Mutagenetix > Incidental Mutation

Incidental Mutation 'R4299:C4b'

323517

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

MMRRC Submission

041087-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34731144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1384 (D1384G)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069507
AA Change: D1384G

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: D1384G

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

0.1128

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	A	G	5: 31,487,526 (GRCm38)	R208G	possibly damaging	Het
Abcc12	T	C	8: 86,531,525 (GRCm38)		probably null	Het
Akna	A	T	4: 63,398,032 (GRCm38)	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,313,378 (GRCm38)	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,283,724 (GRCm38)	Y47*	probably null	Het
AW551984	T	C	9: 39,592,979 (GRCm38)	T564A	probably benign	Het
BC048403	C	A	10: 121,745,446 (GRCm38)	H117Q	probably benign	Het
C87499	T	C	4: 88,628,182 (GRCm38)	K137E	probably damaging	Het
Cbfa2t2	G	A	2: 154,523,928 (GRCm38)	V353I	probably damaging	Het
Cdh7	T	C	1: 110,061,001 (GRCm38)	I211T	probably damaging	Het
Cep170b	T	C	12: 112,739,305 (GRCm38)	S1166P	probably damaging	Het
Col9a2	C	G	4: 121,054,258 (GRCm38)	R599G	probably damaging	Het
Crygs	G	A	16: 22,805,411 (GRCm38)	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,183,928 (GRCm38)	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,573,677 (GRCm38)	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,819,925 (GRCm38)	T3645A	probably damaging	Het
Dolk	A	T	2: 30,285,188 (GRCm38)	W282R	probably damaging	Het
Dsg2	T	A	18: 20,595,951 (GRCm38)		probably null	Het
Dysf	A	G	6: 84,068,077 (GRCm38)	T297A	possibly damaging	Het
Flt1	G	T	5: 147,683,907 (GRCm38)	D142E	probably benign	Het
Frmd4a	C	A	2: 4,333,071 (GRCm38)	N29K	probably benign	Het
Fxyd7	A	T	7: 31,044,982 (GRCm38)	M36K	probably benign	Het
Gabbr1	C	T	17: 37,055,900 (GRCm38)	R178*	probably null	Het
Gm14139	G	A	2: 150,190,733 (GRCm38)	D17N	probably damaging	Het
Gnal	C	G	18: 67,088,583 (GRCm38)	P19R	unknown	Het
Gprc5b	G	A	7: 118,984,214 (GRCm38)	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 87,300,707 (GRCm38)	I194N	probably damaging	Het
Klhl24	T	C	16: 20,107,004 (GRCm38)	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,464,914 (GRCm38)	I133N	probably damaging	Het
Macf1	A	G	4: 123,399,406 (GRCm38)	I5381T	probably damaging	Het
Madd	A	G	2: 91,169,803 (GRCm38)	L197P	probably damaging	Het
Mapkapk3	G	A	9: 107,257,449 (GRCm38)	T296M	probably damaging	Het
Micall2	T	C	5: 139,709,471 (GRCm38)		probably benign	Het
Myh9	T	C	15: 77,769,964 (GRCm38)	T1214A	probably benign	Het
Ncapd3	A	G	9: 27,052,327 (GRCm38)	N492S	probably benign	Het
Neurl4	A	C	11: 69,909,061 (GRCm38)	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,250,599 (GRCm38)		probably null	Het
Olfr1052	A	T	2: 86,298,241 (GRCm38)	I142F	possibly damaging	Het
Olfr27	T	C	9: 39,144,999 (GRCm38)	S300P	probably benign	Het
Olfr380	A	T	11: 73,454,001 (GRCm38)	D70E	probably damaging	Het
Olfr421-ps1	T	A	1: 174,152,312 (GRCm38)	Y265*	probably null	Het
Olfr53	T	C	7: 140,652,243 (GRCm38)	V88A	probably benign	Het
Olfr67	T	A	7: 103,787,995 (GRCm38)	H94L	probably benign	Het
Olfr901	T	G	9: 38,430,812 (GRCm38)	Y177D	probably damaging	Het
Olfr933	T	A	9: 38,975,759 (GRCm38)	F28I	probably damaging	Het
Patj	C	A	4: 98,677,321 (GRCm38)	N1090K	possibly damaging	Het
Pde8a	A	G	7: 81,328,035 (GRCm38)	D692G	probably benign	Het
Ppa2	G	T	3: 133,367,842 (GRCm38)	K220N	probably damaging	Het
Rad54b	A	G	4: 11,597,865 (GRCm38)	H250R	probably damaging	Het
Reln	A	C	5: 21,920,487 (GRCm38)	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,383,753 (GRCm38)	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 58,893,523 (GRCm38)		noncoding transcript	Het
Scn11a	T	G	9: 119,765,506 (GRCm38)	I1274L	probably damaging	Het
Sco1	A	T	11: 67,055,800 (GRCm38)	H133L	possibly damaging	Het
Slc4a8	T	C	15: 100,796,640 (GRCm38)		probably null	Het
Smc2	C	T	4: 52,440,238 (GRCm38)		probably benign	Het
Spata18	T	C	5: 73,666,902 (GRCm38)	I156T	probably benign	Het
St3gal2	T	C	8: 110,962,359 (GRCm38)	M177T	probably benign	Het
Stt3a	A	G	9: 36,763,344 (GRCm38)	F48L	probably damaging	Het
Syvn1	C	T	19: 6,049,921 (GRCm38)		probably benign	Het
Szt2	A	G	4: 118,365,406 (GRCm38)		probably benign	Het
Telo2	A	T	17: 25,115,256 (GRCm38)	S6T	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,252,095 (GRCm38)	M369V	probably benign	Het
Tnfrsf13b	C	G	11: 61,140,817 (GRCm38)		probably null	Het
Vmn1r234	A	T	17: 21,229,021 (GRCm38)	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,091,964 (GRCm38)	M244I	probably benign	Het
Wdfy2	T	A	14: 62,925,140 (GRCm38)	L97*	probably null	Het
Wdr63	C	T	3: 146,068,806 (GRCm38)	D429N	probably damaging	Het
Xrcc5	T	C	1: 72,394,720 (GRCm38)	*733Q	probably null	Het
Zadh2	A	T	18: 84,094,501 (GRCm38)	I101F	possibly damaging	Het
Zfp516	G	A	18: 82,987,497 (GRCm38)	G842D	possibly damaging	Het
Zwilch	A	G	9: 64,155,162 (GRCm38)		probably null	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
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
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'- TCATTGGCATCCCCTGTGTAG -3'
(R):5'- CATCTTTGCTGTGCCCAGTG -3'

Sequencing Primer
(F):5'- TGTAGTACAGTGGTGAGGAGGC -3'
(R):5'- CCCAGGCTATGAGAGAAGCC -3'

Posted On

2015-06-20