Incidental Mutation 'IGL01779:Apof'
| ID |
153893 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Apof
|
| Ensembl Gene |
ENSMUSG00000047631 |
| Gene Name |
apolipoprotein F |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01779
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128103866-128106022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128105346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 167
(I167V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050901]
[ENSMUST00000085708]
[ENSMUST00000105238]
|
| AlphaFold |
Q91V80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050901
AA Change: I167V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000050300
Gene: ENSMUSG00000047631
AA Change: I167V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:Apolipo_F
|
63 |
262 |
1.3e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085708
|
| SMART Domains |
Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
124 |
4.49e-54 |
SMART |
|
Pfam:STAT_alpha
|
138 |
314 |
5e-52 |
PFAM |
|
Pfam:STAT_bind
|
316 |
564 |
1.2e-96 |
PFAM |
|
SH2
|
576 |
652 |
4.71e-6 |
SMART |
|
internal_repeat_1
|
750 |
778 |
6.35e-10 |
PROSPERO |
|
internal_repeat_1
|
822 |
850 |
6.35e-10 |
PROSPERO |
|
Pfam:STAT2_C
|
853 |
907 |
1.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105238
|
| SMART Domains |
Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
124 |
4.49e-54 |
SMART |
|
Pfam:STAT_alpha
|
141 |
314 |
2.6e-49 |
PFAM |
|
Pfam:STAT_bind
|
316 |
564 |
1.5e-67 |
PFAM |
|
SH2
|
577 |
653 |
4.71e-6 |
SMART |
|
internal_repeat_1
|
751 |
779 |
6.69e-10 |
PROSPERO |
|
internal_repeat_1
|
823 |
851 |
6.69e-10 |
PROSPERO |
|
Pfam:STAT2_C
|
854 |
908 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218863
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired ABCG1-mediated cholesterol efflux. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
T |
5: 81,535,717 (GRCm39) |
I119F |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,623,603 (GRCm39) |
G286R |
probably damaging |
Het |
| Arhgap15 |
A |
G |
2: 43,955,057 (GRCm39) |
E220G |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,525,139 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,399 (GRCm39) |
I383V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,895,064 (GRCm39) |
D112G |
probably damaging |
Het |
| Col8a1 |
A |
T |
16: 57,448,726 (GRCm39) |
H261Q |
unknown |
Het |
| Csmd3 |
A |
T |
15: 47,721,290 (GRCm39) |
V1551D |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,470,857 (GRCm39) |
V1450M |
possibly damaging |
Het |
| Ethe1 |
A |
T |
7: 24,294,434 (GRCm39) |
H79L |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm11110 |
C |
T |
17: 57,409,087 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
C |
T |
12: 8,391,945 (GRCm39) |
T349I |
probably benign |
Het |
| Ifna16 |
A |
T |
4: 88,594,882 (GRCm39) |
I71N |
probably damaging |
Het |
| Il18bp |
A |
G |
7: 101,666,002 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,979 (GRCm39) |
I511N |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,870,672 (GRCm39) |
M528V |
probably benign |
Het |
| Or52d1 |
A |
G |
7: 103,755,840 (GRCm39) |
D118G |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,050,641 (GRCm39) |
I52N |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,819,291 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
A |
T |
14: 56,699,520 (GRCm39) |
I553F |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,799,524 (GRCm39) |
H180Q |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc30a10 |
A |
T |
1: 185,196,376 (GRCm39) |
Q346L |
possibly damaging |
Het |
| Stambpl1 |
A |
T |
19: 34,217,427 (GRCm39) |
H422L |
possibly damaging |
Het |
| Trim67 |
G |
A |
8: 125,554,860 (GRCm39) |
G701R |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,493,696 (GRCm39) |
F249S |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,215 (GRCm39) |
D397E |
probably benign |
Het |
|
| Other mutations in Apof |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02403:Apof
|
APN |
10 |
128,105,353 (GRCm39) |
splice site |
probably null |
|
|
IGL03113:Apof
|
APN |
10 |
128,105,568 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1725:Apof
|
UTSW |
10 |
128,105,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5104:Apof
|
UTSW |
10 |
128,105,487 (GRCm39) |
nonsense |
probably null |
|
|
R6460:Apof
|
UTSW |
10 |
128,105,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Apof
|
UTSW |
10 |
128,105,505 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7483:Apof
|
UTSW |
10 |
128,104,636 (GRCm39) |
missense |
probably benign |
|
|
R7672:Apof
|
UTSW |
10 |
128,104,885 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8442:Apof
|
UTSW |
10 |
128,104,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Apof
|
UTSW |
10 |
128,105,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation