Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:Apoh'

74303

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 #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

108286123-108305222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108288187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 102 (Y102D)

Ref Sequence

ENSEMBL: ENSMUSP00000114214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000049] [ENSMUST00000133383] [ENSMUST00000146050] [ENSMUST00000152958]

AlphaFold

Q01339

Predicted Effect

probably damaging
Transcript: ENSMUST00000000049
AA Change: Y102D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: Y102D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133383

SMART Domains

Protein: ENSMUSP00000115516
Gene: ENSMUSG00000000049

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sushi	23	51	6.7e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146050

Predicted Effect

probably damaging
Transcript: ENSMUST00000152958
AA Change: Y102D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114214
Gene: ENSMUSG00000000049
AA Change: Y102D

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,029,521 (GRCm39)	V497E	probably damaging	Het
Adcy7	T	G	8: 89,045,418 (GRCm39)		probably benign	Het
Aldh1a2	T	A	9: 71,193,248 (GRCm39)	F486I	possibly damaging	Het
Alox12	T	A	11: 70,145,375 (GRCm39)	H66L	probably benign	Het
Arl9	T	C	5: 77,154,401 (GRCm39)	V43A	possibly damaging	Het
Atf6	A	G	1: 170,616,175 (GRCm39)		probably null	Het
Atp4a	T	A	7: 30,412,675 (GRCm39)	I127N	possibly damaging	Het
AY358078	T	A	14: 52,043,166 (GRCm39)		probably benign	Het
Baat	T	G	4: 49,490,338 (GRCm39)	K249Q	probably damaging	Het
Brat1	C	T	5: 140,703,963 (GRCm39)	Q739*	probably null	Het
C8g	A	G	2: 25,389,089 (GRCm39)	F165L	probably damaging	Het
Cel	T	G	2: 28,447,967 (GRCm39)	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,546,813 (GRCm39)	T803K	unknown	Het
Cpxm1	A	G	2: 130,238,277 (GRCm39)	L95P	probably benign	Het
Ctsr	A	G	13: 61,310,489 (GRCm39)		probably benign	Het
Cyth1	A	G	11: 118,084,439 (GRCm39)		probably null	Het
Dync1h1	A	T	12: 110,583,126 (GRCm39)		probably benign	Het
Ezh1	C	T	11: 101,094,262 (GRCm39)	C407Y	probably damaging	Het
Fam243	T	C	16: 92,117,661 (GRCm39)	Y209C	probably benign	Het
Gm3696	A	T	14: 18,435,903 (GRCm39)	W38R	probably benign	Het
Gm9611	T	C	14: 42,116,622 (GRCm39)	T39A	possibly damaging	Het
Gnpat	T	A	8: 125,605,372 (GRCm39)	L287H	probably damaging	Het
Golm1	G	T	13: 59,792,958 (GRCm39)	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,798,013 (GRCm39)	M899V	probably benign	Het
Hsf3	T	A	X: 95,358,578 (GRCm39)	M272L	probably benign	Het
Kif19a	C	T	11: 114,672,625 (GRCm39)		probably benign	Het
Lcn2	T	G	2: 32,276,030 (GRCm39)	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,131 (GRCm39)	S180R	probably damaging	Het
Ly6h	A	G	15: 75,436,948 (GRCm39)		probably benign	Het
Macf1	T	C	4: 123,403,705 (GRCm39)	N705D	probably benign	Het
Mst1r	C	T	9: 107,785,043 (GRCm39)	P234S	probably benign	Het
Msto1	T	A	3: 88,817,939 (GRCm39)		probably null	Het
Myo5a	T	A	9: 75,094,820 (GRCm39)		probably benign	Het
Nipa1	T	C	7: 55,629,409 (GRCm39)	I235V	probably benign	Het
Nlgn3	T	C	X: 100,362,228 (GRCm39)	V399A	probably benign	Het
Or1d2	T	A	11: 74,255,738 (GRCm39)	M81K	possibly damaging	Het
Or2b28	A	G	13: 21,531,377 (GRCm39)	N93S	probably benign	Het
Pih1d1	T	C	7: 44,809,399 (GRCm39)	S289P	probably benign	Het
Ppl	T	C	16: 4,905,508 (GRCm39)	N1596D	probably benign	Het
Psmb6	T	A	11: 70,417,412 (GRCm39)	S114R	possibly damaging	Het
Pum1	C	A	4: 130,457,854 (GRCm39)	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,054,676 (GRCm39)	I75V	probably benign	Het
Slc24a3	T	A	2: 145,444,478 (GRCm39)	I284N	probably benign	Het
Slc44a3	C	T	3: 121,320,842 (GRCm39)	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,668,565 (GRCm39)	D736A	probably benign	Het
Stra6	A	G	9: 58,059,854 (GRCm39)	D605G	probably benign	Het
Tas2r126	T	A	6: 42,411,684 (GRCm39)	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,564,408 (GRCm39)	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,319,925 (GRCm39)	G14R	probably benign	Het
Ticrr	C	T	7: 79,344,209 (GRCm39)	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,184,340 (GRCm39)	N518K	probably benign	Het
Trpm4	C	A	7: 44,964,497 (GRCm39)	W533C	probably damaging	Het
Tsen54	T	C	11: 115,712,538 (GRCm39)	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,304,597 (GRCm39)	T219M	probably damaging	Het
Usp19	T	C	9: 108,376,160 (GRCm39)	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,279,616 (GRCm39)	Y43F	probably benign	Het
Vsig1	T	A	X: 139,838,429 (GRCm39)	V283E	possibly damaging	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
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
IGL02065:Apoh	APN	11	108,305,131 (GRCm39)	utr 3 prime	probably benign
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

2013-10-07