign
R1713:C4b	UTSW	17	34,948,245 (GRCm39)	splice site	probably benign
R1770:C4b	UTSW	17	34,955,901 (GRCm39)	missense	possibly damaging	0.78
R1859:C4b	UTSW	17	34,954,527 (GRCm39)	missense	probably benign
R1924:C4b	UTSW	17	34,948,631 (GRCm39)	missense	probably damaging	1.00
R2057:C4b	UTSW	17	34,947,594 (GRCm39)	missense	probably damaging	1.00
R2060:C4b	UTSW	17	34,955,075 (GRCm39)	missense	probably damaging	1.00
R2184:C4b	UTSW	17	34,956,676 (GRCm39)	missense	probably benign	0.27
R2306:C4b	UTSW	17	34,947,492 (GRCm39)	missense	probably benign	0.00
R2363:C4b	UTSW	17	34,955,032 (GRCm39)	splice site	probably benign
R2365:C4b	UTSW	17	34,955,032 (GRCm39)	splice site	probably benign
R2379:C4b	UTSW	17	34,954,717 (GRCm39)	missense	possibly damaging	0.81
R2860:C4b	UTSW	17	34,953,732 (GRCm39)	missense	probably damaging	0.99
R2861:C4b	UTSW	17	34,953,732 (GRCm39)	missense	probably damaging	0.99
R3551:C4b	UTSW	17	34,960,846 (GRCm39)	missense	possibly damaging	0.75
R3765:C4b	UTSW	17	34,948,814 (GRCm39)	missense	probably damaging	0.98
R4157:C4b	UTSW	17	34,961,829 (GRCm39)	missense	probably damaging	1.00
R4299:C4b	UTSW	17	34,950,118 (GRCm39)	missense	possibly damaging	0.52
R4365:C4b	UTSW	17	34,953,717 (GRCm39)	missense	possibly damaging	0.65
R4411:C4b	UTSW	17	34,947,838 (GRCm39)	missense	probably damaging	1.00
R4613:C4b	UTSW	17	34,953,525 (GRCm39)	missense	probably benign	0.12
R4784:C4b	UTSW	17	34,952,380 (GRCm39)	missense	probably benign	0.00
R4790:C4b	UTSW	17	34,953,117 (GRCm39)	missense	probably benign	0.01
R4831:C4b	UTSW	17	34,955,864 (GRCm39)	splice site	probably null
R4879:C4b	UTSW	17	34,962,621 (GRCm39)	missense	probably damaging	0.99
R5036:C4b	UTSW	17	34,959,419 (GRCm39)	critical splice acceptor site	probably null
R5361:C4b	UTSW	17	34,960,212 (GRCm39)	missense	probably benign	0.15
R5384:C4b	UTSW	17	34,956,635 (GRCm39)	missense	possibly damaging	0.89
R5518:C4b	UTSW	17	34,953,416 (GRCm39)	missense	probably benign	0.00
R5590:C4b	UTSW	17	34,959,309 (GRCm39)	missense	probably damaging	0.98
R5643:C4b	UTSW	17	34,961,391 (GRCm39)	missense	probably benign	0.01
R5644:C4b	UTSW	17	34,961,391 (GRCm39)	missense	probably benign	0.01
R5833:C4b	UTSW	17	34,949,647 (GRCm39)	missense	probably damaging	1.00
R5931:C4b	UTSW	17	34,948,167 (GRCm39)	missense	probably damaging	0.99
R6178:C4b	UTSW	17	34,952,380 (GRCm39)	missense	probably benign	0.00
R6209:C4b	UTSW	17	34,960,061 (GRCm39)	missense	possibly damaging	0.93
R6225:C4b	UTSW	17	34,957,848 (GRCm39)	missense	possibly damaging	0.64
R6518:C4b	UTSW	17	34,953,179 (GRCm39)	missense	probably damaging	0.98
R6613:C4b	UTSW	17	34,952,539 (GRCm39)	missense	probably damaging	0.99
R6781:C4b	UTSW	17	34,961,928 (GRCm39)	missense	probably damaging	0.99
