Incidental Mutation 'IGL00471:Pramel7'
| ID |
7128 |
| 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 # |
IGL00471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87319432-87322762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87321429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 202
(L202Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026957]
|
| AlphaFold |
Q810Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026957
AA Change: L202Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: L202Q
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,657,661 (GRCm39) |
V2793A |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,389 (GRCm39) |
Y249C |
probably damaging |
Het |
| Anks1 |
T |
C |
17: 28,277,390 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| C4b |
T |
G |
17: 34,953,403 (GRCm39) |
T1027P |
probably damaging |
Het |
| Clec4d |
A |
T |
6: 123,251,732 (GRCm39) |
I205F |
probably damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,443,174 (GRCm39) |
Y955F |
probably damaging |
Het |
| Cst13 |
T |
A |
2: 148,672,224 (GRCm39) |
M133K |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,871,405 (GRCm39) |
L2418P |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,898,354 (GRCm39) |
|
probably null |
Het |
| Hgfac |
C |
A |
5: 35,203,870 (GRCm39) |
H463N |
probably damaging |
Het |
| Hlx |
A |
T |
1: 184,463,792 (GRCm39) |
F183I |
probably damaging |
Het |
| Ighv1-5 |
T |
G |
12: 114,477,093 (GRCm39) |
I70L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,837,838 (GRCm39) |
T1181A |
probably damaging |
Het |
| Morn1 |
A |
C |
4: 155,176,785 (GRCm39) |
K140Q |
possibly damaging |
Het |
| Nek1 |
A |
T |
8: 61,496,318 (GRCm39) |
M358L |
probably benign |
Het |
| Pcbd2 |
C |
T |
13: 55,924,413 (GRCm39) |
|
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,641,444 (GRCm39) |
S146P |
probably benign |
Het |
| Slc25a21 |
T |
C |
12: 56,764,922 (GRCm39) |
|
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,548,403 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,610,947 (GRCm39) |
D25G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,587,676 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tmem26 |
A |
T |
10: 68,614,511 (GRCm39) |
I309F |
possibly damaging |
Het |
| Ube2c |
A |
G |
2: 164,613,213 (GRCm39) |
T44A |
probably benign |
Het |
|
| Other mutations in Pramel7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation