Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02065:Apoh'

185620

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apoh

Ensembl Gene

ENSMUSG00000000049

Gene Name

apolipoprotein H

Synonyms

B2GPI, beta-2-glycoprotein 1, beta-2-GPI

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

IGL02065

Quality Score

Status

Chromosome

Chromosomal Location

108286123-108305222 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to A at 108305131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000049]

AlphaFold

Q01339

Predicted Effect

probably benign
Transcript: ENSMUST00000000049

SMART Domains

Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CCP	23	79	1.35e-7	SMART
CCP	84	137	2.53e-12	SMART
CCP	142	200	4.92e-10	SMART
CCP	205	260	1.98e-14	SMART
CCP	264	325	2.51e1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,827 (GRCm39)	E770K	possibly damaging	Het
Abhd17a	C	A	10: 80,422,395 (GRCm39)	A22S	probably benign	Het
Actbl2	A	G	13: 111,392,225 (GRCm39)	T187A	probably benign	Het
Adgrl3	G	A	5: 81,660,064 (GRCm39)	G278R	probably damaging	Het
Atp2b2	A	G	6: 113,790,828 (GRCm39)	F192S	probably damaging	Het
Bdh1	T	C	16: 31,268,754 (GRCm39)	I163T	possibly damaging	Het
Bmp1	G	T	14: 70,723,660 (GRCm39)	N725K	probably damaging	Het
Bmp1	T	A	14: 70,727,547 (GRCm39)	I679F	probably damaging	Het
Bmp2	T	A	2: 133,402,844 (GRCm39)	F132I	probably benign	Het
Bpifb5	T	C	2: 154,069,103 (GRCm39)	L140P	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil3	T	C	14: 55,731,279 (GRCm39)		probably benign	Het
Ccdc57	T	C	11: 120,764,586 (GRCm39)	T730A	possibly damaging	Het
Cdh10	G	T	15: 19,013,342 (GRCm39)	K647N	probably damaging	Het
Cdh17	A	C	4: 11,771,373 (GRCm39)		probably benign	Het
Cep126	A	G	9: 8,099,925 (GRCm39)	S870P	probably benign	Het
Col6a4	T	C	9: 105,954,302 (GRCm39)	T346A	probably damaging	Het
Csmd3	A	C	15: 47,530,024 (GRCm39)	V2592G	probably damaging	Het
Dnajc16	A	T	4: 141,504,244 (GRCm39)	F239I	probably damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
F5	G	A	1: 164,017,695 (GRCm39)	V591M	probably damaging	Het
Fchsd2	T	G	7: 100,826,429 (GRCm39)		probably null	Het
Flad1	A	T	3: 89,316,294 (GRCm39)	D89E	probably damaging	Het
Fsd1	C	A	17: 56,303,499 (GRCm39)	P457Q	probably damaging	Het
Gm21985	A	G	2: 112,187,929 (GRCm39)	D1012G	possibly damaging	Het
Gon4l	A	G	3: 88,764,517 (GRCm39)	D366G	probably null	Het
Hadha	A	G	5: 30,347,843 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,122,513 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,426,136 (GRCm39)	K24R	probably benign	Het
Map3k21	A	G	8: 126,668,397 (GRCm39)	D661G	probably benign	Het
Mical1	A	T	10: 41,360,407 (GRCm39)	K615N	possibly damaging	Het
Ncor1	T	C	11: 62,310,435 (GRCm39)	K204E	possibly damaging	Het
Nmral1	T	A	16: 4,534,346 (GRCm39)	I32F	probably benign	Het
Nrros	T	C	16: 31,963,492 (GRCm39)	D175G	possibly damaging	Het
Or10ak8	G	A	4: 118,773,968 (GRCm39)	T232I	probably benign	Het
Or12j5	T	C	7: 140,084,077 (GRCm39)	I98M	probably benign	Het
Ryr2	A	G	13: 11,587,143 (GRCm39)	F4713L	possibly damaging	Het
Serpinb1b	G	A	13: 33,275,301 (GRCm39)	G142D	possibly damaging	Het
Slc10a1	A	G	12: 81,007,248 (GRCm39)	S178P	possibly damaging	Het
Spint1	G	A	2: 119,068,698 (GRCm39)	R144H	probably benign	Het
Sult6b1	C	T	17: 79,196,504 (GRCm39)	G213R	probably damaging	Het
Themis3	G	T	17: 66,862,900 (GRCm39)	H353N	probably benign	Het
Tpr	T	C	1: 150,289,525 (GRCm39)	S619P	probably benign	Het
Ttn	A	T	2: 76,645,134 (GRCm39)	V11161E	probably damaging	Het
Usp13	G	A	3: 32,987,314 (GRCm39)	V837I	probably damaging	Het
Usp25	T	C	16: 76,880,670 (GRCm39)	V677A	probably benign	Het
Wdr62	A	G	7: 29,942,894 (GRCm39)	V1001A	possibly damaging	Het
Whrn	A	T	4: 63,336,822 (GRCm39)	I580N	possibly damaging	Het
Wls	T	A	3: 159,616,993 (GRCm39)	V344D	probably damaging	Het
Zan	A	T	5: 137,385,222 (GRCm39)	Y5070*	probably null	Het

