Incidental Mutation 'IGL01365:Pramel7'
| ID |
75920 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel7
|
| Ensembl Gene |
ENSMUSG00000025839 |
| Gene Name |
PRAME like 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL01365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87319432-87322762 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 87321757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026957]
|
| AlphaFold |
Q810Y8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026957
|
| SMART Domains |
Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
207 |
407 |
3e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148030
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,469,680 (GRCm39) |
V867A |
possibly damaging |
Het |
| Adgre5 |
G |
T |
8: 84,450,518 (GRCm39) |
|
probably null |
Het |
| Agtr1a |
A |
G |
13: 30,565,811 (GRCm39) |
Y292C |
probably damaging |
Het |
| CK137956 |
A |
G |
4: 127,845,135 (GRCm39) |
S203P |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 18,860,576 (GRCm39) |
G390D |
probably damaging |
Het |
| Cttnbp2nl |
T |
C |
3: 104,912,346 (GRCm39) |
T513A |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,134,276 (GRCm39) |
K67R |
possibly damaging |
Het |
| Kif3a |
A |
G |
11: 53,484,350 (GRCm39) |
K486E |
possibly damaging |
Het |
| Lmnb2 |
G |
T |
10: 80,740,818 (GRCm39) |
Q151K |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,440,331 (GRCm39) |
L223Q |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,937,449 (GRCm39) |
I901T |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,284,962 (GRCm39) |
Y3624C |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,216,089 (GRCm39) |
Y428* |
probably null |
Het |
| Myb |
A |
G |
10: 21,028,401 (GRCm39) |
I154T |
probably benign |
Het |
| Or14a256 |
T |
C |
7: 86,265,205 (GRCm39) |
Y216C |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,768,324 (GRCm39) |
T168I |
possibly damaging |
Het |
| Ptar1 |
T |
A |
19: 23,683,165 (GRCm39) |
W140R |
probably damaging |
Het |
| Sec14l2 |
G |
T |
11: 4,048,317 (GRCm39) |
D400E |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,124,165 (GRCm39) |
Y175N |
probably damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,727,959 (GRCm39) |
|
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,362,150 (GRCm39) |
V223A |
probably damaging |
Het |
| Srsf1 |
G |
T |
11: 87,940,007 (GRCm39) |
R173L |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,100,878 (GRCm39) |
|
probably null |
Het |
| Tead2 |
T |
A |
7: 44,866,675 (GRCm39) |
D11E |
probably damaging |
Het |
| Trappc12 |
T |
A |
12: 28,797,401 (GRCm39) |
I44F |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,842,054 (GRCm39) |
Y303H |
possibly damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,176 (GRCm39) |
N6K |
possibly damaging |
Het |
|
| Other mutations in Pramel7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Pramel7
|
APN |
2 |
87,321,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01302:Pramel7
|
APN |
2 |
87,321,717 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01728:Pramel7
|
APN |
2 |
87,321,674 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01769:Pramel7
|
APN |
2 |
87,319,932 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01932:Pramel7
|
APN |
2 |
87,321,457 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02971:Pramel7
|
APN |
2 |
87,320,417 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03376:Pramel7
|
APN |
2 |
87,319,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Pramel7
|
APN |
2 |
87,321,716 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0625:Pramel7
|
UTSW |
2 |
87,321,352 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1077:Pramel7
|
UTSW |
2 |
87,321,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1455:Pramel7
|
UTSW |
2 |
87,320,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1666:Pramel7
|
UTSW |
2 |
87,322,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1863:Pramel7
|
UTSW |
2 |
87,321,675 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1977:Pramel7
|
UTSW |
2 |
87,321,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2141:Pramel7
|
UTSW |
2 |
87,320,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3027:Pramel7
|
UTSW |
2 |
87,321,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4374:Pramel7
|
UTSW |
2 |
87,320,415 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4735:Pramel7
|
UTSW |
2 |
87,321,187 (GRCm39) |
nonsense |
probably null |
|
|
R5232:Pramel7
|
UTSW |
2 |
87,320,320 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6255:Pramel7
|
UTSW |
2 |
87,320,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6611:Pramel7
|
UTSW |
2 |
87,320,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6898:Pramel7
|
UTSW |
2 |
87,320,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7246:Pramel7
|
UTSW |
2 |
87,322,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7293:Pramel7
|
UTSW |
2 |
87,322,706 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7408:Pramel7
|
UTSW |
2 |
87,321,189 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7431:Pramel7
|
UTSW |
2 |
87,320,282 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7469:Pramel7
|
UTSW |
2 |
87,321,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8300:Pramel7
|
UTSW |
2 |
87,319,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8803:Pramel7
|
UTSW |
2 |
87,320,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8940:Pramel7
|
UTSW |
2 |
87,321,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9281:Pramel7
|
UTSW |
2 |
87,321,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Pramel7
|
UTSW |
2 |
87,320,019 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2013-10-07 |
Incidental Mutation