Mutagenetix > Incidental Mutation

Incidental Mutation 'R5931:C4b'

461879

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

MMRRC Submission

044126-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34729193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1644 (V1644A)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

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

AlphaFold

P01029

Predicted Effect

probably damaging
Transcript: ENSMUST00000069507
AA Change: V1644A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: V1644A

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: ENSMUST00000173669

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,814,189 (GRCm38)	T2M	probably damaging	Het
4930590J08Rik	A	T	6: 91,919,115 (GRCm38)	R315W	probably damaging	Het
Atrn	A	T	2: 130,933,436 (GRCm38)	Y153F	possibly damaging	Het
Carmil3	A	C	14: 55,498,940 (GRCm38)	K654T	probably damaging	Het
Cdh1	T	C	8: 106,666,332 (GRCm38)		probably null	Het
Chrna1	C	T	2: 73,568,100 (GRCm38)	V332M	probably benign	Het
Clca2	A	C	3: 145,092,125 (GRCm38)	V193G	possibly damaging	Het
Cyld	A	G	8: 88,729,842 (GRCm38)		probably null	Het
Dbt	A	T	3: 116,523,425 (GRCm38)	E83D	possibly damaging	Het
Deup1	T	C	9: 15,561,322 (GRCm38)	R471G	possibly damaging	Het
Dgcr2	T	A	16: 17,857,309 (GRCm38)	I188F	possibly damaging	Het
Dgkg	G	A	16: 22,558,038 (GRCm38)	R524*	probably null	Het
Dnah5	A	T	15: 28,453,279 (GRCm38)	R4399W	probably damaging	Het
Egflam	G	A	15: 7,243,857 (GRCm38)	T579I	possibly damaging	Het
Eif2b2	C	T	12: 85,222,787 (GRCm38)	T211I	probably damaging	Het
Ep400	A	G	5: 110,735,520 (GRCm38)		probably benign	Het
Ermp1	C	G	19: 29,615,729 (GRCm38)	A788P	probably benign	Het
Ern1	A	G	11: 106,426,873 (GRCm38)	S142P	possibly damaging	Het
Fbxo15	T	A	18: 84,981,125 (GRCm38)	C351S	probably damaging	Het
Fndc3a	A	T	14: 72,568,867 (GRCm38)	S444T	probably benign	Het
Gabra6	G	A	11: 42,307,441 (GRCm38)	T384M	probably benign	Het
Gm6169	A	G	13: 97,099,197 (GRCm38)	L14S	probably benign	Het
Gpbp1l1	T	C	4: 116,590,260 (GRCm38)	V379A	probably benign	Het
Hook2	G	T	8: 84,995,746 (GRCm38)	E305*	probably null	Het
Hoxa3	G	A	6: 52,172,588 (GRCm38)	A21V	probably damaging	Het
Hs1bp3	C	A	12: 8,341,915 (GRCm38)	P339Q	probably benign	Het
Igha	T	A	12: 113,260,090 (GRCm38)	T49S	probably benign	Het
Klra4	C	T	6: 130,053,053 (GRCm38)	V190M	possibly damaging	Het
Lats2	A	G	14: 57,696,131 (GRCm38)	L843P	probably damaging	Het
Lcmt1	A	G	7: 123,421,616 (GRCm38)	T255A	probably benign	Het
Lpar6	A	G	14: 73,238,928 (GRCm38)	I110V	probably damaging	Het
Lrrtm4	A	G	6: 80,021,739 (GRCm38)	I44V	probably damaging	Het
Mcm3ap	T	C	10: 76,471,166 (GRCm38)	V371A	probably benign	Het
Muc20	A	T	16: 32,794,574 (GRCm38)	D144E	possibly damaging	Het
Nphp3	T	A	9: 104,020,746 (GRCm38)	D417E	probably damaging	Het
Olfr853	A	T	9: 19,537,333 (GRCm38)	I199K	probably benign	Het
Olfr889	A	G	9: 38,116,374 (GRCm38)	I193V	probably benign	Het
Paqr7	A	C	4: 134,507,720 (GRCm38)	Y296S	probably damaging	Het
Pcdha4	A	T	18: 36,954,755 (GRCm38)	T664S	probably damaging	Het
Pelo	T	A	13: 115,088,843 (GRCm38)	Y282F	probably benign	Het
Plxna2	A	T	1: 194,810,870 (GRCm38)	I1818F	probably damaging	Het
Pnkd	A	G	1: 74,350,674 (GRCm38)	D319G	probably benign	Het
Pnmal1	C	A	7: 16,960,884 (GRCm38)	N221K	probably benign	Het
Ppp1cb	T	A	5: 32,483,466 (GRCm38)		probably null	Het
Prkca	T	G	11: 108,014,310 (GRCm38)	I201L	probably benign	Het
Rfx2	G	A	17: 56,780,778 (GRCm38)	R538C	probably damaging	Het
Rph3a	T	C	5: 120,963,873 (GRCm38)	Q100R	probably damaging	Het
Rtel1	C	T	2: 181,330,815 (GRCm38)	R29*	probably null	Het
Scel	T	A	14: 103,605,624 (GRCm38)	Y547*	probably null	Het
Sp100	C	T	1: 85,679,083 (GRCm38)	P303L	probably damaging	Het
Stk31	A	G	6: 49,469,302 (GRCm38)	S958G	probably benign	Het
Syne2	T	A	12: 76,008,865 (GRCm38)	V4168E	probably benign	Het
Tenm3	A	T	8: 48,646,498 (GRCm38)	S91T	probably benign	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755 (GRCm38)		probably benign	Het
Tmem248	T	A	5: 130,229,508 (GRCm38)	I14N	probably damaging	Het
Tor3a	T	C	1: 156,656,487 (GRCm38)	I298V	probably benign	Het
Trim69	A	T	2: 122,178,594 (GRCm38)	K378N	probably damaging	Het
Ttc28	C	T	5: 111,085,109 (GRCm38)	P151S	possibly damaging	Het
Uaca	T	C	9: 60,872,012 (GRCm38)	V1225A	probably damaging	Het
Vps4b	T	C	1: 106,777,335 (GRCm38)	I343V	probably benign	Het
Wnk4	A	G	11: 101,261,221 (GRCm38)	T184A	probably damaging	Het
Ythdc2	T	A	18: 44,872,956 (GRCm38)	I1172K	possibly damaging	Het

