Mutagenetix > Incidental Mutation

Incidental Mutation 'R8944:C4b'

681205

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement C4B (Chido blood group)

Synonyms

Ss, C4

MMRRC Submission

068783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34947354-34962856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34961913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 111 (Q111R)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably benign
Transcript: ENSMUST00000069507
AA Change: Q111R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: Q111R

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,049,851 (GRCm39)		probably benign	Het
A830018L16Rik	A	T	1: 11,484,706 (GRCm39)		probably benign	Het
Acox1	C	T	11: 116,066,040 (GRCm39)	R454H	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
AI182371	A	C	2: 34,990,622 (GRCm39)	L25R	probably damaging	Het
Ankrd12	A	C	17: 66,277,195 (GRCm39)	Y2026*	probably null	Het
Atad5	C	T	11: 79,986,524 (GRCm39)	T537M	possibly damaging	Het
Atosa	A	G	9: 74,911,562 (GRCm39)	Y11C	probably damaging	Het
Avil	G	T	10: 126,846,455 (GRCm39)	G420V	probably damaging	Het
Bche	A	T	3: 73,608,008 (GRCm39)	F473I	probably damaging	Het
Borcs5	T	C	6: 134,621,437 (GRCm39)		probably null	Het
Carmil2	T	A	8: 106,417,437 (GRCm39)	I565N	probably damaging	Het
Cd74	T	C	18: 60,943,127 (GRCm39)	M155T	probably damaging	Het
Chrnd	G	T	1: 87,119,997 (GRCm39)	R105L	probably damaging	Het
Clpp	G	T	17: 57,300,553 (GRCm39)	E217*	probably null	Het
Cpq	T	A	15: 33,594,269 (GRCm39)	Y427N	probably damaging	Het
Crxos	G	A	7: 15,636,900 (GRCm39)	E54K	possibly damaging	Het
Dcaf13	A	G	15: 39,001,612 (GRCm39)	R307G	possibly damaging	Het
Ddx55	A	G	5: 124,706,788 (GRCm39)	D595G	probably damaging	Het
Dld	T	A	12: 31,390,868 (GRCm39)	I193F	possibly damaging	Het
Dnah11	T	G	12: 118,091,381 (GRCm39)	E917A	possibly damaging	Het
Dnai2	T	A	11: 114,641,302 (GRCm39)	Y376N	possibly damaging	Het
Dock7	A	G	4: 98,829,243 (GRCm39)	Y2078H	probably damaging	Het
Dusp4	A	T	8: 35,274,941 (GRCm39)	N20I	probably benign	Het
Dzank1	A	G	2: 144,333,729 (GRCm39)	L367P	probably benign	Het
Eea1	T	A	10: 95,832,822 (GRCm39)	D222E	probably damaging	Het
Erich3	G	C	3: 154,462,692 (GRCm39)	R742S		Het
Erich6	C	T	3: 58,537,275 (GRCm39)	M246I	probably benign	Het
Galnt16	T	G	12: 80,623,314 (GRCm39)	I158S	probably damaging	Het
Gm28363	A	G	1: 117,655,080 (GRCm39)	T100A	possibly damaging	Het
Gm8257	A	T	14: 44,893,849 (GRCm39)	Y36N	probably damaging	Het
Gmpr2	T	C	14: 55,913,149 (GRCm39)	V142A	possibly damaging	Het
Grid2ip	T	C	5: 143,366,260 (GRCm39)		probably null	Het
Hamp2	A	G	7: 30,622,001 (GRCm39)	F63L	possibly damaging	Het
Hmga2	T	C	10: 120,309,159 (GRCm39)	K66E	probably damaging	Het
Hspa1a	T	C	17: 35,190,019 (GRCm39)	T295A	probably benign	Het
Ift74	G	A	4: 94,510,128 (GRCm39)	G53D	probably damaging	Het
Ighv6-7	T	C	12: 114,419,703 (GRCm39)	M1V	probably null	Het
Ints4	T	A	7: 97,183,593 (GRCm39)	D769E	probably benign	Het
Kif7	G	A	7: 79,360,005 (GRCm39)	R411C	probably damaging	Het
Klhl30	T	A	1: 91,287,174 (GRCm39)	Y487N	probably damaging	Het
Kras	T	C	6: 145,170,853 (GRCm39)	E174G	probably benign	Het
