Incidental Mutation 'R0864:Apol7e'
| ID |
82268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apol7e
|
| Ensembl Gene |
ENSMUSG00000071716 |
| Gene Name |
apolipoprotein L 7e |
| Synonyms |
ENSMUSG00000071716 |
| MMRRC Submission |
039038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0864 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77583057-77603485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77601993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 197
(V197E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096358]
|
| AlphaFold |
Q3UZ24 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096358
AA Change: V197E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000094085
Gene: ENSMUSG00000071716
AA Change: V197E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
20 |
82 |
2.3e-14 |
PFAM |
|
Pfam:ApoL
|
77 |
367 |
6.9e-121 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229450
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230236
|
| Meta Mutation Damage Score |
0.6512 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 93.8%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,784,798 (GRCm39) |
|
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,200 (GRCm39) |
Y66C |
probably damaging |
Het |
| Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,756,274 (GRCm39) |
T192I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
G |
A |
2: 104,060,773 (GRCm39) |
P1374S |
possibly damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,808,426 (GRCm39) |
I41V |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
| Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,649,587 (GRCm39) |
V1097A |
probably benign |
Het |
| Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
A |
G |
11: 94,918,759 (GRCm39) |
Y339H |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,283,221 (GRCm39) |
|
probably null |
Het |
| Rbbp4 |
G |
T |
4: 129,214,344 (GRCm39) |
|
probably benign |
Het |
| Rbbp8 |
G |
A |
18: 11,865,241 (GRCm39) |
|
probably benign |
Het |
| Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
| Supt4a |
T |
A |
11: 87,633,913 (GRCm39) |
S88T |
probably benign |
Het |
| Tmem245 |
G |
T |
4: 56,890,837 (GRCm39) |
H321Q |
probably damaging |
Het |
| Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
| Vmn1r36 |
T |
C |
6: 66,693,840 (GRCm39) |
T12A |
probably null |
Het |
| Ywhae |
T |
G |
11: 75,650,256 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
A |
7: 16,154,104 (GRCm39) |
S131T |
probably damaging |
Het |
| Zfp280b |
C |
T |
10: 75,874,139 (GRCm39) |
T6M |
probably benign |
Het |
|
| Other mutations in Apol7e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02110:Apol7e
|
APN |
15 |
77,598,548 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1467:Apol7e
|
UTSW |
15 |
77,601,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Apol7e
|
UTSW |
15 |
77,601,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Apol7e
|
UTSW |
15 |
77,602,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1897:Apol7e
|
UTSW |
15 |
77,602,094 (GRCm39) |
missense |
probably benign |
|
|
R2047:Apol7e
|
UTSW |
15 |
77,601,810 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2311:Apol7e
|
UTSW |
15 |
77,602,236 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2895:Apol7e
|
UTSW |
15 |
77,598,667 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3809:Apol7e
|
UTSW |
15 |
77,602,262 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3842:Apol7e
|
UTSW |
15 |
77,601,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5351:Apol7e
|
UTSW |
15 |
77,602,511 (GRCm39) |
makesense |
probably null |
|
|
R5629:Apol7e
|
UTSW |
15 |
77,602,276 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5853:Apol7e
|
UTSW |
15 |
77,598,667 (GRCm39) |
missense |
probably benign |
|
|
R5882:Apol7e
|
UTSW |
15 |
77,602,447 (GRCm39) |
missense |
probably benign |
|
|
R6337:Apol7e
|
UTSW |
15 |
77,598,582 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6826:Apol7e
|
UTSW |
15 |
77,602,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7422:Apol7e
|
UTSW |
15 |
77,598,552 (GRCm39) |
nonsense |
probably null |
|
|
R7458:Apol7e
|
UTSW |
15 |
77,598,604 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7470:Apol7e
|
UTSW |
15 |
77,602,143 (GRCm39) |
missense |
probably benign |
|
|
R7492:Apol7e
|
UTSW |
15 |
77,601,656 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8005:Apol7e
|
UTSW |
15 |
77,602,277 (GRCm39) |
nonsense |
probably null |
|
|
R8119:Apol7e
|
UTSW |
15 |
77,601,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Apol7e
|
UTSW |
15 |
77,602,007 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8671:Apol7e
|
UTSW |
15 |
77,601,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8757:Apol7e
|
UTSW |
15 |
77,602,065 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8759:Apol7e
|
UTSW |
15 |
77,602,065 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9569:Apol7e
|
UTSW |
15 |
77,601,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGATGCTTATCCTCGGGTGAAAC -3'
(R):5'- GCAGTACCTCCAAAGGCTTCCTTC -3'
Sequencing Primer
(F):5'- CTTATCCTCGGGTGAAACTGGAG -3'
(R):5'- CTTAGCATTAGTTACTAGGCTAGGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation