Incidental Mutation 'R4566:Apol7a'
| ID |
343330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apol7a
|
| Ensembl Gene |
ENSMUSG00000010601 |
| Gene Name |
apolipoprotein L 7a |
| Synonyms |
9130022K13Rik, Apol3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77272419-77283310 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 77273951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 170
(Y170*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010745]
[ENSMUST00000175789]
[ENSMUST00000175919]
[ENSMUST00000176074]
|
| AlphaFold |
B2RT54 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000010745
AA Change: Y170*
|
| SMART Domains |
Protein: ENSMUSP00000010745
Gene: ENSMUSG00000010601
AA Change: Y170*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
20 |
82 |
2.4e-13 |
PFAM |
|
low complexity region
|
84 |
95 |
N/A |
INTRINSIC |
|
Pfam:ApoL
|
123 |
416 |
1.8e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175789
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000175919
AA Change: Y170*
|
| SMART Domains |
Protein: ENSMUSP00000135864
Gene: ENSMUSG00000010601
AA Change: Y170*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
20 |
416 |
3.1e-138 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176074
AA Change: Y170*
|
| SMART Domains |
Protein: ENSMUSP00000134864
Gene: ENSMUSG00000010601
AA Change: Y170*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
20 |
416 |
3.1e-138 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177135
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,927 (GRCm39) |
E5082G |
probably damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,481,386 (GRCm39) |
I165F |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Espnl |
C |
A |
1: 91,272,301 (GRCm39) |
P510T |
possibly damaging |
Het |
| Fbxw4 |
A |
G |
19: 45,580,225 (GRCm39) |
V258A |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,471 (GRCm39) |
M191T |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,715,537 (GRCm39) |
L38P |
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,058,203 (GRCm39) |
R893C |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,056,597 (GRCm39) |
V1181I |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,823 (GRCm39) |
C188* |
probably null |
Het |
| Pithd1 |
A |
G |
4: 135,704,548 (GRCm39) |
V56A |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,494,338 (GRCm39) |
K93E |
probably benign |
Het |
| Ppp2cb |
T |
C |
8: 34,100,723 (GRCm39) |
V48A |
possibly damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
T |
C |
1: 9,616,452 (GRCm39) |
F235S |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,293 (GRCm39) |
L849F |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Trps1 |
A |
G |
15: 50,695,074 (GRCm39) |
V116A |
probably damaging |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
| Yy1 |
T |
A |
12: 108,778,889 (GRCm39) |
I296K |
probably damaging |
Het |
|
| Other mutations in Apol7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Apol7a
|
APN |
15 |
77,274,055 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01408:Apol7a
|
APN |
15 |
77,273,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01702:Apol7a
|
APN |
15 |
77,273,886 (GRCm39) |
splice site |
probably null |
|
|
IGL02215:Apol7a
|
APN |
15 |
77,277,690 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02931:Apol7a
|
APN |
15 |
77,277,650 (GRCm39) |
nonsense |
probably null |
|
|
R0610:Apol7a
|
UTSW |
15 |
77,273,454 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0652:Apol7a
|
UTSW |
15 |
77,274,055 (GRCm39) |
unclassified |
probably benign |
|
|
R1616:Apol7a
|
UTSW |
15 |
77,273,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Apol7a
|
UTSW |
15 |
77,277,671 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3034:Apol7a
|
UTSW |
15 |
77,273,923 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5059:Apol7a
|
UTSW |
15 |
77,274,012 (GRCm39) |
unclassified |
probably benign |
|
|
R6807:Apol7a
|
UTSW |
15 |
77,277,520 (GRCm39) |
splice site |
probably null |
|
|
R6995:Apol7a
|
UTSW |
15 |
77,274,176 (GRCm39) |
unclassified |
probably benign |
|
|
R7824:Apol7a
|
UTSW |
15 |
77,273,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Apol7a
|
UTSW |
15 |
77,273,820 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8375:Apol7a
|
UTSW |
15 |
77,273,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9396:Apol7a
|
UTSW |
15 |
77,273,925 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9471:Apol7a
|
UTSW |
15 |
77,273,680 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTGACTCCTGCTGTCAC -3'
(R):5'- AGAGTGTAGCTGATACTGATGTAG -3'
Sequencing Primer
(F):5'- TGTCACAGGTGCCAGAGAC -3'
(R):5'- TGTAGCTGATACTGATGTAGAAGATG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation