Incidental Mutation 'R7986:Pramel26'
| ID |
651476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel26
|
| Ensembl Gene |
ENSMUSG00000059218 |
| Gene Name |
PRAME like 26 |
| Synonyms |
Gm13084 |
| MMRRC Submission |
046027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R7986 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143535817-143542663 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 143538590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 127
(L127*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075045]
[ENSMUST00000105769]
|
| AlphaFold |
A2A8N0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075045
AA Change: L127*
|
| SMART Domains |
Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: L127*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
222 |
409 |
9e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105769
AA Change: L127*
|
| SMART Domains |
Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: L127*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
G |
T |
16: 85,596,435 (GRCm39) |
A401D |
probably damaging |
Het |
| Akap10 |
C |
T |
11: 61,820,890 (GRCm39) |
G5R |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,867,967 (GRCm39) |
L1023W |
probably damaging |
Het |
| Bpifb4 |
A |
G |
2: 153,799,650 (GRCm39) |
N339S |
probably benign |
Het |
| Btbd17 |
A |
G |
11: 114,683,341 (GRCm39) |
Y124H |
probably damaging |
Het |
| Cacna1a |
C |
G |
8: 85,365,408 (GRCm39) |
R2184G |
probably benign |
Het |
| Cavin1 |
A |
G |
11: 100,861,102 (GRCm39) |
I64T |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,106 (GRCm39) |
H9R |
possibly damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,845,461 (GRCm39) |
L1202P |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,596,048 (GRCm39) |
I794V |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,511,674 (GRCm39) |
|
probably null |
Het |
| Col6a2 |
A |
G |
10: 76,450,972 (GRCm39) |
L23P |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,247,904 (GRCm39) |
H324R |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,087,096 (GRCm39) |
S627P |
probably damaging |
Het |
| Dffb |
G |
A |
4: 154,054,504 (GRCm39) |
S195F |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,337,097 (GRCm39) |
Y219N |
probably damaging |
Het |
| Gm29106 |
A |
T |
1: 118,128,000 (GRCm39) |
H564L |
possibly damaging |
Het |
| Gpt2 |
T |
A |
8: 86,235,839 (GRCm39) |
C158* |
probably null |
Het |
| Grin1 |
G |
T |
2: 25,185,841 (GRCm39) |
A872D |
probably damaging |
Het |
| Hoxa1 |
T |
C |
6: 52,135,018 (GRCm39) |
S62G |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,651 (GRCm39) |
N397D |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Llgl1 |
G |
T |
11: 60,602,221 (GRCm39) |
A755S |
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,603,448 (GRCm39) |
E141G |
possibly damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,462,890 (GRCm39) |
T910S |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,687,283 (GRCm39) |
Y55C |
probably damaging |
Het |
| Nek10 |
A |
C |
14: 15,001,020 (GRCm38) |
S1067R |
probably benign |
Het |
| Nemp2 |
C |
T |
1: 52,669,981 (GRCm39) |
A22V |
probably benign |
Het |
| Npy2r |
T |
A |
3: 82,448,803 (GRCm39) |
|
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,290,634 (GRCm39) |
S469T |
possibly damaging |
Het |
| Nr4a3 |
T |
C |
4: 48,055,954 (GRCm39) |
Y327H |
probably damaging |
Het |
| Or10ag52 |
A |
G |
2: 87,043,922 (GRCm39) |
I229V |
probably benign |
Het |
| Or5an1b |
C |
T |
19: 12,300,102 (GRCm39) |
V30I |
probably benign |
Het |
| Prss1l |
T |
C |
6: 41,373,058 (GRCm39) |
I110T |
probably damaging |
Het |
| Ptpdc1 |
G |
A |
13: 48,746,046 (GRCm39) |
A118V |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,535,445 (GRCm39) |
Y73C |
|
Het |
| Rtl1 |
A |
G |
12: 109,558,492 (GRCm39) |
S1116P |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,395 (GRCm39) |
I325T |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,105,418 (GRCm39) |
S817P |
probably benign |
Het |
| Sirt6 |
A |
G |
10: 81,458,344 (GRCm39) |
L303P |
probably benign |
Het |
| Slc46a2 |
G |
T |
4: 59,911,858 (GRCm39) |
F451L |
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,353,449 (GRCm39) |
I219F |
probably damaging |
Het |
| Tmem178 |
A |
G |
17: 81,308,273 (GRCm39) |
I223V |
possibly damaging |
Het |
| Trps1 |
T |
G |
15: 50,525,132 (GRCm39) |
T933P |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,753,019 (GRCm39) |
F16S |
probably benign |
Het |
| Virma |
T |
A |
4: 11,540,023 (GRCm39) |
S1447R |
probably benign |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,119 (GRCm39) |
Y103H |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Ybx3 |
T |
A |
6: 131,356,362 (GRCm39) |
R170* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,506,978 (GRCm39) |
D1122G |
probably benign |
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 |
|
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 |
|
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'- TAGGCCCACTGCAACAAGTAAG -3'
(R):5'- AAGATGGCCTTTGTGCAAAG -3'
Sequencing Primer
(F):5'- GTGGAACATTCATCAAGGTGGCC -3'
(R):5'- CTCAGTGTGAGGCTCATGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation