Incidental Mutation 'R4369:Apoh'
| ID |
325909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apoh
|
| Ensembl Gene |
ENSMUSG00000000049 |
| Gene Name |
apolipoprotein H |
| Synonyms |
B2GPI, beta-2-glycoprotein 1, beta-2-GPI |
| MMRRC Submission |
041116-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R4369 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
108286123-108305222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108288205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 108
(F108L)
|
| 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: F108L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: F108L
| 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: F108L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114214
Gene: ENSMUSG00000000049
AA Change: F108L
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
A |
T |
6: 52,156,042 (GRCm39) |
|
probably benign |
Het |
| A730018C14Rik |
T |
C |
12: 112,382,048 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc1 |
T |
G |
16: 14,278,857 (GRCm39) |
S1056A |
possibly damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,283,779 (GRCm39) |
K4* |
probably null |
Het |
| Amph |
T |
A |
13: 19,321,870 (GRCm39) |
S516R |
probably benign |
Het |
| Arg2 |
T |
C |
12: 79,196,746 (GRCm39) |
S156P |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,207,815 (GRCm39) |
L582* |
probably null |
Het |
| Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,943,742 (GRCm39) |
V275D |
probably damaging |
Het |
| Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
| Cpd |
T |
C |
11: 76,688,537 (GRCm39) |
N912D |
possibly damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,412,658 (GRCm39) |
I440T |
probably damaging |
Het |
| Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
| Dpep2 |
T |
G |
8: 106,711,707 (GRCm39) |
L573F |
probably benign |
Het |
| Ebag9 |
T |
C |
15: 44,491,865 (GRCm39) |
S86P |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,798,330 (GRCm39) |
Y466H |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,239,164 (GRCm39) |
E84G |
probably damaging |
Het |
| Ffar1 |
A |
G |
7: 30,560,033 (GRCm39) |
I288T |
probably benign |
Het |
| Flnb |
C |
T |
14: 7,942,216 (GRCm38) |
T2398I |
probably benign |
Het |
| Galnt15 |
T |
C |
14: 31,751,496 (GRCm39) |
F16S |
possibly damaging |
Het |
| Golgb1 |
A |
G |
16: 36,737,269 (GRCm39) |
E2172G |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,580,560 (GRCm39) |
H161L |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,386,155 (GRCm39) |
N3457S |
possibly damaging |
Het |
| Map7d1 |
A |
T |
4: 126,128,866 (GRCm39) |
S436T |
probably damaging |
Het |
| Nmral1 |
T |
C |
16: 4,532,394 (GRCm39) |
Y139C |
probably damaging |
Het |
| Noc2l |
A |
G |
4: 156,321,853 (GRCm39) |
D84G |
possibly damaging |
Het |
| Or2a25 |
T |
A |
6: 42,889,211 (GRCm39) |
Y251* |
probably null |
Het |
| Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
| Osbpl11 |
T |
C |
16: 33,045,018 (GRCm39) |
S386P |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,618,791 (GRCm39) |
H283R |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,139,796 (GRCm39) |
V475A |
possibly damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,935,386 (GRCm39) |
I212T |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,368,949 (GRCm39) |
R865W |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,764,708 (GRCm39) |
T691A |
probably benign |
Het |
| Rnf121 |
T |
C |
7: 101,673,313 (GRCm39) |
D206G |
probably benign |
Het |
| Rnf122 |
T |
A |
8: 31,602,177 (GRCm39) |
M1K |
probably null |
Het |
| Shank2 |
T |
C |
7: 143,733,518 (GRCm39) |
S22P |
probably damaging |
Het |
| Smg6 |
C |
T |
11: 74,823,269 (GRCm39) |
R175* |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Thsd7a |
C |
T |
6: 12,468,907 (GRCm39) |
C557Y |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,242 (GRCm39) |
|
probably benign |
Het |
| Trgv4 |
T |
C |
13: 19,369,567 (GRCm39) |
Y104H |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,594,345 (GRCm39) |
W18788* |
probably null |
Het |
| Vmn2r82 |
A |
T |
10: 79,231,914 (GRCm39) |
I638F |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,863,229 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL01327:Apoh
|
APN |
11 |
108,288,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGATCGTCCAAGTCCTGTTGTAATAC -3'
(R):5'- TAGCATTTGGTGAAAGCAGGAC -3'
Sequencing Primer
(F):5'- CCAAGTCCTGTTGTAATACATGTATC -3'
(R):5'- CATTTGGTGAAAGCAGGACTTAAATG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation