Incidental Mutation 'R5351:Apol7e'
ID |
423812 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Apol7e
|
Ensembl Gene |
ENSMUSG00000071716 |
Gene Name |
apolipoprotein L 7e |
Synonyms |
ENSMUSG00000071716 |
MMRRC Submission |
042930-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R5351 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
77583057-77603485 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to G
at 77602511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glycine
at position 370
(*370G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094085
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096358]
|
AlphaFold |
Q3UZ24 |
Predicted Effect |
probably null
Transcript: ENSMUST00000096358
AA Change: *370G
|
SMART Domains |
Protein: ENSMUSP00000094085 Gene: ENSMUSG00000071716 AA Change: *370G
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
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
T |
A |
3: 127,522,941 (GRCm39) |
S34C |
probably damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,245,162 (GRCm39) |
I290T |
probably damaging |
Het |
Ceacam12 |
T |
A |
7: 17,801,159 (GRCm39) |
V46D |
probably damaging |
Het |
Ces1d |
A |
G |
8: 93,904,706 (GRCm39) |
Y345H |
probably damaging |
Het |
Cirbp |
T |
C |
10: 80,006,136 (GRCm39) |
|
probably benign |
Het |
Cnot8 |
T |
A |
11: 58,006,147 (GRCm39) |
H225Q |
probably damaging |
Het |
Fstl1 |
T |
C |
16: 37,649,542 (GRCm39) |
V252A |
probably damaging |
Het |
H2-T3 |
T |
C |
17: 36,500,965 (GRCm39) |
Q17R |
probably benign |
Het |
Htt |
A |
G |
5: 34,961,177 (GRCm39) |
Y268C |
probably damaging |
Het |
Ildr2 |
T |
C |
1: 166,136,478 (GRCm39) |
V439A |
possibly damaging |
Het |
Lig1 |
T |
C |
7: 13,034,875 (GRCm39) |
M557T |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,837,132 (GRCm39) |
E1229G |
possibly damaging |
Het |
Mynn |
C |
T |
3: 30,661,691 (GRCm39) |
R258W |
probably benign |
Het |
Nbas |
T |
A |
12: 13,610,850 (GRCm39) |
N2180K |
probably damaging |
Het |
Or8j3c |
A |
G |
2: 86,253,610 (GRCm39) |
S137P |
probably damaging |
Het |
Pcdh1 |
C |
T |
18: 38,330,819 (GRCm39) |
G728D |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,882,217 (GRCm39) |
D882G |
probably damaging |
Het |
Prkar2b |
C |
T |
12: 32,022,126 (GRCm39) |
G60R |
probably damaging |
Het |
Prkdc |
G |
C |
16: 15,649,176 (GRCm39) |
V3717L |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,201,697 (GRCm39) |
V250E |
probably damaging |
Het |
Slc35d1 |
A |
G |
4: 103,047,036 (GRCm39) |
L254P |
probably damaging |
Het |
Srrt |
T |
C |
5: 137,296,546 (GRCm39) |
*239W |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,773,385 (GRCm39) |
V2339A |
probably damaging |
Het |
Unc80 |
T |
A |
1: 66,645,672 (GRCm39) |
S1449R |
possibly damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,793,223 (GRCm39) |
K850M |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 82,974,876 (GRCm39) |
E358G |
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 |
|
R0864:Apol7e
|
UTSW |
15 |
77,601,993 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGGCAATGACCAAAGGAGCC -3'
(R):5'- ATAGCTCTGAATGAGTCATAGGC -3'
Sequencing Primer
(F):5'- CCAAAGGAGCCCGGATCATG -3'
(R):5'- CTCTGAATGAGTCATAGGCAAAAG -3'
|
Posted On |
2016-08-04 |