Krt84	T	C	15: 101,437,183 (GRCm39)	I327V	probably benign	Het
Lamb3	T	A	1: 193,014,525 (GRCm39)	C561*	probably null	Het
Lmbrd1	A	G	1: 24,767,407 (GRCm39)		probably benign	Het
Lmnb1	T	A	18: 56,876,331 (GRCm39)	S480T	probably benign	Het
Lrp2	C	T	2: 69,341,348 (GRCm39)	G944D	probably damaging	Het
Mta3	G	A	17: 84,083,146 (GRCm39)	E280K	probably damaging	Het
Muc5b	A	T	7: 141,421,115 (GRCm39)	I4236F		Het
Myh9	T	C	15: 77,655,432 (GRCm39)	T1175A	probably benign	Het
Myt1l	T	A	12: 29,861,564 (GRCm39)	D115E	unknown	Het
Naa25	A	G	5: 121,552,573 (GRCm39)	N167D	probably benign	Het
Ncam1	G	A	9: 49,431,493 (GRCm39)	P648L	probably damaging	Het
Or2t26	T	C	11: 49,039,266 (GRCm39)	Y61H	probably damaging	Het
Or2t44	A	T	11: 58,677,519 (GRCm39)	D153V	probably damaging	Het
P3h3	G	T	6: 124,832,196 (GRCm39)	A230E	possibly damaging	Het
Pacs2	A	G	12: 113,020,476 (GRCm39)	E253G	probably damaging	Het
Pbld1	A	T	10: 62,901,648 (GRCm39)	D57V	probably benign	Het
Pcsk5	T	C	19: 17,452,275 (GRCm39)	T1077A	probably damaging	Het
Pou4f2	T	A	8: 79,161,932 (GRCm39)	M224L		Het
Ppcdc	C	T	9: 57,342,265 (GRCm39)	R19H	probably benign	Het
Ppp1r10	T	A	17: 36,241,018 (GRCm39)	M640K	probably benign	Het
Prdx6	A	T	1: 161,069,432 (GRCm39)		probably benign	Het
Rab40b	A	G	11: 121,250,384 (GRCm39)		probably null	Het
Rassf9	T	A	10: 102,381,329 (GRCm39)	M237K	probably benign	Het
Rbbp8nl	G	T	2: 179,919,769 (GRCm39)	Y604*	probably null	Het
Reep2	G	T	18: 34,975,929 (GRCm39)	W42L	possibly damaging	Het
Serpinb6e	A	T	13: 34,017,261 (GRCm39)	M253K	probably damaging	Het
Shank2	A	G	7: 143,623,927 (GRCm39)	Q304R	probably damaging	Het
Slk	T	C	19: 47,600,057 (GRCm39)	M120T	probably damaging	Het
Spata31e5	T	C	1: 28,816,155 (GRCm39)	I626V	probably benign	Het
Sphkap	T	A	1: 83,256,927 (GRCm39)	H274L	probably benign	Het
Stc1	T	G	14: 69,269,884 (GRCm39)	F155V	possibly damaging	Het
Tbc1d12	A	G	19: 38,899,510 (GRCm39)	T477A	probably damaging	Het
Tmem19	T	A	10: 115,183,671 (GRCm39)	I54F	possibly damaging	Het
Tmem62	G	A	2: 120,817,316 (GRCm39)		probably null	Het
Ttc6	A	T	12: 57,689,826 (GRCm39)	R505S		Het
Ttn	G	T	2: 76,623,184 (GRCm39)	R15418S	probably damaging	Het
Ugt2a3	C	A	5: 87,473,417 (GRCm39)	C500F	possibly damaging	Het
Ugt2b35	T	C	5: 87,149,310 (GRCm39)	F187S	probably benign	Het
Ung	T	A	5: 114,269,456 (GRCm39)	I56N	probably damaging	Het
Vmn1r17	G	T	6: 57,338,142 (GRCm39)	F25L	probably benign	Het
Vmn1r29	C	A	6: 58,284,274 (GRCm39)		probably benign	Het
Vps26c	T	A	16: 94,302,481 (GRCm39)	I242F	probably benign	Het
Wdhd1	T	C	14: 47,504,470 (GRCm39)	D368G	probably benign	Het
Wdr3	A	T	3: 100,057,259 (GRCm39)	I448N	probably damaging	Het
Wdr47	T	A	3: 108,550,480 (GRCm39)	M835K	possibly damaging	Het
Wt1	G	A	2: 104,957,584 (GRCm39)	G10D	possibly damaging	Het
Zdhhc19	G	A	16: 32,316,500 (GRCm39)	G85D	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
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
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'- TAATCAAGCCCCTAGGGTGG -3'
(R):5'- TCTCTCCTCTGGCACAATGG -3'

Sequencing Primer
(F):5'- GAGTTGCCTTACATAGAAGGCACC -3'
(R):5'- TCTGGCACAATGGCCTTG -3'

Posted On

2021-08-31