Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02705:Apom'

304307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apom

Ensembl Gene

ENSMUSG00000024391

Gene Name

apolipoprotein M

Synonyms

1190010O19Rik, NG20, G3a

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02705

Quality Score

Status

Chromosome

Chromosomal Location

35347973-35350777 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 35349471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025249] [ENSMUST00000025250] [ENSMUST00000061859] [ENSMUST00000166426] [ENSMUST00000172571] [ENSMUST00000173491] [ENSMUST00000173535]

AlphaFold

Q9Z1R3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025249
AA Change: M121L

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025249
Gene: ENSMUSG00000024391
AA Change: M121L

Domain	Start	End	E-Value	Type
Pfam:ApoM	1	189	9.2e-99	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000025250

SMART Domains

Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	220	239	N/A	INTRINSIC
low complexity region	246	264	N/A	INTRINSIC
Pfam:DUF3538	277	393	1.7e-44	PFAM
low complexity region	427	438	N/A	INTRINSIC
low complexity region	557	625	N/A	INTRINSIC
low complexity region	632	648	N/A	INTRINSIC
low complexity region	673	721	N/A	INTRINSIC
low complexity region	725	747	N/A	INTRINSIC
low complexity region	765	780	N/A	INTRINSIC
low complexity region	798	808	N/A	INTRINSIC
low complexity region	1029	1042	N/A	INTRINSIC
low complexity region	1088	1098	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000061859

SMART Domains

Protein: ENSMUSP00000061264
Gene: ENSMUSG00000043311

Domain	Start	End	E-Value	Type
Pfam:DUF4661	16	264	8.3e-141	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166426

SMART Domains

Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	228	246	N/A	INTRINSIC
Pfam:DUF3538	259	375	3.7e-53	PFAM
low complexity region	409	420	N/A	INTRINSIC
low complexity region	539	607	N/A	INTRINSIC
low complexity region	614	630	N/A	INTRINSIC
low complexity region	655	703	N/A	INTRINSIC
low complexity region	707	729	N/A	INTRINSIC
low complexity region	747	762	N/A	INTRINSIC
low complexity region	780	790	N/A	INTRINSIC
low complexity region	1011	1024	N/A	INTRINSIC
low complexity region	1070	1080	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172571

SMART Domains

Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	228	252	N/A	INTRINSIC
Pfam:DUF3538	254	370	3.5e-53	PFAM
low complexity region	404	415	N/A	INTRINSIC
low complexity region	534	602	N/A	INTRINSIC
low complexity region	609	625	N/A	INTRINSIC
low complexity region	650	698	N/A	INTRINSIC
low complexity region	702	724	N/A	INTRINSIC
low complexity region	742	757	N/A	INTRINSIC
low complexity region	775	785	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173491

SMART Domains

Protein: ENSMUSP00000134279
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173535

SMART Domains

Protein: ENSMUSP00000133822
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	20	29	N/A	INTRINSIC
low complexity region	30	45	N/A	INTRINSIC
UBQ	58	128	5.62e-22	SMART
low complexity region	137	153	N/A	INTRINSIC
low complexity region	230	247	N/A	INTRINSIC
low complexity region	261	280	N/A	INTRINSIC
low complexity region	287	305	N/A	INTRINSIC
Pfam:DUF3538	318	434	1.3e-53	PFAM
low complexity region	468	479	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173576

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased plasma cholesterol and triglyceride levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,791,264 (GRCm39)	F99S	probably damaging	Het
Ankrd17	G	A	5: 90,430,974 (GRCm39)	P937S	probably benign	Het
Baz2b	A	G	2: 59,778,604 (GRCm39)	I752T	possibly damaging	Het
Bcat1	T	C	6: 144,964,914 (GRCm39)		probably benign	Het
Bcl9	A	G	3: 97,112,181 (GRCm39)	F1425L	possibly damaging	Het
Bco1	G	A	8: 117,844,242 (GRCm39)	V319M	possibly damaging	Het
Dmwd	C	A	7: 18,814,769 (GRCm39)	T473K	probably benign	Het
Garin4	T	C	1: 190,896,499 (GRCm39)	Y48C	probably damaging	Het
Gata2	C	T	6: 88,182,346 (GRCm39)	A438V	possibly damaging	Het
Ifnz	A	G	4: 88,701,574 (GRCm39)		probably benign	Het
Myh14	T	C	7: 44,257,960 (GRCm39)	I1859V	possibly damaging	Het
Ndn	A	G	7: 61,998,856 (GRCm39)	D234G	probably damaging	Het
Nfe2l3	T	C	6: 51,410,098 (GRCm39)	L71P	probably damaging	Het
Nfia	T	G	4: 97,671,605 (GRCm39)	L105R	probably damaging	Het
Npy2r	T	A	3: 82,448,056 (GRCm39)	T127S	probably benign	Het
Or51a8	T	C	7: 102,550,449 (GRCm39)	Y292H	probably damaging	Het
Or7g12	T	A	9: 18,899,696 (GRCm39)	N137K	probably benign	Het
Ppip5k2	A	T	1: 97,686,924 (GRCm39)	C94S	probably damaging	Het
Pramel26	A	G	4: 143,537,372 (GRCm39)	S320P	probably damaging	Het
Slc1a6	T	C	10: 78,637,788 (GRCm39)	V438A	probably damaging	Het
Slc6a7	C	T	18: 61,142,500 (GRCm39)	G71R	probably damaging	Het
Styk1	C	T	6: 131,289,546 (GRCm39)	V23I	probably benign	Het
Tmprss5	C	A	9: 49,018,447 (GRCm39)	N92K	probably benign	Het
Trpm6	T	G	19: 18,754,097 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,677,114 (GRCm39)		probably benign	Het
Tut7	A	G	13: 59,937,017 (GRCm39)	F808S	probably damaging	Het
Vmn2r109	G	A	17: 20,774,062 (GRCm39)	A431V	probably benign	Het
Wdr17	C	T	8: 55,101,250 (GRCm39)		probably null	Het
Zfp407	G	T	18: 84,577,156 (GRCm39)	S1319*	probably null	Het

Other mutations in Apom

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01909:Apom	APN	17	35,350,208 (GRCm39)	missense	probably benign	0.00
R9323:Apom	UTSW	17	35,350,633 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16