Incidental Mutation 'IGL01909:Apom'
| ID |
179765 |
| 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
|
| Stock # |
IGL01909
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35347973-35350777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35350208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 78
(A78T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025249]
[ENSMUST00000025250]
[ENSMUST00000061859]
[ENSMUST00000166426]
[ENSMUST00000172571]
[ENSMUST00000173491]
[ENSMUST00000173535]
[ENSMUST00000173550]
[ENSMUST00000173952]
[ENSMUST00000174478]
[ENSMUST00000174281]
|
| AlphaFold |
Q9Z1R3 |
| PDB Structure |
CRYSTAL STRUCTURE OF MOUSE APOLIPOPROTEIN M [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025249
AA Change: A78T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025249
Gene: ENSMUSG00000024391
AA Change: A78T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoM
|
1 |
189 |
9.2e-99 |
PFAM |
|
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000172889
|
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000173576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174311
|
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000173550
|
| SMART Domains |
Protein: ENSMUSP00000134628
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
|
496 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
1046 |
1059 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173952
|
| SMART Domains |
Protein: ENSMUSP00000134717
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
|
212 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174478
|
| SMART Domains |
Protein: ENSMUSP00000138117
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174281
|
| SMART Domains |
Protein: ENSMUSP00000134425
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 |
3.6e-53 |
PFAM |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1077 |
N/A |
INTRINSIC |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700111E14Rik |
A |
T |
6: 36,914,152 (GRCm39) |
|
probably benign |
Het |
| Actn2 |
A |
T |
13: 12,324,479 (GRCm39) |
|
probably null |
Het |
| Bambi |
A |
G |
18: 3,508,229 (GRCm39) |
Y7C |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,576 (GRCm39) |
M418V |
probably benign |
Het |
| Clptm1 |
T |
C |
7: 19,389,701 (GRCm39) |
N43D |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,136,886 (GRCm39) |
V241A |
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 63,339,910 (GRCm39) |
I32N |
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,752,576 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,608,844 (GRCm39) |
D893G |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| H2-M10.1 |
C |
A |
17: 36,635,971 (GRCm39) |
G154* |
probably null |
Het |
| Igdcc3 |
C |
T |
9: 65,051,819 (GRCm39) |
R141W |
probably damaging |
Het |
| Igkv14-130 |
A |
G |
6: 67,768,323 (GRCm39) |
K60E |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,512 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,324,529 (GRCm39) |
L1288P |
possibly damaging |
Het |
| Mavs |
T |
A |
2: 131,087,441 (GRCm39) |
M313K |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,154,731 (GRCm39) |
E148G |
possibly damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,950 (GRCm39) |
T188S |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,159 (GRCm39) |
I68K |
possibly damaging |
Het |
| Or8d1 |
T |
A |
9: 38,767,013 (GRCm39) |
Y218* |
probably null |
Het |
| Plekha3 |
C |
T |
2: 76,517,047 (GRCm39) |
T133M |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,309,066 (GRCm39) |
|
probably null |
Het |
| Septin2 |
A |
G |
1: 93,426,823 (GRCm39) |
N144S |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,651,451 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,594,312 (GRCm39) |
I59K |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,184 (GRCm39) |
S1243G |
possibly damaging |
Het |
| Unc13a |
T |
A |
8: 72,091,854 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,444,918 (GRCm39) |
R525G |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r37 |
T |
A |
7: 9,219,032 (GRCm39) |
K451* |
probably null |
Het |
| Vmn2r71 |
C |
T |
7: 85,270,001 (GRCm39) |
T504I |
probably benign |
Het |
| Zfp668 |
A |
T |
7: 127,465,994 (GRCm39) |
C397S |
probably damaging |
Het |
|
| Other mutations in Apom |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02705:Apom
|
APN |
17 |
35,349,471 (GRCm39) |
splice site |
probably null |
|
|
R9323:Apom
|
UTSW |
17 |
35,350,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation