Mutagenetix > Incidental Mutation

Incidental Mutation 'R8960:C4b'

682311

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement C4B (Chido blood group)

Synonyms

Ss, C4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8960 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34947354-34962856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34952892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1110 (D1110V)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably damaging
Transcript: ENSMUST00000069507
AA Change: D1110V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: D1110V

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

Coding Region Coverage

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

Validation Efficiency

100% (78/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	G	A	9: 44,186,063 (GRCm39)	Q603*	probably null	Het
Adar	A	G	3: 89,647,516 (GRCm39)	Y165C	probably damaging	Het
Afp	A	G	5: 90,651,500 (GRCm39)	T372A	probably benign	Het
Asah1	T	A	8: 41,800,061 (GRCm39)	L184F	probably damaging	Het
Bltp1	A	G	3: 37,067,132 (GRCm39)	E3548G	probably damaging	Het
Bpifb2	A	T	2: 153,731,046 (GRCm39)	I206F	possibly damaging	Het
Btn1a1	C	A	13: 23,648,741 (GRCm39)	D31Y	possibly damaging	Het
Ccdc162	T	A	10: 41,429,178 (GRCm39)	D1901V	probably damaging	Het
Cd101	A	G	3: 100,910,817 (GRCm39)	V947A	probably benign	Het
Cd55b	A	T	1: 130,338,375 (GRCm39)	S238T	possibly damaging	Het
Cdc25c	T	C	18: 34,866,329 (GRCm39)	I437V	possibly damaging	Het
Cfap97	T	C	8: 46,623,605 (GRCm39)	S332P	probably damaging	Het
Chpf	A	G	1: 75,452,398 (GRCm39)	L352P	probably damaging	Het
Cntln	T	A	4: 85,018,961 (GRCm39)	M1217K	possibly damaging	Het
Cntrl	A	G	2: 35,052,053 (GRCm39)	E1629G	possibly damaging	Het
Csnk1g2	T	C	10: 80,474,396 (GRCm39)	Y206H	probably damaging	Het
Cyp2c55	T	A	19: 38,995,547 (GRCm39)	W20R	probably null	Het
Dhx35	A	T	2: 158,657,393 (GRCm39)	H130L	possibly damaging	Het
Dnm1	A	G	2: 32,202,741 (GRCm39)	V54A	probably damaging	Het
Eea1	T	A	10: 95,864,381 (GRCm39)	S967T	probably benign	Het
Efcab3	A	G	11: 104,820,772 (GRCm39)		probably benign	Het
Elf3	A	T	1: 135,182,813 (GRCm39)	I304N	probably damaging	Het
Eps8l1	G	T	7: 4,481,214 (GRCm39)	R672L	probably damaging	Het
Fam163a	A	T	1: 155,954,862 (GRCm39)	C96*	probably null	Het
Fancd2	T	C	6: 113,540,129 (GRCm39)		probably null	Het
Fbxo3	C	T	2: 103,858,274 (GRCm39)	L23F	possibly damaging	Het
Fbxw14	A	G	9: 109,114,367 (GRCm39)	V121A	possibly damaging	Het
Fgd6	T	A	10: 93,880,868 (GRCm39)	V574D	probably benign	Het
Gask1b	T	C	3: 79,794,293 (GRCm39)	S254P	probably benign	Het
Gbp11	A	G	5: 105,479,251 (GRCm39)	F124S	probably damaging	Het
Grin1	A	T	2: 25,195,428 (GRCm39)		probably benign	Het
Grm2	T	G	9: 106,531,345 (GRCm39)	E48A	probably benign	Het
H2-M10.5	T	A	17: 37,084,770 (GRCm39)	Y165N	probably benign	Het
Hoxa13	A	C	6: 52,236,976 (GRCm39)	S172A	probably benign	Het
Ifih1	T	A	2: 62,442,235 (GRCm39)	K376N	possibly damaging	Het
