Incidental Mutation 'R8328:Pramel26'
| ID |
644194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel26
|
| Ensembl Gene |
ENSMUSG00000059218 |
| Gene Name |
PRAME like 26 |
| Synonyms |
Gm13084 |
| MMRRC Submission |
067727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R8328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143535817-143542663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143537380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 317
(L317P)
|
| 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: L317P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: L317P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
222 |
409 |
9e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105769
AA Change: L317P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: L317P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,866,993 (GRCm39) |
M682K |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,591,374 (GRCm39) |
I42F |
possibly damaging |
Het |
| Ankrd6 |
C |
T |
4: 32,810,215 (GRCm39) |
E489K |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,187,517 (GRCm39) |
H259Q |
possibly damaging |
Het |
| Atosb |
T |
C |
4: 43,034,751 (GRCm39) |
T323A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,527,973 (GRCm39) |
S749G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,806,445 (GRCm39) |
S2338P |
probably benign |
Het |
| Ces2a |
A |
T |
8: 105,463,998 (GRCm39) |
N210I |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,345 (GRCm39) |
V424D |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,236,605 (GRCm39) |
H67L |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,922,115 (GRCm39) |
S800P |
probably damaging |
Het |
| Dmrta2 |
G |
T |
4: 109,837,206 (GRCm39) |
L49F |
unknown |
Het |
| Dpy19l1 |
T |
A |
9: 24,386,686 (GRCm39) |
K9* |
probably null |
Het |
| Dsc2 |
T |
C |
18: 20,165,576 (GRCm39) |
H843R |
possibly damaging |
Het |
| Dsg1b |
T |
A |
18: 20,510,007 (GRCm39) |
F6I |
probably benign |
Het |
| Hck |
C |
T |
2: 152,970,987 (GRCm39) |
A83V |
probably damaging |
Het |
| Hdc |
T |
C |
2: 126,443,803 (GRCm39) |
E292G |
probably damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,116 (GRCm39) |
L102P |
probably damaging |
Het |
| Kdm3b |
G |
A |
18: 34,926,123 (GRCm39) |
V88M |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,961,745 (GRCm39) |
V254A |
probably benign |
Het |
| Lrrc8e |
T |
A |
8: 4,285,641 (GRCm39) |
I622N |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,046,917 (GRCm39) |
N1600S |
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,912,138 (GRCm39) |
I1907T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,051,323 (GRCm39) |
Y26N |
probably damaging |
Het |
| Nrl |
T |
C |
14: 55,758,163 (GRCm39) |
E188G |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,985 (GRCm39) |
M249T |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,460 (GRCm39) |
D173E |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,897,718 (GRCm39) |
E238K |
probably benign |
Het |
| Prr5 |
G |
C |
15: 84,587,387 (GRCm39) |
*388S |
probably null |
Het |
| Rptor |
A |
G |
11: 119,783,473 (GRCm39) |
T1156A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,398,227 (GRCm39) |
I664K |
probably damaging |
Het |
| Stn1 |
C |
A |
19: 47,505,498 (GRCm39) |
R152L |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,721,496 (GRCm39) |
V1121A |
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,487 (GRCm39) |
T241A |
probably damaging |
Het |
| Vmn1r209 |
C |
A |
13: 22,990,643 (GRCm39) |
V16L |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,382,638 (GRCm39) |
E454G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,392,726 (GRCm39) |
E4590K |
unknown |
Het |
| Zfp579 |
T |
G |
7: 4,997,866 (GRCm39) |
H15P |
unknown |
Het |
| Zfp628 |
A |
G |
7: 4,922,813 (GRCm39) |
N345S |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,705 (GRCm39) |
K181* |
probably null |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly 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 |
|
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 |
|
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'- ACATTGACTTAGGGCAGGCAG -3'
(R):5'- ACAGAAGGCAATGTCCTGGG -3'
Sequencing Primer
(F):5'- GGCATTGAAGTGAGTTTCCCCC -3'
(R):5'- GTGGGGTTTGACTTCAATGTATTGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation