Incidental Mutation 'R2763:Apol9a'
| ID |
254169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apol9a
|
| Ensembl Gene |
ENSMUSG00000057346 |
| Gene Name |
apolipoprotein L 9a |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2763 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77287989-77295280 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77288617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 250
(E250G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081776]
[ENSMUST00000089452]
[ENSMUST00000231161]
|
| AlphaFold |
Q8VDU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081776
AA Change: E250G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000080468
Gene: ENSMUSG00000057346
AA Change: E250G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
1 |
310 |
2.7e-118 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089452
AA Change: E250G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000086875
Gene: ENSMUSG00000057346
AA Change: E250G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
1 |
310 |
1.5e-114 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231161
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
A |
15: 83,111,871 (GRCm39) |
D304V |
probably benign |
Het |
| Ablim3 |
T |
A |
18: 61,946,615 (GRCm39) |
K516* |
probably null |
Het |
| Akap11 |
A |
G |
14: 78,756,332 (GRCm39) |
F22S |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,326,908 (GRCm39) |
|
probably null |
Het |
| Calcrl |
T |
C |
2: 84,200,847 (GRCm39) |
R66G |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,573,356 (GRCm39) |
Q187* |
probably null |
Het |
| Cd177 |
G |
A |
7: 24,457,462 (GRCm39) |
A193V |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,199,508 (GRCm39) |
V872A |
probably benign |
Het |
| Cebpz |
A |
G |
17: 79,243,358 (GRCm39) |
S99P |
probably benign |
Het |
| Cmtr1 |
G |
A |
17: 29,899,602 (GRCm39) |
E632K |
possibly damaging |
Het |
| Dysf |
A |
T |
6: 84,083,914 (GRCm39) |
H782L |
probably benign |
Het |
| Fem1a |
A |
G |
17: 56,564,537 (GRCm39) |
E210G |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,352,761 (GRCm39) |
I884T |
possibly damaging |
Het |
| Gstm6 |
G |
A |
3: 107,848,358 (GRCm39) |
T173M |
possibly damaging |
Het |
| Pcdhgb8 |
T |
A |
18: 37,895,315 (GRCm39) |
N128K |
probably damaging |
Het |
| Phkg2 |
A |
G |
7: 127,179,005 (GRCm39) |
E139G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,070,306 (GRCm39) |
V1157E |
possibly damaging |
Het |
| Septin9 |
C |
T |
11: 117,217,327 (GRCm39) |
T6I |
probably benign |
Het |
| Shkbp1 |
T |
A |
7: 27,046,454 (GRCm39) |
M437L |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,084,061 (GRCm39) |
C1904R |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Zfp646 |
T |
A |
7: 127,479,210 (GRCm39) |
C242* |
probably null |
Het |
|
| Other mutations in Apol9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3768:Apol9a
|
UTSW |
15 |
77,288,596 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3769:Apol9a
|
UTSW |
15 |
77,288,596 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3770:Apol9a
|
UTSW |
15 |
77,288,596 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4208:Apol9a
|
UTSW |
15 |
77,288,596 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5896:Apol9a
|
UTSW |
15 |
77,288,705 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6093:Apol9a
|
UTSW |
15 |
77,288,620 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6778:Apol9a
|
UTSW |
15 |
77,288,533 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7559:Apol9a
|
UTSW |
15 |
77,288,761 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8311:Apol9a
|
UTSW |
15 |
77,289,220 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8397:Apol9a
|
UTSW |
15 |
77,288,813 (GRCm39) |
missense |
probably benign |
|
|
R8714:Apol9a
|
UTSW |
15 |
77,288,942 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9572:Apol9a
|
UTSW |
15 |
77,288,804 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTAGAATTCCATGAGCCCCTC -3'
(R):5'- CACAAGTGTGGATAGGATTGCC -3'
Sequencing Primer
(F):5'- GAATTCCATGAGCCCCTCTAGCTTC -3'
(R):5'- ATAGGATTGCCAGCAAGGTCCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation