Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03165:C4b'

411578

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03165

Quality Score

Status

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34739955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 500 (F500S)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably benign
Transcript: ENSMUST00000069507
AA Change: F500S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: F500S

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,094,394 (GRCm38)	I334V	probably benign	Het
Axdnd1	T	A	1: 156,378,389 (GRCm38)	Y519F	probably benign	Het
Cacng2	A	T	15: 77,995,663 (GRCm38)	I153N	possibly damaging	Het
Ces1d	T	A	8: 93,189,519 (GRCm38)	H160L	probably benign	Het
Cnnm3	T	G	1: 36,525,232 (GRCm38)		probably benign	Het
Ctnna3	A	G	10: 64,945,941 (GRCm38)	T728A	probably damaging	Het
Cyp2g1	G	A	7: 26,809,776 (GRCm38)	V92M	possibly damaging	Het
Dock2	C	A	11: 34,687,533 (GRCm38)	V35F	probably damaging	Het
Eif2a	C	A	3: 58,548,628 (GRCm38)	Y349*	probably null	Het
Erp44	C	T	4: 48,236,872 (GRCm38)		probably null	Het
Flg2	C	T	3: 93,214,611 (GRCm38)	H1363Y	unknown	Het
Flnc	G	T	6: 29,449,378 (GRCm38)	G1425W	probably damaging	Het
Frem3	A	G	8: 80,612,529 (GRCm38)	N484D	probably benign	Het
Fstl3	A	G	10: 79,779,965 (GRCm38)	D95G	probably benign	Het
Gldc	A	G	19: 30,098,993 (GRCm38)	S1018P	possibly damaging	Het
Gstk1	T	G	6: 42,249,434 (GRCm38)	I159S	probably benign	Het
Herc2	A	G	7: 56,191,912 (GRCm38)	E3513G	probably damaging	Het
Hpca	A	T	4: 129,118,590 (GRCm38)	I51N	probably damaging	Het
Hsd17b7	C	T	1: 169,953,080 (GRCm38)	E320K	probably damaging	Het
Igkv4-74	T	C	6: 69,185,305 (GRCm38)		probably benign	Het
Kdm7a	C	A	6: 39,170,914 (GRCm38)		probably benign	Het
Or1e23	A	T	11: 73,516,884 (GRCm38)	L105*	probably null	Het
Or52z14	T	C	7: 103,604,011 (GRCm38)	I119T	probably damaging	Het
Or5al6	A	C	2: 86,146,068 (GRCm38)	L222R	possibly damaging	Het
Pa2g4	A	T	10: 128,559,060 (GRCm38)		probably null	Het
Pdlim3	T	A	8: 45,918,998 (GRCm38)	L360Q	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745 (GRCm38)	T436I	probably benign	Het
Polk	T	A	13: 96,516,688 (GRCm38)	Q68L	probably benign	Het
Ppfia2	T	G	10: 106,767,487 (GRCm38)	L195R	probably damaging	Het
Ranbp1	A	T	16: 18,247,281 (GRCm38)		probably benign	Het
Rbm12b1	A	G	4: 12,145,845 (GRCm38)	R606G	possibly damaging	Het
Ryr1	A	G	7: 29,105,040 (GRCm38)	V488A	probably benign	Het
Sall2	A	T	14: 52,314,168 (GRCm38)	D521E	probably damaging	Het
Sntg1	A	T	1: 8,445,104 (GRCm38)	C402S	probably damaging	Het
Spg7	T	C	8: 123,080,812 (GRCm38)		probably null	Het
Stk31	G	A	6: 49,445,264 (GRCm38)	E750K	probably damaging	Het
Tlr2	A	G	3: 83,837,948 (GRCm38)	I276T	probably benign	Het
Trav12-2	A	T	14: 53,616,749 (GRCm38)	H60L	probably benign	Het
Urb1	A	G	16: 90,780,304 (GRCm38)	L775S	probably damaging	Het
Utp14b	A	G	1: 78,664,520 (GRCm38)	D45G	probably damaging	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
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
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

Posted On

2016-08-02