Incidental Mutation 'R3027:Pramel7'
ID |
265839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel7
|
Ensembl Gene |
ENSMUSG00000025839 |
Gene Name |
PRAME like 7 |
Synonyms |
|
MMRRC Submission |
040543-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R3027 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
87319432-87322762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87321747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 96
(M96T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026957]
|
AlphaFold |
Q810Y8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026957
AA Change: M96T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000026957 Gene: ENSMUSG00000025839 AA Change: M96T
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
T |
C |
5: 62,827,240 (GRCm39) |
T993A |
probably damaging |
Het |
Arhgap18 |
G |
A |
10: 26,722,092 (GRCm39) |
G21D |
probably benign |
Het |
Cluap1 |
T |
A |
16: 3,729,396 (GRCm39) |
C84* |
probably null |
Het |
Dnmt3a |
T |
A |
12: 3,899,626 (GRCm39) |
|
probably null |
Het |
Etaa1 |
T |
C |
11: 17,897,886 (GRCm39) |
D146G |
probably damaging |
Het |
Fam227a |
T |
C |
15: 79,532,934 (GRCm39) |
|
probably null |
Het |
Htt |
T |
A |
5: 34,977,439 (GRCm39) |
I775N |
possibly damaging |
Het |
Itgax |
C |
A |
7: 127,747,744 (GRCm39) |
Y1053* |
probably null |
Het |
Kif21a |
T |
A |
15: 90,856,845 (GRCm39) |
N583Y |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,760,283 (GRCm39) |
E2995V |
probably benign |
Het |
Or1ad8 |
G |
A |
11: 50,897,879 (GRCm39) |
V27M |
possibly damaging |
Het |
Or5h22 |
C |
T |
16: 58,895,330 (GRCm39) |
V38I |
probably benign |
Het |
Or6aa1 |
T |
C |
7: 86,043,761 (GRCm39) |
N315S |
probably benign |
Het |
Or8k39 |
C |
T |
2: 86,563,930 (GRCm39) |
V9M |
possibly damaging |
Het |
Otos |
A |
T |
1: 92,572,076 (GRCm39) |
H83Q |
probably damaging |
Het |
Ptprz1 |
T |
A |
6: 23,016,196 (GRCm39) |
S1680T |
possibly damaging |
Het |
Rad50 |
A |
G |
11: 53,586,208 (GRCm39) |
S263P |
probably benign |
Het |
Resf1 |
T |
C |
6: 149,230,533 (GRCm39) |
L1193P |
probably benign |
Het |
Retreg2 |
A |
G |
1: 75,123,088 (GRCm39) |
S339G |
probably damaging |
Het |
Schip1 |
G |
A |
3: 68,401,943 (GRCm39) |
A7T |
probably damaging |
Het |
Shkbp1 |
A |
C |
7: 27,042,818 (GRCm39) |
S540A |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
Spag9 |
G |
T |
11: 93,977,203 (GRCm39) |
R103L |
probably null |
Het |
Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
Spo11 |
T |
C |
2: 172,827,736 (GRCm39) |
Y146H |
probably damaging |
Het |
Tmem25 |
T |
C |
9: 44,709,511 (GRCm39) |
|
probably null |
Het |
Ttyh1 |
A |
G |
7: 4,122,721 (GRCm39) |
D23G |
probably benign |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zfp513 |
A |
G |
5: 31,356,673 (GRCm39) |
S540P |
possibly damaging |
Het |
Zfp808 |
A |
T |
13: 62,319,404 (GRCm39) |
H211L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACTCCAATAACAGTGTTTGG -3'
(R):5'- TCTTCAGATGCAGCTCAGGC -3'
Sequencing Primer
(F):5'- CCAATAACAGTGTTTGGTGTTTATCC -3'
(R):5'- TGCAGCTCAGGCAAGGTG -3'
|
Posted On |
2015-02-05 |