Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:C4b'

92077

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 #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

34947354-34962856 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 34961993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably benign
Transcript: ENSMUST00000069507

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,856 (GRCm39)	V105A	probably benign	Het
Acr	T	C	15: 89,452,617 (GRCm39)	V18A	probably benign	Het
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 44,791,517 (GRCm39)	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,629,191 (GRCm39)	Y338N	probably benign	Het
Aox3	C	T	1: 58,208,953 (GRCm39)	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,644,353 (GRCm39)	S1535P	probably benign	Het
Ccdc157	A	G	11: 4,098,781 (GRCm39)	C242R	probably damaging	Het
Cep135	T	A	5: 76,741,194 (GRCm39)	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,194,057 (GRCm39)		probably null	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Copb2	T	C	9: 98,463,203 (GRCm39)	S473P	probably damaging	Het
Cpb1	C	T	3: 20,306,118 (GRCm39)		probably null	Het
Cpsf1	A	G	15: 76,480,741 (GRCm39)	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,360,328 (GRCm39)	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,492,743 (GRCm39)	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,272,421 (GRCm39)	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,077,482 (GRCm39)	V287M	probably damaging	Het
Fras1	T	C	5: 96,857,750 (GRCm39)	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,258,985 (GRCm39)		probably benign	Het
Gprc5c	A	G	11: 114,755,078 (GRCm39)	I252V	probably benign	Het
Ints3	C	T	3: 90,301,629 (GRCm39)		probably null	Het
L1td1	A	G	4: 98,625,581 (GRCm39)	D592G	probably damaging	Het
Lamb3	A	G	1: 193,025,720 (GRCm39)	M1137V	probably benign	Het
Leng8	C	A	7: 4,148,481 (GRCm39)	A751E	probably benign	Het
Lfng	T	C	5: 140,598,290 (GRCm39)	V204A	probably damaging	Het
Lsm14b	A	G	2: 179,674,396 (GRCm39)	D233G	probably damaging	Het
Map4	C	T	9: 109,863,836 (GRCm39)	P354S	probably benign	Het
Mapt	G	A	11: 104,185,741 (GRCm39)	V53M	probably damaging	Het
Mier1	T	G	4: 103,012,738 (GRCm39)	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,399,660 (GRCm39)	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,875 (GRCm39)	A257V	probably damaging	Het
Nup188	T	C	2: 30,217,537 (GRCm39)	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,258,750 (GRCm39)	S333P	probably damaging	Het
Or7g30	T	G	9: 19,353,111 (GRCm39)	F301V	probably benign	Het
Or9a4	A	C	6: 40,549,186 (GRCm39)	I289L	probably damaging	Het
Pbxip1	C	A	3: 89,350,897 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,633,124 (GRCm39)	C38F	probably damaging	Het
Plb1	A	T	5: 32,499,888 (GRCm39)		probably benign	Het
Plcz1	T	C	6: 139,947,982 (GRCm39)		probably benign	Het
Plxnb1	T	C	9: 108,939,672 (GRCm39)	V1447A	probably damaging	Het
Pnldc1	A	T	17: 13,125,415 (GRCm39)	M73K	probably benign	Het
Psg20	C	T	7: 18,414,963 (GRCm39)	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,478,155 (GRCm39)		probably null	Het
Rabgap1	T	C	2: 37,446,281 (GRCm39)	V859A	probably damaging	Het
Rad51b	T	A	12: 79,374,002 (GRCm39)	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,318,995 (GRCm39)	Q788*	probably null	Het
Ror2	C	T	13: 53,265,653 (GRCm39)	G468R	probably damaging	Het
Slamf7	A	G	1: 171,468,754 (GRCm39)	I46T	possibly damaging	Het
Stab2	A	G	10: 86,758,759 (GRCm39)	S1060P	probably damaging	Het
Syndig1	T	A	2: 149,845,203 (GRCm39)	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,266,317 (GRCm39)	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,436,616 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,188 (GRCm39)	Y103H	probably damaging	Het
Tut4	T	C	4: 108,370,596 (GRCm39)	S871P	possibly damaging	Het
Ubr3	T	C	2: 69,768,522 (GRCm39)	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,069,520 (GRCm39)	C749F	probably damaging	Het
Ulk2	G	T	11: 61,682,262 (GRCm39)	S751*	probably null	Het
Wrn	G	A	8: 33,731,039 (GRCm39)	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,385,508 (GRCm39)	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,547,163 (GRCm39)	S223P	probably 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
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

2013-12-09