R6807:C4b	UTSW	17	34,949,930 (GRCm39)	missense	probably benign	0.17
R6858:C4b	UTSW	17	34,948,805 (GRCm39)	missense	probably damaging	1.00
R6962:C4b	UTSW	17	34,951,140 (GRCm39)	splice site	probably null
R7068:C4b	UTSW	17	34,952,451 (GRCm39)	missense	probably damaging	1.00
R7081:C4b	UTSW	17	34,954,417 (GRCm39)	missense	probably benign	0.27
R7105:C4b	UTSW	17	34,949,885 (GRCm39)	missense	possibly damaging	0.52
R7211:C4b	UTSW	17	34,954,508 (GRCm39)	missense	possibly damaging	0.92
R7296:C4b	UTSW	17	34,962,633 (GRCm39)	missense	probably damaging	1.00
R7314:C4b	UTSW	17	34,959,330 (GRCm39)	missense	probably benign
R7330:C4b	UTSW	17	34,949,446 (GRCm39)	missense	probably damaging	1.00
R7397:C4b	UTSW	17	34,961,364 (GRCm39)	missense	possibly damaging	0.80
R7437:C4b	UTSW	17	34,953,707 (GRCm39)	missense	probably benign	0.10
R7490:C4b	UTSW	17	34,950,054 (GRCm39)	nonsense	probably null
R7597:C4b	UTSW	17	34,958,649 (GRCm39)	missense	probably benign
R7633:C4b	UTSW	17	34,948,373 (GRCm39)	critical splice donor site	probably null
R7900:C4b	UTSW	17	34,958,751 (GRCm39)	missense	probably benign	0.03
R7910:C4b	UTSW	17	34,959,326 (GRCm39)	missense	probably benign	0.00
R7923:C4b	UTSW	17	34,961,354 (GRCm39)	missense	probably damaging	1.00
R7960:C4b	UTSW	17	34,960,252 (GRCm39)	splice site	probably null
R8420:C4b	UTSW	17	34,953,513 (GRCm39)	missense	probably damaging	0.97
R8467:C4b	UTSW	17	34,951,787 (GRCm39)	missense	possibly damaging	0.51
R8558:C4b	UTSW	17	34,955,541 (GRCm39)	missense	probably damaging	1.00
R8725:C4b	UTSW	17	34,953,459 (GRCm39)	missense	probably damaging	1.00
R8727:C4b	UTSW	17	34,953,459 (GRCm39)	missense	probably damaging	1.00
R8853:C4b	UTSW	17	34,948,879 (GRCm39)	missense	possibly damaging	0.91
R8934:C4b	UTSW	17	34,951,958 (GRCm39)	missense	possibly damaging	0.78
R8944:C4b	UTSW	17	34,961,913 (GRCm39)	missense	probably benign	0.00
R8960:C4b	UTSW	17	34,952,892 (GRCm39)	missense	probably damaging	1.00
R8982:C4b	UTSW	17	34,953,338 (GRCm39)	critical splice donor site	probably null
R9104:C4b	UTSW	17	34,948,233 (GRCm39)	missense	probably benign	0.39
R9114:C4b	UTSW	17	34,948,404 (GRCm39)	missense	probably damaging	0.99
R9348:C4b	UTSW	17	34,952,159 (GRCm39)	missense	probably benign	0.01
R9428:C4b	UTSW	17	34,949,885 (GRCm39)	missense	possibly damaging	0.52
R9533:C4b	UTSW	17	34,956,698 (GRCm39)	nonsense	probably null
R9591:C4b	UTSW	17	34,957,929 (GRCm39)	missense	probably benign	0.00
R9678:C4b	UTSW	17	34,960,763 (GRCm39)	critical splice donor site	probably null
Z1176:C4b	UTSW	17	34,950,121 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CGGCCTATCAGATGGTGAACCAAG -3'
(R):5'- TACATCTATGGGAAGCCCGTGCAG -3'

Sequencing Primer
(F):5'- GGCATCAGGAGCTGTACTG -3'
(R):5'- TGGCATACACACGGTTTGC -3'

Posted On

2014-04-24