Other mutations in Apoh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Apoh	APN	11	108,286,660 (GRCm39)	missense	probably benign	0.45
IGL01327:Apoh	APN	11	108,288,187 (GRCm39)	missense	probably damaging	1.00
IGL01353:Apoh	APN	11	108,288,211 (GRCm39)	missense	probably damaging	1.00
IGL01464:Apoh	APN	11	108,286,716 (GRCm39)	missense	probably damaging	1.00
IGL02646:Apoh	APN	11	108,302,968 (GRCm39)	missense	probably benign	0.15
R0125:Apoh	UTSW	11	108,302,899 (GRCm39)	missense	probably damaging	1.00
R0359:Apoh	UTSW	11	108,288,199 (GRCm39)	missense	probably damaging	1.00
R1969:Apoh	UTSW	11	108,298,288 (GRCm39)	missense	probably benign	0.00
R2280:Apoh	UTSW	11	108,300,006 (GRCm39)	nonsense	probably null
R2568:Apoh	UTSW	11	108,295,697 (GRCm39)	missense	probably benign	0.00
R4369:Apoh	UTSW	11	108,288,205 (GRCm39)	missense	probably damaging	1.00
R4789:Apoh	UTSW	11	108,300,064 (GRCm39)	missense	probably damaging	1.00
R4824:Apoh	UTSW	11	108,305,087 (GRCm39)	missense	probably benign	0.37
R4937:Apoh	UTSW	11	108,298,204 (GRCm39)	missense	probably benign	0.19
R5634:Apoh	UTSW	11	108,302,875 (GRCm39)	missense	probably damaging	1.00
R5900:Apoh	UTSW	11	108,302,843 (GRCm39)	missense	probably damaging	0.99
R5951:Apoh	UTSW	11	108,286,729 (GRCm39)	missense	probably damaging	1.00
R6054:Apoh	UTSW	11	108,286,801 (GRCm39)	missense	probably damaging	1.00
R6126:Apoh	UTSW	11	108,288,199 (GRCm39)	missense	probably damaging	1.00
R7343:Apoh	UTSW	11	108,286,674 (GRCm39)	missense	probably benign	0.14
R7471:Apoh	UTSW	11	108,298,131 (GRCm39)	missense	probably damaging	1.00
R8557:Apoh	UTSW	11	108,300,062 (GRCm39)	missense	probably damaging	0.99
R9310:Apoh	UTSW	11	108,298,307 (GRCm39)	critical splice donor site	probably null
R9671:Apoh	UTSW	11	108,286,792 (GRCm39)	nonsense	probably null
X0065:Apoh	UTSW	11	108,286,176 (GRCm39)	missense	probably damaging	1.00
Z1176:Apoh	UTSW	11	108,234,285 (GRCm39)	start gained	probably benign

Posted On

2014-05-07