Mutagenetix > Incidental Mutation

Incidental Mutation 'R2379:C4b'

248402

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

MMRRC Submission

040355-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2379 (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 34735743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 860 (D860G)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069507
AA Change: D860G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: D860G

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
AA Change: D56G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134611
Gene: ENSMUSG00000073418
AA Change: D56G

Domain	Start	End	E-Value	Type
Pfam:A2M	1	62	6.5e-20	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

93% (37/40)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	T	7: 140,299,769 (GRCm38)	D990V	probably benign	Het
9930021J03Rik	G	T	19: 29,718,875 (GRCm38)	Q1140K	probably benign	Het
Aff4	T	C	11: 53,408,478 (GRCm38)		probably benign	Het
Anpep	T	C	7: 79,841,218 (GRCm38)	T209A	probably benign	Het
Asb16	A	G	11: 102,272,531 (GRCm38)	T116A	probably benign	Het
Btc	A	T	5: 91,376,909 (GRCm38)		probably benign	Het
Cd177	G	A	7: 24,758,043 (GRCm38)	T191I	possibly damaging	Het
Cngb1	A	G	8: 95,260,130 (GRCm38)	L378P	probably damaging	Het
Ddx60	T	C	8: 62,037,088 (GRCm38)	F1697S	probably damaging	Het
Dopey1	G	A	9: 86,521,085 (GRCm38)	S1446N	probably damaging	Het
Fn1	T	A	1: 71,649,284 (GRCm38)	K154*	probably null	Het
Gm10801	G	T	2: 98,663,840 (GRCm38)	S109I	probably benign	Het
Ifi204	T	A	1: 173,755,993 (GRCm38)	R220*	probably null	Het
Limk1	A	G	5: 134,679,481 (GRCm38)		probably benign	Het
Mcm2	G	A	6: 88,893,008 (GRCm38)	R60C	probably damaging	Het
Mms22l	T	A	4: 24,496,929 (GRCm38)	S8T	possibly damaging	Het
Mpp7	T	A	18: 7,403,345 (GRCm38)	R322*	probably null	Het
Mycbp2	T	C	14: 103,174,950 (GRCm38)	N2529S	probably benign	Het
Npr3	A	G	15: 11,883,363 (GRCm38)	F327L	probably damaging	Het
Olfr295	T	G	7: 86,586,192 (GRCm38)	F306V	probably benign	Het
Olfr310	T	C	7: 86,269,649 (GRCm38)	T47A	probably damaging	Het
Olfr491	T	C	7: 108,317,292 (GRCm38)	S133P	probably benign	Het
Olfr530	A	T	7: 140,372,835 (GRCm38)	Y258*	probably null	Het
Olfr561	A	T	7: 102,774,845 (GRCm38)	H107L	probably benign	Het
Olfr815	A	T	10: 129,901,912 (GRCm38)	V266E	probably damaging	Het
Olfr873	T	C	9: 20,300,667 (GRCm38)	S157P	possibly damaging	Het
Pld2	A	T	11: 70,554,314 (GRCm38)	Y580F	probably benign	Het
Sik3	A	G	9: 46,155,409 (GRCm38)	E162G	probably damaging	Het
Sla2	G	A	2: 156,875,942 (GRCm38)	R137C	probably damaging	Het
Spen	T	C	4: 141,516,927 (GRCm38)	T266A	unknown	Het
Tnks1bp1	A	G	2: 85,063,838 (GRCm38)	S1370G	probably benign	Het
Usp28	A	G	9: 49,003,095 (GRCm38)	R99G	probably null	Het
Vmn2r13	T	G	5: 109,171,778 (GRCm38)	E445D	probably benign	Het
Vmn2r27	A	G	6: 124,224,383 (GRCm38)	I205T	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGAATCTTAGACACAGCATCCC -3'
(R):5'- AGGTCCATCTCTGTCACTGC -3'

Sequencing Primer
(F):5'- AGAACCTGCTGGCACTGTCAC -3'
(R):5'- ATCTCTGTCACTGCCCCATC -3'

Posted On

2014-11-11