Mutagenetix > Incidental Mutation

Incidental Mutation 'R7397:C4b'

573931

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement C4B (Chido blood group)

Synonyms

Ss, C4

MMRRC Submission

045479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7397 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34947354-34962856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34961364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 198 (D198E)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069507
AA Change: D198E

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: D198E

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

Meta Mutation Damage Score

0.3170

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,848 (GRCm39)	H3R	unknown	Het
Adam18	T	A	8: 25,136,321 (GRCm39)	E400V	possibly damaging	Het
Ak5	A	T	3: 152,183,989 (GRCm39)	F473I	probably damaging	Het
Arhgef10l	G	A	4: 140,290,115 (GRCm39)	P486S	probably damaging	Het
Asphd1	T	A	7: 126,548,001 (GRCm39)	R101W	possibly damaging	Het
Bhlha15	G	A	5: 144,128,223 (GRCm39)	E112K	probably damaging	Het
Carmil1	G	T	13: 24,228,294 (GRCm39)	P961T	probably damaging	Het
Catsperb	T	C	12: 101,554,282 (GRCm39)	S659P	possibly damaging	Het
Cdh3	C	T	8: 107,263,241 (GRCm39)	R97*	probably null	Het
Cep192	T	C	18: 67,989,268 (GRCm39)	I1805T	probably damaging	Het
Cep250	T	G	2: 155,823,331 (GRCm39)	L995R	probably damaging	Het
Cfap276	T	A	3: 108,450,864 (GRCm39)	I102N	probably benign	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chd5	A	G	4: 152,452,469 (GRCm39)	K809E	possibly damaging	Het
Csmd3	T	C	15: 47,559,130 (GRCm39)	T1467A		Het
Ctla2a	T	A	13: 61,083,463 (GRCm39)	R60S	probably damaging	Het
Cts6	A	T	13: 61,350,014 (GRCm39)	D22E	possibly damaging	Het
Ctsll3	T	A	13: 60,948,532 (GRCm39)	E109V	probably benign	Het
Dgka	G	A	10: 128,556,594 (GRCm39)	P701S	possibly damaging	Het
Dnhd1	A	T	7: 105,354,504 (GRCm39)	I3089F	possibly damaging	Het
Dock2	T	A	11: 34,609,816 (GRCm39)	D208V	probably benign	Het
Fnbp1l	G	T	3: 122,338,286 (GRCm39)	Q520K	probably benign	Het
Foxc1	A	G	13: 31,991,618 (GRCm39)	D143G	probably damaging	Het
Fsip2	G	A	2: 82,815,601 (GRCm39)	R3778Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,969,508 (GRCm39)	C4S	probably damaging	Het
Gpt	C	A	15: 76,582,717 (GRCm39)	T294K	probably benign	Het
Hsd17b4	G	T	18: 50,279,491 (GRCm39)	G157C	probably damaging	Het
Iars1	G	A	13: 49,882,153 (GRCm39)	E1066K	probably benign	Het
Ifih1	G	A	2: 62,453,832 (GRCm39)	T260I	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ipcef1	T	A	10: 6,922,244 (GRCm39)	*338R	probably null	Het
Kif20a	A	G	18: 34,760,729 (GRCm39)	T166A	probably damaging	Het
Map3k1	G	A	13: 111,891,742 (GRCm39)	A1171V	probably damaging	Het
Map3k21	T	C	8: 126,661,855 (GRCm39)	F484S	probably damaging	Het
Mbnl1	A	T	3: 60,523,051 (GRCm39)	Q180L	probably benign	Het
