Incidental Mutation 'R5312:Pramel16'
| ID |
405638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel16
|
| Ensembl Gene |
ENSMUSG00000078511 |
| Gene Name |
PRAME like 16 |
| Synonyms |
Pramef25, Gm13109 |
| MMRRC Submission |
042895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5312 (G1)
|
| Quality Score |
187 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143948580-143951016 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143949095 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 387
(I387N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105766]
|
| AlphaFold |
A2ASI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105766
AA Change: I387N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: I387N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
427 |
2e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624J02Rik |
T |
C |
7: 118,813,576 (GRCm38) |
I629T |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 120,345,369 (GRCm38) |
V409A |
probably damaging |
Het |
| Abtb1 |
A |
G |
6: 88,838,258 (GRCm38) |
F297L |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,090,182 (GRCm38) |
G202W |
probably damaging |
Het |
| Adgrg3 |
G |
A |
8: 95,039,864 (GRCm38) |
V388I |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,184,188 (GRCm38) |
T396A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,959,768 (GRCm38) |
Q288R |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,097,601 (GRCm38) |
|
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,795,897 (GRCm38) |
R205H |
probably damaging |
Het |
| Ceacam23 |
T |
G |
7: 17,909,142 (GRCm38) |
H492Q |
probably damaging |
Het |
| Cfap210 |
T |
C |
2: 69,787,258 (GRCm38) |
T60A |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,359,254 (GRCm38) |
E1093V |
probably benign |
Het |
| Dmrta1 |
A |
C |
4: 89,692,047 (GRCm38) |
N415H |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,152,862 (GRCm38) |
V266E |
probably damaging |
Het |
| Dot1l |
A |
G |
10: 80,784,637 (GRCm38) |
Q511R |
possibly damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,884,195 (GRCm38) |
V201A |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,003,019 (GRCm38) |
F613L |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm38) |
I731N |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 37,959,873 (GRCm38) |
|
probably benign |
Het |
| Ighv1-74 |
A |
G |
12: 115,802,881 (GRCm38) |
S39P |
probably damaging |
Het |
| Kbtbd11 |
A |
G |
8: 15,028,589 (GRCm38) |
D396G |
possibly damaging |
Het |
| Klc1 |
A |
G |
12: 111,795,621 (GRCm38) |
K575R |
possibly damaging |
Het |
| Lman1l |
A |
T |
9: 57,611,077 (GRCm38) |
L343Q |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,700,830 (GRCm38) |
V825E |
probably damaging |
Het |
| Mus81 |
T |
C |
19: 5,483,494 (GRCm38) |
K489R |
possibly damaging |
Het |
| Myog |
A |
G |
1: 134,290,326 (GRCm38) |
K91E |
probably damaging |
Het |
| Nfil3 |
A |
T |
13: 52,967,620 (GRCm38) |
V416E |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,732,832 (GRCm38) |
E1314* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,806,072 (GRCm38) |
Q1000* |
probably null |
Het |
| Or4g17 |
T |
C |
2: 111,379,834 (GRCm38) |
V278A |
possibly damaging |
Het |
| Or4k35 |
T |
G |
2: 111,270,310 (GRCm38) |
D19A |
probably benign |
Het |
| Or6c66b |
A |
C |
10: 129,541,265 (GRCm38) |
M243L |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,501,514 (GRCm38) |
V210E |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,606,888 (GRCm38) |
|
probably null |
Het |
| Psg27 |
C |
A |
7: 18,557,033 (GRCm38) |
R415L |
probably benign |
Het |
| Ptprr |
T |
A |
10: 116,188,419 (GRCm38) |
S212T |
probably benign |
Het |
| Ramp3 |
T |
C |
11: 6,674,888 (GRCm38) |
F61L |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,958,628 (GRCm38) |
L322P |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,601,588 (GRCm38) |
F175S |
probably benign |
Het |
| Sema4a |
G |
A |
3: 88,437,036 (GRCm38) |
S636F |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,769,401 (GRCm38) |
D193G |
probably damaging |
Het |
| Slc26a5 |
T |
C |
5: 21,847,260 (GRCm38) |
S24G |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,972,332 (GRCm38) |
F606Y |
probably benign |
Het |
| Spg21 |
A |
G |
9: 65,468,802 (GRCm38) |
I31V |
probably benign |
Het |
| Tmem45a2 |
T |
C |
16: 57,039,007 (GRCm38) |
D287G |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,727,769 (GRCm38) |
D627E |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 19,793,034 (GRCm38) |
N139I |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,345,528 (GRCm38) |
|
probably null |
Het |
| Zfp667 |
T |
C |
7: 6,305,467 (GRCm38) |
I378T |
probably benign |
Het |
| Zfp949 |
A |
C |
9: 88,567,183 (GRCm38) |
T14P |
possibly damaging |
Het |
|
| Other mutations in Pramel16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Pramel16
