Incidental Mutation 'PIT4498001:Pramel26'
ID |
556058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel26
|
Ensembl Gene |
ENSMUSG00000059218 |
Gene Name |
PRAME like 26 |
Synonyms |
Gm13084 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
PIT4498001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143535817-143542663 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143539406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 29
(E29G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075045]
[ENSMUST00000105769]
|
AlphaFold |
A2A8N0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075045
AA Change: E29G
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000074557 Gene: ENSMUSG00000059218 AA Change: E29G
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
222 |
409 |
9e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105769
AA Change: E29G
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000101395 Gene: ENSMUSG00000059218 AA Change: E29G
Domain | Start | End | E-Value | Type |
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 93.2%
- 3x: 91.0%
- 10x: 86.1%
- 20x: 75.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh18a1 |
T |
C |
19: 40,562,800 (GRCm39) |
N191S |
probably benign |
Het |
Cacnb2 |
T |
A |
2: 14,879,630 (GRCm39) |
L84* |
probably null |
Het |
Cdhr2 |
C |
T |
13: 54,866,052 (GRCm39) |
T284M |
possibly damaging |
Het |
Defb45 |
T |
C |
2: 152,438,394 (GRCm39) |
|
probably benign |
Het |
Dkk3 |
C |
T |
7: 111,718,679 (GRCm39) |
V236M |
probably benign |
Het |
Dscc1 |
A |
T |
15: 54,945,711 (GRCm39) |
V328D |
probably benign |
Het |
Epha3 |
T |
C |
16: 63,372,889 (GRCm39) |
Y938C |
probably damaging |
Het |
Erc1 |
A |
T |
6: 119,756,452 (GRCm39) |
F435I |
possibly damaging |
Het |
Fbxl5 |
T |
C |
5: 43,908,323 (GRCm39) |
Y626C |
possibly damaging |
Het |
Fmn2 |
A |
G |
1: 174,440,170 (GRCm39) |
R1196G |
probably damaging |
Het |
Gabrr1 |
C |
T |
4: 33,160,225 (GRCm39) |
S303F |
probably damaging |
Het |
Ggt1 |
T |
C |
10: 75,414,689 (GRCm39) |
V169A |
possibly damaging |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gm3182 |
T |
A |
14: 4,481,832 (GRCm38) |
C9S |
probably damaging |
Het |
Gpr88 |
A |
C |
3: 116,046,264 (GRCm39) |
S16A |
unknown |
Het |
Kalrn |
A |
T |
16: 33,851,952 (GRCm39) |
M2076K |
possibly damaging |
Het |
Katnip |
A |
G |
7: 125,412,768 (GRCm39) |
T371A |
probably benign |
Het |
Kcnd3 |
T |
C |
3: 105,566,025 (GRCm39) |
I402T |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,489,714 (GRCm39) |
D57G |
probably benign |
Het |
Ncl |
T |
C |
1: 86,279,162 (GRCm39) |
T584A |
possibly damaging |
Het |
Nfx1 |
A |
T |
4: 40,977,244 (GRCm39) |
Q306L |
probably benign |
Het |
Ogdh |
A |
T |
11: 6,290,504 (GRCm39) |
D374V |
probably benign |
Het |
Or5d39 |
T |
A |
2: 87,980,259 (GRCm39) |
T35S |
probably benign |
Het |
Pak5 |
T |
A |
2: 135,925,211 (GRCm39) |
H697L |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,234,469 (GRCm39) |
C1425R |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 185,013,882 (GRCm39) |
I1196N |
probably damaging |
Het |
Ralyl |
A |
T |
3: 14,172,299 (GRCm39) |
D56V |
probably damaging |
Het |
Scin |
C |
T |
12: 40,119,446 (GRCm39) |
|
probably null |
Het |
Slc25a19 |
T |
C |
11: 115,514,781 (GRCm39) |
I69V |
possibly damaging |
Het |
Slc8a1 |
G |
T |
17: 81,956,269 (GRCm39) |
Y256* |
probably null |
Het |
Smyd1 |
T |
C |
6: 71,196,272 (GRCm39) |
H372R |
probably benign |
Het |
St8sia1 |
T |
C |
6: 142,859,848 (GRCm39) |
T94A |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,527,916 (GRCm39) |
M1391K |
possibly damaging |
Het |
Tlr9 |
G |
A |
9: 106,100,721 (GRCm39) |
R4H |
probably benign |
Het |
Trim50 |
A |
G |
5: 135,382,331 (GRCm39) |
D61G |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,597,295 (GRCm39) |
P19873S |
probably damaging |
Het |
Vmn1r228 |
G |
T |
17: 20,996,772 (GRCm39) |
H249N |
probably benign |
Het |
Vmn2r108 |
C |
T |
17: 20,683,279 (GRCm39) |
G642S |
probably damaging |
Het |
Wdr27 |
A |
G |
17: 15,154,831 (GRCm39) |
S29P |
probably benign |
Het |
Zan |
A |
G |
5: 137,415,298 (GRCm39) |
|
probably null |
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 |
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 |
R7610:Pramel26
|
UTSW |
4 |
143,539,436 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTCAAGAACAGCCTTCAAAGTGTC -3'
(R):5'- GTGTACTCAAATTGGTAAACCGAG -3'
Sequencing Primer
(F):5'- CAGCCTTCAAAGTGTCTAAGTTGAGG -3'
(R):5'- GGTAAACCGAGTATTCCATCTTCATC -3'
|
Posted On |
2019-06-07 |