Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:Apoh'

487411

Institutional Source

Beutler Lab

Gene Symbol

Apoh

Ensembl Gene

ENSMUSG00000000049

Gene Name

apolipoprotein H

Synonyms

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

MMRRC Submission

044273-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108343354-108414396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108397373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 106 (I106F)

Ref Sequence

ENSEMBL: ENSMUSP00000000049 (fasta)

Gene Model

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

AlphaFold

Q01339

Predicted Effect

probably damaging
Transcript: ENSMUST00000000049
AA Change: I106F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: I106F

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: I106F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114214
Gene: ENSMUSG00000000049
AA Change: I106F

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

Meta Mutation Damage Score

0.1855

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,056,574 (GRCm38)	R111H	probably damaging	Het
Alk	G	A	17: 71,875,042 (GRCm38)	L1329F	possibly damaging	Het
Atp8a2	C	T	14: 60,044,326 (GRCm38)	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309 (GRCm38)	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482 (GRCm38)	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921 (GRCm38)	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Dst	T	A	1: 34,228,183 (GRCm38)	I5080K	probably damaging	Het
Ecd	T	C	14: 20,338,425 (GRCm38)		probably null	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570 (GRCm38)	K638*	probably null	Het
Fblim1	G	A	4: 141,584,722 (GRCm38)	R231C	probably damaging	Het
Fig4	A	G	10: 41,265,447 (GRCm38)	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505 (GRCm38)	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983 (GRCm38)	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313 (GRCm38)	R72H	unknown	Het
Gm906	G	T	13: 50,246,290 (GRCm38)	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917 (GRCm38)	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708 (GRCm38)	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374 (GRCm38)	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899 (GRCm38)	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876 (GRCm38)	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011 (GRCm38)		probably null	Het
Mnx1	G	T	5: 29,478,112 (GRCm38)	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232 (GRCm38)	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772 (GRCm38)	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887 (GRCm38)		probably null	Het
Olfr530	T	G	7: 140,373,253 (GRCm38)	Y119S	probably damaging	Het
Otx1	T	C	11: 21,996,457 (GRCm38)		probably benign	Het
Panx1	T	A	9: 15,007,790 (GRCm38)	I258F	probably benign	Het
Pask	T	C	1: 93,314,359 (GRCm38)	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529 (GRCm38)	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824 (GRCm38)	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,643,377 (GRCm38)	T136A	possibly damaging	Het
Rab35	A	G	5: 115,645,708 (GRCm38)	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214 (GRCm38)	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276 (GRCm38)	D1188V	probably benign	Het
Robo2	C	T	16: 73,920,682 (GRCm38)	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Ryr1	A	C	7: 29,076,239 (GRCm38)	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670 (GRCm38)	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804 (GRCm38)	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044 (GRCm38)	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265 (GRCm38)	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285 (GRCm38)	V1503D	probably damaging	Het
Srsf11	C	T	3: 158,023,344 (GRCm38)		probably benign	Het
Tex15	A	G	8: 33,573,563 (GRCm38)	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660 (GRCm38)	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102 (GRCm38)	H474L	probably benign	Het
Wnk4	A	G	11: 101,276,348 (GRCm38)		probably benign	Het
Zfp292	T	C	4: 34,808,497 (GRCm38)	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573 (GRCm38)	A2121T	probably benign	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het

Other mutations in Apoh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Apoh	APN	11	108,395,834 (GRCm38)	missense	probably benign	0.45
IGL01327:Apoh	APN	11	108,397,361 (GRCm38)	missense	probably damaging	1.00
IGL01353:Apoh	APN	11	108,397,385 (GRCm38)	missense	probably damaging	1.00
IGL01464:Apoh	APN	11	108,395,890 (GRCm38)	missense	probably damaging	1.00
IGL02065:Apoh	APN	11	108,414,305 (GRCm38)	utr 3 prime	probably benign
IGL02646:Apoh	APN	11	108,412,142 (GRCm38)	missense	probably benign	0.15
R0125:Apoh	UTSW	11	108,412,073 (GRCm38)	missense	probably damaging	1.00
R0359:Apoh	UTSW	11	108,397,373 (GRCm38)	missense	probably damaging	1.00
R1969:Apoh	UTSW	11	108,407,462 (GRCm38)	missense	probably benign	0.00
R2280:Apoh	UTSW	11	108,409,180 (GRCm38)	nonsense	probably null
R2568:Apoh	UTSW	11	108,404,871 (GRCm38)	missense	probably benign	0.00
R4369:Apoh	UTSW	11	108,397,379 (GRCm38)	missense	probably damaging	1.00
R4789:Apoh	UTSW	11	108,409,238 (GRCm38)	missense	probably damaging	1.00
R4824:Apoh	UTSW	11	108,414,261 (GRCm38)	missense	probably benign	0.37
R4937:Apoh	UTSW	11	108,407,378 (GRCm38)	missense	probably benign	0.19
R5634:Apoh	UTSW	11	108,412,049 (GRCm38)	missense	probably damaging	1.00
R5900:Apoh	UTSW	11	108,412,017 (GRCm38)	missense	probably damaging	0.99
R5951:Apoh	UTSW	11	108,395,903 (GRCm38)	missense	probably damaging	1.00
R6054:Apoh	UTSW	11	108,395,975 (GRCm38)	missense	probably damaging	1.00
R7343:Apoh	UTSW	11	108,395,848 (GRCm38)	missense	probably benign	0.14
R7471:Apoh	UTSW	11	108,407,305 (GRCm38)	missense	probably damaging	1.00
R8557:Apoh	UTSW	11	108,409,236 (GRCm38)	missense	probably damaging	0.99
R9310:Apoh	UTSW	11	108,407,481 (GRCm38)	critical splice donor site	probably null
R9671:Apoh	UTSW	11	108,395,966 (GRCm38)	nonsense	probably null
X0065:Apoh	UTSW	11	108,395,350 (GRCm38)	missense	probably damaging	1.00
Z1176:Apoh	UTSW	11	108,343,459 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAGATCGTCCAAGTCCTGTTG -3'
(R):5'- GCATTTGGTGAAAGCAGGAC -3'

Sequencing Primer
(F):5'- CGTCCAAGTCCTGTTGTAATACATG -3'
(R):5'- CATTTGGTGAAAGCAGGACTTAAATG -3'

Posted On

2017-10-10