Mutagenetix > Incidental Mutation

Incidental Mutation 'R7923:C4b'

648578

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

MMRRC Submission

045970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7923 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34742380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 202 (I202F)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably damaging
Transcript: ENSMUST00000069507
AA Change: I202F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: I202F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 72,444,911	T54M	probably damaging	Het
4932443I19Rik	A	C	8: 13,738,456	H140P	unknown	Het
Aacs	T	A	5: 125,511,884	S409T	probably damaging	Het
Atf6	T	C	1: 170,794,706	M449V	probably benign	Het
B4galt1	C	T	4: 40,809,373	G332S	probably benign	Het
Bcl11a	G	T	11: 24,163,680	R341M	probably damaging	Het
Brf2	G	A	8: 27,124,190	Q323*	probably null	Het
Bscl2	T	C	19: 8,847,519	V322A	probably benign	Het
Btnl9	T	C	11: 49,180,738	Y86C	probably damaging	Het
Cbfb	T	A	8: 105,194,593		probably null	Het
Cc2d2b	T	A	19: 40,806,849	Y963N	possibly damaging	Het
Cep135	A	T	5: 76,609,692	D391V	possibly damaging	Het
Col12a1	A	G	9: 79,678,493	V1228A	probably benign	Het
Cr2	T	A	1: 195,168,687	Y157F	probably benign	Het
Creg2	C	T	1: 39,650,903	G13E	probably benign	Het
Cul5	G	T	9: 53,624,166	A595E	probably benign	Het
Cyp4f16	A	G	17: 32,546,747	E368G	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Eps15	G	A	4: 109,315,872	D177N	possibly damaging	Het
Erbb4	C	T	1: 68,259,209	R684H	probably damaging	Het
Ermp1	C	T	19: 29,628,658	V419I	probably benign	Het
Foxi3	T	C	6: 70,960,716	S311P	probably benign	Het
Fras1	C	T	5: 96,739,318	A2653V	probably damaging	Het
Gbp3	A	T	3: 142,567,612	N307Y	probably damaging	Het
Ggcx	G	A	6: 72,427,917	R436Q	probably damaging	Het
Gimap3	A	T	6: 48,765,627	V123D	probably benign	Het
Gm14326	A	T	2: 177,945,887	Y439N	probably damaging	Het
Gm4756	G	T	12: 72,619,358	Q180K	probably benign	Het
Gm5591	A	G	7: 38,521,914	S244P	probably benign	Het
Gm9507	A	T	10: 77,811,537	C103S	unknown	Het
Guf1	G	A	5: 69,561,159	V214I	probably benign	Het
Ido2	T	C	8: 24,576,193	Y19C	probably damaging	Het
Idua	T	C	5: 108,680,583	S268P	probably damaging	Het
Igf1r	T	C	7: 68,190,101	Y719H	probably damaging	Het
Itgb4	A	T	11: 115,982,699		probably null	Het
Kctd19	T	A	8: 105,385,058	T868S	probably damaging	Het
Lonrf2	A	T	1: 38,800,762	H417Q	probably benign	Het
Lrp2	T	C	2: 69,438,388	T4184A	possibly damaging	Het
Mapk15	T	C	15: 75,996,446	F219S	probably damaging	Het
Myh7b	A	T	2: 155,625,966	Y808F	probably benign	Het
Myo19	T	G	11: 84,885,710	F64C	possibly damaging	Het
Mysm1	A	T	4: 94,961,765	V434D	probably damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nbeal2	A	T	9: 110,631,446	Y1780*	probably null	Het
Ndc80	A	T	17: 71,496,301	M615K	probably benign	Het
Nfkbib	C	A	7: 28,766,263	V54F	probably damaging	Het
Npy5r	A	G	8: 66,681,752	F130L	probably damaging	Het
Nt5c3	T	C	6: 56,883,042	E304G	probably benign	Het
Odaph	A	G	5: 91,994,699	D40G	possibly damaging	Het
Olfr1389	C	T	11: 49,430,605	T43I	probably benign	Het
Olfr1469	T	C	19: 13,410,818	M83T	probably benign	Het
Olfr695	T	A	7: 106,714,442	K80*	probably null	Het
Olfr974	A	T	9: 39,942,967	K236*	probably null	Het
Palm3	T	A	8: 84,029,461	I534K	probably benign	Het
Pde10a	A	G	17: 8,929,132	N89S	probably benign	Het
Piezo1	T	C	8: 122,496,444	K870E		Het
Pik3c2g	T	C	6: 139,633,793		probably null	Het
Pnpla6	T	A	8: 3,531,737	Y662*	probably null	Het
Proser3	A	T	7: 30,549,661	F2Y	possibly damaging	Het
Psma5	A	G	3: 108,265,129	I54V	probably benign	Het
Qrich2	C	A	11: 116,457,337	G887V	probably damaging	Het
Rdx	A	G	9: 52,065,901	D150G	possibly damaging	Het
Reln	C	T	5: 22,134,692	V221I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Samd14	A	G	11: 95,023,458		probably null	Het
Scimp	A	T	11: 70,791,515	I125N	possibly damaging	Het
Sec23a	A	G	12: 58,992,247	F289L	probably damaging	Het
Sipa1l3	G	A	7: 29,339,146	Q1408*	probably null	Het
Skor2	T	C	18: 76,858,721	L46P	unknown	Het
Slc12a1	A	T	2: 125,214,092	I848F	possibly damaging	Het
Slc47a1	A	G	11: 61,363,403	L211P	probably damaging	Het
Slc7a10	T	C	7: 35,195,129	V71A	probably damaging	Het
Smco1	C	A	16: 32,274,047	Q179K	possibly damaging	Het
Smg1	A	G	7: 118,143,322	L3223P	possibly damaging	Het
Smpdl3a	T	C	10: 57,801,045	S80P	probably damaging	Het
Spire2	A	G	8: 123,332,987	R75G	probably benign	Het
Sptbn2	T	A	19: 4,746,799	H1808Q	probably benign	Het
Srgap2	T	C	1: 131,300,413	E720G	possibly damaging	Het
Ssfa2	G	T	2: 79,662,615	E1169*	probably null	Het
Supv3l1	T	C	10: 62,445,081	D177G	probably damaging	Het
Syne1	C	T	10: 5,264,738	E3215K	probably damaging	Het
Szt2	A	G	4: 118,373,840	V2548A	unknown	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Washc2	A	G	6: 116,226,424	E384G	possibly damaging	Het
Zfp712	T	A	13: 67,042,185	N93Y	probably benign	Het

Other mutations in C4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:C4b	APN	17	34734428	missense	probably damaging	1.00
IGL00433:C4b	APN	17	34742041	missense	possibly damaging	0.75
IGL00471:C4b	APN	17	34734429	missense	probably damaging	1.00
IGL00515:C4b	APN	17	34728891	missense	probably damaging	1.00
IGL01599:C4b	APN	17	34743019	splice site	probably benign
IGL01761:C4b	APN	17	34739938	missense	possibly damaging	0.56
IGL02004:C4b	APN	17	34739010	unclassified	probably benign
IGL02215:C4b	APN	17	34734491	missense	probably damaging	1.00
IGL02517:C4b	APN	17	34734408	missense	probably benign	0.01
IGL02926:C4b	APN	17	34730712	missense	possibly damaging	0.95
IGL03031:C4b	APN	17	34731130	missense	possibly damaging	0.47
IGL03057:C4b	APN	17	34737764	unclassified	probably benign
IGL03165:C4b	APN	17	34739955	missense	probably benign	0.13
IGL03380:C4b	APN	17	34740286	missense	probably benign	0.01
Aspiration	UTSW	17	34734442	missense	probably benign	0.00
Inspiration	UTSW	17	34732166	splice site	probably null
Peroration	UTSW	17	34729399	critical splice donor site	probably null
perspiration	UTSW	17	34729831	missense	probably damaging	1.00
FR4548:C4b	UTSW	17	34740997	missense	probably benign	0.00
PIT4142001:C4b	UTSW	17	34733701	missense	probably benign	0.01
R0064:C4b	UTSW	17	34738856	missense	probably damaging	1.00
R0113:C4b	UTSW	17	34741240	missense	probably damaging	0.98
R0143:C4b	UTSW	17	34734219	unclassified	probably benign
R0254:C4b	UTSW	17	34734776	missense	probably benign	0.00
R0320:C4b	UTSW	17	34733161	missense	probably benign	0.01
R0391:C4b	UTSW	17	34735614	splice site	probably benign
R0399:C4b	UTSW	17	34728869	missense	probably damaging	1.00
R0467:C4b	UTSW	17	34736127	missense	probably benign	0.01
R0549:C4b	UTSW	17	34735415	missense	probably damaging	1.00
R0561:C4b	UTSW	17	34734417	missense	probably damaging	0.99
R0662:C4b	UTSW	17	34730888	missense	probably damaging	1.00
R0941:C4b	UTSW	17	34740055	missense	probably benign
R1161:C4b	UTSW	17	34729593	missense	probably damaging	1.00
R1169:C4b	UTSW	17	34742972	missense	probably benign	0.14
R1186:C4b	UTSW	17	34736309	missense	possibly damaging	0.47
R1310:C4b	UTSW	17	34729593	missense	probably damaging	1.00
R1398:C4b	UTSW	17	34730719	unclassified	probably benign
R1472:C4b	UTSW	17	34743769	nonsense	probably null
R1496:C4b	UTSW	17	34740021	missense	probably benign	0.30
R1544:C4b	UTSW	17	34738967	missense	probably benign	0.13
R1588:C4b	UTSW	17	34741025	missense	probably benign
R1645:C4b	UTSW	17	34740597	missense	probably damaging	1.00
R1664:C4b	UTSW	17	34732978	missense	probably damaging	1.00
R1678:C4b	UTSW	17	34743650	missense	probably benign	0.05
R1710:C4b	UTSW	17	34743664	splice site	probably benign
R1713:C4b	UTSW	17	34729271	splice site	probably benign
R1770:C4b	UTSW	17	34736927	missense	possibly damaging	0.78
R1859:C4b	UTSW	17	34735553	missense	probably benign
R1924:C4b	UTSW	17	34729657	missense	probably damaging	1.00
R2057:C4b	UTSW	17	34728620	missense	probably damaging	1.00
R2060:C4b	UTSW	17	34736101	missense	probably damaging	1.00
R2184:C4b	UTSW	17	34737702	missense	probably benign	0.27
R2306:C4b	UTSW	17	34728518	missense	probably benign	0.00
R2363:C4b	UTSW	17	34736058	splice site	probably benign
R2365:C4b	UTSW	17	34736058	splice site	probably benign
R2379:C4b	UTSW	17	34735743	missense	possibly damaging	0.81
R2860:C4b	UTSW	17	34734758	missense	probably damaging	0.99
R2861:C4b	UTSW	17	34734758	missense	probably damaging	0.99
R3551:C4b	UTSW	17	34741872	missense	possibly damaging	0.75
R3765:C4b	UTSW	17	34729840	missense	probably damaging	0.98
R4157:C4b	UTSW	17	34742855	missense	probably damaging	1.00
R4299:C4b	UTSW	17	34731144	missense	possibly damaging	0.52
R4365:C4b	UTSW	17	34734743	missense	possibly damaging	0.65
R4411:C4b	UTSW	17	34728864	missense	probably damaging	1.00
R4613:C4b	UTSW	17	34734551	missense	probably benign	0.12
R4784:C4b	UTSW	17	34733406	missense	probably benign	0.00
R4790:C4b	UTSW	17	34734143	missense	probably benign	0.01
R4831:C4b	UTSW	17	34736890	splice site	probably null
R4879:C4b	UTSW	17	34743647	missense	probably damaging	0.99
R5036:C4b	UTSW	17	34740445	critical splice acceptor site	probably null
R5361:C4b	UTSW	17	34741238	missense	probably benign	0.15
R5384:C4b	UTSW	17	34737661	missense	possibly damaging	0.89
R5518:C4b	UTSW	17	34734442	missense	probably benign	0.00
R5590:C4b	UTSW	17	34740335	missense	probably damaging	0.98
R5643:C4b	UTSW	17	34742417	missense	probably benign	0.01
R5644:C4b	UTSW	17	34742417	missense	probably benign	0.01
R5833:C4b	UTSW	17	34730673	missense	probably damaging	1.00
R5931:C4b	UTSW	17	34729193	missense	probably damaging	0.99
R6178:C4b	UTSW	17	34733406	missense	probably benign	0.00
R6209:C4b	UTSW	17	34741087	missense	possibly damaging	0.93
R6225:C4b	UTSW	17	34738874	missense	possibly damaging	0.64
R6518:C4b	UTSW	17	34734205	missense	probably damaging	0.98
R6613:C4b	UTSW	17	34733565	missense	probably damaging	0.99
R6781:C4b	UTSW	17	34742954	missense	probably damaging	0.99
R6807:C4b	UTSW	17	34730956	missense	probably benign	0.17
R6858:C4b	UTSW	17	34729831	missense	probably damaging	1.00
R6962:C4b	UTSW	17	34732166	splice site	probably null
R7068:C4b	UTSW	17	34733477	missense	probably damaging	1.00
R7081:C4b	UTSW	17	34735443	missense	probably benign	0.27
R7105:C4b	UTSW	17	34730911	missense	possibly damaging	0.52
R7211:C4b	UTSW	17	34735534	missense	possibly damaging	0.92
R7296:C4b	UTSW	17	34743659	missense	probably damaging	1.00
R7314:C4b	UTSW	17	34740356	missense	probably benign
R7330:C4b	UTSW	17	34730472	missense	probably damaging	1.00
R7397:C4b	UTSW	17	34742390	missense	possibly damaging	0.80
R7437:C4b	UTSW	17	34734733	missense	probably benign	0.10
R7490:C4b	UTSW	17	34731080	nonsense	probably null
R7597:C4b	UTSW	17	34739675	missense	probably benign
R7633:C4b	UTSW	17	34729399	critical splice donor site	probably null
R7900:C4b	UTSW	17	34739777	missense	probably benign	0.03
R7910:C4b	UTSW	17	34740352	missense	probably benign	0.00
R7960:C4b	UTSW	17	34741278	splice site	probably null
R8420:C4b	UTSW	17	34734539	missense	probably damaging	0.97
R8467:C4b	UTSW	17	34732813	missense	possibly damaging	0.51
R8558:C4b	UTSW	17	34736567	missense	probably damaging	1.00
R8725:C4b	UTSW	17	34734485	missense	probably damaging	1.00
R8727:C4b	UTSW	17	34734485	missense	probably damaging	1.00
R8853:C4b	UTSW	17	34729905	missense	possibly damaging	0.91
R8934:C4b	UTSW	17	34732984	missense	possibly damaging	0.78
R8944:C4b	UTSW	17	34742939	missense	probably benign	0.00
R8960:C4b	UTSW	17	34733918	missense	probably damaging	1.00
R8982:C4b	UTSW	17	34734364	critical splice donor site	probably null
R9104:C4b	UTSW	17	34729259	missense	probably benign	0.39
R9114:C4b	UTSW	17	34729430	missense	probably damaging	0.99
R9348:C4b	UTSW	17	34733185	missense	probably benign	0.01
R9428:C4b	UTSW	17	34730911	missense	possibly damaging	0.52
R9533:C4b	UTSW	17	34737724	nonsense	probably null
R9591:C4b	UTSW	17	34738955	missense	probably benign	0.00
R9678:C4b	UTSW	17	34741789	critical splice donor site	probably null
Z1176:C4b	UTSW	17	34731147	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GATTCCTCCAGAAGAAAGCTGTG -3'
(R):5'- TCGTTATCGGGTCTTTGCAC -3'

Sequencing Primer
(F):5'- TTCCTCCAGAAGAAAGCTGTGGTATG -3'
(R):5'- CTTTGCACTGGATCAAAAGATGCG -3'

Posted On

2020-09-15