Other mutations in C4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:C4b	APN	17	34,734,428 (GRCm38)	missense	probably damaging	1.00
IGL00433:C4b	APN	17	34,742,041 (GRCm38)	missense	possibly damaging	0.75
IGL00471:C4b	APN	17	34,734,429 (GRCm38)	missense	probably damaging	1.00
IGL00515:C4b	APN	17	34,728,891 (GRCm38)	missense	probably damaging	1.00
IGL01599:C4b	APN	17	34,743,019 (GRCm38)	splice site	probably benign
IGL01761:C4b	APN	17	34,739,938 (GRCm38)	missense	possibly damaging	0.56
IGL02004:C4b	APN	17	34,739,010 (GRCm38)	unclassified	probably benign
IGL02215:C4b	APN	17	34,734,491 (GRCm38)	missense	probably damaging	1.00
IGL02517:C4b	APN	17	34,734,408 (GRCm38)	missense	probably benign	0.01
IGL02926:C4b	APN	17	34,730,712 (GRCm38)	missense	possibly damaging	0.95
IGL03031:C4b	APN	17	34,731,130 (GRCm38)	missense	possibly damaging	0.47
IGL03057:C4b	APN	17	34,737,764 (GRCm38)	unclassified	probably benign
IGL03165:C4b	APN	17	34,739,955 (GRCm38)	missense	probably benign	0.13
IGL03380:C4b	APN	17	34,740,286 (GRCm38)	missense	probably benign	0.01
Aspiration	UTSW	17	34,734,442 (GRCm38)	missense	probably benign	0.00
Inspiration	UTSW	17	34,732,166 (GRCm38)	splice site	probably null
Peroration	UTSW	17	34,729,399 (GRCm38)	critical splice donor site	probably null
perspiration	UTSW	17	34,729,831 (GRCm38)	missense	probably damaging	1.00
FR4548:C4b	UTSW	17	34,740,997 (GRCm38)	missense	probably benign	0.00
PIT4142001:C4b	UTSW	17	34,733,701 (GRCm38)	missense	probably benign	0.01
R0064:C4b	UTSW	17	34,738,856 (GRCm38)	missense	probably damaging	1.00
R0113:C4b	UTSW	17	34,741,240 (GRCm38)	missense	probably damaging	0.98
R0143:C4b	UTSW	17	34,734,219 (GRCm38)	unclassified	probably benign
R0254:C4b	UTSW	17	34,734,776 (GRCm38)	missense	probably benign	0.00
R0320:C4b	UTSW	17	34,733,161 (GRCm38)	missense	probably benign	0.01
R0391:C4b	UTSW	17	34,735,614 (GRCm38)	splice site	probably benign
R0399:C4b	UTSW	17	34,728,869 (GRCm38)	missense	probably damaging	1.00
R0467:C4b	UTSW	17	34,736,127 (GRCm38)	missense	probably benign	0.01
R0549:C4b	UTSW	17	34,735,415 (GRCm38)	missense	probably damaging	1.00
R0561:C4b	UTSW	17	34,734,417 (GRCm38)	missense	probably damaging	0.99
R0662:C4b	UTSW	17	34,730,888 (GRCm38)	missense	probably damaging	1.00
R0941:C4b	UTSW	17	34,740,055 (GRCm38)	missense	probably benign
R1161:C4b	UTSW	17	34,729,593 (GRCm38)	missense	probably damaging	1.00
R1169:C4b	UTSW	17	34,742,972 (GRCm38)	missense	probably benign	0.14
R1186:C4b	UTSW	17	34,736,309 (GRCm38)	missense	possibly damaging	0.47
R1310:C4b	UTSW	17	34,729,593 (GRCm38)	missense	probably damaging	1.00
R1398:C4b	UTSW	17	34,730,719 (GRCm38)	unclassified	probably benign
R1472:C4b	UTSW	17	34,743,769 (GRCm38)	nonsense	probably null
R1496:C4b	UTSW	17	34,740,021 (GRCm38)	missense	probably benign	0.30
R1544:C4b	UTSW	17	34,738,967 (GRCm38)	missense	probably benign	0.13
R1588:C4b	UTSW	17	34,741,025 (GRCm38)	missense	probably benign
R1645:C4b	UTSW	17	34,740,597 (GRCm38)	missense	probably damaging	1.00
R1664:C4b	UTSW	17	34,732,978 (GRCm38)	missense	probably damaging	1.00
R1678:C4b	UTSW	17	34,743,650 (GRCm38)	missense	probably benign	0.05
R1710:C4b	UTSW	17	34,743,664 (GRCm38)	splice site	probably benign
R1713:C4b	UTSW	17	34,729,271 (GRCm38)	splice site	probably benign
R1770:C4b	UTSW	17	34,736,927 (GRCm38)	missense	possibly damaging	0.78
R1859:C4b	UTSW	17	34,735,553 (GRCm38)	missense	probably benign
R1924:C4b	UTSW	17	34,729,657 (GRCm38)	missense	probably damaging	1.00
R2057:C4b	UTSW	17	34,728,620 (GRCm38)	missense	probably damaging	1.00
R2060:C4b	UTSW	17	34,736,101 (GRCm38)	missense	probably damaging	1.00
R2184:C4b	UTSW	17	34,737,702 (GRCm38)	missense	probably benign	0.27
R2306:C4b	UTSW	17	34,728,518 (GRCm38)	missense	probably benign	0.00
R2363:C4b	UTSW	17	34,736,058 (GRCm38)	splice site	probably benign
R2365:C4b	UTSW	17	34,736,058 (GRCm38)	splice site	probably benign
R2379:C4b	UTSW	17	34,735,743 (GRCm38)	missense	possibly damaging	0.81
R2860:C4b	UTSW	17	34,734,758 (GRCm38)	missense	probably damaging	0.99
R2861:C4b	UTSW	17	34,734,758 (GRCm38)	missense	probably damaging	0.99
R3551:C4b	UTSW	17	34,741,872 (GRCm38)	missense	possibly damaging	0.75
R3765:C4b	UTSW	17	34,729,840 (GRCm38)	missense	probably damaging	0.98
R4157:C4b	UTSW	17	34,742,855 (GRCm38)	missense	probably damaging	1.00
R4299:C4b	UTSW	17	34,731,144 (GRCm38)	missense	possibly damaging	0.52
R4365:C4b	UTSW	17	34,734,743 (GRCm38)	missense	possibly damaging	0.65
R4411:C4b	UTSW	17	34,728,864 (GRCm38)	missense	probably damaging	1.00
R4613:C4b	UTSW	17	34,734,551 (GRCm38)	missense	probably benign	0.12
R4784:C4b	UTSW	17	34,733,406 (GRCm38)	missense	probably benign	0.00
R4790:C4b	UTSW	17	34,734,143 (GRCm38)	missense	probably benign	0.01
R4831:C4b	UTSW	17	34,736,890 (GRCm38)	splice site	probably null
R4879:C4b	UTSW	17	34,743,647 (GRCm38)	missense	probably damaging	0.99
R5036:C4b	UTSW	17	34,740,445 (GRCm38)	critical splice acceptor site	probably null
R5361:C4b	UTSW	17	34,741,238 (GRCm38)	missense	probably benign	0.15
R5384:C4b	UTSW	17	34,737,661 (GRCm38)	missense	possibly damaging	0.89
R5518:C4b	UTSW	17	34,734,442 (GRCm38)	missense	probably benign	0.00
R5590:C4b	UTSW	17	34,740,335 (GRCm38)	missense	probably damaging	0.98
R5643:C4b	UTSW	17	34,742,417 (GRCm38)	missense	probably benign	0.01
R5644:C4b	UTSW	17	34,742,417 (GRCm38)	missense	probably benign	0.01
R5833:C4b	UTSW	17	34,730,673 (GRCm38)	missense	probably damaging	1.00
R6178:C4b	UTSW	17	34,733,406 (GRCm38)	missense	probably benign	0.00
R6209:C4b	UTSW	17	34,741,087 (GRCm38)	missense	possibly damaging	0.93
R6225:C4b	UTSW	17	34,738,874 (GRCm38)	missense	possibly damaging	0.64
R6518:C4b	UTSW	17	34,734,205 (GRCm38)	missense	probably damaging	0.98
R6613:C4b	UTSW	17	34,733,565 (GRCm38)	missense	probably damaging	0.99
R6781:C4b	UTSW	17	34,742,954 (GRCm38)	missense	probably damaging	0.99
R6807:C4b	UTSW	17	34,730,956 (GRCm38)	missense	probably benign	0.17
R6858:C4b	UTSW	17	34,729,831 (GRCm38)	missense	probably damaging	1.00
R6962:C4b	UTSW	17	34,732,166 (GRCm38)	splice site	probably null
R7068:C4b	UTSW	17	34,733,477 (GRCm38)	missense	probably damaging	1.00
R7081:C4b	UTSW	17	34,735,443 (GRCm38)	missense	probably benign	0.27
R7105:C4b	UTSW	17	34,730,911 (GRCm38)	missense	possibly damaging	0.52
R7211:C4b	UTSW	17	34,735,534 (GRCm38)	missense	possibly damaging	0.92
R7296:C4b	UTSW	17	34,743,659 (GRCm38)	missense	probably damaging	1.00
R7314:C4b	UTSW	17	34,740,356 (GRCm38)	missense	probably benign
R7330:C4b	UTSW	17	34,730,472 (GRCm38)	missense	probably damaging	1.00
R7397:C4b	UTSW	17	34,742,390 (GRCm38)	missense	possibly damaging	0.80
R7437:C4b	UTSW	17	34,734,733 (GRCm38)	missense	probably benign	0.10
R7490:C4b	UTSW	17	34,731,080 (GRCm38)	nonsense	probably null
R7597:C4b	UTSW	17	34,739,675 (GRCm38)	missense	probably benign
R7633:C4b	UTSW	17	34,729,399 (GRCm38)	critical splice donor site	probably null
R7900:C4b	UTSW	17	34,739,777 (GRCm38)	missense	probably benign	0.03
R7910:C4b	UTSW	17	34,740,352 (GRCm38)	missense	probably benign	0.00
R7923:C4b	UTSW	17	34,742,380 (GRCm38)	missense	probably damaging	1.00
R7960:C4b	UTSW	17	34,741,278 (GRCm38)	splice site	probably null
R8420:C4b	UTSW	17	34,734,539 (GRCm38)	missense	probably damaging	0.97
R8467:C4b	UTSW	17	34,732,813 (GRCm38)	missense	possibly damaging	0.51
R8558:C4b	UTSW	17	34,736,567 (GRCm38)	missense	probably damaging	1.00
R8725:C4b	UTSW	17	34,734,485 (GRCm38)	missense	probably damaging	1.00
R8727:C4b	UTSW	17	34,734,485 (GRCm38)	missense	probably damaging	1.00
R8853:C4b	UTSW	17	34,729,905 (GRCm38)	missense	possibly damaging	0.91
R8934:C4b	UTSW	17	34,732,984 (GRCm38)	missense	possibly damaging	0.78
R8944:C4b	UTSW	17	34,742,939 (GRCm38)	missense	probably benign	0.00
R8960:C4b	UTSW	17	34,733,918 (GRCm38)	missense	probably damaging	1.00
R8982:C4b	UTSW	17	34,734,364 (GRCm38)	critical splice donor site	probably null
R9104:C4b	UTSW	17	34,729,259 (GRCm38)	missense	probably benign	0.39
R9114:C4b	UTSW	17	34,729,430 (GRCm38)	missense	probably damaging	0.99
R9348:C4b	UTSW	17	34,733,185 (GRCm38)	missense	probably benign	0.01
R9428:C4b	UTSW	17	34,730,911 (GRCm38)	missense	possibly damaging	0.52
R9533:C4b	UTSW	17	34,737,724 (GRCm38)	nonsense	probably null
R9591:C4b	UTSW	17	34,738,955 (GRCm38)	missense	probably benign	0.00
R9678:C4b	UTSW	17	34,741,789 (GRCm38)	critical splice donor site	probably null
Z1176:C4b	UTSW	17	34,731,147 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCAAGCCCAGGTTCCTAATG -3'
(R):5'- GCTATTATCCCCGAGTGGAGTATG -3'

Sequencing Primer
(F):5'- TTCCTAATGAACAGGGGCTG -3'
(R):5'- AGTGGAGTATGGTCAGTCCCTCC -3'

Posted On

2017-02-28