Insrr	C	A	3: 87,720,386 (GRCm39)	T1008K	probably damaging	Het
Itih1	A	G	14: 30,655,414 (GRCm39)	S594P	probably damaging	Het
Kidins220	T	C	12: 25,106,914 (GRCm39)	S1365P	probably benign	Het
Malrd1	A	T	2: 15,570,241 (GRCm39)	K158*	probably null	Het
Man2c1	G	A	9: 57,045,279 (GRCm39)	G504R	probably damaging	Het
Mbd1	T	C	18: 74,406,890 (GRCm39)		probably null	Het
Micall2	G	A	5: 139,702,025 (GRCm39)	A323V	probably benign	Het
Mroh9	A	C	1: 162,883,196 (GRCm39)	F428V	probably benign	Het
Myo7b	T	A	18: 32,127,299 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,591,463 (GRCm39)	H535L	possibly damaging	Het
Obscn	A	T	11: 58,922,438 (GRCm39)	V6567E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,230 (GRCm39)	S207A	unknown	Het
Or1e33	A	T	11: 73,738,167 (GRCm39)	C261*	probably null	Het
Or2g25	T	A	17: 37,970,760 (GRCm39)	T155S	probably benign	Het
Or2y1d	A	T	11: 49,321,543 (GRCm39)	Q80L	probably benign	Het
Or5h25	T	A	16: 58,930,555 (GRCm39)	R139S	probably benign	Het
Or8b53	A	T	9: 38,667,385 (GRCm39)	I134F	possibly damaging	Het
Pde4dip	T	C	3: 97,700,464 (GRCm39)	D238G	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pgbd5	T	A	8: 125,111,175 (GRCm39)	Y172F	probably benign	Het
Pkd1	A	G	17: 24,795,176 (GRCm39)	T2288A	probably damaging	Het
Ppp6r2	T	A	15: 89,137,239 (GRCm39)	M1K	probably null	Het
Rc3h1	A	G	1: 160,774,164 (GRCm39)	T344A	probably damaging	Het
Rgs5	T	C	1: 169,504,461 (GRCm39)	V37A	possibly damaging	Het
Rgs9	A	G	11: 109,139,815 (GRCm39)	S17P	possibly damaging	Het
Rusc1	T	A	3: 88,991,865 (GRCm39)	D407V	probably damaging	Het
Rwdd1	T	A	10: 33,895,383 (GRCm39)	I18F	possibly damaging	Het
Satb2	C	T	1: 56,910,470 (GRCm39)		probably null	Het
Sds	A	G	5: 120,621,659 (GRCm39)	E267G	probably damaging	Het
Sema4b	T	A	7: 79,875,076 (GRCm39)	V822E	probably damaging	Het
Sfxn5	A	T	6: 85,266,176 (GRCm39)	M107K	probably damaging	Het
Slc5a8	C	T	10: 88,722,035 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Syt14	A	C	1: 192,666,515 (GRCm39)		probably benign	Het
Vmn2r124	T	G	17: 18,283,291 (GRCm39)	Y328*	probably null	Het
Vmn2r86	T	A	10: 130,289,672 (GRCm39)	E74D	probably benign	Het
Vmo1	A	C	11: 70,404,476 (GRCm39)	L175W	probably damaging	Het
Vps13a	G	T	19: 16,683,247 (GRCm39)	L982I	possibly damaging	Het
Wdr19	T	C	5: 65,398,211 (GRCm39)	V812A	probably benign	Het
Wdr27	T	C	17: 15,103,908 (GRCm39)	I733V	probably benign	Het
Wdr54	A	T	6: 83,132,739 (GRCm39)	H38Q	probably damaging	Het
Wdr76	G	A	2: 121,341,104 (GRCm39)	V50I	probably damaging	Het
Zfp930	T	A	8: 69,680,541 (GRCm39)	N59K	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly damaging	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
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
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'- ATGACCACAAAGGCGGTCAG -3'
(R):5'- CTCCTTTGGGGCTTGGTTACAC -3'

Sequencing Primer
(F):5'- AGTGCCACTGTCTCGTCAG -3'
(R):5'- TTGGTTACACCGGGACAGCAG -3'

Posted On

2021-08-31