Incidental Mutation 'R7610:Pramel26'
ID |
588540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel26
|
Ensembl Gene |
ENSMUSG00000059218 |
Gene Name |
PRAME like 26 |
Synonyms |
Gm13084 |
MMRRC Submission |
045679-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R7610 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143535817-143542663 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143539436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 19
(M19K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075045]
[ENSMUST00000105769]
|
AlphaFold |
A2A8N0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075045
AA Change: M19K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074557 Gene: ENSMUSG00000059218 AA Change: M19K
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
222 |
409 |
9e-8 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105769
AA Change: M19K
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101395 Gene: ENSMUSG00000059218 AA Change: M19K
Domain | Start | End | E-Value | Type |
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.7103 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Adtrp |
A |
G |
13: 41,969,670 (GRCm39) |
F110L |
probably benign |
Het |
Akap9 |
T |
G |
5: 4,007,677 (GRCm39) |
D230E |
possibly damaging |
Het |
Alg11 |
G |
A |
8: 22,555,147 (GRCm39) |
R136H |
probably damaging |
Het |
Ank3 |
A |
T |
10: 69,822,252 (GRCm39) |
N307I |
|
Het |
Ankrd17 |
A |
G |
5: 90,380,222 (GRCm39) |
S2489P |
possibly damaging |
Het |
Asf1b |
T |
G |
8: 84,691,678 (GRCm39) |
I43S |
probably damaging |
Het |
Cdc37l1 |
G |
T |
19: 28,985,132 (GRCm39) |
G261W |
possibly damaging |
Het |
Cpped1 |
C |
A |
16: 11,712,742 (GRCm39) |
|
probably null |
Het |
Ctsk |
T |
C |
3: 95,408,155 (GRCm39) |
F4L |
probably benign |
Het |
D130043K22Rik |
A |
T |
13: 25,059,985 (GRCm39) |
T619S |
probably benign |
Het |
Ddx25 |
T |
A |
9: 35,465,893 (GRCm39) |
L109F |
possibly damaging |
Het |
Dhrs9 |
C |
A |
2: 69,223,291 (GRCm39) |
A13D |
unknown |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Fam228a |
A |
G |
12: 4,781,423 (GRCm39) |
|
probably null |
Het |
Fancm |
T |
C |
12: 65,152,454 (GRCm39) |
V970A |
probably damaging |
Het |
Fcrl2 |
C |
A |
3: 87,160,004 (GRCm39) |
V417F |
probably damaging |
Het |
Fig4 |
C |
A |
10: 41,129,709 (GRCm39) |
A504S |
probably damaging |
Het |
Frmpd1 |
T |
C |
4: 45,279,098 (GRCm39) |
S608P |
probably damaging |
Het |
Ggta1 |
C |
T |
2: 35,304,230 (GRCm39) |
|
probably null |
Het |
Grb10 |
T |
C |
11: 11,893,955 (GRCm39) |
K377R |
probably benign |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Klf14 |
A |
G |
6: 30,935,005 (GRCm39) |
S210P |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,332,554 (GRCm39) |
|
probably null |
Het |
Mgrn1 |
T |
C |
16: 4,752,097 (GRCm39) |
*533Q |
probably null |
Het |
Mtarc2 |
A |
G |
1: 184,551,483 (GRCm39) |
Y318H |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,368,191 (GRCm39) |
H598Q |
probably benign |
Het |
Nt5el |
T |
A |
13: 105,247,695 (GRCm39) |
N338K |
probably damaging |
Het |
Ntng1 |
A |
G |
3: 109,842,141 (GRCm39) |
S211P |
probably damaging |
Het |
Or13a21 |
A |
T |
7: 139,999,466 (GRCm39) |
C73* |
probably null |
Het |
Or8i2 |
A |
G |
2: 86,852,141 (GRCm39) |
V249A |
possibly damaging |
Het |
Pgm5 |
A |
C |
19: 24,812,120 (GRCm39) |
N137K |
probably damaging |
Het |
Plcb2 |
T |
A |
2: 118,550,240 (GRCm39) |
N172I |
possibly damaging |
Het |
Rab11fip1 |
G |
A |
8: 27,642,064 (GRCm39) |
H912Y |
probably benign |
Het |
Rgl1 |
A |
G |
1: 152,428,371 (GRCm39) |
V251A |
probably damaging |
Het |
Rgs6 |
T |
C |
12: 83,138,553 (GRCm39) |
Y296H |
probably damaging |
Het |
Rhpn1 |
A |
G |
15: 75,584,245 (GRCm39) |
T446A |
unknown |
Het |
Rtn3 |
A |
G |
19: 7,435,294 (GRCm39) |
S233P |
probably damaging |
Het |
Rwdd1 |
A |
C |
10: 33,877,134 (GRCm39) |
D203E |
probably benign |
Het |
Samd9l |
A |
G |
6: 3,376,754 (GRCm39) |
V169A |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,852,310 (GRCm39) |
L812P |
probably damaging |
Het |
Smc1b |
T |
C |
15: 84,955,021 (GRCm39) |
D1077G |
possibly damaging |
Het |
Snrnp48 |
A |
G |
13: 38,393,937 (GRCm39) |
R81G |
probably damaging |
Het |
Syt17 |
A |
T |
7: 118,033,682 (GRCm39) |
|
probably null |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,228,697 (GRCm39) |
I757T |
probably benign |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Wdr54 |
C |
T |
6: 83,129,839 (GRCm39) |
V305M |
possibly damaging |
Het |
Xirp2 |
C |
T |
2: 67,356,306 (GRCm39) |
T3689I |
possibly damaging |
Het |
Zscan18 |
T |
C |
7: 12,503,237 (GRCm39) |
K774R |
probably damaging |
Het |
|
Other mutations in Pramel26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:Pramel26
|
APN |
4 |
143,539,293 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01075:Pramel26
|
APN |
4 |
143,538,216 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02705:Pramel26
|
APN |
4 |
143,537,372 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03011:Pramel26
|
APN |
4 |
143,538,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4498001:Pramel26
|
UTSW |
4 |
143,539,406 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0268:Pramel26
|
UTSW |
4 |
143,537,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Pramel26
|
UTSW |
4 |
143,537,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R0390:Pramel26
|
UTSW |
4 |
143,538,269 (GRCm39) |
missense |
probably benign |
0.09 |
R0597:Pramel26
|
UTSW |
4 |
143,539,222 (GRCm39) |
missense |
probably damaging |
0.98 |
R0646:Pramel26
|
UTSW |
4 |
143,539,155 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0927:Pramel26
|
UTSW |
4 |
143,539,378 (GRCm39) |
missense |
probably benign |
0.05 |
R0973:Pramel26
|
UTSW |
4 |
143,538,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Pramel26
|
UTSW |
4 |
143,539,396 (GRCm39) |
missense |
probably benign |
0.33 |
R1852:Pramel26
|
UTSW |
4 |
143,539,396 (GRCm39) |
missense |
probably benign |
0.33 |
R3699:Pramel26
|
UTSW |
4 |
143,536,922 (GRCm39) |
missense |
probably benign |
0.05 |
R3705:Pramel26
|
UTSW |
4 |
143,538,345 (GRCm39) |
missense |
probably benign |
0.06 |
R3845:Pramel26
|
UTSW |
4 |
143,538,545 (GRCm39) |
missense |
probably damaging |
0.96 |
R4035:Pramel26
|
UTSW |
4 |
143,537,026 (GRCm39) |
missense |
probably benign |
0.08 |
R4044:Pramel26
|
UTSW |
4 |
143,538,170 (GRCm39) |
missense |
probably benign |
0.34 |
R4439:Pramel26
|
UTSW |
4 |
143,538,143 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4660:Pramel26
|
UTSW |
4 |
143,538,435 (GRCm39) |
missense |
probably benign |
0.19 |
R4770:Pramel26
|
UTSW |
4 |
143,538,519 (GRCm39) |
missense |
probably damaging |
0.96 |
R4838:Pramel26
|
UTSW |
4 |
143,537,375 (GRCm39) |
nonsense |
probably null |
|
R5534:Pramel26
|
UTSW |
4 |
143,539,169 (GRCm39) |
nonsense |
probably null |
|
R5691:Pramel26
|
UTSW |
4 |
143,538,579 (GRCm39) |
missense |
probably benign |
0.44 |
R5893:Pramel26
|
UTSW |
4 |
143,537,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R6123:Pramel26
|
UTSW |
4 |
143,539,334 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6285:Pramel26
|
UTSW |
4 |
143,542,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R6886:Pramel26
|
UTSW |
4 |
143,539,332 (GRCm39) |
missense |
probably benign |
0.29 |
R7105:Pramel26
|
UTSW |
4 |
143,537,341 (GRCm39) |
missense |
probably benign |
0.04 |
R7135:Pramel26
|
UTSW |
4 |
143,537,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R7474:Pramel26
|
UTSW |
4 |
143,538,269 (GRCm39) |
missense |
probably benign |
0.03 |
R7594:Pramel26
|
UTSW |
4 |
143,539,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R7635:Pramel26
|
UTSW |
4 |
143,536,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R7682:Pramel26
|
UTSW |
4 |
143,537,290 (GRCm39) |
missense |
probably benign |
0.38 |
R7986:Pramel26
|
UTSW |
4 |
143,538,590 (GRCm39) |
nonsense |
probably null |
|
R8222:Pramel26
|
UTSW |
4 |
143,536,893 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8328:Pramel26
|
UTSW |
4 |
143,537,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R8678:Pramel26
|
UTSW |
4 |
143,538,576 (GRCm39) |
missense |
probably benign |
0.21 |
R8887:Pramel26
|
UTSW |
4 |
143,539,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R8942:Pramel26
|
UTSW |
4 |
143,536,861 (GRCm39) |
missense |
probably benign |
0.00 |
R9219:Pramel26
|
UTSW |
4 |
143,537,303 (GRCm39) |
missense |
probably benign |
0.02 |
R9291:Pramel26
|
UTSW |
4 |
143,539,251 (GRCm39) |
missense |
probably benign |
0.13 |
R9649:Pramel26
|
UTSW |
4 |
143,542,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Pramel26
|
UTSW |
4 |
143,536,886 (GRCm39) |
missense |
probably benign |
0.24 |
Z1177:Pramel26
|
UTSW |
4 |
143,538,588 (GRCm39) |
missense |
probably benign |
0.17 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACAGGTATCATGGCGGTC -3'
(R):5'- GGATTAGACATATTATGGTGGCAC -3'
Sequencing Primer
(F):5'- ATCATGGCGGTCAAGATCTTTGTAC -3'
(R):5'- CCAGGCCAGTGTGTTCTATAAGTAAG -3'
|
Posted On |
2019-10-24 |