Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00471:C4b'

3865

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00471

Quality Score

Status

Chromosome

Chromosomal Location

34947354-34962856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34953403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 1027 (T1027P)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably damaging
Transcript: ENSMUST00000069507
AA Change: T1027P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: T1027P

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

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,657,661 (GRCm39)	V2793A	probably damaging	Het
Agbl2	A	G	2: 90,631,389 (GRCm39)	Y249C	probably damaging	Het
Anks1	T	C	17: 28,277,390 (GRCm39)	S1082P	possibly damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Clec4d	A	T	6: 123,251,732 (GRCm39)	I205F	probably damaging	Het
Cpeb2	A	T	5: 43,443,174 (GRCm39)	Y955F	probably damaging	Het
Cst13	T	A	2: 148,672,224 (GRCm39)	M133K	probably damaging	Het
Dnah10	T	C	5: 124,871,405 (GRCm39)	L2418P	probably damaging	Het
Gli3	T	C	13: 15,898,354 (GRCm39)		probably null	Het
Hgfac	C	A	5: 35,203,870 (GRCm39)	H463N	probably damaging	Het
Hlx	A	T	1: 184,463,792 (GRCm39)	F183I	probably damaging	Het
Ighv1-5	T	G	12: 114,477,093 (GRCm39)	I70L	probably benign	Het
Ltbp2	T	C	12: 84,837,838 (GRCm39)	T1181A	probably damaging	Het
Morn1	A	C	4: 155,176,785 (GRCm39)	K140Q	possibly damaging	Het
Nek1	A	T	8: 61,496,318 (GRCm39)	M358L	probably benign	Het
Pcbd2	C	T	13: 55,924,413 (GRCm39)		probably benign	Het
Pramel7	A	T	2: 87,321,429 (GRCm39)	L202Q	probably damaging	Het
Shq1	A	G	6: 100,641,444 (GRCm39)	S146P	probably benign	Het
Slc25a21	T	C	12: 56,764,922 (GRCm39)		probably null	Het
Slc26a7	A	T	4: 14,548,403 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,475,147 (GRCm39)		probably benign	Het
Stam2	T	C	2: 52,610,947 (GRCm39)	D25G	probably damaging	Het
Tbx18	A	T	9: 87,587,676 (GRCm39)	D480E	possibly damaging	Het
Tmem26	A	T	10: 68,614,511 (GRCm39)	I309F	possibly damaging	Het
Ube2c	A	G	2: 164,613,213 (GRCm39)	T44A	probably benign	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
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
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

Posted On

2012-04-20