Incidental Mutation 'IGL03380:Pramel7'
ID |
420647 |
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: 0.083)
|
Stock # |
IGL03380
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
87319432-87322762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87321716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 106
(D106E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026957]
|
AlphaFold |
Q810Y8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026957
AA Change: D106E
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000026957 Gene: ENSMUSG00000025839 AA Change: D106E
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably 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 |
IGL01365:Pramel7
|
APN |
2 |
87,321,757 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
2016-08-02 |