Incidental Mutation 'IGL03376:Pramel7'
ID |
420488 |
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 # |
IGL03376
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
87319432-87322762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87319947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 449
(S449P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026957]
|
AlphaFold |
Q810Y8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026957
AA Change: S449P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000026957 Gene: ENSMUSG00000025839 AA Change: S449P
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6v1b2 |
T |
C |
8: 69,554,811 (GRCm39) |
|
probably benign |
Het |
Ccdc122 |
A |
G |
14: 77,306,352 (GRCm39) |
E41G |
probably damaging |
Het |
Cdh3 |
C |
T |
8: 107,268,036 (GRCm39) |
T357I |
probably benign |
Het |
Cfap57 |
T |
A |
4: 118,441,917 (GRCm39) |
Q717L |
probably damaging |
Het |
Cfap58 |
A |
T |
19: 48,023,164 (GRCm39) |
T859S |
possibly damaging |
Het |
Cmtr1 |
C |
T |
17: 29,910,385 (GRCm39) |
R497C |
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,411,464 (GRCm39) |
I2494T |
probably benign |
Het |
Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
Eml3 |
A |
G |
19: 8,911,154 (GRCm39) |
D260G |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,250,960 (GRCm39) |
F493L |
possibly damaging |
Het |
Gjb5 |
C |
T |
4: 127,250,048 (GRCm39) |
R32H |
probably damaging |
Het |
Hpx |
C |
T |
7: 105,241,458 (GRCm39) |
|
probably benign |
Het |
Ikzf3 |
T |
A |
11: 98,379,779 (GRCm39) |
H163L |
probably damaging |
Het |
Irak3 |
G |
A |
10: 119,982,541 (GRCm39) |
|
probably benign |
Het |
Itih5 |
G |
A |
2: 10,211,584 (GRCm39) |
V275I |
probably benign |
Het |
Klc1 |
G |
T |
12: 111,742,387 (GRCm39) |
E174D |
probably damaging |
Het |
Ly6g6e |
A |
G |
17: 35,297,208 (GRCm39) |
*108W |
probably null |
Het |
Mcph1 |
T |
C |
8: 18,646,989 (GRCm39) |
S31P |
probably damaging |
Het |
Mettl4 |
A |
T |
17: 95,042,799 (GRCm39) |
S346T |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,490,086 (GRCm39) |
|
probably benign |
Het |
Or2ag19 |
T |
A |
7: 106,444,677 (GRCm39) |
N286K |
probably damaging |
Het |
Otol1 |
A |
G |
3: 69,934,845 (GRCm39) |
E279G |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,115,071 (GRCm39) |
N722K |
probably benign |
Het |
Rassf9 |
A |
G |
10: 102,381,059 (GRCm39) |
N145S |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,753,380 (GRCm39) |
I158M |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,173,219 (GRCm39) |
|
probably benign |
Het |
Slc30a8 |
C |
T |
15: 52,169,853 (GRCm39) |
R27* |
probably null |
Het |
Tmco2 |
T |
A |
4: 120,966,249 (GRCm39) |
T36S |
probably benign |
Het |
Tns4 |
T |
C |
11: 98,969,382 (GRCm39) |
S360G |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,420,574 (GRCm39) |
|
probably null |
Het |
Wwc1 |
C |
T |
11: 35,743,121 (GRCm39) |
R900Q |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,767,377 (GRCm39) |
|
probably benign |
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 |
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 |
2016-08-02 |