|
APN |
4 |
143,950,214 (GRCm38) |
splice site |
probably benign |
|
|
IGL01562:Pramel16
|
APN |
4 |
143,950,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02422:Pramel16
|
APN |
4 |
143,949,883 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02632:Pramel16
|
APN |
4 |
143,949,937 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL02745:Pramel16
|
APN |
4 |
143,950,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02808:Pramel16
|
APN |
4 |
143,951,015 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL02883:Pramel16
|
APN |
4 |
143,949,848 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02961:Pramel16
|
APN |
4 |
143,949,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03092:Pramel16
|
APN |
4 |
143,950,197 (GRCm38) |
missense |
probably damaging |
0.97 |
|
FR4340:Pramel16
|
UTSW |
4 |
143,949,742 (GRCm38) |
missense |
probably damaging |
0.99 |
|
FR4342:Pramel16
|
UTSW |
4 |
143,949,757 (GRCm38) |
frame shift |
probably null |
|
|
FR4342:Pramel16
|
UTSW |
4 |
143,949,742 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0533:Pramel16
|
UTSW |
4 |
143,950,720 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0606:Pramel16
|
UTSW |
4 |
143,949,883 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1624:Pramel16
|
UTSW |
4 |
143,949,830 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1898:Pramel16
|
UTSW |
4 |
143,950,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2029:Pramel16
|
UTSW |
4 |
143,949,883 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2867:Pramel16
|
UTSW |
4 |
143,948,886 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2867:Pramel16
|
UTSW |
4 |
143,948,886 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2894:Pramel16
|
UTSW |
4 |
143,949,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4111:Pramel16
|
UTSW |
4 |
143,949,905 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4298:Pramel16
|
UTSW |
4 |
143,949,143 (GRCm38) |
nonsense |
probably null |
|
|
R4360:Pramel16
|
UTSW |
4 |
143,950,863 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4361:Pramel16
|
UTSW |
4 |
143,950,863 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5137:Pramel16
|
UTSW |
4 |
143,949,120 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5195:Pramel16
|
UTSW |
4 |
143,950,880 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5548:Pramel16
|
UTSW |
4 |
143,949,980 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5591:Pramel16
|
UTSW |
4 |
143,948,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5644:Pramel16
|
UTSW |
4 |
143,948,804 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6018:Pramel16
|
UTSW |
4 |
143,950,899 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R6177:Pramel16
|
UTSW |
4 |
143,949,006 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R6335:Pramel16
|
UTSW |
4 |
143,949,032 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6376:Pramel16
|
UTSW |
4 |
143,950,697 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6572:Pramel16
|
UTSW |
4 |
143,949,692 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6845:Pramel16
|
UTSW |
4 |
143,949,824 (GRCm38) |
missense |
probably benign |
|
|
R6939:Pramel16
|
UTSW |
4 |
143,948,796 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7081:Pramel16
|
UTSW |
4 |
143,949,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7505:Pramel16
|
UTSW |
4 |
143,949,703 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7711:Pramel16
|
UTSW |
4 |
143,949,252 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8284:Pramel16
|
UTSW |
4 |
143,950,125 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8297:Pramel16
|
UTSW |
4 |
143,949,120 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8299:Pramel16
|
UTSW |
4 |
143,950,757 (GRCm38) |
missense |
probably benign |
0.24 |
|
R8700:Pramel16
|
UTSW |
4 |
143,949,131 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R9179:Pramel16
|
UTSW |
4 |
143,949,724 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9199:Pramel16
|
UTSW |
4 |
143,949,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9214:Pramel16
|
UTSW |
4 |
143,949,180 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9411:Pramel16
|
UTSW |
4 |
143,949,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF011:Pramel16
|
UTSW |
4 |
143,948,908 (GRCm38) |
missense |
probably damaging |
0.96 |
|
RF013:Pramel16
|
UTSW |
4 |
143,948,908 (GRCm38) |
missense |
probably damaging |
0.96 |
|
RF021:Pramel16
|
UTSW |
4 |
143,948,908 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1176:Pramel16
|
UTSW |
4 |
143,950,123 (GRCm38) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCTCTAAGAACAAAACCGG -3'
(R):5'- TGGAGTTCCTGTCAATTGCTC -3'
Sequencing Primer
(F):5'- CGGTTTCATAGCACTCCAGAG -3'
(R):5'- ACATGGAGTCCTTTGCCCAGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation