Mutagenetix > Incidental Mutation

Incidental Mutation 'R6962:C4b'

568373

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement C4B (Chido blood group)

Synonyms

Ss, C4

MMRRC Submission

045072-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34947354-34962856 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 34951140 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 null
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

probably benign
Transcript: ENSMUST00000173057

SMART Domains

Protein: ENSMUSP00000134611
Gene: ENSMUSG00000073418

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

96% (74/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,150 (GRCm39)	K1016E	probably benign	Het
Abca3	T	C	17: 24,583,700 (GRCm39)	F30L	probably benign	Het
Arhgap17	C	T	7: 122,895,655 (GRCm39)	G490R	probably damaging	Het
Arsg	T	A	11: 109,412,495 (GRCm39)	L140H	probably damaging	Het
Bmp2k	T	A	5: 97,179,097 (GRCm39)	C130*	probably null	Het
Cdk5r2	A	G	1: 74,894,975 (GRCm39)	Y240C	probably damaging	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Col27a1	A	G	4: 63,237,738 (GRCm39)		probably benign	Het
Cubn	G	A	2: 13,352,840 (GRCm39)	S1966F	probably benign	Het
Dnajc13	T	C	9: 104,058,208 (GRCm39)	Y1509C	probably benign	Het
Dpp4	A	G	2: 62,203,174 (GRCm39)	V265A	probably benign	Het
Dync2i1	A	T	12: 116,175,398 (GRCm39)	D926E	probably damaging	Het
Fbxl8	C	A	8: 105,995,338 (GRCm39)	N283K	possibly damaging	Het
Fev	T	A	1: 74,921,299 (GRCm39)	Q122L	probably benign	Het
Fgd4	T	A	16: 16,301,951 (GRCm39)		probably null	Het
Fnip2	A	C	3: 79,396,610 (GRCm39)	L439R	probably damaging	Het
Git1	C	A	11: 77,395,469 (GRCm39)	Q389K	probably benign	Het
Gm10509	C	G	17: 21,909,833 (GRCm39)	I53M	possibly damaging	Het
Gm5773	A	T	3: 93,681,234 (GRCm39)	H302L	possibly damaging	Het
Greb1l	G	T	18: 10,547,327 (GRCm39)	R1515L	probably damaging	Het
Gsc2	T	C	16: 17,732,902 (GRCm39)	Y2C	possibly damaging	Het
H60b	A	G	10: 22,162,053 (GRCm39)	N93D	probably benign	Het
Hgf	G	A	5: 16,820,752 (GRCm39)	R633Q	probably benign	Het
Hmgb1	C	T	5: 148,985,633 (GRCm39)		probably benign	Het
Hmmr	T	C	11: 40,598,242 (GRCm39)	T657A	probably damaging	Het
Htt	G	T	5: 35,057,115 (GRCm39)		probably null	Het
Ift80	G	A	3: 68,901,878 (GRCm39)		probably benign	Het
Kcnq5	G	T	1: 21,576,017 (GRCm39)	T229K	probably damaging	Het
Kcp	C	T	6: 29,482,839 (GRCm39)	R1410Q	probably benign	Het
Klhl30	T	G	1: 91,285,137 (GRCm39)	V331G	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc37	G	A	11: 103,505,126 (GRCm39)	P105S	possibly damaging	Het
Macf1	C	T	4: 123,334,515 (GRCm39)	R2849Q	probably benign	Het
Mex3b	T	G	7: 82,518,473 (GRCm39)	S263A	probably benign	Het
Mrgpre	A	G	7: 143,334,799 (GRCm39)	S235P	probably damaging	Het
Myh14	A	T	7: 44,307,363 (GRCm39)	V226D	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nudt8	G	T	19: 4,051,831 (GRCm39)	L147F	probably damaging	Het
Or2aj5	T	A	16: 19,424,672 (GRCm39)	I249L	probably benign	Het
Or52e8	T	A	7: 104,624,580 (GRCm39)	N208I	probably benign	Het
Or5w17	A	G	2: 87,584,071 (GRCm39)	Y89H	probably benign	Het
Or6z7	A	T	7: 6,484,008 (GRCm39)	I49N	probably benign	Het
P4htm	C	A	9: 108,456,394 (GRCm39)	A469S	possibly damaging	Het
Pld4	A	T	12: 112,733,288 (GRCm39)	H288L	probably benign	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppcs	T	G	4: 119,279,375 (GRCm39)	N59T	probably damaging	Het
Ppm1k	A	T	6: 57,492,645 (GRCm39)	C214S	probably damaging	Het
Psg25	C	T	7: 18,263,679 (GRCm39)	G48E	probably damaging	Het
Rassf7	A	G	7: 140,797,503 (GRCm39)	T239A	possibly damaging	Het
Rgs3	G	T	4: 62,618,952 (GRCm39)		probably benign	Het
Scaper	T	C	9: 55,767,055 (GRCm39)	T465A	probably benign	Het
Slc4a7	G	T	14: 14,746,021 (GRCm38)	G405C	probably damaging	Het
Smpd3	T	C	8: 106,991,851 (GRCm39)	D234G	probably benign	Het
Spata31f1e	T	C	4: 42,793,323 (GRCm39)	T270A	probably damaging	Het
Ssc4d	A	G	5: 135,991,775 (GRCm39)		probably null	Het
Sugct	G	T	13: 17,032,606 (GRCm39)		probably null	Het
Taok2	C	A	7: 126,466,088 (GRCm39)		probably null	Het
Tbx20	A	G	9: 24,681,036 (GRCm39)	V152A	probably damaging	Het
Tbx4	A	G	11: 85,781,085 (GRCm39)	E66G	probably benign	Het
Thbs2	T	C	17: 14,902,082 (GRCm39)	E382G	probably benign	Het
Ticrr	T	G	7: 79,315,645 (GRCm39)	S300A	possibly damaging	Het
Trim46	A	G	3: 89,146,303 (GRCm39)	L396P	probably damaging	Het
Trim56	A	G	5: 137,141,501 (GRCm39)	F672L	probably damaging	Het
Ttf2	A	G	3: 100,858,453 (GRCm39)	L712S	probably damaging	Het
Unc93b1	T	G	19: 3,986,303 (GRCm39)	D112E	possibly damaging	Het
Usp17lc	T	C	7: 103,068,118 (GRCm39)	L471P	probably benign	Het
Vmn2r85	A	G	10: 130,261,452 (GRCm39)	I295T	probably damaging	Het
Vmn2r96	T	G	17: 18,818,283 (GRCm39)	I812S	probably damaging	Het
Wdr7	G	A	18: 63,998,359 (GRCm39)	C1102Y	possibly damaging	Het
Wnt9b	G	T	11: 103,624,515 (GRCm39)	Q92K	probably null	Het
Zbtb26	A	T	2: 37,326,106 (GRCm39)	M310K	possibly damaging	Het
Zdhhc1	T	C	8: 106,210,279 (GRCm39)	H46R	probably damaging	Het
Zfp628	G	T	7: 4,922,549 (GRCm39)	R257L	probably benign	Het
Zfp747l1	A	T	7: 126,983,487 (GRCm39)	D538E	possibly damaging	Het
Zmat4	A	G	8: 24,392,181 (GRCm39)	T46A	probably benign	Het
Zmiz2	T	A	11: 6,352,455 (GRCm39)	W637R	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTACTCCATGTCCAACTCC -3'
(R):5'- GTCTAGTTGTTCTGGAGATTGACAC -3'

Sequencing Primer
(F):5'- TACTAAAGCCCCTGTACACTTTAC -3'
(R):5'- CTGTAGCCAAGCACAAGTTTCTGTG -3'

Posted On

2019-07-11