Mmp2	T	C	8: 93,562,755 (GRCm39)	F331L	possibly damaging	Het
Ms4a7	G	T	19: 11,298,916 (GRCm39)	H257N	probably benign	Het
Mtbp	T	A	15: 55,432,547 (GRCm39)	S285T	probably benign	Het
Mtrex	A	T	13: 113,058,220 (GRCm39)	D70E	probably benign	Het
Myo1c	A	G	11: 75,562,068 (GRCm39)	N852S	probably benign	Het
Myom3	T	A	4: 135,510,429 (GRCm39)	F574Y	probably damaging	Het
Nbeal2	A	G	9: 110,457,100 (GRCm39)	I2322T	possibly damaging	Het
Nlrp10	A	G	7: 108,523,899 (GRCm39)	L527P	probably damaging	Het
Nudt16l2	A	T	9: 105,021,621 (GRCm39)	W142R	probably damaging	Het
Nxnl1	C	T	8: 72,019,105 (GRCm39)	G40D	probably damaging	Het
Or52n1	C	T	7: 104,382,815 (GRCm39)	C252Y	possibly damaging	Het
Or5af1	C	T	11: 58,722,115 (GRCm39)	T45M	probably benign	Het
Otof	A	T	5: 30,533,051 (GRCm39)	W1564R	probably damaging	Het
Pcdhga7	A	G	18: 37,850,327 (GRCm39)	Y778C	probably benign	Het
Pcnx2	C	T	8: 126,617,624 (GRCm39)		probably null	Het
Pdpr	T	A	8: 111,839,385 (GRCm39)	N169K	possibly damaging	Het
Pkd1l2	C	A	8: 117,762,641 (GRCm39)	V1379F	possibly damaging	Het
Ppp4r1	T	G	17: 66,144,786 (GRCm39)	I801S	probably benign	Het
Ppp4r4	A	T	12: 103,579,065 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,366,327 (GRCm39)	D202G	probably benign	Het
Rap1gap2	T	C	11: 74,305,237 (GRCm39)	T323A	probably benign	Het
Rapgef4	T	C	2: 72,036,010 (GRCm39)	M501T	probably benign	Het
Rbm6	A	G	9: 107,729,718 (GRCm39)	M310T	probably benign	Het
Rdh1	A	T	10: 127,596,047 (GRCm39)	I81F	probably benign	Het
Rock1	C	T	18: 10,097,599 (GRCm39)	A730T	possibly damaging	Het
Rsl1	C	T	13: 67,330,101 (GRCm39)	T183I	possibly damaging	Het
Scyl3	T	C	1: 163,778,487 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,237,236 (GRCm39)	F116L	probably damaging	Het
Syt5	A	T	7: 4,545,395 (GRCm39)		probably null	Het
Tat	T	C	8: 110,724,200 (GRCm39)	L363P	probably damaging	Het
Ttn	A	G	2: 76,601,316 (GRCm39)	V18719A	possibly damaging	Het
Ube2e2	T	A	14: 18,630,339 (GRCm38)	D107V	probably damaging	Het
Vmn1r64	A	G	7: 5,887,013 (GRCm39)	S177P	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,947 (GRCm39)	W214R	probably damaging	Het
Vmn2r25	A	T	6: 123,800,498 (GRCm39)	F615I	probably damaging	Het
Vmn2r91	G	T	17: 18,356,060 (GRCm39)	V576L	probably benign	Het
Vsig10l	A	C	7: 43,117,431 (GRCm39)	T573P	probably damaging	Het
Wdr93	A	G	7: 79,416,172 (GRCm39)	Q276R	probably null	Het
Zc3h7b	T	C	15: 81,653,354 (GRCm39)	V86A	possibly damaging	Het
Zeb1	T	A	18: 5,761,394 (GRCm39)	Y231N	probably damaging	Het
Zfp407	T	C	18: 84,579,944 (GRCm39)	K390E	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R1588:C4b	UTSW	17	34,959,999 (GRCm39)	missense	probably benign
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
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'- TACCCACAGACAGCTATGGC -3'
(R):5'- GATCAAAAGATGCGCCCATC -3'

Sequencing Primer
(F):5'- AGACAGCTATGGCCTGATTC -3'
(R):5'- GATGCGCCCATCCACTGATTTC -3'

Posted On

2019-09-13