Incidental Mutation 'IGL00546:1700067P10Rik'
| ID |
8427 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
1700067P10Rik
|
| Ensembl Gene |
ENSMUSG00000021545 |
| Gene Name |
RIKEN cDNA 1700067P10 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL00546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
48400162-48401440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48401096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 127
(V127A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022028]
|
| AlphaFold |
G3X8U2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022028
AA Change: V127A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
C |
A |
17: 41,191,004 (GRCm39) |
V142L |
possibly damaging |
Het |
| Adnp2 |
T |
C |
18: 80,172,082 (GRCm39) |
T776A |
probably benign |
Het |
| Arid4a |
T |
A |
12: 71,122,445 (GRCm39) |
V942E |
probably benign |
Het |
| Bdnf |
C |
T |
2: 109,553,892 (GRCm39) |
P89S |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,652,077 (GRCm39) |
D302G |
probably damaging |
Het |
| Cnot6 |
A |
T |
11: 49,576,093 (GRCm39) |
S158T |
probably benign |
Het |
| Dbt |
A |
C |
3: 116,332,930 (GRCm39) |
K250Q |
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,321 (GRCm39) |
I171M |
probably benign |
Het |
| Ints14 |
A |
T |
9: 64,880,074 (GRCm39) |
N196I |
probably benign |
Het |
| Krt79 |
G |
T |
15: 101,838,308 (GRCm39) |
N482K |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,493,672 (GRCm39) |
A678T |
probably damaging |
Het |
| Mrpl51 |
A |
G |
6: 125,170,177 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
C |
A |
16: 13,221,086 (GRCm39) |
A754D |
probably benign |
Het |
| Mrtfb |
T |
G |
16: 13,221,089 (GRCm39) |
L766R |
possibly damaging |
Het |
| Nipsnap1 |
A |
G |
11: 4,839,098 (GRCm39) |
E126G |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,569 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,748 (GRCm39) |
M54K |
probably benign |
Het |
| Slc15a5 |
A |
G |
6: 138,020,536 (GRCm39) |
Y266H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,697,817 (GRCm39) |
D73Y |
probably damaging |
Het |
|
| Other mutations in 1700067P10Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02792:1700067P10Rik
|
APN |
17 |
48,401,107 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0445:1700067P10Rik
|
UTSW |
17 |
48,400,542 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1025:1700067P10Rik
|
UTSW |
17 |
48,401,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1494:1700067P10Rik
|
UTSW |
17 |
48,400,991 (GRCm39) |
missense |
probably benign |
|
|
R2133:1700067P10Rik
|
UTSW |
17 |
48,400,972 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6059:1700067P10Rik
|
UTSW |
17 |
48,400,847 (GRCm39) |
missense |
probably benign |
|
|
R8460:1700067P10Rik
|
UTSW |
17 |
48,400,849 (GRCm39) |
nonsense |
probably null |
|
|
R8461:1700067P10Rik
|
UTSW |
17 |
48,400,849 (GRCm39) |
nonsense |
probably null |
|
|
R8558:1700067P10Rik
|
UTSW |
17 |
48,400,849 (GRCm39) |
nonsense |
probably null |
|
|
R8672:1700067P10Rik
|
UTSW |
17 |
48,400,849 (GRCm39) |
nonsense |
probably null |
|
|
R8673:1700067P10Rik
|
UTSW |
17 |
48,400,849 (GRCm39) |
nonsense |
probably null |
|
|
R8675:1700067P10Rik
|
UTSW |
17 |
48,400,849 (GRCm39) |
nonsense |
probably null |
|
|
R8872:1700067P10Rik
|
UTSW |
17 |
48,401,164 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2012-12-06 |
Incidental Mutation